NPUK NEWS the Official Newsletter of Niemann-Pick UK Autumn Edition 2016

NPUK NEWS The Official Newsletter of Niemann-Pick UK Autumn Edition 2016

In this Issue: NPUK Annual Family Conference / Our Fundraising Heroes/ Useful Help and Info / Research News / & Much Much More!

Registered Charity Number: 1144406 NPUK Helpline: 0191 415 0693 Company Limited by Guarantee Families Officer: 01904 438589 Registered in England and Wales No: 07775835 Email: [email protected] Registered as a Charity in Scotland No: SCO45407 Website: www.npuk.org Welcome to the autumn edition of the all-new NPUK Newsletter: 4 This is the home of all things Niemann-Pick UK...so you’ll find everything from clinical trials to fundraising news - annual 24 conferences to Christmas parties, and much much more!

Follow the contents guide to the right to read up on the subjects 34 which interest you most...we hope you enjoy this edition! All the best, 39 The NPUK Team p.s. did you notice anyone you know on the back cover? We were so proud of how our 46 community got involved that we decided to put a collage of everyone together on the the newsletter! Thanks again to everyone for taking part! 48 55 NPUK News Chairman’s Chat, 25 Years, Laura Bell, Elizabeth Davenport, Introductions & Goodbyes, NPUK Annual Family Conference Research Bill Owen Research Report, Clinical Trial Updates, Clinical Research Studies, Peter Carlton Memorial Award 2017 Our Events Chester Zoo, Christmas Party, Photoshoot, First Aid Workshop, Global Niemann-Pick Awareness Month, ITV ‘The Chase’ Fundraising Our Fundraising Heroes, Upcoming Runs & Rides INPDA Update from the INPDA, The Loire Valley Meeting In Loving Memory Adam Walters, Abubakar Mohammad, Emily Bushaway, Alice Byrne, May Dockney, Lorna Jane Mason Help & Info Advice for Parents, Big Lottery Fun, The Star Online, NPUK: Who We Are 4 Autumn Edition NPUK News 5

Chairman’s Chat:

Many of you will know that Sue Woodhouse, our Information Officer, left NPUK in March 2016 to develop her own business. I would like to thank Sue for 10 years loyal service and wish her every success for the future. Our charity continues to evolve and I am pleased to welcome two new members of our team; Louise Metcalfe as Pro- ject Team Leader, a post fully funded by the Big Lottery, and John Lee Taggart, our Social Me- dia & Communications Officer, which is a post shared and partly funded by the INPDA.

The increasing number of potential therapies for Niemann-Pick diseases is creating a lot of hope in our family circles, but choosing whether to take part in clinical trials and judging what is best for our loved ones brings many new challenges for our community. NPUK will always provide accurate and reliable information about all potential therapies and the ‘Research Report’ (page Welcome to the new look 24) brings you up to date with the latest devel- NPUK newsletter! opments across the board. I hope you are encouraged by this report and understand that as Welcome to the new look NPUK a patient support group we have to maintain our newsletter! The Trustees are independence, impartiality, and be transparent in extremely grateful to Emma Hes- all we do. For this reason we cannot endorse or ling of ‘Bonafide Guests Only’ who, promote one particular trial above any other. along with her team, has worked pro-bono to create this iconic new Our 23rd Annual Family Conference was once branding on our behalf. The colour again a great success, and this year we took the scheme retains the warmth of our opportunity to celebrate 25 years as a patient former sunshine logo and I hope support group. Celebrations included a balloon you will embrace our new strong- release, birthday cakes, and a chorus of ‘Hap- er identity and see it as a symbol of py Birthday’ by all those attending. Looking back hope that will assist us in reaching a over 25 years, we have kept afloat our hopes and wider audience. dreams for the future, forged lasting relationships, and brought people together to form col- As part of the rebranding process, laborative networks and achieve great outcomes. we have also developed a new website and improved our social On page 57 you can read about our Big Lot- media sites. Many people have tery grant funded project and, in addition, I am helped us in this task and I would delighted to announce that we have also been like to thank them all for their hard awarded a grant by Children in Need to part work and effort. fund the role of our Clinical Nurse Specialist. 4 Autumn Edition NPUK News 5

These grants bring much needed financial stability over the next three to five years but, in return, we are required to provide evidence of the impact they have on our families. We have therefore chosen the ‘Outcomes Star’ process to measure the difference our care and support service provides to families. You can read about this on page 57, and learn how it can assist us in measuring the impact of our care and support service, as well as assist you by ensuring we are providing the services that meet your needs and expectations. In May this year, we commissioned an and the research, collaboration, and Organisational Strength Review; which services we provide could not be will feed into our next Strategic Review accomplished without the spectacu- Meeting in March 2017. It is at this meet- lar support of our families and friends. ing that we will set our objectives for the I would like to say a huge thank you to next three year period, which promises the many families and friends who take to be a challenging and exciting time for part in fundraising activities, make dona- NPUK, our families, and the whole rare tions, and manage collection boxes. Your disease community. However, just as we continuing support makes it possible to adapt and develop our services to meet sustain the services we provide and we the needs of our families so too must we remain extremely grateful for your con- adapt as a charity to meet and navigate tribution to our success. I would also like the challenges of the future. to acknowledge the extremely generous legacy of Miss Lorna Jane Mason that you We have developed an amazing group of can read about on page 54. Trustees and, in a planned change of role, I will be stepping down as Chair of NPUK I look forward to meeting as many at the AGM in November 2016. This will families as possible at the NPUK Christ- enable the appointment of a new Chair mas Party on December 3rd, I hope you to guide and lead us through the next can join us! You can find further details of stage of our development. It has been a this event on page…I would like to wish all huge privilege to serve as Chair of NPUK, our families and friends a happy and and I am extremely grateful for the help festive season of goodwill. I hope you en- and support that I have received from our joy reading this edition of the newsletter. Trustees and Staff throughout my tenure. I will continue in the role of Trustee and look We will look forward to hearing your forward to giving my full support to the thoughts and feedback on this new and next Chair, who will be appointed at the exciting format! AGM on 12th November 2016.

As usual, there are many brilliant fundrais- Dave ing stories in this edition of the newsletter David Roberts NPUK Chair 6 Autumn Edition NPUK News 7

25 Years: New Brand, Same Vision!

If you don’t already know this year marked 25 years of Niemann-Pick UK: a historic achievement which was celebrated during our Annual Family Conference along with our treasured families and amazing professional delegates...both who play a pivotal role in NPUK achieving success in our next 25 years!

You couldn’t escape the fresh and positive energy which resounded around the walls of Wyboston Lake’s Executive Centre, as with every turn that you took you could see something new...and we don’t mean John or Louise either! It was the new bright and breezy brand, something which is the product of three years of work from Team NP and Emma Hesling of Bonafide Guests Only – it’s truly sensational, and we sincerely hope you agree that it marks a significant upgrade Our Logo: This is often the first thing people see from the banner which we when they look up NPUK online, and it is also used in were working under previous- all of our publications, graphics, and merchandise – ly. It’s not that we want to throw so we felt we had to adjust it to allow for our brand to out everything from before, be up to date and modern. quite the opposite, we actually want to build on it so that we However you will notice that it isn’t entirely new, as can better deliver and promote it borrows it’s main inspiration from our previous the same vision which has sunny emblem. Instead of the yellow sun, we have a served us so well to this pres- brighter and more bold sun which reflects the hope ent time... we have for the future and the warm positivity which we see day in day out at NPUK. The most important changes you should be aware of are as We hope you find it as sleek and eye-catching as we follows: do! 6 Autumn Edition NPUK News 7

Our Website: Our website isn’t just a place where you end up after a Google search of Niemann-Pick Disease in the UK...it is much more than that – it is a bastion of information for our families and a way in which we can share our experiences, which is why we wanted to make sure that it is up to the minute and representative of our present standing. Along with an incredibly talented web developer, we were able to tailor this site to better suite you, our beloved community. One way (of many!) in which we will do this is to introduce active ‘Blog’ and ‘News’ sections on our site which will keep everyone up to date on recent events, new research findings, and...well everything! Take a look around for yourself at www.npuk.org.

Our Social Media: Our new branding has given rise to a new social media culture for NPUK. We want more interaction and more communication between our families – as this will better reflect the love and support which we display when we are with one another in person! We are actively trying to engage with our community, and will be designing promotions, series, and event graphics to better serve you in all that you do - after all, it is through social media, and an engaging online presence that we are able to better raise funds that will go to support those families that need it the most.

Our Name: Last, and most certainly not least – our name has changed! It may not seem like much, but we have adapted the rather clunky NPDG(UK) to NPUK, which is an abbreviation of Niemann-Pick UK. We did this for the simple fact that we want people to find us easily online, and spelling errors can often get in the way of that! But don’t be fooled, the name-change and all the above is meant to strengthen our current vision rather than replace it. We will be offering the same service, only better!

We hope that all of these points, along with our existing solid base of care, support, information, and research provision will help us to better interact with you, our community. If we achieve that then we will be incredibly happy.

We would love to hear your feedback regarding our new re-brand, so please get in touch with John our Social Media and Communications Officer at john@niemann-pick. org.uk with your valued opinions. 8 Autumn Edition NPUK News 9

Laura Bell: Clinical Nurse Specialist

Welcome to the autumn newsletter, it’s hard to believe that autumn is upon us once more!

I have been kept very busy over the past few months, particularly in September and October as the children start back at school for the new term. I am always keen to hear how the children are settling into their new class, so attending a school meeting or providing a teaching session to the staff on the condition and how they can support the child in school is the perfect opportunity to do this. September was also the 25th an- niversary of Niemann-Pick UK, and it was fantastic to see so many families join us at this years’ NPUK Annual Family Confer- ence held at Wyboston Lakes in Bedford- shire. As always the programme for the conference was excellent and we were fortunate that we had an array of great speak- ers from many corners of the United King- dom and the globe. It was also an exciting time as NPUK launched the new branding for the charity, which I am sure many of you just a chat then that can be easily may now have seen but please do check arranged. Or if you would like us to out the new website at npuk.org for the attend a meeting with you on your charity’s new look. If you weren’t able to behalf then please do get in contact and join us at this year’s conference and would we can also set this up with you. like to know more about it then please do get in touch. There has been a number of Clinic days held this year at the designated specialist As many of you know travelling around centres. On the 28th September at the the UK is a big part of my role, and the last Royal Manchester Children’s Hospital few months have been no different. I have we hosted a clinic day where a num- been very fortunate to travel around the ber of families came along to the clinic, UK meeting patients and families at their and joined us for lunch. We even had homes, or wherever has been convenient. I a special guest – Louby Lou the Clown also continue to meet with health care pro- who is a children’s entertainer, and did a fessionals at multi-disciplinary meetings great job of entertaining the children with and staff within the education setting. As singing, games, and balloon modelling. you know Elizabeth and I are always happy It was great to see the children enjoying to meet with you wherever you feel most their clinic day and that the parents and appropriate, so if you do require a home families had the opportunity to have a visit for advice, support, or perhaps even 8 Autumn Edition NPUK News 9

good chat with one another. Elizabeth and I also attended the Great Ormond Street Clinic day in October and again this was a fantastic opportunity to meet families. So as the nights begin to draw in and we get that little bit closer to Christmas, please do keep in touch at anytime.

