Fall-Winter 2020

Volume 13, Issue 2 Fall/Winter 2020 THE CYSTINOSISAdvocate Inside This Issue President’s Letter 2 Brighter Days Care Package 3 Program Going Virtual: 2020 Meetups 4 Dublin Cystinosis Workshop 5 Mexico Updates 8 Egypt Updates 9 Dutch & Flemish Group 10 20th Anniversary Cystinosis Network Europe 11 Cystinosis Emergency Relief 13 Fund Education & Awareness 15 Committee Update Family Support Committe 16 Update The Chodakowky Family 17 From Nashville to Virtual-ville JoJo: A Special Gift 18 Shields Family Story 20 CRN Summer Conference Moves Online Industry Partnering 20 Our biennial conference scheduled for this summer will still take place - virtually. CRN Scholarships Awarded 21 With the safety and health of our community in mind, we’ve decided to shift from Fundraising Update 24 an in-person event to an online conference series. We are focused on providing Miles for Moose 25 an educational, supportive, engaging and fun experience. The beat will go on! Research Update 27 Our original 2021 conference location of Nashville, Tennessee will now host our Financial Review 32 Welcome New Board Members 36 face-to-face celebration in 2023. Plus, we hope to host more in person regional Development Update 37 gatherings in 2022. ALAB Update 39 Walk in My Shoes Documentary 41 Don’t have a computer or internet access? Social Media: Fundraising via 42 Facebook We may be able to help! Learn more below___

Free Technology Now Available

Now more than ever, our world relies on technology to stay connected. We’ve partnered with PCs for People to provide complimentary computers and internet access. See if you qualify for a personal computer and hot spot. Please contact Jonathan Dicks at: 513.394.0681 | [email protected] 553 Beechtree Drive, Cincinnati, OH 45224 or visit CRN.PCsRefurbished.com This offer is available for individuals and families living with cystinosis. If you know someone who could benefit from this service, please pass it along.

Page 1 Cystinosis Research Network The President’s Letter Board of Directors President 2020 has seriously been one bizarre year. I don’t think anyone would disagree. Clinton Moore It started off like normal, but come spring the entire world changed almost Executive Director Christy Greeley overnight. A day by day cautious approach is the only way I can think to describe Vice President Research it. New rules, new restrictions, new worries and a search for a new normal Christy Greeley overwhelmed most of us. But what were we to do? We had to stay safe, protect Vice President Development Jonathan Dicks those we love and still somehow try to continue on with our lives. As if life isn’t Vice President Education and challenging enough right? Awareness Marybeth Krummenacker Most of us have found ways to deal with the changes and challenges this year Vice President Family Support has brought. I, myself, have found ways to be as safe and cautious as possible Jen Wyman and still continue to operate my small business and occupy the few free hours Treasurer Jenni Sexstone I can find. The Cystinosis Research Network is no different. The volunteers at Secretary CRN have mostly always worked together on a “virtual” basis as it was, but Ina Gardener still had to pull together to make some critical decisions on how to operate and Directors Andrea Carr provide to this community everything that we could, but in a safe and respectful Carol Hughes way. Some parts of that were easy, while others took more thought and effort. John Maccarone Regardless of the amount of effort any project or undergoing takes, the CRN will Jennifer Loglisci continue to provide every resource possible. Through any pandemic and all of Larry Thomas Anna Pruitt the things that life is throwing at us right now we are here and always will be. Gail Potts Hopefully the President’s Letter in the spring will have me bidding a huge and Herberth Siegler long awaited farewell to COVID and a huge welcome back to our normal lives. Kirsten Stilke Melanie Vachon Sincerely, Tim Wyman Clinton Moore ALAB Representative Cheryl Simoens

Scientific Review Board Chairperson William A. Gahl, M.D., Ph.D.

Membership Frederick Kaskel, M.D., Ph.D. Craig B Langman, M.D. Roslyn B. Mannon, M.D. Jess G. Thoene, M.D.

Medical Advisory Committee Corinne Antignac, M.D., Ph.D. Rachel Bishop, M.D. Donald Cairns, Ph.D. Ewa Elenberg, M.D., M.Ed. Patrick Gipson, M.D. Paul Goodyer, M.D. Larry Greenbaum, M.D., Ph.D. Julie R. Ingelfinger, M.D. Galina Nesterova, M.D., FABMG Minnie Sarwal, M.D., FRCP, DCH, Ph.D. Mihir M. Thacker, M.D. Doris A. Trauner, M.D. The Moore Family Clinton Moore – masked up! Get yours at Joshua J Zaritsky, M.D., Ph.D. cystinosis.org/face-mask-fundraiser

Professional Advisory Committee Maya Doyle, MSW, Ph.D., LCSW-R

Page 2 Brighter Days Care Package Program By Anna Pruitt

Brighter Days was created to give back directly to our cystinosis community through developing care packages. Our mission is to reach families going through challenging times, whether that be newly diagnosed, currently going through kidney transplantation or to remember and honor our loved ones that are no longer physically with us, has been such an honor. Since launching in July 2020, Brighter Days has reached over 15 families. Brighter Days will continue to give back directly to our community in hopes of touching even more lives. We truly hope that we can brighten your day during the most challenging times of your cystinosis journey. We encourage families to stay tuned for more updates with Brighter Days. We hope to have additional ways of giving back to be announced in the near future. To request a care package or learn more, click here.

Attention: Please send any inquiries, general Cystinosis Research correspondence and donations to: The Cystinosis Research Network Network has a P.O. Box 702 new address! Lake Forest, IL 60045-9998

Page 3 CRN Virtual Meetups: COVID-19 Creates a Need to Pivot

The Cystinosis Research Network Meetup topics focused on: holds biennial family conferences hosting many individuals, families and • Mental Health with professionals impacted by cystinosis. Dr. Courtney Taylor In the years in between we’ve Zimmerman managed to bring together smaller groups in select cities around the U.S. • Research & Cystinosis Abiding by COVID-19 restrictions and Gene Therapy with keeping the health of our community Dr. Paul Grimm and in mind, this year those in-person conferences transformed into a series AVROBIO of virtual meetups. • Connecting Caregivers Despite the “Zoom fatigue” that has set in for many, there were silver • Cystinosis Basics with linings to be found in this transition. Dr. Laurence Greenbaum It afforded us the ability to engage with people outside of the United Don’t forget to visit the events States and expanded the sessions Excluding the private conversation section of our website for information to those who cannot travel, perhaps Connecting Caregivers, recordings on video conference calls led by the on dialysis, etc. We received over for each meetup can be found on the Adult Leadership Advisory Board 70 registrants from across America, CRN YouTube channel. where monthly conversations take Australia, Canada, Mexico, New place. This “Cystinosis Sessions” Zealand, UK, France and Germany. series is led by adults living with cystinosis.

Contribute to Your Community – ALAB Now Accepting Applications

We are thrilled to announce that recruitment into the new year. During opportunity is available and ALAB (Adult Leadership Advisory this difficult and isolating period, accessible to all people around Board) is extending new member we want to ensure our volunteer the world. If you are an adult (18+ years old) living with cystinosis, please consider joining efforts with ALAB to support the entire cystinosis community in 2021! Learn more about ALAB’s goals, current programs and how to apply here.

Founding ALAB members at the 2019 CRN Conference

Page 4 Virtual 6th Annual Dublin Cystinosis Workshop 2020 By Ruth Davis

After the incredibly successful our understanding of cystinosis as a in the Faculty of Medicine and Cystinosis Network Europe’s Virtual disease and its treatment. Head of the Subdivision Viral Vector International Cystinosis Conference Mr. Mick Swift, Chairman of Technology and Gene Therapy, at which was held online in April 2020, Cystinosis Ireland welcomed all KU Leuven, Belgium who provided Cystinosis Ireland was delighted to of the participants to the meeting a timely overview of the two types host the 6th Annual Dublin Cystinosis and reflected on the importance of of viral vectors systems currently Workshop virtually on 16 July 2020. maintaining links and the exchange being used to deliver genetic The Dublin Cystinosis Workshop is a of research advances during the material into a patient’s cells; specialist scientific meeting aimed at COVID-19 pandemic. The virtual (ii) Professor Michael Taggart, the scientists, clinicians healthcare Zoom meeting was ably co- Chair of Reproductive Sciences, professionals and patient experts in chaired by long time champions at the Cardiovascular Research the field of cystinosis treatment and of Cystinosis Ireland - Dr. Patrick Centre, Newcastle University, UK, research. Harrison, Department of Physiology who delivered a very interesting presentation that considered the Despite COVID-19 bringing the world at University College Cork and potential for cystinosis patients to of in-person meetings to a halt, the Professor Elena Levtchenko, develop cardiovascular problems in Virtual 6th Annual Dublin Cystinosis Professor of Pediatrics, UZ Leuven in later life; (iii) Professor Francesco Workshop 2020 welcomed its largest Belgium. Emma, Head of the Department of ever participant audience of 49 The workshop programme itself Pediatric Subspecialties, Ospedale experts from 10 countries (Belgium, comprised five keynote speakers with Pediatrico Bambino Gesù, Rome, Netherlands, France, Italy, Germany, a further 15 speakers delivering short Italy and (iv) Dr. Manoe Janssen, Ireland, UK, USA, Canada and New research communiques. Assistant Professor, Department of Zealand) to share recent advances in The keynote speakers were: (i) Dr. Pharmaceutical Sciences, Utrecht their respective research endeavours Rik Gijsbers, Associate Professor University, both of whom gave and to look at new ways to develop

Page 5 presentations on the search for new expression connectivity mapping to genetic factors and therapeutic and more effective drug therapies for screen a database of over 1,000 FDA regimes and their impact on bones in cystinosis; and (v) Professor Maya approved drugs in order to identify cystinosis patients. Doyle Associate Professor of Social potential new therapies for cystinosis; This year’s Dublin Cystinosis Work, School of Health Sciences & (iii) Dr. Koenraad Veys, pediatrician Workshop also strongly encouraged Clinical Assistant Professor, Frank and researcher at the Department early-stage researchers to present H. Netter MD School of Medicine, of Pediatrics at UZ Leuven, Belgium their latest research findings. Quinnipiac University, USA and her who described a retrospective study Postgraduate research students, co-contributors Ms. Cheryl Simoens on a cohort of cystinosis siblings to Dries David, KU Leuven; Amer and Ms. Karen Gledhill, who spoke determine the impact of commencing Jamalpoor, Utrecht University; Fatima about the need to hear the voice of cysteamine treatment early in the Tokhmafashan, McGill University; the patient and their experiences life of the patient on the progression Annika Ewart, Hannover Medical establishing the Adult Leadership kidney disease and other aspects of School, and Meisha Khan, UCSD, all Advisory Board (now an important the cystinosis disease; (iv) Dr. Aude presented their current research at the part of the Cystinosis Research Servais, senior nephrologist at the workshop. Network), which is a forum for the Necker Hospital in Paris, France, We particularly welcomed PhD cystinosis community to gain new also presented on RaDiCo-ECYSCO student Amer Jamalpoor, the perspectives and better navigate their - a multi-centre European cystinosis recipient of the first Professor Roz unknown future by promoting honest retrospective and prospective cohort Anderson Memorial Prize for best and transparent dialogue about the of cystinosis patients; (v) Dr. Brendan scientific poster and also of the challenges and negative aspects of Keating, principal investigator at Penn Cystinosis Ireland Prize for best lay- the disease, while highlighting the Transplant Institute, University of oriented oral presentation at the 5th positives. Pennsylvania, USA who explained the Annual Dublin Cystinosis Workshop plans of the iGeneTRAiN consortium Cystinosis Ireland was particularly 2019, who was specifically invited to conduct genome wide genotyping grateful to Professor Emma for to present on his research. Amer’s and whole exome sequencing of joining the workshop despite the presentation focused on investigating all available cystinosis patients immense workload pressures that bicalutamide, a registered drug worldwide; (vi) Dr. Swastika Sur he and his medical colleagues are molecule, as a potential therapy for from the Sarwal Group, Department experiencing in Italy due to the impact cystinosis. Amer demonstrated that of Surgery, University of California of COVID-19. bicalutamide had potential to correct San Francisco, USA, presented Short research communications were aspects of kidney disease associated on her recent research findings on given by: (i) Dr. Jennifer Hollywood, with nephropathic cystinosis when the potential role of the vacuolar from the University of Auckland used in combination with cysteamine. ATPase gene family in kidney function who presented her research on The cysteamine-bicalutamide and the male reproductive system mTor inhibition in cystinotic isogenic combination treatment was found in cystinosis, and (vii) Professor pluripotent stem cells (iPSC) and to reduce cystine levels more than Justine Bacchetta from the Centre the characterisation of an important cysteamine alone, showing potential de Référence des Maladies Rénales new rat model to study cystinosis as a future therapeutic agent for Rares, Centre de Référence des (which was supported in part by a cystinosis.1 Maladies Rares du Calcium et du Cystinosis Ireland Seedcorn Grant); Phosphore, at the Hôpital Femme A particular focus of this year’s (ii) Dr. Shu-Dong Zhang, principal Mère Enfant in Bron, and from the Dublin Cystinosis Workshop was investigator and senior lecturer INSERM 1033 Research Unit in Lyon, on the role of the patient voice at the Northern Ireland Centre for France, who spoke about a research both in directing their lives, their Stratified Medicine, University of study CYSTEABONE which is treatment, management of their Ulster, C-TRIC, Derry/Londonderry focused on understanding the specific disease and as partners in the who presented his work on using gene