Best Wishes, Elizabeth Davenport: Families Officer

Hello everyone,

Laura What a busy time it has been as of late! The NPUK Confer- Mobile: 0779149955 ence is already several weeks ago, and we are now quickly Email: Laura.bell approaching Christmas. For our community this can mean @srft.nhs.uk only one thing…our annual Christmas Party! This year it will be held in Birmingham, and as usual we would like as many families to attend – so make sure get in touch (you can find more details on page 35 of this newsletter).

Don’t forget that I am here to support you with non-clinical advice and guidance; such as benefits, housing, education, employment, and continuing health care plans. To be honest the list has grown over the years but contact me if you want to discuss absolutely anything - I am always here for you, and will gladly attend meetings with you as well as offer support where necessary.

From a benefit point of view, many adults are moving from Disability Living Allowance (DLA) on to Personal Independence Payment (PIP). This involves a telephone interview, writing out a new form, and sometimes an assessment with a health care professional.

This is a lot to do for any family so please contact me if you need any specific help with this. 10 Autumn Edition NPUK News 11

I enjoy seeing you all at clinic days and home visits so please keep contacting me if I can help in anyway. Otherwise I will see you at the Christmas party…I hope many of you are able to make it! Thank you, You can contact Elizabeth at any time by email at: [email protected] Elizabeth or by phone at: 07896 197576

Introducing our new Trustee: Joella Melville

We are happy to welcome Joella to our Board of Trustees - she had this to say about her appointment:

“I’ve worked with Niemann-Pick UK in a professional capacity since 2009 and joined as a Trustee in March 2016.

I’ve particularly focused on raising the profile of Niemann-Pick disease both in the UK and at an international level. This will ultimately speed up the time to diagnosis and allow earlier access to care, support and treatment, which can have a huge impact on quality of life.

My background is in health communications and I’m hoping to bring this experience and skill set to the team, which alongside my enthusiasm to help in anyway I can, will hopefully make a true difference to those affected by Niemann-Pick disease!” 10 Autumn Edition NPUK News 11

Introducing: John Lee Taggart

I’m the new ‘Social Media and Communications Officer’ for both NPUK and INPDA. You may have seen me around, but if not allow me to introduce myself…my name is John and I am beyond proud to be a part of the Niemann-Pick UK community:

I joined NPUK a few months ago to help manage the new re-brand, and it has totally flown over! The charity was undertaking some huge changes, and fortunately I was able to put my past-experience to good use by setting up our new website and developing all of the content in line with our new brand. To hit the ground running like that from the first day was fantastic, and something I am grateful to have been a part of. So just a little about my life before NPUK then…I come from a large family (I am one of five children), which is just as well as the NPUK community feels like an even bigger loving family! I graduated from Northumbria University with a bachelor of arts in English Literature, and also did an exchange year to Georgia State University. From those experiences I found I not only had broadened my mind, but I also had discovered my two central passions: Meeting people from across the world, and writing entertaining content! For years after this I worked abroad in various locations; China, Finland, South Korea, and more!

I began to document these exchanges on a website I had set up which quickly gained thousands of views and subscribers. I also began to write more extensively, and began editing written content for a number of high profile international companies. Sadly whilst in South Korea my dear grandfather passed away, and my youngest brother discovered that he had a rare disease which left him temporarily incapacitated. I knew that it was time to return – as family always comes first after all.

But now I knew what I wanted to do once I was back in the UK...I hoped to find a new position in which I could incorporate my writing skills, online prowess and love of people altogether…but is there even such a job? Does it even exist? Well, that’s when I went for the interview with NPUK…and the rest, as they say, is history!

I look forward to the future I can see on the horizon as I am already so proud of what I have been a part of so far; the re-brand, the new website, the interaction I see with our community online…all of it. Thank you to everyone for your warm welcome, I really appreciate it! John 12 Autumn Edition NPUK News 13

Introducing: Louise Metcalfe

We are happy to introduce Louise, who joined the team back in March of this year - we are sure we will make a positive change to NPUK! She had this to say regarding her appointment: “Niemann-Pick UK recently received a 5 year grant from the ‘Big Lottery’ to deliver more support to, and strengthen the resilience of, patients, parents, siblings, carers and other family members affected by this disease. In my role as ‘Project Team Leader’ I ensure we keep on track with the grant so that everyone is better equipped, both emotionally and practically, to deal with the significant challenges a diagnosis of a Niemann-Pick disease brings. So far I have been impressed with the personal care and support this incredible charity offers!”

You can contact Louise by email at: [email protected]

Goodbye and Good Luck to Sue Woodhouse

We are very sorry to announce that Sue Woodhouse, who has been an integral part of the NPUK Staff Team for ten years, has moved on to pastures new. Sue joined NPUK back in 2006 and has been part of our ‘Niemann-Pick family’ ever since. In June last year, Sue started a small business as a hobby, which has since grown into a very suc- cessful venture. Sue leaves us to concentrate on taking her business to the next level and I’m sure you will join us in wishing her every success. Sue had this to say on her time with NPUK:

“I am extremely sad to leave NPUK where I have felt part of the ‘family’ for so long, I have really enjoyed my ten years with the charity, especially getting to know the community and I send my best wishes to all”.

Sue will be a big miss and takes with her the thanks and best wishes of all at NPUK for her dedication and commitment to the charity, given over ten years of valuable service. THANK YOU Sue - lots of luck in your new venture! 12 Autumn Edition NPUK News 13

NPUK Annual Conference

Celebrating our community, with our community!

Every year we hold a conference which encapsualtes everything NPUK represents in one short weekend; both the loving care and support of our families, coupled with the highly important research and clinical care health professionals and scientists are working on day in, day out all across the world.

This conference was particularly special, as we were celebrating together as a community, 25 years as a patient support group! There was something for everyone; interactive workshops and talks from clinical specialists, children’s activities, and of course the news of our re-brand...and that’s only scraping the surface.

We asked members of our community to tell us what they thought of our conference, and what it means to them:

What Conference Means to Me: Harry Koujaian

I first attended the NPUK conference in 2015 to talk about my experience as a parent treating his daughter with VTS-270 on a compassionate use. I have “met” many of the NPC families through Facebook but it is always different (and better) when you meet them in person. You realize that our struggles are no different from each other. We all have the same concerns, same worries. We all try to do our best to stay afloat while dealing with this horrible and cruel disease. “You realize that our struggles are no different from each other”

The NPUK meeting was very well organized. The information was free-flowing and at a great pace. You never felt like you were getting overwhelmed. It was also great to hear other researchers and clinicians present their data and findings on Niemann Pick.

My personal highlight was meeting Gloria and Roy. Very inspirational couple that have been dealing with NPC for decades.

I just attended the 2016 NPUK meeting and was glad to see that things are still the same and well organized. I have made additional life-long friends, which also means additional audience for my jokes!

Looking forward to the 2017 meeting.

Harry Koujaian is father to Alec, and Hayley (who has Niemann-Pick type C). He fights for her life by pursuing investigational treatments and promoting research. 14 Autumn Edition NPUK News 15

What Conference Means to Me: Terry Colwell

The NPUK Conference for me, is something that I look forward to each year. When TJ was diagnosed in 2013, it was only a few months before the conference was being held. I will admit that when we first received the invitation to go we were very apprehensive about it…but we decided it would be nice to meet all the people we had been speaking to on Facebook - all the people that had been supporting us. Our first conference was very emotional, but amazing at the same time.

Everyone made us feel very welcome from the moment we walked in to the moment we left. We met some amazing people and amazing kids, and although we have all been thrown together through devastating circumstances, we have made some life-long friends. When people say it’s like a family, it really is. Every year we meet new families and even though we don’t ever get to meet in person until conference, it’s like we have known each other for years. I know that my kids love going and I before we know it we all have to go know that they are safe when they go home. That’s the worst part: saying out for their days out, which I know goodbye and thinking we won’t see they enjoy. The weekends for all of us most of these people until next year. are like an emotional rollercoaster, Yes we can talk on good old with highs and lows, but we all seem Facebook, but it’s not the same. to bounce off each other and together we are stronger. I particularly en- Toni and her team do such a won- joy the Saturday evenings, where we derful job each year to make sure all get to let our hair down and relax that everyone has a good time, and with the tombola, raffle and disco… I would just like to say a huge thank all while having a drink and getting you to her. maybe a bit too tipsy at times lol!

Then it’s all over in a flash, and Massive love to all the NPUK family xx 14 Autumn Edition NPUK News 15

My Conference Experience: Sandra Lawry

Last year was my first inkling of a ‘family’ out there who had an understanding of some of my life’s struggles. Those of you who met me will remember the EXTREME emotion I exhibited. I was completely overwhelmed but felt incredibly supported by all (and even that was overwhelming!) I felt enclosed by a big, warm blanket of supportive deliciousness!

It was also fantastic to hear stories which echoed my own experiences, and to see little folk who reminded me so much of my younger years. The experience was invaluable.

I was unable to attend this year because I’m embarking on the “Olipiudase Alfa” screening process. Unsure as yet whether I will qualify – the regime appears somewhat daunting and runs for a significant period of time. As I’ve managed to live these 63 years (albeit with many struggles) I don’t think I’d normally bother. However as they need as many people as possible in the trial, I remember those aforementioned little ones and feel that anything I can do to help may be useful.

So folks – I’m already very regretful that I wasn’t there, but I hope you all had an amazing time together, gleaning ever more information and support.

Thanks again for being there for me last year. I’ll never forget it – perhaps next year.

Love and hugs to all… Sandy xxxx 16 Autumn Edition NPUK News 17

John Lee Taggart: My First Conference...

Back in September we held a very special event – arguably the biggest and best in the NPUK calendar: the Annual Family Conference!

This is always a special time for a number of reasons, the most important being that it is the only time that we (the NPUK community) get together as one alongside leading health professionals from around the world! It’s a very unique opportunity for our families to spend time with not only those who are also affected by Niemann-Pick disease, but also with the scientists who are all working so passionately to find treatments which may someday help those with NPD. It’s a whole weekend dedicated to sharing experiences whilst developing your own understanding of the most recent findings current clinical trials have to offer. No wonder our families speak so highly of it!

But to make this event a reality, there has to be months and months of preparation down to the finest detail…some late nights, some extra weekends – and most defi- nitely the finest team of NPUK staff you are ever likely to see! I mean just look at us!

This year the schedule was busier than ever. We kicked things off on Thursday when we welcomed our fundraising heroes (scientists from University College of London and The University of Oxford) who were returning from their tiring 60+ mile walk from Oxford to Wyboston Lakes. We had drinks ready upon arrival to quench their thirst, ice buckets to ease their weary blistered feet, and most importantly “razzmattaz”. This was the subject of much debate, because no one was sure what exactly it was, but we were just told it was very necessary. Nothing need ever be a mystery any more thanks to the advent of the internet, so after a quick Google search we found out that it meant a ‘noisy, showy, and exciting activity and display designed to attract and impress’ – and so there we were with garlands around our neck, whistling, shouting and cheering. A touching (and very razzmattaz-ish) way to start the conference…whilst also letting our fundraisers know just how much they mean to us.

The next day saw the professional delegates sharing their most recent findings as well as their hopes going forward. At any opportunity I could I was sneaking in the back-door and listening to them. Despite the clear complexities that accompany these diseases, I want to better understand the science behind it so that I can have a more expansive grasp of what those affected by Niemann-Pick go through.