1Jamalpoor, A. et al. (2020) Cysteamine-bicalutamide combination treatment restores alpha-ketoglutarate and corrects proximal tubule phenotype in cystinosis (preprint) doi: https://doi.org/10.1101/2020.02.10.941799

Page 6 research process – ‘nothing about clinical trials. Ms O’Dowd emphasised Anderson Memorial Prize is €200 us, without us’. Professor Maya to the audience that public and patient cash award and an invitation to Doyle’s keynote presentation focused involvement (PPI) is no longer an present at the next annual Dublin on the vital role that peer support optional extra when applying for Cystinosis Workshop. plays amongst those living with research funding, it now influences Acknowledgements chronic health conditions such as whether or not a research proposal Hosting the Virtual 6th Annual Dublin cystinosis as a means for improving will be funded or not. Cystinosis Workshop 2020 would not knowledge and coping mechanisms, Dr Jennifer Hollywood wins the be possible without the hard work and improving patient communication 2020 Professor Roz Anderson assistance of very many people who with healthcare providers, supporting Memorial Prize for best short regularly step up to the plate to help better adherence with various drug communication at the 6th Annual us out. In particular, Cystinosis Ireland regimes, reducing feelings of isolation, Dublin Cystinosis Workshop 2020 would like to thank the members and most importantly, empowering Cystinosis Ireland was proud and of the Dublin Cystinosis Workshop individuals in their health decision- delighted to award Dr Jennifer Scientific Organising Committee – Dr making and advocacy efforts. The Hollywood, Department of Molecular Paddy Harrison (Chairperson), Dr Adult Leadership Advisory Board Medicine and Pathology, The Atif Awan (Irish Medical Organiser), (ALAB), which was established University of Auckland, New Zealand, Professor Elena Levtchenko, Dr Achim by CRN in 2018, aims to nurture this year’s Professor Roz Anderson Treumann, Dr Thomas J. McDonald patients who have cystinosis, and Memorial Prize for the best short and Ms Anne Marie O’Dowd who give provide guidance along the disease communication presented at the their time and expertise freely and process with advice, support, and workshop. Dr Hollywood was awarded generously. Sincere thanks also to Ms companionship. Professor Doyle’s the prize following a direct poll of her Denise Dunne and Dr Ruth Davis for co presenters Ms. Cheryl Simoens scientific peers participating in the all their hard work in organising this (ALAB Chairperson) and Ms. workshop. event. Karen Gledhill (founder member of ALAB) are both members of The Professor Roz Anderson A particular note of thanks must also CRN’s ALAB. Ms Simoens and Ms Memorial Prize is awarded in go to Dr Harrison and Professor Gledhill highlighted to the workshop recognition of the immense Levtchenko, both of whom were the success of the ALAB to date scientific contributions to the field of fantastic chairpersons throughout the and described the ALAB initiatives cystinosis research made by the late workshop, maintaining good order currently underway using social Professor Roz Anderson, University and promoting excellent discussions media communication technologies of Sunderland. The Professor Roz among the participants. (video conferencing, podcasts and teen-oriented Instagram updates) to discuss issues such as mental health, relationships, drug regimen adherence and the various challenges and successes of members of the cystinosis community. In addition to the keynote contributions by Professor Doyle, Ms. Simoens and Ms. Gledhill, Ms. Anne Marie O’Dowd Cystinosis Ireland Executive Member and Chair of the Worldwide Cystinosis Community Advisory Board, emphasised the importance of patient experts input into the design, planning and execution of all research projects from basic science through to

Page 7 Mexico Updates By Victor Gomez

A time together before COVID-19 hit the world. “Cystinosis Family Day” was held March 6-7, 2020 in Acapulco Mexico. For the very first time our organization brought patients and families together at the beach! Not even COVID-19 was an obstacle at this year’s family conference. Some of the highlights included: • Leonardo Rojas, a patient with Fabry disease and member of the Mexican organization for Rare Diseases Patient Assistance, was our motivational speaker. He spoke about his story fighting with this rare disease and how he is doing great right now. Leonardo is a radio announcer at a Michoacan Mexico local radio station • For the very first time we had a mental health expert, Marilu Narvaez in attendance. She is a psychologist and family therapist. We organized a family session which was based on team work and For years, the Mexican Organization for Cystinosis has been working to positive thoughts about our future make cystinosis treatments available. Please ask your doctor if these dealing with a rare disease medications may be an option for you and your family. • International Speaker Paul Grimm gave a cystinosis overview, research updates, recommendations for patients and aswered questions from patients The Mexican Organization of Cystinosis is committed to raising awareness and patient assistance. These conferences are very helpful in making it happen.

Thank you to all who attended!

Page 8 Cystinosis Update from Egypt By Neveen A. Soliman

All cystinosis heroes here are on research interest is focused on rare, regular cysteamine therapy and the genetic and metabolic diseases cystinosis clinic has been renovated particularly clinical and molecular recently. Virtual clinics are also characterization of cystinosis, operational for some patients given ciliopathies, podocytopathies, primary the COVID-19 circumstances. hyperoxaluria, cystinuria, and collagen Neveen A. Soliman is Professor of IV nephropathies among other Pediatrics & Pediatric Nephrology inherited kidney diseases. and Vice Dean for Research & Professor Soliman is a member of Postgraduate Affairs, Kasr Al Ainy several Pediatric Nephrology and School of Medicine, Cairo University. Genetics scientific societies, she She is the Founder and Director authored and co-authored numerous of the Egyptian Group for Orphan publications in renowned high-ranking Renal Diseases (EGORD), the journals and is regularly involved first group of its kind in Egypt and in pediatric nephrology education the region, to care for rare kidney and training both regionally and & Education in Nephrology” Award; diseases. She is also the founder internationally. She had received 2012, 2015 & 2017 Cairo University of the National Association for numerous honors and awards Distinct Research Award; 2015 Rare Diseases (NARD) and the including, 2011 Global Kidney Prof. Ikram Abdelsalam Award in African Inherited Kidney Diseases Academy/International Nephrology Medical Genetics and 2016 Scientific working group (AfrInKiD). Her Education Foundation “Leadership Research Academy Award.

Cystinosis & COVID-19 Survey

24 5%

24 U.S. States responded & 9 non-U.S. respondents 5% experienced COVID-19 symptoms

13%

13% received COVID-19 testing 2 responders tested positive for COVID-19

Based on these results, our medical advisory board feels that cystinosis patients are not affected any more frequently, or severely, than the general population. Results submitted through August 2020 and may not reflect current statistics.

Page 9 Dutch and Flemish Cystinosis Group 20th Anniversary

By Marjolein Bos and Fons Sondag

Time flies. In 2000, Fons Sondag (father of a daughter with cystinosis) and Marjolein Bos (mother of a son with the same condition) both visited the first International Cystinosis Conference in Bergamo, Italy. Until then they had never met. Another Dutch family was present also and it was strange to visit Italy to meet Dutch families. Based on that fact the decision to start a Dutch group was made easily. In November 2000, the first Dutch meeting was held. Eighteen families responded to the invitation and nine families were able to attend in person. During the past 20 years our group has grown to 50 patients and their families, also patients from the Flemish part of Belgium are welcome in our group. We are proud to say the pharmacist made a liquid solution every waking hour. that young children who’ve visited our which was very unstable. We had to For three years we’ve had the meetings together with their parents in pick up a new bottle every week. In commercially available Cystadrops the past still join us. 1997, the Cystagon capsules were and, as a consequence, production We organize annual meetings with available on the market which was a by pharmacies is prohibited in the medical and practical/daily life huge step forward. But the six hour Netherlands. Unfortunately, the information. Every second year we regiment of this medication is still a use of Cystadrops has side effects have a family day with a children’s burden. Although our expertise center which influence the adherence to the program. It is so nice to meet each contributed to the trial, Procysbi is therapy: the opening of the bottle other’s children and for the children to not reimbursed by our authorities. is difficult for patients with muscle meet others with the same condition Until today our families and patients wasting. The dropper is stiff and not and also to meet as parents. still suffer from the night dose of easy to handle. The drops are stinging Cystagon. A lot has been changed during the in the eyes, causing a blurred view last 20 years. Often people think that Eye drops: In the past we had and crusts around the eye. We are in the field of rare diseases nothing eye drops produced by the local in discussion with Recordati to solve will change, but we are extremely pharmacist. The instruction for use these problems. happy that for cystinosis we have of this product is every waking hour, FERTILITY one drop in each eye. This means for a dedicated community with key A milestone in this 20 years was the adult patients approximately 12 drops specialists and researchers. research which showed that men per eye a day. The questionnaire we TREATMENT with cystinosis can father a child. By sent to our members showed that harvesting precursor sperm cells and Cysteamine: Before 1997 cysteamine 60 percent were able to use the eye using an ICSI/IVF method, it was was provided as a food supplement, drops 4-5 times a day, far less than shown to be possible to induce a Page 10 pregnancy. Our group was extremely SUPPORT AT HOME AND AT Africa, Mexico, Turkey are members. happy when, in 2014, the first twin SCHOOL The CAB contacts the pharmacists was born from a father with cystinosis. The knowledge on support at home and researchers responsible for PATIENT CARE and in schools is exchanged during cystinosis medication to discuss new research and product development in The care for cystinosis patients our meetings. Parents tell each order to get the patient voice heard. improved a lot during the last 20 other their own experiences. In the years. Professoe Elena Levtchenko Netherlands and Belgium all kind of BROCHURES started a clinic for adult patients support is available, but the access We started to write a list of tips and with cystinosis with metabolic and to this support is often a challenge, tricks (sorted for age) for food and nephrology doctors and taught them due to all the parties involved in medication intake. This is published the specifics of cystinosis. This clinic the funding (insurance companies, on our website. Next to a general also has an eye doctor, an orthopedic municipalities, central government). brochure with information about specialist and specialized nurses. INTERNATIONAL cystinosis for teachers, paramedical Dr. Marlies Cornelissen is head of the Since 2019, the patient organizations workers etc. we developed a expertise center for cystinosis and in Europe organized themselves as brochure for general practitioners. manages the clinic for children with Cystinosis Network Europe (CNE). This brochure has been translated cystinosis at the Radboud university The two main goals of this network into English, German and will be hospital in Nijmegen. are: organize the biennial International translated into French. These clinics are members of ERKnet, Cystinosis Conference and manage LOSS OF PATIENT MEMBERS the European Reference Network for the worldwide Community Advisory During the 20 years we lost 3 of our rare kidney diseases. Board (CAB). Next to the European cystinosis patients. They will stay in countries also USA, Australia, South our hearts forever.