On Friday our families arrived, and the fun really started! As a former kindergarten teacher I really love spending time with the kids of the NPUK community – they are so vibrant and full of life, and always make me smile. At conference this was no different! If I wasn’t running from computer to computer trying to organise people’s new NPUK25 profile pics or assisting with keeping the conference running as smoothly as possible – you can be sure I was outside kicking a football around with my new little friends (and also wrecking my best dress-shoes…I’ll know to take some trainers next year!)

On Saturday morning I spoke alongside one of our trustees (Joella Melville) about our new fantastic re-brand, which was a central part of this year’s conference. 16 Autumn Edition NPUK News 17

After 25 years it seemed like the perfect time to do the big reveal! I feel it takes NPUK to the next level, and I really hope people like it; everything from the logo to the website I’m incredibly proud of the developments we have made, and seeing all of the banners, balloons and everything else was brilliant!

To make sure our birthday was celebrated in the right sort of way we had planned a huge balloon release for the Saturday night! Hundreds of balloons, and a whole lot of helium later and there we were…all together on the large stretch of grass right in front of the Executive Centre of Wyboston Lakes. The balloon release was a lovely moment, and one of the highlights of the weekend for me personally! As a community we were united, and that’s where we find the most strength. I was incredibly touched by the community – and felt incredibly fortunate to be able to spend time with such wonderful people.

That night thanks to the hard work of Toni (NPUK’s Chief Executive) we had a great seating plan for the evening meal. This meant that we were able to mix and mingle with both people we know and those which were to be new friends! I loved the people I was sat with, as there was a great energy around the table – we laughed and joked, and sometimes even cried…well I did anyway when there was no bacon bits with my pea soup! Dave (NPUK’s Chairman) spoke about how far we have came from our humble beginnings 25 years ago, and how positive the outlook is for our future thanks to both our families and the dedicated health professionals that were present in the room. We also had photographs looping on a slideshow which captured memories of old and new…a fitting tribute to our history...

You can read the rest of this article at: http://www.npuk.org/blog/john-taggart-first-npuk-conference/ 18 NPUK News 19 Rani Vonckx: The Road to Conference and more!

When I turned 18 my mom gave me a photobook with pictures from when I was born till now. I thought maybe it’s a good idea to tell you how Niemann- Pick changed my life while I’m going trough the pages of my photobook...

I was born the 19th of May 1998. I was a healthy little girl, at least they thought I was. My family loved me, I grew up in my dad’s bakery and most of the time I was smiling. When I was one and a half we went to the hospital because my little brother was born…it was then that I was diagnosed with Niemann-Pick.

The doctors noticed I was a little girl with a big belly and small arms and legs. First they thought I had leukaemia, but I didn’t. I had to go to the hospital a lot but a bit later it changed to once a year, however I don’t remember a lot of the hospital visits as a child.

When I was two and a half I went to school for the first time. I can’t really remember a lot of it because I wasn’t that old yet. I only remember that one day I was riding my bike to school and fell. It was then that we noticed I easily get bruises because of Niemann-Pick.

When I was three years old my parents got divorced. It didn’t bother me, and I can’t really remember what happened because I was that little I didn’t know what was going on, so I think I did care less about it. We moved to another town, and I went to another school.

I went to my new school, but I can’t really remember the first day. I think I just got used to it. This was the age kids in my class started to grow a little, but I stayed small. You also could see that I had a really big belly, but I didn’t care. When I was 5, I was still a bit smaller than the others. And the one thing I will always remember about me being 5 is that I had to wear these things that kept my trousers up. I wasn’t ashamed I had to wear them, but I also didn’t like it - just because I had to wear them and the other kids didn’t. So when we discovered the trousers with a stretcher, this problem was solved.

When I was six I went to primary school and played around with my friends. My belly was big and it didn’t stop me... but it also didn’t stop the bullying. The first year in primary school didn’t go that well. I remember playing around with my friends and suddenly I was pushed by a boy from the last year of primary school. My knee was bleeding and it didn’t stop. I went home and the next day the boy had to apologise.

I thought the second year of primary school was going to be better because the students of the last year were gone. Suddenly a boy yelled at me: “omg she has a bomb in her belly!” I was scared and crying. My granddad picked me up from school and I told him what happened. He said: “if that boy says that again, you tell him that when you feel like it’s going to explode, you’ll jump on his back so he explodes with you!” That made me laugh and I felt better. And yeah, the next day he said it again. But I was prepared. And the bullying stopped. 18 NPUK News 19

The years passed by and I liked So in 2011 we got the chance to go to going to school. The kids in my class the Niemann-Pick conference in Virgin- accepted me as I was and I had a lot ia, USA. I was so excited because I finally of friends. I started to grow a little, my had the chance to meet somebody just belly was still big, but it wasn’t that bad like me. I remember arriving at the hotel and as a child I still didn’t care anyway. where there were stars on the ground like in Hollywood, with the names of the pa- When I got older I started to ask my tients on it. We arrived at the hotel really mom some questions about my- late, so we had a little jet lag and sudden- self. Why was my belly so big? Why ly I met Sandy. I was so proud to meet was I different than others? My mom someone with Niemann-Pick. I also met tried to explain it in children’s lan- Rachel, who has Niemann-Pick type B guage. At that age I didn’t really get and is only one year younger than myself. it, but I knew there was something wrong with my liver and spleen. After the conference, we went to New York because I had to go through At the age of 10, 11 and 12, my life was some tests in Mount-Sinai Hospi- pretty normal. I did things normal kids tal. After the tests we got the chance did and I was doing fine at school. At to explore the city…it was awesome! the age of 11 I started to wear glass- es, but I liked it. As the years passed A month later, we got an email from by, I wanted to know more about Make a Wish. When they said to me: Niemann-Pick. Suddenly I asked my “What do you want? You can choose mom: “Is there someone like me here anything...” I didn’t know what I want- in Belgium?” No there wasn’t, just me. ed...so my mom helped me with 20 Autumn Edition NPUK News 21

some good ideas, and after a while I got my wish: To sing a song with a famous singer from Belgium! In November 2011 it was my Make a Wish day. We drove to a clothing store and I got to choose an outfit. We also practiced the song in a theatre, and after that we went for lunch. After lunch we went to the studio where we recorded a song together. When we were done we had a little photoshoot. It was a day I will never forget! Then I went to college; I kind of left my was fine, until I went to sleep. I woke up primary school friends behind and I the next morning and I immediately went went to a new school with only a cou- to the bathroom to drink some water – I ple of friends...which was like primary then noticed some blood on my face and school all over again... I thought this when I saw my pillow, I almost fell over. was the school where people were I ran to my mom and said “you have to supposed to have grown up...but become see this”. It was six o’clock in the cause of Niemann-Pick I started pu- morning and I had a school exam. We berty later and the other kids were went back to the dentist so she could stop all growing so fast...not that it both- the bleeding. I didn’t take my exam, but ered me that I was the smallest, but the school was fine with it, and I made up they also got an attitude, they got their for it afterwards. own meanings, and some were more popular than others...however I had In 2014 my mom participated in an or- two close friends who were as weird ganisation group for children with met- as me... abolic disorders. There was one year my mom started a campaign to collect The college I went to separated the money for this foundation. She designed first two years from the last four years, money-boxes and we spread them over so after two years we were split up... the whole of Belgium. After a month we again! When I went into my third year had collected 1350 euros, which is 1510 of college some really started to grow pounds, for the organisation. And I have up...I liked school as there was no bul- to say I was so proud of my mom! lying and I felt good. When I was 17 I entered the last year of Suddenly my family got a phone call college. I had a really big group of friends from a magazine company. They and I liked going to school with them. wanted an interview with us, and I think the last year of college was the when that interview was done we re- best one. It was then that we discovered ceived another phone call from anoth- Niemann-Pick UK, and I immediately er company…my story went through wanted to come to the conference. So in the whole of Belgium! September 2014 we came here for the first time... I really loved the conference; I When I was 15 I had to wear braces. met a lot of people, I met Sandy again af- As I previously told you I didn’t grow ter 3 years and I had a lot of fun. In 2015 very quickly, but neither were my teeth. we came to the conference again. Because of that I had to wear braces despite not all of my teeth falling out The conference was a weekend of me be- yet. Some of them had to be pulled out. ing myself. I always feel good surrounded So I went to the dentist and everything by people who are similar to me. 20 Autumn Edition NPUK News 21

The second time I came I met Isadora, and when I saw her I kind of recognised myself in her – it was just the way she was smiling and how she looks. When I went to college I made some really close friends, especially during the last two years of college as they helped me through everything. When I was sad due to my guinea pig passing away, they made me laugh. They helped me get over my heartbreaks because I was confused and sad as boys liked the popular girls and not me. They were always by my side through school so I didn’t feel lonely as we always had a lot of fun. They were always the reason the teacher had to shush me as I was laughing too loud.

This year I turned 18, and a week before my birthday this happened:

My mom made me think I had to go to the hospital. I woke up early and ate break- fast until my mom came in…to my surprise we went to a city where we had a little photoshoot, and after that we went for lunch. At the end of the day we went to a restaurant where my whole family waited for me to start a big party. It was the best birthday I’ve ever had, as well as a good ending to the school year!

In June my whole class graduated, everybody finished college without any trouble. We were all happy and proud of ourselves and deserved a holiday. A week later we got a letter from a hospital in Amsterdam: I had been selected to participate in a clinical trial. We still don’t know the results of the tests that I’ve been through but we hope the best. So yeah, I’ve known a lot of ups and downs in my life, but I’m happy I’m here together with my mom surrounded by some amazing people with a special place in my heart. Love Rani x 22 Autumn Edition NPUK News 23

Helen Carter: Hope for Hollie

An invaluable opportunity for the Hope for Hollie Foundation trustees: In September the Hope for Hollie trustees were delighted to once again have the opportunity to attend the NPUK family conference and there is always a real eagerness to attend. As a board of trustees they are always working so hard juggling full time jobs, their own family commitments with charity events, considering grants and charity governance. This is one of the rare times in the year when they can actual have an opportunity to feel part of the community, listen to the professionals and researchers and keep up to date, all of which is important when considering grant applications and representing the charity.

It is also a great opportunity for them to catch up with some of the families we have supported and hear personally what a difference funding has made to them. The trustees always come back from conference inspired and enthused helping to re-enforce the important role the Hope for Hollie Foundation is playing within the community. Diane Waller is one of nine Trustees and had this to say about conference ‘Attending conference is a very humbling experience. I get to meet the amazing families who have to deal with Niemann Pick every day. I get to hear about the huge advances in research but most importantly I get to see what a huge family the Niemann Pick community has become and they always make me feel so welcome’.

The Hope for Hollie Foundation is currently part funding the role of Niemann Pick UK family officer, something we are delighted to have be able to do for the past three years. Conference is a great opportunity to see first hand what a difference this role is having to families and to listen to Elizabeth presenting. As a grant funder for the 22 Autumn Edition NPUK News 23

Children and Young Person’s programme it is a delight to see the children having such fun during the weekend and being so well cared for.

The Foundation was set up with the aim of helping to make a difference through grant funding. The Foundation does not undertake any support services directly, our role as a grant provider is to enable organisations like NPUK to continue to deliver and enhance vital services, help support research, encourage community interaction for families and make it easier and quicker for families to access funding for vital equipment and care. I personally feel extremely privileged to not only be a Chair and Founder of the Hope for Hollie Foundation but also to be a Trustee and Vice Chair of Niemann Pick UK. Working with such an inspirational team of trustees, volunteers and staff is an honour and conference emphasises just how, through working together, we are really helping to make a difference to the lives of those affected by Niemann-Pick Diseases. The Foundation has provided a variety of grants already this year ranging from garden adaptions, to specialist seating and equipment. We offer grants directly to families who have a loved one affected by NP-C. If you are looking for funding to assist with the purchase of any vital specialist equipment, adaptions around the home or any other social or medical need please get in contact with us directly by emailing info@hope- forhollie.co.uk or speak to Elizabeth Davenport for more information or help with grant applications. Helen [email protected] 24 Autumn Edition Research 25

Research Report: Bill Owen (NPUK Research Coordinator)

Moving forward with clinical trials:

Our efforts to combat Niemann-Pick diseases in the coming months and into the future require that we take a wide view of what needs to be done and, what can be done to develop effective therapies that can offer -im proved quality of life and longevity to our family members affected and, concurrently, to prevent or reduce the incidence of the diseases to pro- tect future generations.

With clinical trials for NPB and NPC now at an advanced stage of recruitment and with other treatment options under active investigation, we must now await for the trials process to take its course whilst we anxiously monitor progress and outcomes.

Good evidence exists in relation to the issues of drug safety and tolerability but efficacy remains to be demonstrated. In many respects every family is different with regard to their expectations as to what their chosen treatment can achieve. We all hope for clinical improvements and at a minimum, that disease progression will be arrested. How this is measured and assessed is not simple and results are likely to take many months. We should remember too that in the drive for trials recruitment, there is always the ‘do nothing’ option and continue with symptomatic treatments and palliative care. All of our decisions are difficult.

Research progress:

This year’s scientific conference held at Tucson in memory of Michael, Marcia and Christa Parseghian provided emphasis on the need to progress NPC research. This annual event is hosted by the Parsegian Foundation at Tucson, USA and held over four days. It is a great credit to the family and their supporters that they have continued to raise funds for NPC research even after the deaths of their own children.

Their efforts have accelerated the scientific knowledge of NPC from a barely studied rare genetic disease to one now internationally studied that continues to provide new insights into the workings of that remarkable organism, the cell. 24 Autumn Edition Research 25

There were over 28 given presentations supported by 48 poster presentations covering Research Report: Bill Owen (NPUK Research Coordinator) most aspects of NPC research. Basic science/diagnostic research was well represented and after a wait of nearly 20 years since the NPC1 gene was identified, we heard about the three dimensional structure of the NPC1 protein. This, to me, is a milestone in the history of NPC research. It is difficult to predict how this will assist new studies but already links between the protein and the Ebola virus have been made. Perhaps this will soon extend to the tuberculosis bacteria where there is a known connection.

Knowing the NPC1 structure will also assist in identifying interactions with other pro- teins in the cholesterol trafficking pathway, especially NPC2; assist in understanding of why other metabolites are stored in lysosomes – a good example being zinc which is thought to be a common storage problem no matter what mutation of NPC1 is present. The understanding gained will likely point to underlying toxicity and cellular pathology that cause cell death. This in turn allows the identification of new targets for therapy that could improve on current solutions.

Although an important step has been taken I finding the 3-D NPC1 structure there are many questions to be answered, as yet, unresolved. Although progress has been remarkable it appears slow to us as families but we should remember that the scientific studies taking place are at the very forefront of medical science knowledge and that is a difficult place to be.

Old ideas revisited:

Gene therapy was once thought to be the only viable solution to genetic diseases. That was over 10 years ago and unfortunately some experiments ended badly causing the medical regulators to suspend further studies. Currently, the technology has made important advances that mean it is once more, a viable option. The problem remains with neurological diseases that symptoms do not show until irreparable damage has taken place. However, if the disease presence can be detected early enough, that is prior to the appearance of symptoms, it may be a viable option to use gene therapy at this early stage.

As usual NPC, being a membrane bound protein, reveals itself to have additional problems to resolve. Reaching all cells of the brain may not be possible once the brain development is at or near completion. The hope remains that if the technology can do the job, introducing it at the newborn stage while the brain is growing may mean that the corrective gene gets into all or most of the dividing cells, in both neuron and glial populations. Studies are currently taking place in the UK and the USA to look at the issues associated with this approach.

With current approaches to diagnosis, in general the earliest point for disease detection would be at birth. Newborn screening (NBS) is now a realistic possibility and, reliable biomarkers of disease for both NPC and NPB have been identified - the NPB test has already been implemented in some states in the USA. Having such a test carried out for all newborns will be a challenge as the requirements for population screening are stringent. The test would be an addition to the heel prick test menu currently used to detect a number of rare conditions. The introduction of this test will be our next objective. 26 Autumn Edition Research 27

One potential obstacle is that newborn screening requires ant an effective therapy to be available. How this is interpreted is unclear, especially in a dynamic research environment such as exists for NPC where new therapies are emerging on a regular basis. Newborns with NPC detected early would benefit from new therapies becoming available some time after birth but only if they have a diagnosis. As we know, in the usual course of events diagnosis can take many years especially for late onset disease, and the opportunity for most effective intervention would be lost. In addition, and of equal or greater value importance, detection at birth of a disease such as NPC would alert families to the problem and they would avoid having multiple children with the disease. I have carried out a superficial evaluation of how many children could be prevented from having the disease based on records listed in the Family Directories for NP-UK and that of the NNPDF. My initial estimate is that at least 25%-40% of NPC births could have been avoided if a NBS test had been available. Bill Bill Owen NPUK Research Coordinator 26 Autumn Edition Research 27

Clinical Trial Updates

CTD Holdings Announces FDA Acceptance of Investigational New Drug Application for Treatment of NPC With Trappsol(R) Cyclo(TM)

ALACHUA, FL–(Marketwired – September 06, 2016) – CTD Holdings, Inc. (CTDH), a biotechnology company that develops cyclodextrin-based products for the treatment of disease, today announced that the US Food and Drug Administration (FDA) has cleared its Investigational New Drug application (IND) for its orphan drug product Trappsol® Cyclo™ in the treatment of Niemann-Pick Type C (NPC) disease.

“We are pleased to see Trappsol® Cyclo™ moving into its first formal clinical trial,” said N. Scott Fine, CTD Chairman and CEO. “With patients soon to be enrolled in the US, and with the Phase I/II Clinical Trial Application under review in the UK, this is an exciting time for our company and all stakeholders, and most importantly for the NPC families who are waiting for approved cyclodextrin-based treatments.”

You can read more at: http://inpda.org/ctd-holdings-update-on-trappsol-cyclo/

Update #10 on the AIDNPC clinical programme (Arimoclomol in treatment of Niemann-Pick disease type C)

Orphazyme ApS shared the following update on the recruitment into the ‘-001’ and ‘-002’ Studies was presented. In the ‘-001’ Study, 2 more patients enrolled in the last weeks (1 in Rome and 1 in Zaragoza) for a total of 35 patients that now have enrolled to date at 12 European sites. In the ‘-002’ Study, still a total of 3 patients have been enrolled to date at the following site: Copenhagen, Denmark. 28 Autumn Edition Research 29

Orphazyme reports that is it progressing well with all the authorities and announced last week at the 23rd Family Conference in Bedfordshire, UK, that expectations are that the Birmingham site will be opened on September 28th and that the GOSH site in Lon- don on October 13th. The company further expects to have all sites, including at least two new sites in the US, to open for access to the ‘-002’ Study during the remainder or the year, allowing patients currently in the ‘-001’ Study to transfer and new patients to enrol.

You can read more at: http://inpda.org/orphazyme-update-10-on-the-aidnpc-clinical-programme/

Perlara and Novartis join the fight against Niemann-Pick Disease:

The Perlara Drug Discovery Platform is based on creating disease models using simple animals that share genetic similarity with humans, allowing them to screen massive numbers of disease models and drug candidates quickly and at low cost.

Perlara uses the gene-editing tool CRISPR to generate model organisms, such as fruit flies, and worms, that feature the mutation driving a particular rare disease. They have recently focussed on Niemann-Pick type C (NP-C) disease, achieving promising results and gaining the support of Novartis in further developing the lead NP-C compound, which is currently being tested in mice.

To learn more about Perlara, visit https://www.perlara.com/ Read their latest press release: https://cen.acs.org/articles/94/i42/Perlara-signs-rare-disease-pact.html 28 Autumn Edition Research 29

Sanofi Genzyme Begins Pivotal Phase 2/3 Trial of Olipudase Alfa for Adult Patients with Acid Sphingomyelinase Deficiency.

Sanofi Genzyme, the specialty care global business unit of Sanofi, announced recently that the first adult patient had been enrolled and dosed in a pivotal Phase 2/3 clinical trial named ASCEND for the investigational therapy olipudase alfa. Olipudase alfa is an enzyme replacement therapy being studied for the treatment of nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann- Pick disease type B (NPD B).

ASCEND is a Phase 2/3 multi-national, multi-center, double-blinded, placebo-con- trolled trial to evaluate the efficacy, safety, pharmacodynamics and pharmacokinetics of olipudase alfa administered intravenously once every 2 weeks for 52 weeks in adult patients with ASMD, specifically NPD B. The Phase 2/3 trial will assess the effect of olipudase alfa on spleen size, lung function and other important clinical parameters. Thirty-six patients are expected to be enrolled in the study and receive olipudase alfa or a placebo. Upon completion of the 52 week primary analysis period, all patients will receive treatment in an extension period.

You can read more at: http://inpda.org/sanofi-genzyme-begins-pivotal-phase-23-trial- for-asmd/

The Quinn Madeleine Foundation has partnered with Baby Genes Inc. to provide diagnostic carrier screening at no charge to hundreds of people impacted by Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Types A & B, a severe lysosomal storage disorder.

Baby Genes’ gene sequencing technology provides accurate, efficient results identifying any disease-causing mutation, not just the common mutations recognized by traditional carrier screenings. Today there is neither treatment nor a cure for NPA. 2 0 1 6

Just a few of our most special moments from this past year...thanks to everyone who made 2016 a one to remember! 2 0 1 6

Just a few of our most special moments from this past year...thanks to everyone who made 2016 a one to remember! 32 Autumn Edition Research 33

Providing access to this test will enable prospective parents to make the best, most in- formed decisions in their family planning. “Our unified goal is to facilitate the discovery of new molecular targets and provide actionable information to those bringing new therapy options to patients and families,” said President/CEO of Baby Genes, Inc. Rich Sjogren.

The program is currently open to any family member of an affected child, though it intends to go further. “The long-term goal is to consider the possibility of an ethnicity pattern, identifying a higher-risk general population and offering more widespread screening,” says Eileen Linzer, Co-Founder & Executive Director of The Quinn Made- leine Foundation. Clients screened are asked to complete a self-reported Ethnicity Survey to assist in this research.

You can read more at: http://inpda.org/the-quinn-madeline-foundation-establish- es-first-ever-niemann-pick-diagnostic-carrier-screening-programme/

Vtesse Announces Dosing of First Patient in Germany for Phase 2b/3 Clinical Trial of VTS-270 in Niemann-Pick Type C1 Disease.