Cystinosis Network Europe By Denise Dunne

Cystinosis Network Europe (CNE) is available online – www.cystinosis- continuing to meet on a regular basis europe.eu or www.cystinosis.ie. to share information about events and The Worldwide Cystinosis opportunities internationally. We are Community Advisory Board (CAB) delighted to have recently welcomed is continuing to meet to update representatives from Mexico, Russia and connect with researchers and Turkey to the organisation. and sponsors of clinical trials. Following our virtual international We are working towards virtual conference in April 2020, CNE is CAB meetings with a number of proud to announce that our colleagues companies on topics of importance in the Dutch and Flemish Cystinosis to the whole cystinosis community. Group will host the 2022 CNE If you would like any further International Conference. We are information on the CAB, please looking forward to another excellent get in touch with Denise Dunne meeting. The session recordings and (denise.dunne@cystinosis- translations of the 2020 meeting are europe.eu).

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Page 12 Cystinosis Emergency Relief Fund

What is the purpose of this program? Frequently Asked Questions NORD’s Cystinosis Emergency Relief Fund offers small grants to families or individuals diagnosed with Cystinosis and in need of financial support when faced with limited resources to pay for unexpected or emergency expenses. What is NORD? Who is eligible to apply for NORD’s Cystinosis Emergency Assistance The National Organization for grants? Rare Disorders (NORD), a 501(c)(3) organization, is an This program is designed to help patients who: independent charity dedicated • Are a United States citizen or U.S. resident of six (6) months orgreater with to the identification, treatment evidence of residency such as a utility bill showing the patient’s name and and cure of rare “orphan” address diseases such as Cystinosis • Have a diagnosis of Cystinosis through education, advocacy, • Fall within the Program’s financial guidelines and adhere to application research and patient service requirements that are set in advance by NORD programs. What kinds of assistance can I request from NORD? NORD was founded by families struggling to obtain access to NORD’s program can assist eligible individuals/families with two types of treatments and whose advocacy expenses: for change led to the passage • Unexpected or emergency expenses that an individual or family living of the Orphan Drug Act in paycheck-to-paycheck cannot afford without short-term assistance. 1983. NORD assists eligible • Some examples of these expenses may be the cost of diapers or repair patients (those with medical and costs for cars or major appliances, as well as travel expenses for clinic financial needs) in affording the visits (lodging, gas cards). treatments and medical services • Monthly bills that an individual or family living paycheck-to-paycheck their healthcare professionals cannot afford to pay at the time of their application to NORD because of a have prescribed. documentable extenuating circumstance. Funding for NORD comes from • For example, if a parent or caregiver is required to take unpaid leave from a variety of sources including work to care for an ill family member and cannot then afford the monthly corporate donations, foundation cost of cell phones, or auto insurance, or rent/mortgage payments, then grants, public contributions, and with these types of documentable emergency situations, NORD would membership dues. consider making a one-time monthly payment to established bills with the opportunity to reapply if necessary and funds are available. Are there expenses which What is the application process? cannot be covered by NORD’S emergency assistance Awards are granted on a first come, first served basis. Patients may be referred program? to the program by their health care provider, their case managers, or they may self-refer. The RareCareSM Patient Services Representative will guide the Yes, NORD’s goal is to be as applicant through the application process during the initial phone call, at which flexible as possible in regards to time the representative will complete the Electronic Income Verification (EIV). If patient’s emergency needs, but the tool identifies that the patient falls within the program’s financial guidelines some expenses which are not and the patient then agrees to NORD’s Disclosure Agreement during a recorded permissible, by law are: telephone call, the application process will be concluded and the patient • Federal, state, or local tax approved for assistance. Page 13 How long before a decision is made on an application for assistance? payments, including property The application decision process can take as few as 5 minutes over the taxes, child support payments, telephone. Applications completed and submitted via email, fax or US mail will legal fines and/or fees be processed within three (3) business days of receipt. • Luxury goods and services or What happens if an applicant does not meet the criteria of the Electronic vacation costs are not eligible Income Verification? for consideration The RareCareSM Patient Services Representative will offer to e-mail, fax, or mail • Insurance premiums and the brief program application and disclosure forms to the patient. The applicant copay out of pocket costs may then complete the application, sign the disclosure form, provide the appropriate financial documentation to verify financial need, and return them via fax, email, or USPS mail. Is there a fee for applying for assistance? Is there a limit to a patient’s financial award? No, NORD does not charge our A decision to place a “cap” on funding or limit the scope of assistance to applicants when applying for beneficiaries is at NORD’s discretion and is determined based on the amount help. of donations made to the fund, as well as the anticipated volume of applicants expected to utilize the program, and their anticipated financial need. Once a patient is accepted How do I apply for assistance from NORD’s Cystinosis Emergency into the assistance Assistance Program? program(s) how long are they Phone: 855-201-5087 eligible? Fax: 203-486-8033 Awards are offered as payment Email: [email protected] support for a one-time 9am - 7pm (E.S.T.) Mon – Thurs and 9am - 6pm Fri emergency need. Beneficiaries US MAIL to: NORD may reapply within that same Attention: Cystinosis Program year if funding continues to be 55 Kenosia Avenue, Danbury, CT 06810 available.

How does the payment or reimbursement process work? NORD will either utilize a debit card allowing authorized ? $ ?? purchases or will reimburse ? the patient directly for their approved expenses. Require financial help due to the pandemic? All claims submitted for COVID-19 qualifies as an unexpected emergency reimbursement must be provided within 30 days and under NORD’s Relief Fund. Details on how/ include receipts or other where to apply is listed above. evidence of payment, such as a credit card statement. Reimbursements will be made ©2017 NORD. All rights reserved. RareCare is a servicemark of NORD. NORD is a registered trademark of The within ten (10) business days of National Organization for Rare Disorders. NORD is a registered 501(c)(3) charity. NRD-1061 receipt by NORD.

Page 14 Education & Awareness By Marybeth Krummenacker, Vice President of Education and Awareness

As we begin to look ahead to 2021 Our CRN mask project has been an Gail Potts and Carol Hughes, we and hope and pray that life can get overwhelming success! Thank you to were blessed this year to provide six back to what we consider “normal”, we the generosity of John Maccarone and academic scholarships! In addition to have to look at 2020 and wonder… Maccarone Plumbing and Heating and our Individual Living with Cystinosis ”what happened.” I think we are in a Richie Maccarone of Valley Sports, Scholarship and the Sierra Woodward brave new world of advocacy and non- we were able to secure another Sibling Scholarship, we now have profit. CRN continues to be active and 500 masks for our community. We the Deanna Lynn Potts scholarship engaged with the community. While have been blessed to be able to available to our community. Thanks we have not been able to participate provide a free mask to each patient Gail Potts and the generosity of her at “in-person” meetings and some of with cystinosis and charge $10 for family. It is a wonderful feeling to read our traditional activities are certainly each additional mask. We have had the thank you notes after these award conducted differently…we remain requests internationally and mailed notifications are made! It is genuinely quite busy as an organization. them from Canada to Australia! It has appreciated by all recipients. We have traditionally attended the been a wonderful outreach to our Our hope and our prayer as the next PAS (Pediatric Academic Society) cystinosis community and reaffirms big event will be our 2021 CRN Family meeting as well as ASN (American that we are connected throughout Conference, right now scheduled for Society of Nephrology) and we were the world! I have been blessed to the summer of 2021. While we are registered for both in 2020, but we do hear from so many families and have in the early stages of planning, we maintain our connections with them loved seeing the photos posted of our are constantly in contact with our and monitor and update information families wearing their masks proudly!! venue and as we move forward with about upcoming 2021 meetings. While Masks are still available on our planning, we will keep the community some organizations have started to website or by emailing informed for any updates! It truly is opt out of those “in-person” meetings, [email protected]. one of the best times we get to spend we would hope to resume attendance One of the most wonderful things CRN time together. in the spring and fall of 2021. Stay continues to do is to provide academic tuned! scholarships to both our cystinosis patients and to siblings! With the help of our scholarship committee,

Page 15 Family Support Update By Jen Wyman, Vice President of Family Support

Living with, or caring for, someone with a rare disease naturally creates an uneasiness and fear of the future. “ A community is a familiar thread used to bring Add a pandemic to that already people together to advocate and support each magnified sense of fear and you may other in the fight to overcome those threats. As seriously consider wrapping your family in bubble wrap until it is over. human beings, we need a sense of belonging, and It has been a time of heightened that sense of belonging is what connects us to the “ anxiety and alienation with stay at many relationships we develop. home orders and closures. While some have embraced the family time and “hunkering down” others have struggled with the stress of finances, We are fortunate to have an amazing cystinosis community given how small our health care, jobs, mental health. numbers actually are. We are fortunate to have social platforms that keep us Each of us has experienced our connected in times of unrest. We are fortunate to have each other. own struggles and successes over this period. With social distancing CRN Facebook public page @CystinosisResearch or measures in place, social media has facebook.com/CystinosisResearch become a place to stay in contact CRN Facebook (closed/private) group facebook.com/groups/6382741905 with one another and to maintain our sense of community. And while Twitter everything that comes across @CystinosisCRN our feeds isn’t positive, healthy Instagram @cystinosisresearchnetwork information or conversation it remains Instagram for teens (closed/private) @CystinosisTEENS to be a platform that we can use to Cystinosis Research Network stay connected to each other.

Page 16 The Chodakowky Family By Danielle Chodakowsky

ruled out any hormonal conditions grown so much and eats just about causing these symptoms and we were anything these days! We no longer then sent to a pediatric nephrologist. need to use the g-tube for food but Chase’s nephrologist took one look at we do still use it for administering Chase’s physical characteristics and medication. We are working on it but his symptoms and said, “look at him, Chase is still not able to swallow his he is a cystinosis baby!” Fortunate for pills yet. Chase gets medication six us, the nephrologist had experience times a day which includes 22 pills, six with another cystinosis patient many liquid medications, and administers years prior and she was able to his own eye drops 10 times per day. recognize this ultra-rare disease. On top of his medicine, Chase drinks At that point, Chase was diagnosed close to two gallons of water a day to Chase was born on February 16th, with Fanconi syndrome and failure try to quench his never-ending thirst! 2012 as a seemingly healthy baby boy to thrive. After eight long days, the With all of this, he never complains weighing 8 lbs. 12 oz. His first year of bloodwork confirmed that Chase had and always has the most contagious life was what you would expect for a nephropathic cystinosis. Chase was smile on his face. Chase truly is the normal one year old. However, around 18 months old at diagnosis. sweetest, most caring and loving little 15 months old we started to suspect Within a month from the date of boy you’ll ever meet and we are so that something wasn’t quite right. diagnosis, we made the decision to blessed to call him “ours!” Chase would get very irritable and have a g-tube placed to be able to you could only console him with water provide Chase with the food/nutrition and it seemed as though his thirst was that his body so desperately needed never quenched. With the excessive and to also be able to administer his thirst came excessive urination and growing number of medications to he also started to lose interest in food. manage cystinosis. The first year was Over the course of three months we rough. The necessary medications took him to multiple pediatricians only made Chase so nauseous and it to be told that we were worrying too was not uncommon for him to vomit much and that he was just a thirsty multiple times per day. Chase slowly boy. After demanding that they check regained his strength but the nausea his blood sugar, because we thought and food aversions continued. Chase he had diabetes, a normal result was didn’t each much by mouth for the found and the doctor’s once again next few years, his g-tube was a life told us to stop worrying. Another saver! month passed and Chase was now There have been other issues that losing weight, complaining of pain have come along with cystinosis, when he walked, and he just looked including the diagnosis of so weak and frail. At this point, we Pseudotumor Cerebri. Chase has had called the pediatrician and begged six spinal taps over the past few years for them to run some tests on Chase. to drain the excessive spinal fluid that The pediatrician agreed to take a look builds up with this condition. These at his urine and that’s where things must be done to help preserve his started to change. After having two vision. urinalysis that showed significant findings we were finally referred to an Chase is now eight years old in third endocrinologist. The endocrinologist grade and is doing so well! He has

Page 17 JoJo: A Special Gift By Ashley Haynes

On October 2, 2020, Maggie Jo Haynes received the best possible gift. She received a new kidney. This gift came from a person she did not know just one week earlier. Maggie Jo was diagnosed with cystinosis when she was 1 year old. Her sister, Lily Grace, had been dealing with health issues since she was an infant and, at 4 years old, she was finally correctly diagnosed with cystinosis. Since it is genetic, Maggie was tested. We were very surprised when the results showed that she had cystinosis, too. Maggie Jo just didn’t seem sick. In fact, she had a very atypical experience with cystinosis as a child. She took all of her medications and went to the scheduled doctor visits and labs, but she had few of the complications and issues that most children with cystinosis have. She rarely had nausea or low energy. In fact, Maggie played softball for many years and is an avid hunter. She was active and otherwise healthy. It was when Maggie was ten years old that she first had a complication “ Over the next few weeks, our family heard from that is believed to be related to 10-15 people who wanted to begin the process to cystinosis. She had to have a guided growth surgery to correct her being see if they qualified to be her kidney donor. “ “knock-kneed.” Within two years, We were amazed. Maggie Jo had three surgeries to correct her legs. This had taken its toll on Maggie’s energy level. And then, about a year later, when she was 13, doctor told her that she would need decline in kidney function. We began she was admitted to the children’s to be seen for an initial evaluation for to get very concerned. hospital for dehydration. This was a kidney transplant. The appointment When we finally went for Maggie’s the first time that her labs showed an was made for late March. initial transplant evaluation, we abnormality (other than the cystine Unfortunately, COVID changed our discussed possible living donors and level that helped with her diagnosis). plans. Her appointment had to be the process of getting added to the After this hospitalization, Maggie’s backed up from March to April and deceased donor list. I had given my kidney function declined quickly for then from April to May. Meanwhile, her kidney to Maggie’s sister, Lily, in 2011. about a year. In February, Maggie’s lab visits continued to show a rapid We had no family members who were

Page 18 a blood match. My sister, Alyson, was past. When Lily received her kidney Maggie wanted to meet the angel willing to do a paired donor match, but transplant, our community rallied who was willing to give this incredible that was our only family possibility. around us and we definitely felt the gift. On September 27th, Maggie met While Maggie was at her evaluation, love. But, the thought of all of these Joy. Yes, Joy. The person giving the it was found that some of her levels people willing to undergo surgery and gift of life has the most appropriate were “off” and she needed to be give up an organ for our sweet girl, name possible. Joy has two children. admitted to get those corrected. While was humbling, to say the least. Her daughter is the same age as we sat in her hospital room that night, Because of privacy laws, we were not Maggie. On the day we met, gifts were I posted on Facebook about Maggie’s able to be informed about how things exchanged and pictures taken. One situation and gave information in were going with potential donors. But, week later, one of Joy’s kidneys was case anyone was interested in being my sister’s friend kept us informed giving Maggie a second chance. And a living donor. Two minutes after I about where she was in the process. Maggie named her new kidney, JoJo, posted, I received a message from a In mid-August, we got the news that for Joy + Maggie Jo. JoJo is already friend of my sister. She asked for the she was in the final stages of the working hard and allowing Maggie to contact information. Over the next process. In late August, we were told have the energy that a 14-year-old few weeks, our family heard from 10- that Maggie Jo would need to begin should have. 15 people who wanted to begin the dialysis unless a transplant was We hope that Maggie and Joy’s story process to see if they qualified to be scheduled in the next few weeks. We is an inspiration to others who might her kidney donor. We were amazed. weren’t sure if the timing was going to consider being a living donor. It has Now, I will say that we have work out. Finally, in mid-September, a certainly changed our lives. experienced the kindness and date was set. Maggie would be getting generosity of our community in the her new kidney on October 2nd!

Page 19 Shields Family Story By Laura Shields We are Jon and Laura Shields of to be a part of this community suck, Nashua, New Hampshire. Jon and but we’ve made so many friends who I have been married just barely two have shown incredible kindness to us years. Our son, Zeke, was born in in this difficult time. We’ve been sent January of this year (really the only numerous packages with such helpful good thing about this year, stinkin’ information and items to help Zeke. COVID-19). This year has been I’m grateful for the guidance we’ve absolutely crazy for everyone, but I received from this group too. I mean, feel like we win the award for craziest we have excellent doctors in Boston, with this news. I’m sure you all can but they don’t know all the things we relate. need to care for our son. And that’s another thing to be grateful for, that Despite all this year has brought, we I live near such great medical care. feel so blessed. We have so many It could’ve been weeks or months reasons to be grateful. Zeke was before we received a diagnosis, but diagnosed very early at seven months we got a differential diagnosis in one old (we were told this is early anyway). day, and he was correct. Most of We are grateful that his prognosis all, we’re grateful for Zeke and his will be better due to catching it so amazing attitude and acceptance of early. We feel so blessed to be a all of this. He takes all his meds orally part of the cystinosis community too. and he does fantastic. He is a warrior I mean, obviously the requirements and we couldn’t be prouder.

Industry Partnering By Jonathan Dicks, Vice President of Development

share the same conviction that each organization responsible since 1998 person with a rare disease has the for the distribution of over 150,000 right to the best possible treatment. computers to eligible families. Their These partnerships pave the way digital inclusion efforts are essential in for new grant funding, medication today’s society, where it is increasingly development, as well as pipeline hard to access education, healthcare projects that are soon to come to and employment opportunities without fruition, offering our community access to a computer and the internet. incredible and completely-free CRN is proud to announce we will services related to technology, soon have the resources to offer our education and family support. I am families and patients in need; high- overjoyed at the prospects that are quality refurbished desktops, laptops, We are cultivating new partnerships currently being fleshed out. internet and accessories at absolutely and projects with our incredible One such pipeline project on the verge no cost. For details, visit pharmaceutical teams at Horizon of completion is the partnership with CRN.PCsRefurbished.com. Therapeutics, Leadiant Bioscience, PCs for People, a 501(c)(3) nonprofit Recordati and AVROBIO who all

Page 20 CRN Scholarships Awarded By Gail Potts

This year, the Cystinosis Research Network is happy to India will be attending Bowling announce that we had six applications for our academic Green State University in Ohio, scholarships. We were able to grant all our applicants where she is pursuing a degree with these allocated funds to enable them to further their in broadcast communication or secondary education. journalism. She hopes to work in The CRN is happy to congratulate the 2020 recipients of television some day to become the Sierra Woodward Sibling Scholarship, Individual with a newscaster or journalist Cystinosis, and Deanna Lynn Potts Scholarship Awards. where she can give a voice to India Gardner individuals with rare illnesses. INDIVIDUAL WITH CYSTINOSIS DEANNA LYNN POTTS SCHOLARSHIPS The recipient of the Individual with Cystinosis awards was We were pleased to award two Deanna Lynn Potts Victor Gardner. Victor is Scholarships this year, which went to Hannah Creel and attending Cleveland State Mason Reed. University majoring in speech Hannah is attending Samford and hearing. Cystinosis has University in Alabama, where inspired him choose a health she is majoring in music. care profession because of the She contributes her ability to care he received from all the overcome her fear of failure to health care professionals over her choir director in high school. Victor Gardner the years. In doing so it has led her to her SIERRA WOODWARD SIBLING SCHOLARSHIPS musical aspirations. The Sierra Woodward Sibling Scholarship went to three Hannah Creel Mason will be attending Texas siblings of individuals with cystinosis: Kole Binger, Sarah Tech University in Lubbock, Roberts, and India Gardner. Texas. He has not chosen a field of study, but has many Kole will attend the Medical interests. He was on the golf University of Wisconsin having team throughout high school, graduated from the University of was a filmer for the football team Wisconsin. Being a sibling of an and kept books for the basketball individual with cystinosis had a team. He was also on the profound impact on her career accounting team and participated path and she hopes to go into Mason Reed on the robotics team. He was Kole Binger (left) research as a physician. a competitor in 4-H from a young age, and was proud to Sarah hopes to pursue a career show his award winning swine. in either the legal or political Our sincere best wishes to all our amazing scholarship fields in order to be an advocate winners for a successful future. for individuals with disabilities at the University of Victoria in Canada. By being a sibling she recognizes the governmental inequalities of disabled and disadvantaged individuals in Canada and wants to be able to Sarah Roberts give them a voice.

Page 21 Join the Cystinosis Research Network

Get connected! Stay informed! Together we can find a cure!

Become more active within our global network of caring families, concerned individuals and healthcare professionals working together in the fight against cystinosis. The Cystinosis Research Network’s vision is the discovery of improved treatments and ultimately a cure for cystinosis. The Cystinosis Research Network is a volunteer, non-profit organization dedicated to advocating and providing financial support for research, providing family assistance and educating the public and medical communities about cystinosis. CRN funds research and programs primarily through donations from the public, grassroots fundraising events and grants. CRN provides outreach and access to resources. We take great pride in carrying out our motto: “Dedicated to a Cure. Committed to our Community”…whether you are... • A Parent who needs critical resource information, support services or help in sharing the challenges of cystinosis to those who serve your child. • An Adult with cystinosis interested in information regarding medical and social issues that are specifically geared for adults or contribute your voice to new and legacy programming. • A Relative or a Friend who wants to increase their understanding of cystinosis and find out how you can help out or become involved. • A Physician, Social Worker, Educator or other Professional who makes a difference in the life of a family affected by cystinosis, and want to have access to critical information to better serve your patient, student or client.

The Cystinosis Research Network is proud to provide valuable resources to the community, free of charge. Resources include but are not limited to: • The latest cystinosis information through our biannual CRN Newsletter, our website (cystinosis.org), the popular online Cystinosis Facebook Support Groups, regular email updates and social media channels. • CRN Family Conferences and Regional Meet Ups. Exchange knowledge and create friendships with other families and individuals living with cystinosis. Learn first-hand the latest discoveries about cystinosis from the medical professionals. • Rare Disease Week Scholarships. Participate in a week-long event in Washington, D.C. Let your voice be heard by legislators and policymakers who need to know why cystinosis (and other rare diseases) are important issues to you. • Access to Cystinosis Research Network’s representatives in the areas that are most relevant at any given time to you or your loved one affected by Cystinosis.

Page 22 We’d Like to Stay in Touch

To best serve the cystinosis community, we have been working on reorganizing and updating the information in our database. While it can be unsettling to share personal information, please be assured that we use this database for CRN purposes such as mailings and reach select groups with opportunities and important updates.

Your feedback is greatly appreciated!

Full name Email

Relation to person with cystinosis or “myself” Street address

Name of the person with cystinosis (if not yourself)? City, State/Province

Date of birth (person with cystinosis) Zip/Postal code

Phone number Country

If you are completing on behalf of more than one person with cystinosis, please continue:

Full name Email

Relation to person with cystinosis or “myself” Street address

Name of the person with cystinosis (if not yourself)? City, State/Province

Date of birth (person with cystinosis) Zip/Postal code

Phone number Country

Return via email by scanning/uploading photo of this completed form to: Jen Wyman at [email protected] or mail to: Cystinosis Research Network, Inc. P.O. Box 702, Lake Forest, IL 60045-9998

Page 23 Fundraising Update

On the one year anniversary of Laura McGinnis’ passing, the Live Like Laura Fun Fund (LLLFF) was launched. Laura lived life in pursuit of adventure, making memories every step of the way. In that same vein the goal is to enable people affected by cystinosis to participate in life’s many adventures, paving the way to empower these warriors to create their own memories. The LLLFF helps to break down the financial barrier by offering up to $1,000 to applying patients and siblings. To grow funding, we partnered with Frankie McGinnis to host a virtual 5k on November 1, 2020. Being virtual meant participants could be located anywhere in the world! A huge thank you goes out to all who made this inaugural event a success!

We also worked closely with the Peachman family bringing their annual golfing event Mulligans Fore Morgan to life during COVID! 2020 brought Morgan Peachman a new kidney, and a new lease on life. After turning 13 this summer, and hitting her six month kidney-versary, she was cleared for most normal activities. Morgan hit the ceremonial first tee shot! While nothing feels normal this year, The Peachman Family kept with the theme of changing times by bringing their fundraising event to TopGolf in Cleveland to ensure social distancing!