Vtesse, Inc., a company committed to developing drugs that will benefit patients with extremely rare, life-threatening diseases, announced today that the first German patient has been dosed in its global, pivotal clinical trial of its investigational drug VTS-270 for Niemann-Pick Type C1 disease (“NPC”). VTS-270 is a well-characterized mixture of HPbCD with a specific compositional fingerprint that distinguishes it from other HPbCD mixtures.

Prof. Dr. Thorsten Marquardt, Head of Metabolic Disorders, University Hospital Mün- ster, and the study’s lead principal investigator in Germany, noted: “The current clinical program with VTS-270 is aimed at treating the neurological disease that is the primary cause of mortality in children with NPC. Based on preclinical data suggesting that HPbCDs may not cross the blood brain barrier, it is important that we administer the drug through a lumbar puncture to increase the likelihood that the drug can address the neurological symptoms of NPC at doses that will be well tolerated.” Prof. Dr. Julia B. Hennermann, Head of the Working Group for Lysosomal Storage Diseases at the University Children’s Hospital Mainz (known as Villa Metabolica) at the Johannes 32 Autumn Edition Research 33

Gutenberg University Medical Center, dosed the first German patient in the trial. “I’m very happy to be part of this important clinical study, through which we are evaluating the intrathecal use of VTS-270 in children with NPC,” she said. “There is a desperate need for more approved therapies that can arrest the neurological disease associated with NPC. As a clinician and based upon the encouraging Phase 1 clinical data, I am hopeful that VTS-270 can fill this need.”

You can read more at: http://inpda.org/vtesse-announces-dosing-of-first-patient-in- germany-for-phase-2b3-clinical-trial-of-vts-270-in-np-c/

Clinical Research Studies

Acid Sphingomyelinase Deficiency (ASMD)/Niemann-Pick Type B (NPD B) Patient- Reported Outcome (PRO) Development and Validation:

There are currently no ASMD disease specific PRO instruments, and while there is limited PRO-based evidence in ASMD studeis, there are known limitations of generic instruments in providing useful quantitive data. To address this need, Sanofi Genzyme has initiated a project for developing PRO measures for patients with ASMD. This work aims to understand the disease impact and/or value from a parent’s perspective. For further information, and to learn how to get involved email [email protected] (once your eligibility has been established, you may be enrolled in the Qualitive Research Study.

Development of health-related quality of life scales for patients and parents affected by Niemann-Pick Disease Type C (Aston University, in Birmingham):

Niemann-Pick UK is supporting Aston University in undertaking the above named research study that aims to bring benefits to the NP-C community. The study, which is open to NP-C patients aged 0-12 years and their parents, has the appropriate UK ethical and R&D approvals and is now recruiting across the global community. Your participation could help to make a difference to the future of care and treatment for NP-C; you can learn more about the study by visiting www.npuk.org or by contacting the study coordinator, Lydia Aston by email [email protected] or by telephone 07702 160 646.

The Peter Carlton Jones Memorial Award 2016 We want to say a huge congratulations to Michael Hughes (University College London) and Stephanie Newman (University of Oxford) who were awarded the prestigious ‘Peter Carlton Jones Memorial Award’ at this year’s NPUK Annual Family Conference.

For those that don’t know, the ‘Peter Carlton Jones Award’ is an annual award of up to one thousand pounds which is made to individuals who are engaged in either research, teaching, treatment or care, within the public or private sectors in the United Kingdom. The award is granted in response to the submission of a ‘research project’ which provides an original contribution to the scientific or public understanding of the Niemann-Pick diseases and/or their treatment or cure. 34 Autumn Edition 35 Our Events: The NPUK diary has been simply bulging with activity so far this year; of course we celebrated 25 years as a charity at the NPUK Annual Family Conference ...but that only scrapes the surface! Read on to see what we have been doing, and what we have coming up...

Chester Zoo:

In July we went along to Chester Zoo for a fun- filled weekend of smiles, laughter, and...animals! Just like every other time we get together, it was a special time – and even the little bit of rain that threatened later in the day couldn’t dampen our spirits!

Although NPUK had been to Chester Zoo before, for many people it was their first time – and they were clearly blown away by the experience, and why wouldn’t they be?

It boasts over 20,000 animals all within 125 acres of award-winning zoological gardens, and wel- comes approximately 1.6 million people every single year, which may be why it is thought of as one of the world’s top zoos…and undoubtedly the UK’s number one wildlife attraction! This made for a perfect backdrop to have some great quality time between families and NPUK staff, something which sadly only happens a few times a year.

Those who stayed at Forest Hills (Best Western) on the evening(s) were very impressed by the service that was provided; as the staff were incredibly accommodating for each and every individual in our group. We have been sure to leave a positive review on their site, as they truly deserved it! We will be sure to return their in coming years.

We hope those who attended the weekend enjoyed it as much as we did! 34 Autumn Edition 35 DON’T FORGET: the NPUK Christmas Party (3rd December 2016)

As always we will be holding the NPUK Christmas party at the start of December! It promises to be a fun time in which our community can come together and enjoy the festive season in all its glory. We hope as many as you can make it as possible, after all Santa Claus and his elves have been working very hard in order to make all of the arrangements possible! We will have activities, games, food, and...well of course...presents!

The Christmas Party will be held at the Manor Hotel Meriden, The Best West- ern Plus Manor Hotel, 127 Main Road, Meriden, Solihull, West Midlands, CV7 7NH on December 3rd, from 11am till approximately 3pm. Please confirm your place so that we can have everyhing set up for your arrival, we look forward to seeing you all there!

As always for further details you can email us at [email protected] or call 0191 415 0693 Day at the Photo-Shoot! Back in late July NPUK staff, friends, and families all came together for something a little different …a photo-shoot for our new re-brand! Our families are the most important people to our charity, and we value and treasure them every day…so it’s only right that we had a number of them involved in this day; the Pynes, the Coombes, the Evans family, and the Neals all came through to offer their model-services! Our staff models for the day included Toni (NPUK Chief Executive), Laura (NPUK Clinical Nurse Specialist), Elizabeth (NPUK Families Officer), and John (Social Media & Communications Officer) who all wore their best clothes and pulled their best poses in the beautiful studio and surrounding gardens.

We wanted to have photographs at our disposal that better reflect our loving community, one which supports and cares for each other – and we feel that is what came through that day. We laughed and joked, hugged and chat- ted, and in the end have some spectacular images which you will have likely already seen on our new NPUK banners, leaflets, and website…and of course, on this new-look issue of the newsletter!

We want to say a special thank you to Emma Hesling, Miriam Evans, and of course the photographer Kayti Peschke for her amazing work – it is truly appreciated. 36 Autumn Edition Our Events 37

First Aid Workshop

Earlier this month, on the 12th November, NPUK hosted a free first aid awareness workshop for our community at the Best Western Plus Manor Hotel Birmingham.

The workshop, which was facilitated by Kingsman College, was for those whose lives are directly or indirectly affected by Niemann-Pick disease, including; parents, carers, and extended family members (over 16s only). After the success of our last first aid awareness session, back in March, it was decided that another should be in place so that even more members of our communitycould receive vital assistance. The core aim of this workshop was to teach those who attended how best to prepare for medical situations, and show the best way in which to treat them.

Over the course of the session the attendees were given an outline and awareness of the most common type of injuries and conditions for those individuals who have Niemann-Pick disease – which included lessons on how to respond to both minor and life-threatening injuries, including basic life support, choking, and burns. More specifically the workshop covered:

- First Aid Priorities

- Managing Incidents

- Basic Life Support

- Recovery Position

- Control of Bleeding

- Burns and Scalds

- Unconsciousness

- Epilepsy

And much, much more!

We were are very happy to note that there was an incredibly positive response from our community, who remarked on how a lot of the advice given would help in many ways in their day-to-day lives. This was exactly what we were hoping for, so it encourages us to put on more of these workshops in coming months.

Thank you to everyone who attended, and watch this space for further details of upcoming first aid awareness workshops.

You can always contact Elizabeth for further details on the subject by email at: [email protected] or by phone at: 07896 197576 36 Autumn Edition Our Events 37

Global Niemann-Pick Awareness Month

October marks ‘Global Niemann-Pick Awareness Month’, and is a fantastic opportunity for individuals all over the world to come together for a shared cause. After all Niemann-Pick disease doesn’t discriminate; it can affect people from all countries and cultures, which is why unity in the face of such adversity is so incredibly important.

The International Niemann-Pick Disease Alliance (INPDA) is a great example of how a global community can help raise further awareness, as there is a strength in banding together under one banner. This group, a collection of fourteen different Niemann-Pick charities (Argentina, Austral- ia, Brazil, Canada, China, France, Germany, Italy, The Netherlands, Norway, Spain, Swit- zerland, UK, and The USA) joined together back in 2009, and have since been meeting regularly to share new research from each respective member country, along with their own individual shared experiences, to better understand a condition which remains very rare.

The spirit of INPDA, one of togetherness and mutual goals, is something which breathes through the month of October with a new life – and it is our hope that an increased presence across social media, thanks to your own involvement will serve to further increase awareness and reduce the isolation that many can feel when faced with a NPD diagnosis.

But whether it’s ‘Global Niemann-Pick Awareness Month’ or not, we should all remember just how important awareness is to our collective future…after all, awareness drives donations, donations drive research, and essential research will ultimately find effective treatments and hopefully someday a cure for Niemann-Pick disease. Together we are stronger, and together we can make a huge difference.

To the right you can see just a couple of our social media posts from NPD Awareness Month. We hope you liked them! 38 Autumn Edition 39

ITV’s ‘The Chase’ - Chelsee Healey

The new series of ITV’s hit game show ‘The Chase’ got off to an incredible start last month…the actress Chelsee Healey featured alongside a few other familiar faces and named Niemann-Pick UK and Pride in Lleyton as her sponsored charities. As you can imagine we were absolutely overjoyed here in the NPUK Central Office, after all this television programme gets well over three million viewers and all of them would be hearing about our charity and Niemann-Pick disease.

Left to right: Colin Baker, Chelsee Healey, Bradley Walsh, David Weir, and Alex Horne. Chelsee is an actress, probably most well-known for her role as Janeece Bryant in Waterloo Road from 2006 to 2012. However she has also appeared in shows such as Casualty, Strictly Come Dancing, and Hollyoaks. She has been connected with NPUK for a few years and even attended our Christmas party in 2010 much to the children’s excitement!

We were first alerted to the fact that Chelsee would be appearing on The Chase by Joanne Coombes at Pride in Lleyton, of whom Chelsee is a regular supporter, and it is safe to say that the whole NPUK community were glued to the television set as Chelsee and the rest of the team (which included Colin Baker, David Weir, and Alex Horne) entered into an intellectual battle of wits with the infamous ‘Chaser’! They certainly did us all proud. So we want to send a huge thank you to Chelsee and the rest of the team for raising awareness and funds for NPUK! 38 Autumn Edition Our Fantastic 39 Fundraising Heroes! We are so proud of the amazing efforts of all our NPUK fund-raisers... here are just a few: Cardiff Half Marathon:

We want to say a huge well-done to Emma Powell-Buckley who ran the Cardiff Half Marathon on behalf of Sophia Clarke, who has Niemann-Pick type C. Emma supports Sophia and is constantly blown away by her warm and loving outlook despite her obvious struggles. Emma admitted that she isn’t the biggest fan of running but wanted to dedicate herself to taking part in the event to raise funds for NPUK and show how much she has been touched by Sophia’s attitude to life. In the end she raised almost DOUBLE her original target of £100…well done Emma your effort is hugely appreciated! Tough Mudder:

This is dubbed as “probably the toughest event on the planet”, and with good reason! It’s a tough slog from start to finish; 10-12 miles of gruelling trials, military style obstacles, and tests of both mental and physical strength. It’s certainly no walk in the park…

But our spectacular fundraisers, including Miriam and Will Evans, as well as a number of others, dug deep, and all finished the course…showing that when it comes to raising funds and awareness for NPUK they really mean business!