We are live with fundraising for the upcoming first annual ‘Miles for Moose - 57 Miles for a Cure’ slated for a May 8th, 2021 launch to acknowledge Cystinosis Awareness Day and the daily challenges little Benson (also as known as Moose) bravely faces each day. The goal of raising $5,700 is already at 20% funded and continues to rise weekly! Please consider cross promoting, donating, or attending the 57 mile relay walk in Watertown, NY. Details can be found here and/or email Andrea to participate at [email protected]. See page 25 to learn more about Benson and the woman behind Miles for Moose.

Page 24 Miles for Moose By Andrea Carr Our family lives in upstate New York. Some of you may not remember it Some say the tundra of the Canadian as you may have been a baby, much border; others say the beauty of the like Benson was, when you were shores of Lake Ontario, I think it all diagnosed, but your parents sure do, depends on the time of year. We are and your grandparents (like myself) an unconventional family of marriages and other family members do as well. and separations, but we have two And if they’re anything like me, they very special people that hold us all felt absolutely helpless. Your parents together, and that would be Benson, are superheroes, literally. I commend whom I affectionately call “Moose” every single one of you. But as a and his sister Lillian who I also have a grandparent, all I could do was be nickname for, “Bug.” supportive, and loving. So, I started Benson was diagnosed with cystinosis thinking about fundraising, but not in the spring of 2018. And while the being familiar with it, I was a little lost. diagnosis was absolutely devastating One day, I was scrolling through my to him, his parents and our entire Facebook page, and a post from family, he is a true warrior and one the Cystinosis Research Network What will it be like that we all absolutely adore. Being “ popped up and it was about a man only three, he of course doesn’t from this point and his second annual 57-mile walk truly understand his impact on those forward? for Cystinosis Awareness Day on around him. His main focus right now May 7th each year and for his son, is monster trucks, Mickey Mouse and What do you expect Chandler. This man spent the first how to torment his siblings. But we from day to day? year of his event walking 57 miles all see how much he has persevered What is your new “ by himself to raise awareness, and since his diagnosis over two the second year, numerous people years ago. normal? from his community joined to walk Everyone in the cystinosis with him. Being incredibly inspired community knows how hard the initial by him, my wheels began turning. I diagnosis is. contacted Benson’s mommy Larissa, Page 25 Aunties Paige and Mandie, Grandma Tami and Godparents Jasmine and Nick Sprague, and asked them if they wanted to be a part of a committee and pitched my idea… a 57-mile RELAY walk to bring awareness and to raise funds for the Cystinosis Research Network. Little did I know, the man in the original Facebook post was none other than Clinton Moore, the President of CRN. And whenever I reached out to him to find out just exactly how his walk developed, and to see if he had any great advice to lend, I also found a new team member for our Miles for Moose relay walk and a new friend.

Miles for Moose was created based (Left to right) Lillian, Andrea and Benson off of Clinton’s original remarkable idea, but it has grown to become so much more than I ever expected. “ Always remember you are braver than you

While we always wanted the day believe, stronger than you seem, smarter than of the walk to be a family friendly event, our community has become you think, and loved more than you know. “ unbelievably involved as well. The – Winnie the Pooh original kickoff date was May 9th, 2020, but unfortunately due to our year of COVID, Miles for Moose’s 1st Annual Relay Walk was cancelled. silver linings where I can, and I am will not only help me learn more about I have to admit, after so much hard determined to make our ACTUAL first cystinosis, the treatments available, work and planning, it was absolutely year on May 8th, 2021 be even better! the research, etc., but also bring heartbreaking to postpone. But, Through the planning of Miles for me closer to the families that I have ultimately it has become a blessing. Moose, I have come to learn so much grown to admire and respect so much. We just held our second can and more about the cystinosis community I am so amazed by the cystinosis bottle drive with a bake sale included and just how incredible it really is. I community, and immensely humbled and raised almost $1,800! While am so fortunate to have been offered by our local community for their this year has been so tumultuous a position on the Board of Directors. constant support for Benson and our for many, I have tried to find the I can only hope being on the board family.

Save the Date Rare Disease Day February 28, 2021

Page 26 Research Update

By Christy Greeley, Vice President of Research

effort to secure a promising future for the cystinosis community through the support and funding of research grants that lead to improved treatments and ultimately a cure for cystinosis. 2020 CRN Research Grant Funding As a result of the 2020 Call for Research Proposals, CRN is proud to announce funding for the following research projects for a total of $436,193 in new research grants. Cognitive Control Systems in Cystinosis Sophie Molholm, PhD Co-Principal Investigator, John Foxe, PhD Co- Principal Investigator Alex, Christy and Jack Greeley Grant Amount: $315,193, two year CRN has funded over $4.5 million utilizes a Scientific Review Board study total in research grants and fellowship, comprised of leading experts on the Seminal behavioral studies by Trauner including a cystinosis fellowship at the disease of cystinosis which reviews and others in human patients have National Institutes of Health, research grant proposals and submits funding suggested the presence and education programs in the United recommendations to the Cystinosis of cognitive dysfunction in States and many countries around Research Network. More specifically, cystinosis7-15. Our own work the world including Egypt, Mexico, the Scientific Review Board provides suggests some behavioral and neural England, Scotland, Italy, Belgium, independent, objective review and differences France, and much more. CRN has recommendations regarding each also co-funded research projects with research proposal utilizing grant and difficulties with sensory memory Cystinosis Ireland. CRN research review guidelines established by in this population. However, topics have focused on every aspect the Cystinosis Research Network the neurocognitive phenotype of cystinosis with the purpose of and in accordance with the mission associated with CTNS mutations understanding the disease and finding of the organization. Priority is given and its developmental path are improved treatments and a cure. to interventional research, both still poorly understood, and the Topics include research and therapies clinical and basic, that will lead to prime areas of neurocognitive related to neurological, genetic, improved treatments for cystinosis. vulnerability in this population are ophthalmological, gastrointestinal, New investigators are particularly in need of much more thorough muscular, nephrology, pulmonary, encouraged to apply. The Chairperson characterization. This is critical to skin, fertility, improved medications, of the Scientific Review Board developing effective therapies to psychological and much more. summarizes its recommendations compensate for or improve on areas of cognitive vulnerability. To this end, Call for Research Proposals 2020 and presents them to the Cystinosis Research Network which then votes we propose to characterize different The Cystinosis Research Network on each proposed project. A major components of executive functioning announced our Call for Research focus of the Cystinosis Research (memory updating, set shifting, Proposals earlier this year. CRN Network continues to be a determined conflict monitoring, and inhibition)

Page 27 in cystinosis. Focus on this area is use in most countries. Chitotriosidase Beine”, which was developed in motivated by our previous work, the enzyme activity in plasma is a Cologne for children and adolescents literature on cognitive weaknesses in potential alternative to WBC cystine with limited mobility, e.g. caused cystinosis thus far, and by first person in nephropathic cystinosis monitoring. by cerebral palsy or patients with reports collected during interactions Chitotriosidase is mainly produced osteogenesis imperfecta (https:// with patients and families. We will in various tissues by activated unireha.uk-koeln.de/kinder- use high-density electrophysiology macrophages upon stimulation by jugendreha/behandlungskonzept- (EEG)—a non-invasive method cystine crystals. We have previously auf-die-beine/) (3). The training that allows one to directly measure demonstrated that the enzyme is design with home exercise and short functional brain activity at the significantly elevated in the plasma training sessions considers the fact millisecond scale and thus reliably of cystinosis patients compared to that the target patient group is already assess the integrity of information both healthy and renal controls. under great strain due to the severity processing at the neural level—and Moreover, in a two-year longitudinal of the disease (medication, special standardized cognitive functional study chitotriosidase enzyme activity diet, possibly dialysis). The project assessments to test 15 children, was a significant independent follows the official recommendations 15 adolescents, and 15 adults with predictor of WBC cystine levels and for the use of a vibration plate (4,5). cystinosis and the same number was superior to WBC cystine as an Patients train with Galileo vibration of age-matched unaffected healthy indicator of the number of extrarenal plates according to a fixed training controls. Twenty heterozygotes complications in cystinosis patients. schedule which provides for 10 and age matched controls will also When compared to WBC cystine, short training sessions per week be tested to examine the role that plasma chitotriosidase assay is (maximum 2 per day). Within one mutation versus disease plays in the simpler, faster, more economical training session, four exercises will cognitive phenotype of cystinosis, and needs a much smaller sample be performed. The control group will Significance: Greater knowledge making it more convenient, especially perform the same exercises without of the neurocognitive dynamics of in young children. Furthermore, vibration plates, but with dumbbells. executive function in cystinosis has the enzyme is extremely stable for Patients will initially undergo an the potential to critically advance the years at minus zero temperatures. intensive training course and will development of interventions for these In the current proposal, we plan to receive regular supervision during the individuals. In addition, validate our results in a large cohort of three-month home training phase. The identification of neural markers will previously recruited cystinosis patients study is designed as a randomized provide objective assays of treatment followed up at the NIH Clinical Center controlled trial. Due to the very efficacy on brain function. in Bethesda, Maryland, USA. Stored rare underlying disease a matched samples at -80°C of 150 cystinosis pair design was chosen to achieve Chitotriosidase as a therapeutic patients will be retrospectively comparability between the two groups. monitor for cysteamine therapy assayed for chitotriosidase enzyme The patients will be matched based in cystinosis: a retrospective activity, and will be correlated to on their age, sex, and major previous validation study documented parameters of kidney surgeries. A baseline and two follow- Mohamed A. Elmonem, Koenraad R.P. function, extra renal complications up clinical assessment, one after the Veys, Lambertus P. van den Heuvel, and a WBC cystine-based long-term three-month home training phase and William A. Gahl, Elena Levtchenko compliance score. one after the follow-up phase, will Grant amount: $44,000, one year IMPACT – Improvement of Motoric take place. The primary endpoint is study Abilities in Patients with Cystinosis the change in muscle strength (in %) from the baseline examination to the Nephropathic cystinosis lacks a Katharina Hohenfellner, MD practical therapeutic monitor for measurement after the training phase. Grant Amount: $77,000, one year cysteamine therapy. The currently In the control group (CG), a mean shift study used white blood cells (WBC) cystine of 0 % is expected, since no vibration assay, although very specific for The concept presented here, follows training is carried out. the disease, has many clinical and the established approach for the Potential Impact for patients with technical drawbacks limiting its routine rehabilitation of children “Auf die Cystinosis:

Page 28 Patient orientation: empowering Reserve University, Cleveland, young adulthood. patients by supporting an active Ohio, Elena Levchenko, Professor, This project proposes to generate lifestyle and enabling patients to Department of Pediatric Nephrology, isogenic immortalized epididymis and positively influence the course of the Leuven, EU, and Swastika Sur, MSc., testicular cell models to study infertility disease themselves. Optimization PhD Postdoctoral Scholar, Sarwal associated with cystinosis, by using of clinical outcomes: improving Lab, University of California San CRISPR/Cas9 technology to develop cardiorespiratory performance and Francisco, Department of Surgery. a deletion in the CTNS gene of normal increasing muscle strength in patients. Total Grant: €10,000 human epididymis and testicular Improvement of patient-oriented end Principal Investigator, Swastika Sur, a cells. The Sarwal group’s ongoing points of care: improving quality of life. Postdoctoral Fellow at the University collaborations with Dr Smith at UCSF CRN and Cystinosis Ireland Co- of California San Francisco, has has enabled access to a rich tissue Fund UCSF Study of Male Infertility outlined a research proposal focused resource of normal testicular and We are pleased to announce a on infertility in men with cystinosis. epidydymal samples that will be used for generating this cystinosis- specific collaboration between the Cystinosis In addition to various endocrine resource. The Sarwal research group Research Network (CRN) and organs that are affected in cystinosis, also has ethical approvals in place Cystinosis Ireland to fund a male hypergonadotropic hypogonadism has at UCSF and at KU Leuven that will infertility in cystinosis study at been reported as a frequent finding allow Dr Sur to approach cystinotic the University of California San in male cystinosis patients. Although patients for access to patient Francisco (UCSF). The collaboration spermatogenesis has shown to be biosamples. was made possible, in part, from intact at the testicular level in some a private contribution from CRN patients, no male cystinosis patient Previously, the Sarwal research board members, Anna and Paul is known to have naturally fathered a group successfully generated human Pruitt and from Cystinosis Ireland’s child. The sole treatment for cystinosis immortalized CTNS-/- proximal tubular Seedcorn Funding Programme. Dr. is the aminothiol cysteamine, epithelial cells, and confirmed the Sur, a postdoctoral fellow in Professor which is highly effective in reducing phenotype of these newly developed Minnie Sarwal’s Laboratory at UCSF, the intracellular levels of cystine. cell line in terms of intracellular cystine is the Principal Investigator in the However, this drug is ineffective in the levels by HPLC-MS/MS. “Cellular Resource for Studying Male treatment of male infertility in these In this project, Dr Sur will focus on Infertility in Cystinosis” proposal. patients generating human immortalized Both organizations look forward to A previous study of the CTNS-/- epididymal and testicular this partnership and providing greater pathophysiology of cystinosis- cells, followed by phenotype validation insights concerning cystinosis and mediated infertility used a CTNS-/- so that these cell lines can serve as a male infertility. mouse model. However, the CTNS-/- resource for the research community This grant was awarded in July 2020 mouse model generated on C57BL/6 to study the pathophysiology of male by the Cystinosis Research Network background was found to not be infertility observed in cystinosis. and Cystinosis Ireland. suitable for clarifying the pathogenesis The Specific Aims of this project are A Cellular Resource for Studying Male of male infertility in cystinosis. This the following: Infertility in Cystinosis, Minnie Sarwal, mouse model partially mimics the Aim 1: Generate human immortalized MD, PhD, Professor of Surgery, renal phenotype of the human CTNS -/- epididymal and testis cell (Director, Precision Transplant disease but was found to have normal lines by CRISPR/Cas9 and confirm Medicine) University of California testicular morphology and function. the phenotype to further downstream San Francisco (UCSF), James Smith, Therefore to this date, the exact study of male fertility associated with MD, MS (Director, Male Reproductive pathophysiology of male infertility cystinosis Health Center Urologist), University observed in patients with cystinosis Aim 2: Map the molecular of California San Francisco (UCSF), is not yet fully understood, which is a perturbations in both cell lines with Ann Harris, Professor, Department critical unmet need due to the growing deletion of CTNS and in tissue of Genetics and Genome Sciences, population of cystinosis patients, samples from male cystinotic patients, School of Medicine, Case Western treated with cysteamine reaching by using state of the art genomics that

Page 29 the Sarwal Lab has legacy expertise- a broad range of information and fatty substrate in specialist immune in. This will define the clinical utility of resources for those facing these cells called macrophages, as well as the resource generated in Aim 1. challenges (cystinosis.org/about- debilitating symptoms throughout the This project will provide a first of its cystinosis/dialysis-transplant). body, including the brain.” kind human cellular models to study Please visit the Research page The company’s Phase 1/2 trial of cystinosis-mediated male infertility. on the CRN website for updates AVR-RD-02 for Gaucher disease Cystinosis Community Advisory on CRN funded studies as well as type 1 is currently recruiting patients Board other research from around the in Australia and Canada, with new world. Also be sure to check out clinical sites expected to open in the I continue to participate as the U.S. the many cystinosis related articles U.S. and Israel by year-end. representative in the Cystinosis and publications available in our EuroCAB programme, a project Gaucher disease is a rare, Publications and Guides library. of EURORDIS, the European inherited lysosomal storage Rare Disorder Organization. The AVROBIO Announces New Patients disorder characterized by the toxic Community Advisory Board’s (CAB’s) Dosed in Gaucher Disease and accumulation of glucosylceramide objective is to improve patient access Cystinosis Clinical Trials (GlcCer) and glucosylsphingosine to novel therapies and treatments. First patient dosed in AVROBIO’s (GlcSph) in macrophages. This is achieved by engaging global Phase 1/2 clinical trial of AVR- Macrophages bloated with these fatty with clinical trial sponsors at the RD-02 for Gaucher disease type 1 substances are called Gaucher cells which amass primarily in the spleen, earliest stages of their research Second patient dosed in investigator- liver and bone marrow. This results processes. The CAB also works with sponsored Phase 1/2 clinical trial of in a variety of potential symptoms, pharmaceutical companies on topics AVR-RD-04 for cystinosis like educational materials and other including grossly enlarged liver and CAMBRIDGE, Mass.--(BUSINESS appropriate topics. As well as meeting spleen, bone issues, fatigue, low WIRE)--Jul. 6, 2020-- AVROBIO, Inc. with industry sponsors, the Board hemoglobin levels and platelet counts (Nasdaq: AVRO), a leading clinical- engages with early-stage researchers and an adjusted lifetime relative risk of stage gene therapy company with a as part of PPI - Public and Patient developing Parkinson’s disease that mission to free people from a lifetime Involvement in research. We look may be more than 20 times greater of genetic disease, today announced forward to partnering with researchers than the general population. Even on that the first patient has been dosed and industry worldwide to improve enzyme replacement therapy (ERT) – in the company’s GuardOne clinical the quality and speed with which the current standard of care – people trial, a Phase 1/2 investigational study cystinosis treatments are developed with Gaucher disease type 1 have a evaluating AVR-RD-02 for Gaucher with the patient’s voice in mind. shortened life expectancy and may disease type 1. The company also experience debilitating symptoms that National Institutes of Health announced that the second patient significantly reduce their quality of life. As a reminder, patients may contact has been dosed in the ongoing An estimated 1 in 44,000 people are the National Institutes of Health to investigator-sponsored Phase diagnosed with Gaucher disease. be enrolled in the cystinosis protocol 1/2 clinical trial of AVR-RD-04 for “While the current treatments and for consultative care. For more cystinosis. for Gaucher disease -- enzyme information, please contact: “The first patient dosed is an important replacement therapy and substrate Joy Bryant, (301) 443-8690, milestone for the Gaucher disease reduction therapy -- have been life [email protected] community and our AVR-RD-02 changing, many unmet needs remain Educational Resources program. Gaucher disease type 1 that significantly impact the daily lives leads to an array of serious symptoms All of CRN’s educational materials of patients and families living with and the current standard of care does including brochures, guides and other Gaucher disease, including fatigue, not halt disease progression,” said publications have been updated and severe bone pain, joint destruction, Geoff MacKay, AVROBIO’s president are available on the CRN Website. increased risk of developing and CEO. “With a single dose of our Look for a newly expanded Dialysis Parkinson’s disease and other co- investigational lentiviral gene therapy, and Transplant section will include morbidities,” said Christine White, we aim to prevent the buildup of a executive director, National Gaucher Page 30 Foundation of Canada. “We welcome the second or third decade of life. The disease experience a toxic buildup clinical trials of new therapeutics current standard of care for cystinosis of a complex cell lipid called that have the potential to stop the is cysteamine, a burdensome globotriaosylceramide (Gb3 or GL3), progression of Gaucher disease and treatment regimen that can require which can damage tissues throughout are excited to learn more about the dozens of pills per day and may not the body and brain, and cause the potential use of this lentiviral gene prevent overall progression of the progressive signs and symptoms of therapy.” disease. Fabry disease. The Phase 1/2 trial of AVR-RD-02 for The Phase 1/2 clinical trial is About AVROBIO’s personalized Gaucher disease type 1 is designed evaluating the safety and efficacy gene therapy approach to evaluate the safety and efficacy of AVR-RD-04 in patients at least Our investigational lentiviral gene of the investigational gene therapy 18 years of age who are currently therapies start with the patient’s own and is expected to enroll eight to being treated with cysteamine. The hematopoietic stem cells. We use a 16 patients between the ages of 18 trial will enroll up to six patients. lentiviral vector to transduce those and 35. AVR-RD-02 starts with the AVR-RD-04 starts with the patient’s cells in order to insert a therapeutic patient’s own hematopoietic stem own hematopoietic stem cells, which gene designed to enable the patient cells, which are genetically modified to are genetically modified to produce to produce a supply of the functional express functional glucocerebrosidase functional cystinosin, the protein that protein they lack. These cells are (GCase), the enzyme that is deficient is deficient in cystinosis. then infused back into the patient, in Gaucher disease. The trial will Patient recruitment activities for where they are expected to engraft include both patients who are Fabry Phase 2 trial ongoing in the bone marrow and produce treatment-naïve and who are on Patient recruitment activities for generations of daughter cells, each ERT. Every patient in this trial will be AVROBIO’s Phase 2 FAB-201 trial containing a copy or copies of treated using the plato® gene therapy for Fabry disease continue for clinical the therapeutic gene. To optimize platform, AVROBIO’s foundation trial sites in Australia, Canada and engraftment, we use a personalized designed to scale gene therapy the U.S. While clinical trial sites conditioning regimen with precision worldwide. are starting to reopen and patient dosing of busulfan to make space Second patient dosed in cystinosis identification activities are ongoing and enable durable engraftment in clinical trial with a number of potential new the patient’s bone marrow and central The second patient has been dosed patients identified, activities related to nervous system (CNS). Busulfan is in the company’s AVR-RD-04 new patient screening, consent and an extensively validated conditioning investigational gene therapy program enrollment in the FAB-201 clinical trial agent generally considered to for cystinosis. The ongoing Phase have been slowed because of the be the gold standard for ex vivo 1/2 clinical trial is sponsored by the COVID-19 pandemic. lentiviral gene therapy and has been administered to hundreds of patients company’s academic collaborators at AVROBIO is conducting two clinical for this purpose. Our approach is the University of California, San Diego trials for its AVR-RD-01 investigational designed to drive durable production (UCSD)1 and is led by Stephanie gene therapy for Fabry disease. Four of the functional protein throughout Cherqui, Ph.D., associate professor of patients have been dosed in the the patient’s body, thereby potentially pediatrics at UCSD. global Phase 2 trial (FAB-201), which addressing symptoms from “head to Cystinosis is a progressive disease is evaluating treatment-naïve patients, toe,” including those originating in the marked by the accumulation of and five patients are participating in CNS. cystine in cellular organelles known the fully enrolled Phase 1 investigator- as lysosomes. This buildup can led clinical trial, known as FACTs. About lentiviral gene therapy cause debilitating symptoms including AVR-RD-01 starts with the patient’s Lentiviral vectors are differentiated kidney failure, corneal damage and own hematopoietic stem cells, which from other delivery mechanisms thyroid dysfunction, often leading to are genetically modified to produce because of their large cargo a shortened lifespan. Currently, more functional alpha-galactosidase capacity and their ability to integrate than 90 percent of treated cystinosis A, the enzyme that is deficient in the therapeutic gene directly into patients require a kidney transplant in Fabry disease. People with the the patient’s chromosomes. This

Page 31 integration is designed to maintain the plato® gene therapy platform, the therapeutic gene’s presence our foundation designed to scale as the patient’s cells divide, which gene therapy worldwide. We are potentially enables dosing of pediatric headquartered in Cambridge, Mass., patients, whose cells divide rapidly as with an office in Toronto, Ontario. they grow. Because the therapeutic For additional information, visit gene is integrated using the vector avrobio.com, and follow us on into patients’ own stem cells, patients Twitter and LinkedIn. are not excluded from receiving the Collaborator-sponsored Phase 1/2 investigational therapy due to pre- clinical trial of AVR-RD-04 is funded existing antibodies to the viral vector. in part by grants to UCSD from the About AVROBIO California Institute for Regenerative Our vision is to bring personalized Medicine (CIRM), Cystinosis gene therapy to the world. We aim to Research Foundation (CRF) and halt or reverse disease throughout the National Institutes of Health (NIH). body by driving durable expression The full press release including of functional protein, even in hard-to- AVROBIO’s Forwarding-Looking reach tissues and organs including Statement can be found online. Christy Greeley with CRN face covering the brain, muscle and bone. Our clinical-stage programs include Fabry disease, Gaucher disease and cystinosis and we also are advancing a preclinical program in Pompe disease. AVROBIO is powered by

The Cystinosis Research Network, Inc. Financial Review — Accrual Basis By Jenni Sexstone, Treasurer

For the 9 months ending period in 2019 of $510,000. Education CRN had net operating income of September 30, 2020 and conference spending was $304,000 for the nine months ending Revenues $58,000 compared to $353,000 in the September 30, 2020. Continuous prior year due to the family conference fundraising activities and generous Total income for the nine months that took place in 2019. Year-to-date corporate support continues to provide ending September 30, 2020, was research grant expenditures were cash resources to increase patient $440,000 compared to $337,000 in $34,000 compared to the same advocacy and family support activities 2019 due to increased fundraising period in 2019 of $107,000. Total in 2020 and beyond to support the efforts as well as corporate partner operating expenses of $39,000 were cystinosis community. support. slightly higher than the same period in Cash on hand at September 30, 2020 Expenses 2019 of $45,000 due to website and was $478,000. Net change in cash Total expenses for the period were database updates that took place last through the third quarter of 2020 was $136,000 compared to the same year. an increase of $283,000.