Riding for Ruby:

On Sunday 2nd October, Charlie and some of his friends attempted a 25km ride around Rother Valley Country Park to raise money in honour of his cousin Ruby. This was an incredibly touching story, which really amazed each and every member of our community - the social media post announcing the news became one of our most shared posts that week by a large margin! They raised over their target with a spectacular £560...absolutely brilliant! 40 41 Ellie Timms (Australia):

In what was a hugely unexpected story we received an email from out of the blue from Eleanor Timms, who is currently on a working holiday all the way in Australia! After learning that someone she works with is married to a man with Niemann-Pick disease, and hearing of her struggles, she was inspired to make a difference and raised just over her target in a local sponsored run.

This was doubly powerful as the news came at ‘Global Niemann-Pick Disease Awareness Month’, and so was a fantastic example of how we can all come together as a community, no matter where we are in the world, to make a real difference. Well done Ellie, we really appreciate your great effort!

Mucky Mountains Morris & Friends:

This was something completely different, and shows the diversity of our community and our fundraising efforts! Mucky Mountains Morris & Friends, got together and danced their way to over £300 in donations for Niemann-Pick UK! The money was raised during a wonderful weekend of dance in St. Helens as one of the esteemed team members, Helen Valentine, is aunt to Matthew (aged 7, NP-C). Such a terrific (and unexpected!) way in which to raise money for a good cause!

Melfest 2:

In a small rock bar in the centre of Newcatle Viki and Melanie put together the second ‘Melfest’ event, which was yet again focused on one thing: rock music as a unifying force for good!

There were seven live sets in total, and this made for an incredible buzz as the musicians and fans alike celebrated late into Saturday night! There were wide smiles, tears of joy, and countless shred- ding guitar solos…and by the end of it all thanks to everyone’s generosity ‘Melfest 2: Highway To Mel’ had raised more than £1,500 for NPUK. The third and final Melfest, entitled ‘Mel ain’t a Bad Place to Be!’ will be held on July 8th 2017 at Trillians yet again. We are really excited for it, as it’ll surely be yet another rocking success! 40 41 Team Roman:

Team Roman…we could likely fill up a whole issue of the NPUK Newsletter with all of the positive things they do to both raise funds and awareness for Niemann-Pick UK! Everything from their own events such as the ‘Roman James Charity Foot- ball Match’, fundraisers from their friends such as Toby and Tyler (who ran the Vitality Oxford half marathon), and their overall interaction with the community. We feel very fortunate to have such driven and determined individuals as part of our NPUK family. Huge thank you from everyone at team NPUK!

Great Wall of China:

Another global effort which took place during ‘Global Niemann-Pick Awareness Month’ was both an amazing feat and trip of a lifetime! Jen, Mike, and Susie Elliott flew out to China in order to trek along the Great Wall of China in its en- tirety in order to raise money and awareness for Niemann-Pick UK. This rigorous trek was in loving memory of their wonderful daughter/sister Kate Elliott, who had Niemann-Pick Type C and sadly passed away five years ago aged just 27 years old. This amazing family keep a fire burning which proves Kate may not be with us anymore, but is never forgotten.

British 10K London Run:

We had a whole host of amazing people running in the name of NPUK on the world’s greatest road race route: ‘The Vitality British 10K London Run’! It was truly incredible, and we feel very fortunate to have such committed and driven people supporting us in all we do.

This event is especially noteworthy as it takes place in such a public place and is heavily reported in the media – which means thousands of eyes were on our NPUK supporters. Here our runners proved, as they do every year, that fundraising can be fun too! Stephanie Newman, Stefanie Rymsza, Nathan Yilmaz, Beccy Cartwright, Jackie Imrie, Elizabeth Scowcroft, Sue Gregory-Skipper, Imogen Skipper and Paul Jopling - from everyone here at Niemann-Pick UK, THANK YOU! 42 Autumn Edition 43 65 Mile Sponsored Walk:

We are so proud to have amazing scientists working towards potential treatments and therapies for Niemann-Pick disease…but even more proud to have amazing scientists who actively fund-raise on our behalf!

The team for this tough fundraiser were made up of scientists from the Department of Pharmacology at the University of Oxford and UCL, and included; Fran Platt, Ahad Rahim, Danielle Taylor Vruchte, Michael Hughes, David Priestman, Claire Smith, Paul Fineran, Ecem Kaya, and Dave Smith. It was a fantastic vision of the future of Niemann- Pick research and development…by those working towards it!

In the end they absolutely smashed it, and successfully completed the 65 miles in just over three days – raising a combined total of £1,355 in the process. They were cheered across the finish line by members of the NPUK community at this year’s Annual Family Conference as we were all incredibly proud of theirefforts (and sorry about the sore blistered feet, ouch!) Kirsty Lang’s Gang:

We want to send a special thank you to Kirsty Lang and her amazing little helpers, Alfie and Lilly, for their great work fundraising last month! They raised over £70 in just a few short hours – by taking collections, selling NPUK merchandise, and other items. Kirsty had this to say about the day: “I’m so proud of my little helpers, an also I’m very proud of the support of New Chapter School for their support.” Thank you for your efforts Kirsty!

Fit Figures:

Thank you to all who joined in Geri Fitzsimon’s “Fit for Sam” fundraiser – as with generous matched-funding from Santander, the total raised amounted to a jaw- dropping £8090.28! A true reflection of the hard work of Geri, her family, and friends who all gave their time to help NPUK. An incredible effort from all involved! Thank you so much Fit Figures!

Eleanor’s Halloween Fundraiser:

Eleanor Stevenson, mother of Callum Stevenson (NP-C) put on a Halloween themed fundraiser in support of Niemann-Pick UK. There were activities, games, food… and of course, fun! Events like these are great ways in which people outside of the community, can come along and learn about Niemann-Pick disease and NPUK in a safe and warm environment – Eleanor your efforts are truly appreciated! 42 Autumn Edition 43 Upcoming Runs & Races!

For all of you would-be fundraising heroes out there we have some spectacular news! Below you will find a whole host of different ways in which you can get -in volved – by taking part in some of the most prestigious runs and races in the whole of the UK. However the places are limited, so get in quick to be sure of a spot: contact us by email at: [email protected] or phone: 0191 415 0693.

You can check out the 2017 runs and rides below:

London Marathon (23rd April)

Without a shadow of doubt the London Marathon is one of the greatest marathons in the world! Aside from the prestige of the name itself, there are many reasons why many believe this to be the case; there’s the world famous sights which are dotted along every part of the course, the thousands upon thousands of cheering spectators, as well as millions of people watching on TV throughout the world…and lastly the ca- maraderie of the runners who run in support of charities, some big and some small.

More than three quarters of competitors now run for a good cause and a third of all entry places are offered by charitable organisations…and this time around NPUK have been fortunate enough to get a ballot place for 2017! Our runner this year will be Dafydd Taylor - we wish you the best of luck!

Great North Run (10th September)

This is a HUGE event…and we’re not just saying that because it takes place close to the NPUK central office either! The Great North Run is the second largest half marathon in the world, taking place annually each and every September. The track takes you through Newcastle, Gateshead, and South Shields with a number of local landmarks amongst the thousands of cheering people along the way.

You will be competing alongside the likes of athletic superstars such as David Weir and Mo Farah – perhaps you will be the one to stop him from having another win (he has placed first in the last three Great North Runs!) But wherever you place it is not important, as you will be running in support for Niemann-Pick UK to raise essential funds and spread awareness throughout the UK and beyond.

There are a limited number of places, so please get in as soon as possible if you are interested! 44 Autumn Edition Fundraising 45

Prudential RideLondon-Surrey (30th July)

Well now for something a little different…the Prudential RideLondon-Surrey! Now this is not for the faint-hearted, but is a tremendous test of endurance and is something which can be worn as a badge of honour once you complete it. To put it simply it is the world’s greatest festival of cycling, in which more than 100,000 cyclists battle it out for glory – all whilst trying to put the aching limbs that undoubtedly go with it out of their minds. It combines the fun and accessible element of a free family ride in central London with the excitement of watching the world’s best professional cyclists race. Taking a cue from the London Marathon, amateur cyclists also participate by riding a 100-mile or 46-mile challenge on the same closed roads as the professional men, with the added incentive of raising money for good causes, such as NPUK. We had great success this year, and were very proud of Issie and Jamie who took part on behalf of Niemann-Pick UK – for more information, and to possibly join them in our fundraisers hall of fame, then get in touch with us to book your place! 44 Autumn Edition Fundraising 45

Great Manchester Run (28th May)

Another fantastic one to get involved in is the Great Manchester Run! Established back in 2003, it has already picked up a lot of media attention as it is the largest of its type in Europe – welcoming close to 30,000 participants every single year. A lot of celebrities have competed in past runs and continue to put their name down year in, year out; Kelly Holmes, Amir Khan, and a number of the cast from Coronation Street have all at some point taken part…and you could be next to join them!

It also serves as a great way to see a city that is steeped in history and fine architecture. The course itself starts and finishes in the city centre of Manchester (Portland Street); and then heads southwest out of the main city down the Chester Road. Runners then enter Trafford and pass the legendary Old Trafford Stadium…pushed on in no small way by the thousands of cheering fans at the roadside! The course then loops around Trafford Park, past the well-known Coronation Street Set and the Imperial War Mu- seum before eventually returning to the city centre once more…albeit a little worse for wear! But most runners endure this for a good cause…and you could join them by taking part and proudly wearing one of our NPUK shirts!

Great Birmingham Run (15th October)

Thousands of runners (a staggering 20,000 in fact!) are involved in the Great Birming- ham Run every single year, and it is another event that is very quickly picking up pace to become a household name amongst runners! In the past there have been competitors and winners who have already proved themselves on the world stage – Olympian Andy Vernon likely being one of the most familiar faces to place first. One notable feature of the Great Birmingham Run is that there is more than just a half-marathon going on…there is in fact a range of different events taking place which makes for an inclusive and friendly atmosphere. Everything from junior and mini-events, to stalls and performances means that there is something accessible and enjoyable for everyone, no matter their age or ability. If this sounds like fun to you (and it should!) then you should get in touch with the NPUK team so we can assure you of your spot and help you with your fundraising efforts. We are thrilled at the prospect of seeing more people from our community taking part in this incredible up-and-coming run!

Great Edinburgh Run (23rd April)

This is something which everyone should want to be involved in – The Great Edinburgh Run! Arguably one of the most beautiful routes ever to be offered to a runner, due in no small part to the mixture of Edinburgh’s spectacular atmosphere and architecture – something which participants gain unbridled access to by taking part; everything from Edinburgh Castle, to the Royal Mile, and much much more. Although the weather in Scotland can often have a mind of its own, by placing it in April this minimises the chances of rain (April has been Edinburgh’s driest month for the past twenty years) and maximises the chances of a refreshing cool spring breeze, something which could make all the difference along this relatively new 10 mile route. So if you like the thought of joining well over 10,000 runners, and raising money for Niemann-Pick UK (all while taking in some jaw-dropping scenery) then get in touch to grab your place while it is still there! Autumn Edition INPDA 47

Update from the International Niemann-Pick Disease Alliance (INPDA):

The INPDA has been working hard throughout the year to facilitate progress for those affected by Niemann-Pick disease, by engaging in three key pro- jects: the International Niemann-Pick Disease Registry (INPDR), the Think Again. Think NP-C Campaign and the Loire Valley Meeting (LVM). Each aim to make a difference in the areas of scientific, clinical and therapeutic research, patient care, access to treatments and time to diagnosis.

The International Niemann-Pick Disease Registry (INPDR) Project has reached its final year and enjoyed its official launch in June 2016, at the- In stitute of Translational Medicine, Queen Elizabeth hospital, Birmingham. Six countries were represented at the launch, which provided the opportunity for the project partners to share outcomes, achievements and learning points with project stakeholders, including patients and carers, patient associations, health policy makers, health care professionals, industry and researchers. In addition, Mum Stefanie Rymsza, whose daughter Danielle was the first patient to be enrolled in the INPDR in the UK, gave a presentation explaining how important the INPDR is to patients and families. The INPDR is now live, with six countries enrolling a total of 250 patients so far. With the introduction of Patient Reported Data entry, patients now have the power to enrol in the

INPDR themselves. To learn more about how you can make a difference by joining the INPDR visit www.inpdr.org or contact your national patient group in the UK, contact NPUK by email [email protected] or telephone 0191 415 0693.

Earlier this year, the Think Again. Think NP-C (TATN) Campaign stand was present at the European Academy of Neurology (EAN) conference in Copenhagen on 27 – 29 May 2016 and also at the Study of Inborn Errors of Metabolism (SSIEM) conference in Rome from 5 – 8 September 2016, Autumn Edition INPDA 47 where the Campaign celebrated its second birthday! The TATN Campaign has now been successfully launched in 16 countries, with the campaign messages being heard by relevant healthcare professionals around the world. The INPDA is grateful to everyone involved in supporting the continued progression of this valuable campaign, which aims to raise awareness of the symptoms of NP-C and reduce time to diagnosis.

Loire Valley Meeting

The Loire Valley Meeting (LVM), which takes place every two years in the wonderful setting of a French Chateau, is organised and jointly funded by NPSuisse and Selbsthilfegruppe Germany on behalf of the INPDA.

LVM 2016 took place in October, with fifteen leading scientists and clinicians from eight different countries in attendance. The delegates possess a range of expertise and experience, working at the highest level in their chosen field. This forward looking and confidential meeting provides the opportunity for free and open discussion on research and clinical priorities, with the aim of enhancing progress in both ASMD and NP-C. The innovative nature of this meeting helps to accelerate progress in understanding of this rare disease, creating networks and opportunities within the research and clinical community that otherwise would not exist, with far reaching benefits for the wider rare disease community.

To keep up to date with all things INPDA, you can follow them on both Facebook and Twitter - or go to their website, www.inpda.org 48 49 In Loving Memory

Tribute to Adam Walters (ASMD NP-B) by his sister, Emma. It is an honor and privilege for me to pay tribute to a very special person, my brother Adam Walters. I am and always was so proud to have him as my big brother and wanted to share with you some memories and to make today special for him.

I am Adam’s only sibling, saved in his mobile phone as Little Sis. We always had a very close relationship – as with many brother and sister relationships it was laced with the usual arguments, partly because we were always able to be very honest with each other, tell each other how it really was without offence being taken or any judgment being made. I was his confidante, and he was my loyal best friend, always offering love and support that never once waivered. I have always taken it for granted that all brothers and sisters are as close but realize now that we had something very special and it feels like I have part of me missing now that he has gone.

As part of writing this tribute, I looked at the different chapters of Adam’s life to put together a picture of who he really was. Adam was diagnosed with a rare liver disease at the age of 5 but despite this, he had a regular childhood and was happy and carefree whilst putting up with hospital visits and ongoing tests that continued throughout his life. He had happy memories of when we lived at the Vine and all the regulars from back then would remember him in later life for taking after our Dad for playing darts and enjoying a bet on the horses. Going to Pinfold Street Primary School, he was encouraged to lead a normal life as possible. When the teachers stopped him from doing PE in case he got hurt, Mum marched up to insist he could join in, and made sure he was treated the same as all the other kids, something that continued all his life. At Darlaston Comp he was known by many, not only the people in his year but the whole school identified him as that little lad, the one who loved The Jam and followed Liverpool Football Club. It’s hard to remember now how little he was - when he turned 17 he had a mini that was even too big for him to drive so Mum organized for Rover in Birmingham to specially modify it for him. During that time he was working at Black Country Booking and his mates at that time would remember that going to pubs and clubs, he would always have to show his ID and even then they could not believe how old he was. 13/02/1969 - People would look and stare but he took it all in 21/09/2016 his stride. 48 49 Some of our families In Loving Memory share their thoughts on their loved ones

He remained that little lad until about the age of 24 – he had been for tests to see if he could have growth hormones to be told that he still had some growing to do and amazingly he grew about 8 inches in a year, which made a big difference to his life, as he no longer looked so different.

As many of his peers from school had already settled down with kids, Adam’s social life continued to grow with him connecting with more friends, people from Darlo a few years younger than him and my social group. I have so many happy memories of this period with us going out and hanging out together, going to concerts, sharing friends and enjoying life, with Britpop, Oasis, Stone Roses and Paul Weller as the soundtrack.

In 1999, our Dad Snowy died and in 2002 I moved overseas so the past 15 years of my memories mainly involve sharing experiences with him on the other side of the world, including him getting married over there with me being his best woman. Despite being a Darlo boy through and through, he also loved travelling. I have come across photos of him belly dancing bare chested in Turkey, riding mopeds in Ibiza, enjoying the thrills of Disneyland, scuba diving on the Great Barrier Reef, climbing the Sydney Harbour Bridge, Bungee jumping in NZ, even sky diving. Going to watch the Rugby World Cup, and going on an adventure around NZ in a campervan. Living life to the fullest.

During these past 10 years was when he was diagnosed with Bipolar disorder, an illness often more debilitating than his liver disease that saw him cope with extreme highs and lows: but having turned all these pages in his life, who do I see? I see someone who was faced with many challenges but, who lived a life to be proud of. I see a man defiant and unwilling to settle for less. He lived a principled life underpinned by a strong sense of right and wrong. Whether you needed advice, a shoulder to lean on, a travelling companion or someone to watch the Liverpool or England game with - he was your man; ready, steadfast, willing and good fun.

There were many wonderful aspects to Adam’s life, and many ways that he touched our lives. He will be remembered as a wonderful brother, a great friend, a generous uncle, loving nephew and cousin and devoted son. In all these ways and more, he made our lives richer and fuller. He lives on in our memories and stories, and in what all of us have become because of him. So I encourage you to share –today, tomorrow and in the years to come- your memories and stories. In this way we will keep the gift of Adam’s life alive.

Adam, brother…it is very hard to say goodbye so for now we will just say so-long. Gone to see our Dad, Snowy. And as we always signed off our texts from across the miles, love you miss you. 50 Autumn Edition In Loving Memory 51

Sidrah Ashraf provided these lovely words about her son, Abubakar, who sadly lost his fight with NP-C on the 24th June 2015: ‘I miss you as much as I love you: with every ounce of my being.’ 50 Autumn Edition In Loving Memory 51

Below is an incredibly touching poem written in memory of Emily Bushway, who sadly passed away on the 20th June 2016. The poem is entitled: ‘Emily is One of Heaven’s Angels’:

Emily is one of Heaven’s angels, Now a perfect little star And when you shine the world can see How beautiful you are. May your heart be joyful And your days be bathed in light. And though our hearts are broken and your life was far too short, We thank you sweetest angel For the happiness you brought. We love you. Mark, Lisa, Harry, and Sarah xx

Alice Byrne (27th June 2003 - 6th July 2016) Alice’s loving family kindly provided us with a special poem in memory of Alice - who loved Tinkerbell and lit up every room she was in:

Little girls are made of special stuff Like faith, love and pixie dust. Stars that shine down from above Bringing sunshine and joy Such treasures to love. Strong and courageous until the end... Go fly with the fairies my Tinkerbell friend. Love Barbara, Pat & Ellen xx 52 Autumn Edition In Loving Memory 53

Our Love Always Remains Where do they go to, the people who leave? Are they around us, in the cool evening breeze?

Do they still hear us, and watch us each day? I’d like you to think of them with us that way.

Where do they go to, when no longer here? I think that they stay with us, calming our fear. Loving us always, holding our hands. Walking beside us, on grass or on sand.

Where do they go to, well it’s my belief: they watch us and help us to cope with our grief.

They comfort and stay with us, through each of our days:

Guiding us always through life’s mortal maze. We will always remember; Abubakar Mohammad, Adam Walters, Alice Byrne, Emily Bushaway, and Georgina Pierce 52 Autumn Edition In Loving Memory 53 Remembering the Kindness of May Earlier this year, we received a heart-warming letter from Janet Holmes, mum of Hannah Holmes (aged 20 NP-C)...

Janet, who regularly raises much-needed funds to support the NP-C Community through her fantastic campaign “Hope for Hannah”, wrote to us at the NPUK Central Office to pass on lovely news from her friend Julie Gates. On the occasion of her 100th birthday, Julie’s beloved Auntie, May Dockney, had kindly decided to request donations to Niemann-Pick UK in lieu of presents.

Like Janet, we were completely overwhelmed by this kind and thoughtful gesture, made even more special when we later learned that May had passed away. Following this sad news, family and friends added to funds raised in celebration of May’s birthday and NPUK was incredibly grateful to receive donations totalling over £200. We believe this amazing amount is a lovely tribute to May’s memory and shows the high regard in which she was held. Also raising funds on behalf of “Hope for Hannah” are quiz team, “The Outsiders”, consisting of Fred, June, Pat, Sue, Mike, Pete and Charlie. This brainy bunch are regular fundraisers who have kindly donated their prize winnings to Niemann-Pick UK, totalling an amazing £140! Thank you all for your efforts which make a true difference to our Charity!

We would like thank May and all who knew and loved her for the incredible kindness you have shown...it is in her honour and memory that we dedicate this page. 54 Autumn Edition 55

Former NPUK trustee Tony Jellings writes about Miss Lorna Jane Mason: Over twenty years ago when our daughter Juliet was first diagnosed with Niemann- Pick Disease Type C, I was at a loss what to do. But I had to do something, and after much thought and discussion with my wife Lisken, I offered to take on the responsibility of raising money for the charity and so became ‘Fund Raising Co-ordinator’ and a member of the charity’s management board. Ultimately, before I retired, I became ‘Acting Chairman’ of the management board.