Page 32 Recordati Rare Diseases News Release Recordati Rare Diseases Announces Availability of CYSTADROPS® (Cysteamine Ophthalmic Solution) 0.37% in the U.S.

Lebanon, NJ, September 15, 2020 – Recordati Rare Diseases Inc., today announced that CYSTADROPS® (cysteamine ophthalmic solution) 0.37% is now available for prescription and distribution across the United States (U.S.). CYSTADROPS is a new, viscous eye drop solution that depletes cystine crystal deposits in the cornea of the eyes of people living with cystinosis. Cystinosis is a rare genetic condition present from birth that leads to the build-up of cystine crystals throughout the body, causing widespread tissue and organ damage and significant impact on the eyes. CYSTADROPS is available exclusively through Anovo, a specialty pharmacy that focuses on providing medical treatments to people living with rare and chronic diseases. Recordati and Anovo have partnered together to establish patient support services including insurance benefit investigations, educational references, resources for financial aid, and more. Clinicians can complete a prescription form here. CYSTADROPS is the first and only U.S. Food and Drug Administration (FDA) approved cysteamine eye drop formulation with four times a day dosing. The FDA approval of CYSTADROPS was supported by data from two clinical trials, both in which patients received CYSTADROPS at a median frequency of four times per day. A Phase 3 open-label, randomized, controlled, two-arm multicenter trial, with 15 patients in the CYSTADROPS arm, investigated the reduction in corneal cystine crystal density as assessed by in vivo confocal microscopy (IVCM). In the CYSTADROPS arm, the trial showed a 40 percent reduction in the IVCM total score across all corneal layers from baseline to 90 days. A Phase 1/2a open-label, adaptive dose-response clinical trial of eight cystinosis patients showed that treatment with CYSTADROPS resulted in a 30 percent decrease in IVCM total score that was maintained for the five-year study period. The safety of CYSTADROPS was evaluated in two clinical trials. The most commonly observed adverse reactions were eye pain (stinging), blurred vision, eye irritation (burning), eye redness, discomfort at instillation site (sticky eyes or sticky eyelids), eye itching, watery eyes, and medicine deposit on the eye lashes or around the eyes. Please click here for full Prescribing Information and Instructions For Use. What is CYSTADROPS (cysteamine ophthalmic solution) 0.37%? CYSTADROPS is a viscous, or thick, cystine-depleting ophthalmic solution indicated for the treatment of corneal cystine crystal deposits in adults and children living with cystinosis. Cystinosis is a complex, rare disease requiring patients and caregivers to manage multiple different medications every day. CYSTADROPS is the first and only FDA-approved cysteamine eye drop formulation applied four times a day during waking hours. CYSTADROPS can be stored at room temperature for up to seven days after opening. Indications and Usage CYSTADROPS (cysteamine ophthalmic solution) 0.37% is a cystine-depleting agent indicated for the treatment of corneal cystine crystal deposits in adults and children with cystinosis. Important Safety Information • To minimize the risk of contamination, do not touch the dropper tip to any surface. Keep bottle tightly closed when not in use. • A condition where the pressure inside the skull increases for unknown reasons has been reported with cysteamine taken by mouth or cysteamine eye drops (used at the same time as cysteamine taken by mouth). This condition went away with the addition of medicine that increases the production of urine.

Page 33 • Contains the preservative benzalkonium chloride. Contact with soft contact lenses should be avoided. Remove contact lenses prior to application. Lenses may be reinserted 15 minutes following administration. • The most common side effects are eye pain (stinging), blurred vision, eye irritation (burning), eye redness, discomfort at instillation site (sticky eyes or sticky eyelids), eye itching, watery eyes, medicine deposit on the eye lashes or around the eyes. • To report SUSPECTED SIDE EFFECTS, contact Recordati Rare Diseases Inc. at 1-888-575-8344, or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. For more information, visit www.cystadrops.com. About Cystinosis Cystinosis is a rare genetic disorder affecting multiple organs and systems that most frequently begins in infancy. Cystinosis requires patients and caregivers to manage multiple different medications every day. It is estimated that approximately 600 people in the U.S. have cystinosis. Cystinosis is caused by a mutation in the CTNS gene that results in impaired transport of the amino acid cystine out of lysosomes in cells. This, in turn, leads to formation and accumulation of cystine crystals in cells, causing damage to organs throughout the body and significant impact on the eyes. The cornea, or front layer of the eye, is the part of the eye that may be most affected. The first and most frequently reported ocular symptom is photophobia -- sensitivity to light that results in discomfort. It is thought that photophobia is mainly due to the presence of corneal cystine crystals that cause light entering the eye to scatter. As the disease progresses, ocular symptoms increase in number and intensity, daily activities become more difficult to carry out, and severe complications may develop, including visual impairment and potential corneal transplant. About Recordati Rare Diseases Inc. Recordati Rare Diseases Inc. is a biopharmaceutical company committed to providing often-overlooked orphan therapies to the underserved rare disease communities of the United States. Recordati Rare Diseases is part of the Recordati Group, a public international pharmaceutical company committed to the research and development of new specialties with a focus on treatments for rare diseases. Recordati Rare Diseases’ mission is to reduce the impact of extremely rare and devastating diseases by providing urgently needed therapies. We work side-by-side with rare disease communities to increase awareness, improve diagnosis and expand availability of treatments for people with rare diseases. The company’s U.S. corporate headquarters is located in Lebanon, NJ, with global headquarter offices located in Milan, Italy. For a full list of products please click here: http://www.recordatirarediseases.com/us/products. For additional information, please visit our website: www.recordatirarediseases.com/us. Media Contact: Elissa Johnsen EJJ Communications, LLC for Recordati 312-285-3203 [email protected] Statements contained in this release, other than historical facts, are “forward-looking statements” (as such term is defined in the Private Securities Litigation Reform Act of 1995). These statements are based on currently available information, on current best estimates, and on assumptions believed to be reasonable. This information, these estimates and assumptions may prove to be incomplete or erroneous, and involve numerous risks and uncertainties, beyond the Company’s control. Hence, actual results may differ materially from those expressed or implied by such forward-looking statements. All mentions and descriptions of Recordati products are intended solely as information on the general nature of the company’s activities and are not intended to indicate the advisability of administering any product in any particular instance.

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Page 35 Welcome New Board Members

Jonathan Dicks, Andrea Carr, Tim Wyman, Director Vice President of Director Timothy Wyman, Development Andrea Carr is CFP®, JD, is the Jonathan is a critical originally from New Managing Partner care nurse, working Hampshire, but now and CERTIFIED his way towards lives in Dexter, NY FINANCIAL a Masters in the Family Nurse with her husband Jason and stepson PLANNER™ professional at Center for Practitioner track at the University Maddox. Jason and Andrea have two Financial Planning, Inc.® Tim earned a of Cincinnati. This year Jonathan grandchildren, Lillian (“Bug”), 5 and place on Forbes’ Best-In-State Wealth with three other founding members Benson (“Moose”) 3. Andrea works Advisors List in Michigan in 2019 for the launched Revive Strength and at a public library as an Executive second consecutive year. He was also Wellness, a client-focused personal Assistant to the Director, but wears named a 2019 Financial Times 400 Top training facility in Oakley. When not many hats. Financial Advisor. training clients or rotating in various Aside from her job at the library, Mrs. A leader in his profession, Tim has outpatient settings Jonathan is a Carr spends a lot of time with family served on the National Board of doting father and husband to his and friends, as well as working on Directors for the 28,000-member two little ones Elle and Finn, and their 57 mile relay called “Miles for Financial Planning Association. He “the bedrock of it all” his incredible Moose” to raise funds for cystinosis, frequently speaks to organizations and wife Shirley. Married for eight years because our grandson was diagnosed businesses on financial planning topics. the family of three, expecting their in 2018. A frequent contributor to national and second child were finally given a Melanie Vachon, local media, he has made appearances correct diagnosis for Eleanor, and Director on Good Morning America Weekend thus began their “new normal.” Since Melanie Vachon is a Edition and WDIV Channel 4 News, that time Jonathan has been active dental assistant from and has contributed to articles in in the CRN with his family making the Derby, Kansas. She Forbes, The Wall Street Journal, Money trip to Philadelphia for their first CRN is a mother of two Magazine, SmartMoney, The Chicago conference and representing his home boys, Zander-9, and Logan-almost 8. Tribune, and other national publications. state of Ohio with CRN at this year’s Logan was diagnosed with cystinosis Tim has been an active community Rare Disease Week on Capitol Hill. just before his first birthday. The volunteer over his 25+ year career Jonathan is an avid outdoorsman, diagnosis was hard, life changing; serving several organizations. He reader, and fitness enthusiast who it was very tough for a while. The currently serves on the Albion College loves to cook, and enjoys spending as struggle was real, but Logan is now Endowment Investment Committee. much time as he can with his family. not only stable, but thriving! Tim and his wife, Jen, have three We all came to this place in one way Melanie has had the pleasure of children. The oldest, Matt, graduated or the other. For whatever reason attending several CRN/cystinosis from the University of Kansas where he or circumstance, cystinosis is the tie events in the past few years, including was a placekicker for Jayhawks football that binds us all. Our passion and the CRN conference in Utah, and team. The middle child, Jack, a U.S. drive to be a voice for those who have smaller cystinosis meet-ups in LA, St. Army 2nd Lieutenant, lives with his wife none calls us to do more, always Louis and Wichita. She was also given Libby in Washington. He also graduated more. I find myself here willing and the opportunity to represent CRN at from Tim and Jen’s alma mater, Albion able to lend all I can to this incredible Rare Disease Week on Capitol Hill College, and captained the college’s community of link-minded souls. – this past February. The experience baseball team. The youngest child, Jonathan Dicks at Rare Disease Week, representing Kacy, is a student at Bloomfield Hills and advocating for our cystinosis High School and looks forward to her community on The Hill, lit a fire inside college years in the near future. of her.

Page 36 Development Update

By Jonathan Dicks, Vice President of Development

Two years in. Two years almost to the exact day when our burgeoning family’s lives would change forever. In the acute phase of Eleanor’s diagnosis I couldn’t see anything but darkness. The silver lining wasn’t there, and if there was a light at the end of the tunnel, our collective grief blocked those rays of hope. All we could think about was what to do next? Shirley was six months pregnant with our son, Finn, and we realized the nature of this disease and its genetic inheritance immediately. Needless to say we walked on eggshells for the next three months in anticipation, with a resolve to tackle whatever news we were given. Cystinosis wasn’t thinking for one minute about taking a day off, we weren’t either. Two years has given so much perspective allowing us to realize the many blessings we have to be thankful for. It has also challenged How can I best support those battling us to realize we cannot live this life this disease currently, and honor without the help of “our village.” I those beautiful souls represented in didn’t truly understand that until the twinkling white stars that surround Elle was properly diagnosed and our green ribbon? I immediately we truly understood what the future began to search for ways I could be could possibly bring with it. We were at the center of my daughter’s care managing the brand new expectations and still make meaningful moves for of our lives. In totality the path not only her, but for all the incredible seemed insurmountable, but in little warriors and their families with this chunks we were seeing positive diagnosis. I knew there was space for movements. Some days the highs and me somewhere, but I was not certain lows changed drastically, but we soon where I would fit so I chose to say began to remove the really bad days “yes” to anything that came my way. with better days. When Shirley and I When Clinton gave me a call to Jonathan Dicks (right) at the 2019 Rare Disease Day in Washington, DC officially joined the CRN and attended assess my interest in representing our first family conference we knew CRN and my home state of Ohio we had found a home. at the 2019 Rare Disease Week on All I could think about was how do I Capitol Hill I immediately accepted. give to a community that gave us so When he then floated the idea of much in our deepest time of need?