From diagnosis during the following ten years or so I remained active in working to raise funds for research and family support. With the help of family and friends over £800,000 was raised. How? Through a variety of events including auctions, lectures by well-known individuals such as Patrick Kinna (formerly a Private Secretary to Winston Churchill), jumble sales, raffles, donations, and concerts – to name but a few. The latter were especially important in that they helped to raise the profile of the charity and in addition they raised significant sums of money.

Rich and poor contributed to our fundraising. One such person was Jane Mason, an elderly member of the congregation of St George’s Church, Brighton, whom Lisken and I had got to know as a fellow church member. She would occasionally say to me “I’ve got some rubbish for you charity.” Over the years this “rubbish” raised several thousands of pounds for Niemann-Pick. We got to know each other very well, and I began to help her in many ways, in particular with tidying up and cleaning her house which was in a very poor state of maintenance and repair. A few years ago, having come to her rescue when she rang at midnight with pains in her chest and rushed to hospital, she asked me to become her next of kin. I agreed. After two weeks she was discharged from hospital but in no way fit to return to her home and look after herself. In fact it soon became clear that she would never be able to live on her own again. So one of the first things I had to do was to arrange for her to move into a nursing home, and in order to pay for this expense, organise the sale of the house. During this proves I was appointed, at her request, her attorney and executor with, among other things, full responsibility for her financial matters.

This involved arranging for her money to be safely invested. In addition I had to arrange for her to draw up a will. Her instructions were to divide all her assets when the time came among four charities, one of which was to be Niemann-Pick UK.

Miss Mason, at the age of nearly 98, has alas recently passed away after a short illness. The result being that the terms of her will have been implemented and NPUK will in due course receive a substantial legacy for use in family support and research.

Thank you Jane for your generosity. 54 Autumn Edition 55 Help & Info:

For children with Niemann-Pick disease, getting help early can make a huge difference to both their development and overall quality of life. At NPUK we are here for you to support you in any way we can, and will always persevere to assist with any difficulties you, or your loved one, may be going through.

Who can I speak to if I’m worried about my child?

You can always talk to us here at NPUK on either our 24-7 helpline at 0191 415 0693 or by email at info@ npuk.org. But aside from us you can also approach your family doctor (GP), health visitor or nurse about any and all worries you may have regarding your child – in most cas- es the doctor or nurse may suggest your child sees a paediatrician, or a specialist if one is available who may be better equipped to deal with your specific concerns.

Speech and communication NPUK are always there for you, and your loved one - you are never alone.

If your child is/begins to fail to understand simple words, uses very few words, or has difficulty making certain sounds then a doctor or health professional may refer you to someone who may be able to assist, including:

- A speech and language therapist who can work with you and your child to develop communication skills. If a child cannot talk they can help them find other ways to communicate.

- An audiologist who works with children who have hearing difficulties and can advise on aids to improve hearing.

- A pre-school home visiting service which helps children with early communication and pre-school learning skills.

- A kindergarten or nursery/group that has people trained to help your child develop social skills. 56 Autumn Edition Help & Info 57

Feeding and eating

Does your child have difficulty swallowing, eating, drinking or are they reluctant to eat? If so your health visitor is able to give useful advice on feeding (including breast feeding, bottle feeding and weaning onto solid food). We can also offer advice on our helpline, or by email – whatever is more comfortable for you.

A doctor or health visitor might refer you to: - A speech and language therapist who can provide help if there are physical problems with swallowing. - A dietician who can provide advice on food, diet and nutrition. - A clinical psychologist who can offer support and advice on how to encourage your child to eat.

Behaviour

Does your child’s behaviour seriously impact on family life and his or her ability to learn?Challenging behaviour can be the result of certain medical conditions. Difficult behaviour can sometimes be resolved using simple strategies. Parents should not feel embarrassed asking for help.

A doctor, health visitor or your child’s school might refer you to: - Specialist parent classes to help you find strategies to manage your child’s behaviour, run for parents who have disabled children. - An educational psychologist or clinical psychologist for help with managing the problem. - A paediatrician or psychiatrist for assessment and advice on how best to manage your child’s behaviour.

Difficulties learning or poor attention skills

Does your child have problems remembering information, learning early education skills, or responding to requests?

A doctor or health visitor might refer you to: - A nursery or play school/group for children under five that has people trained to help your child learn new skills. - A pre-school home visiting service to help your child with early communication and learning skills, long before they start school. - A Special Educational Needs Coordinator (SENCO), a teacher responsible for coor- dinating any extra support a child needs in England and Wales. In Scotland the home visiting teacher, the child’s class teacher or another member of school staff takes on this role.

For further helpful information and advice you can visit Contact a Family at www.cafamily.org.uk or our own site, www.npuk.org 56 Autumn Edition Help & Info 57 Big Lottery Fund Grant Success for Niemann-Pick UK We are pleased to announce that we have been awarded a grant from the Big Lottery Fund Reaching Communities Programme – a great achievement for us as an organisation! Our focus is to ensure that our project, ‘Shaping our Future Together’, is delivered with positive impact and has lasting benefits for those we support.We would like to thank the Big Lottery Fund for choosing to support our organisation with the grant, which covers a period of five years and gives us the fantastic opportunity to enhance our current support service with this new project. Building on a previous grant from the Big Lottery Fund Reaching Communities Programme for our “Family Care and Interactive Support Project”, we will further develop our services for those affected by Niemann-Pick diseases, their families and the wider community, from diagnosis and beyond. To support the delivery of the Project, we are pleased to introduce a new member of staff, Louise Metcalfe, who is assisting in the positive delivery of the project aims. Louise has taken on the role of Project Team Leader and tells us: “It’s been great to get to know my new colleagues, NPUK trustees and of course our community, as well as contributing to the on-going success of this incredible charity.” Louise brings with her a range of skills gained from a varied background working in social policy, child poverty and most recently with young homeless people. Louise adds: “Having two disabled children of my own has made me very familiar with the myriad of challenges faced on a daily basis and the impact this can have on every aspect of family life. I hope to bring this understanding to my role”.

The Project will help us to increase our overall focus on advocacy work, provide greater geographical coverage and offer wider access to bereavement counselling. NPUK Chief Executive Toni Mathieson commented: “It is fantastic as a small organisation, to have our work recognised and supported by the Big Lottery Fund. The grant will enable us to further develop our services to meet the needs of families and individuals affected by the rare and life-limiting condition Niemann-Pick Disease, bringing hope and encouragement to this community.”

The Star Online

We are increasingly being asked by funders, such as the Big Lottery, how our work impacts upon our community. Louise has researched and introduced the Star Online Carers Star, to help us show the value and benefit of the work we do to help and support families affected by Niemann-Pick diseases. The Star Online covers different aspects of the caring role and provides a secure and confidential way for us to discuss topics that are relevant for carers. It is known as a Star because of its shape – answers to each point of the star relate to a different aspect of the caring role. NPUK staff members have now been trained to use the Star Online, which will help us 58 Autumn Edition Help & Info 59

greatly to measure the impact that our Families Officer, Elizabeth and Clinical Nurse Specialist Laura have when working with families.

How can I find out more or get involved?

If you would like to learn more or get involved with the Star, please get in touch with Louise at the NPUK office by telephone 0191 416 1207 or email louise@niemann-pick. org.uk Finally, we are always really interested in your stories regarding how you use and view NPUK, so please get in touch with Louise at the Central Office if you feel you can help us with this in any way!

Are you an adult affected by NPD or are you caring for an adult with NPD? Would you like to be part of our exciting new project involving iPads?

As part of our Big Lottery “Shaping our Future Together” project, we are extending our iPad project to adult NP patients and their families. The aim of the project is to better understand the ways in which technology can help our families manage their disease. For instance, you could use an iPad could be used to communicate with and send vide- os to our Clinical Nurse Specialist, Laura or to other members of your healthcare team. This could help to answer your questions about NPD in a more timely way, without having to wait until your next clinic appointment. Or perhaps you would use it to get in touch with Elizabeth, our Families Officer for advice, help, or maybe just a chat? You might want to join our NPUK Facebook community? Or use an iPad for information and research? You could download apps that help with memory and fine motor skills, enjoy music or your favourite TV shows with friends and family or whilst on the move. It is entirely up to you…

In our pilot iPad programme, with children and their families, we aimed to address the emotional issues of isolation and despair that so often accompany a diagnosis of a rare disease by providing access to information and support when it is most needed. This is particularly important when our community is spread across the UK and indeed the world. When we evaluated the project, we found that families viewed iPads as an essential part of their daily lives and that they were used in many ways including:

- Sharing symptoms with healthcare professionals - Getting advice and support - Taking photos and making memories - Assisting in communication - Facilitating communication between school and families - Staying in touch with family, friends, the NP community;

We are now looking for 35 adults to take part in this project over the next 5 years. In addition to your iPad, you will receive training and support on how to use it, so don’t worry if you have never used an iPad before! All we ask is that you have access to the internet to use your iPad. In return, we’d like to stay in touch with you to talk about how you use the iPad and what difference it has made to you and your family.

Please feel free to contact Louise at any time if you would like further information on any aspect of the Project, telephone 0191 4150 693 or email: [email protected] 58 Autumn Edition Help & Info 59

Niemann-Pick UK: Who We Are

Toni Mathieson, Chief Executive - Email: [email protected]

Christine Jopling, Finance & Administration Officer Email: [email protected]

Louise Metcalfe, Project Team Leader Email: [email protected]

John Lee Taggart, Social Media & Communications Officer - Email: [email protected] NPUK Central Office, Elizabeth Davenport, Families Officer Suite 2, - Vermont House, Telephone: 01904 438589 / 07896 197576 Concord, Washington, Email: [email protected] Tyne & Wear NE37 2SQ Laura Bell, Clinical Nurse Specialist: www.npuk.org The Mark Holland Metabolic Unit Salford Royal Foundation NHS Trust, Stott Lane, Salford, M6 8HD 0191 415 0693 Telephone: 0161 2060228 / 07791 499555 0191 415 1207 Email: [email protected] / [email protected] Email: [email protected]

Chair: David Roberts Board of Trustees: Janice Brooks, Richard Rogerson, Tel: 01928 574536 Jim Green, Will Evans, Bill Owen, Helen Carter, Jackie Email: d.robertsinruncorn Imrie, David Holton, Joella Melville @ntl.world.com Co-opted Trustees: Fran Platt, Stefanie Rymsza Treasurer: David Holton Medical Advisor: Dr Simon Jones Patrons: The Rt. Hon. The Genetic Medicine, Manchester Academic Health Science Earl Cairns, Prof. Martin Centre Central Manchester University Hospitals NHS- Rossor. Guy Johnston, Foundation Trust, 6th Floor, St Mary’s Hospital Dr Marie Vanier Oxford Road, Manchester, M13 9WL Note from the Editor...

I would like to thank all of those who have contributed to this News- letter. Please continue to submit articles, stories, poems, advice, children’s contributions, fund-raising ideas and anything else you feel may be of interest...especially photographs!

Send your contributions for the Spring 2017 edition by Friday 11th March 2017 to John at: NPUK, Suite 2, Vermont House, Concord, Washington, Tyne and Wear NE37 2SQ or by email [email protected]

Disclaimer: Information which appears in this Newsletter is for the express pur- pose of raising awareness and does not necessarily reflect the views of the NPUK. All medical information should be reviewed with your doctor before being acted upon. Website: www.npuk.org Email [email protected] Tel: 0191 415 0693

To contribute to the next issue please email: [email protected]