Page 37 working in a more focused fashion on the executive board, I did the same. I didn’t know what or where he felt I would have the best fit and greatest impact, I was just excited to be given the opportunity to serve a cause that had become our life’s passion. He and I both knew I was onboard for life. Two years in and now in the role of Vice President of Development I have found that home. The role has been a ridiculously busy undertaking from the very first conference call, but that’s quite an amazing truth to realize. It means we are seeing a litany of energized families in our small community stepping into advocacy roles and fundraising events. With the help of some incredible behind- the-scenes work from truly amazing people this development role has blossomed into an interconnected role of helping families interested in fundraising to do so in a stream-lined and stepped fashion that takes the fear out of the question “what can I do?”

Page 38 Update: Adult Leadership Advisory Board

By Cheryl Simoens, ALAB Chairperson

I cannot believe how quickly time passes and that winter is upon us already. As I reflect over the past year as Chairperson with ALAB, I recognize the dedication, collaboration, and growth this group has demonstrated in providing support, education, and mentorship to the entire cystinosis community. We have learned, shared laughter and built friendships in each other that will not be forgotten. Journey into the Unknown Podcast, and feel more connected to the entire I am very proud of the work we put Cystinosis Sessions, a virtual face- cystinosis community across the in to develop and brand ALAB and to-face platform for discussions and world. create project initiatives from fruition CystinosisTEENS, a private Instagram Below are further details and updates to execution. With the launch of our account, there is something for on the launches and content of these three projects; Cystinosis Rare: A everyone to participate in, listen to projects.

Cystinosis Rare: A Journey into the Unknown Podcast

Part 2 included a panel of medical on bullying, social implications, professionals; Dr. Paul Grimm, MD negative biases, and teasing. with the Lucile Packard Children’s Episode 4 consisted of a panel Hospital at Stanford University and of teens and young adults/adults Dori Rivera, PAM (Patient Access sharing their stories on personal Cystinosis Rare Podcast Manager) with Horizon Therapeutics, situations and experiences with released the third episode in two discussing tips on how to manage these issues, how it shaped them parts in August 2020 focusing medical, social, and educational and coping tools and strategies on transitioning from youth to needs, guidance in the medical they learned and utilized. The adulthood. Part 1 included a system, including protection during fifth episode welcomed a panel panel of young adults and adults COVID, and tools, resources and of parents with children who have from the cystinosis community strategies for smooth transitioning cystinosis discussing how they speaking to their own experiences into adulthood. The fourth and fifth managed and continue to manage on transitioning, struggles and episodes were released in November their child’s needs, their own challenges, coping strategies 2020 with Maya Doyle, MSW, Ph.D., experiences with bullying or social and how they addressed their LCSW with Quinnipiac University, implications and hopes for their own needs and moved to moderating both episodes focusing children in the future. independence and resilience.

Page 39 CystinosisTEENS Instagram Account

The Instagram account was created just for teens and young adults. It is doing well with ongoing, regular spotlight posts highlighting teens and endless! The account also provides opportunities for the entire cystinosis young adults’ successes, interests, promotional posts focusing on community including scholarship and achievements, allowing followers ALABs project initiative updates funding, and inspirational quotes. to be reminded that they are not and reminders, fundraising efforts their illness and the potential is from both ALAB and CRN, and

Cystinosis Sessions

ALAB members have been busy deterioration has been noticed, and working on monthly virtual Zoom a personal trainer as special guest to sessions focusing on connecting answer questions; and nutrition and cystinosis community members diet among the community. Cystinosis from all over the world to join in Sessions has seen participants from conversation. Throughout the around the world including Germany, months, topics have included Mexico, Kuwait, Canada, and the US. mental health; PTSD, relatable, If you are a young adult or adult with shared stories and coping cystinosis interested in getting more practices, including therapy; involved and joining the conversation, exercise and keeping active, this is a great place to start! which had the conversation Contact Cheryl at focusing on types of exercise, [email protected]. areas in the body that muscle

Exciting Engagement Opportunities

the patient voice. The keynote was for new members in October 2020 delivered to an esteemed group of with announcements being made physician researchers, clinicians, and by early 2021. It is an honor to be organization leaders from around the working alongside ALAB and CRN in world. ALAB members advocated for collaboration of the intake process In July 2020, ALAB members had the adults living with cystinosis through from selection to onboarding and opportunity to participate in the 6th sharing their mission, goals and needs training of new members. I look Annual Dublin Cystinosis Workshop of the community as we enter a new forward to learning from this new as keynote speakers in a research world where the adults are becoming group, mentoring new faces and symposium held by Cystinosis the voice and the experts that drive collaborating with a fresh set of Ireland. The presentation focused momentum, success and planning. ideas, perspectives and strategies. on development and programming, It is with great excitement that I The year ahead will be bright and needs of adults with cystinosis, announce ALAB had their first full of excitement, growth and and the importance of listening to Open Call for 2021 Applications transformation.

Page 40 Walk in My Shoes – Documentary By Clinton Moore, President

At first the thought of creating a unfortunate series of events we had to mentally. I am completely satisfied documentary about a walk event that postpone. My son’s health was failing with the final product. It shows OUR I do each year seemed really simple. and we now had to turn our attention story. Just the way I wanted it to. It And it probably would have been. As to him and his doctors to figure out shows our “highs” and our “lows.” It the discussions began and then the what was shows how planning I soon realized that what I going on. The WE deal with truly wanted to share was so much documentary cystinosis. more than a walk and that the walk had to be put Blended in was only a very small part of it. on hold as we certain spots I wanted to share MY story, my could not get you meet SON’S story, and my WIFE’S story. the footage other people Everyone’s story and perspective we wanted to to get THEIR about a rare disease is different. A make this a perspective. I rare disease that affects only a couple great film. Nor am extremely thousand people affects each of them did we have proud of this differently. In every single person you the time. documentary will find differences even though it’s After a few and proud of the same disease. months of all the people who were The filming began with me just holding vigorous a part of it. a cell phone a recording myself. Just testing, doctor Thank you to everyone that took the to have small short clips to add in visits, second opinions and surgeries, time to watch and to everyone for the here and there. The film crew showed things started to look up. Now we overwhelming and incredible amount up and started filming on the day were ready to finish this thing up. of support and love that came right before the walk. Hours and hours Round three was scheduled and soon after its release. and hours of footage were gathered. I found my home once again filled Some material was interviews with with cameras and lighting equipment. To view the full-length documentary, other walkers and some just shots of Three days later cameras were please visit the Cystinosis Research everyone walking around the track. All packed up and filming was complete. Network channel on youtube.com. day and all night, the cameras rolled Then came editing. If we used every until we completed the 57 miles. The minute of footage we had then the next morning, assisted by crutches, film would be close to 200 hours long. I worked my way into the makeshift Next, I was introduced to the grueling studio for another full day of on task of removing footage and creating camera interviews. Once we ended a finish product. This takes months. I thought we were finished filming. I Then when you think you’re done you could not have been more wrong. watch it and make more changes. After reviewing all gathered footage, Then you decide to add something Richard Hemmingway (producer) and then remove something. I called me and told me what we could honestly think I could have worked on create with what we had. I knew right this project forever. But at some point away that we needed more. Much you have to stop and love what you more. He then gathered up and found created. his way to Philadelphia for the CRN Creating the “Walk In My Shoes” family conference in July (2019) with documentary was challenging. It was Clinton Moore on set during the “Walk In My big plans to finish shooting. After an emotionally challenging as well as Shoes” Documentary Satellite Media Tour

Page 41 Facebook Fundraising: Recognizing Your Contributions

Online giving has grown consistently year over year. The cystinosis community has embraced this option, especially when it comes to Facebook fundraisers. If you are among the platform’s 2.6 billion monthly active users, you’ve probably been encouraged to create a birthday fundraiser for your favorite charity or you’ve been prompted to share a campaign to fund emergency relief. While Facebook fundraising has expanded our donor reach, recognizing those donors has been unsuccessful. Ideally, we would fill the annual donor honor roll with the name of each and every person who has selflessly contributed. Due to Facebook privacy policies, donor information remains anonymous. In 2019, we received almost $35,000* from Facebook fundraisers. These often small acts of kindness add up, creating funding for research and support programs. Thank you for your continued support!

*Facebook contributions are received via Network for Good.

Facebook fundraisers have become 1. Click Fundraisers in the left a good source of fundraising thanks menu of your News Feed. to the ease of use. If you have a 2. Click +Raise Money. Facebook account, the platform 3. Under Nonprofit select may prompt you to begin a birthday Cystinosis Research Network. fundraiser. In November 2017, all fees were abolished and now 100% 4. Choose a cover photo and fill in of donations go towards your selected the fundraiser details. nonprofit. Here’s how to get started: 5. Click Create.

CRN and eBay for Charity

eBay for Charity has partnered with will automatically collect the donation the PayPal Giving Fund to make it from the seller’s PayPal account* easy for sellers to donate 10% to Once a month PayPal Giving Fund 100% of your item’s final sale price to will combine and deliver 100% of all a certified charity. donations collected for that charity. 1. SELECT CHARITY *If your donation cannot be collected Seller picks the charity and the automatically then you will be emailed donation percentage when listing an an invoice from PayPal Giving Fund item. requesting payment for the donation. 2. SELL & SHIP CRN is a certified charity within this Item sells. Buyer pays full amount to program. You can learn more at seller. Seller ships item to the buyer. https://ebay.to/2YkSxQ9. 3. DONATE After the transaction is complete (approx 21 days), PayPal Giving Fund

Page 42 Strength: Lives Touched by Cystinosis

Each Cystinosis journey is different. However, this collection of stories reminds us of a trait many have in common: Strength. Hear from over 20 individuals and loved ones impacted by cystinosis. Amanda Buck (cystinosis caregiver) and Amanda Leigh (adult living with cystinosis) deliver this labor of love on behalf of the cystinosis community, but it is intended for EVERYONE who has ever experienced the great pains and joys of life. Please consider purchasing a copy today. All proceeds benefit the Cystinosis Research Network and move us one step closer to finding a cure. Available through amazon.com.

Take the “Know Your Cystinosis” Quiz

When were you diagnosed with cystinosis?

Have you/when did you receive dialysis and/or a transplant?

What are your medications?

What is each medication for?

When do you take them?

Any side effects?

Are you allergic to anything?

Any major surgeries or hospitalizations?

Who are your doctors and how do you reach them?

Knowing the answers to these questions is important as you prepare to transition to a new medical team. They are also vital to know if you are involved in after-school activities, out with friends or traveling. In an emergency situation, like a sudden illness episode, a sports injury, or a car accident, you must be able to tell medical personnel about your health and your medications. You can find additional tools at cystinosis.org under Support & Resources, Education section.

Page 43 Cystinosis Research Network P.O. Box 702 PRESRT STD Lake Forest, IL 60045-9998 US POSTAGE PAID KANKAKEE IL PERMIT 38

Please email any contact corrections to [email protected].

Volume 13, Issue 2 Fall/Winter 2020

P.O. Box 702 Cystinosis is a rare, genetic, metabolic disease that causes an amino Lake Forest, IL 60045-9998 acid, cystine, to accumulate in various organs of the body, including the kidneys, eyes, liver, muscles, pancreas, brain and white blood www.cystinosis.org cells. Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine. The availability Phone 847-735-0471 of cysteamine medical therapy has dramatically improved the natural history of cystinosis so that well treated cystinosis patients can live Fax 847-235-2773 into adulthood. Email [email protected] CRN VISION CRN MISSION Editor Clair Johnstone The Cystinosis Research The Cystinosis Research Network’s vision is the Network is a volunteer, non- acceleration of the discovery of profit organization dedicated a cure, development of improved to advocating and providing treatments, and enhancement financial support for research, of quality of life for those with providing family assistance and cystinosis. educating the public and medical communities about cystinosis.

facebook.com/cystinosisresearch @CystinosisCRN @CystinosisResearchNetwork Cystinosis Research Network

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