Children with Ataxia

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Children with Ataxia

Table of Contents

Introduction ...... 1 Alaysha’s Story ...... 2 How You Can Help ...... 3 Angela’s Story ...... 4 Cameron’s Story ...... 6 Liesel’s Story ...... 7 Maya’s Story ...... 8 Olivia’s Story ...... 10 Handwritten Note ...... 12 Yasin’s Story ...... 13 In Memory ...... 14 NAF Is Here to Help ...... 15 About NAF ...... 16

Introduction It is estimated that 150,000 But there is also courage, hope, individuals in the United States and a commitment to making the are affected by ataxia. Sadly, most out of today. many of those who are affected The stories presented in this are children. booklet are the stories of children Families who have a child with with ataxia. Parents and family ataxia are forced to adapt to the members have generously pro- constant change and uncertainty vided these stories to share their of this disease. The impact from difficult and emotional ataxia the disease can be felt not only journey. They offer a candid by the child, but by the family perspective on how ataxia has as a whole. There is struggle, forever changed their lives and helplessness, and heartbreak. on their hopes for the future.

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Alaysha’s Story

Story provided by her Mom

n February 4, 2015, told the neurologist what I OAlaysha, my eight-year-old thought; he agreed so we had the daughter, was diagnosed with test done and sure enough she has ataxia telangiectasia (A-T). When A-T! she was a baby they tried to I was kind of prepared for this diagnose her but couldn’t figure but it’s still like a nightmare come it out, so we left with a general true. As soon as we knew what diagnosis of ataxia. As she grew it she had we decided to start fund- even seemed like she was growing raising for Alaysha so that she can out of this wobbling. She met all get to experience as much as her therapy goals, so we just possible in her short life. went on living life until this school Her older brother Colton did a year. fundraiser at his school and raised Her walking and talking started $600 for the National Ataxia getting worse so I felt it was time to go to the neurologist and try Foundation. He also got us on again for a diagnosis. While wait- the news to bring awareness of ing for this appointment we had ataxia to our city. to get Alaysha a walker. We started a GoFundMe.com I also started doing my own personal fund-raising website and research on the different kinds of put donation jars around town. ataxia. I found ataxia telangiectasia Unfortunately some of them were and felt as if I were reading a stolen last week, but karma will horror story about my baby. And take care of that. I knew this was what she had. I We got Alaysha her own post 8

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office box so people can send busy, filled with doctor appoint- cards and things. She also has a ments, therapy, worries and fear. Facebook page called “Hope for But my daily goal will never Alaysha” where people can talk to change: that is to make sure her. She posts lots of videos and Alaysha goes to bed with a smile pictures. on her face. Life isn’t always fair to The only way I can deal with everyone but we take the hand this horrible diagnosis is to only we’re dealt and day by day do the think of today. Alaysha’s tomor- best we can. row isn’t promised. She is the I would never be able to deal happiest child. She always was with all of this without the sup- and still is. Alaysha is the most port of family and most of all my thoughtful child I’ve ever met; she soul mate David. We were always thinks about how things brought together for a reason and will make others feel. Her smile now I see why; he is a wonderful can light up a room. Everyone dad to Alaysha. Something she knows and loves Alaysha. I’ve has never had. We have a few always taught her that everyone is challenges right now as her A-T is different and she takes it to heart getting worse. She will need a so it doesn’t bother her that she is wheelchair soon so we desperately different. I’m so thankful for that. need to get her in a one story Life is a lot different now. We house. A-T is a horrible condition used to have a very laid-back, but we do our best to not let it rule our lives. easy-going life. Now life is very v

How You Can Help As you read the stories of support, education, and research. these children and their parents The impact that your donation who live with the challenges of has is profound and far reaching. ataxia, please consider making a Research gives hope to these donation to the National Ataxia families, that one day there may Foundation. be treatments and a cure for Established in 1957, the NAF their children. is dedicated to improving the Donations can be made lives of persons affected by through our website, www.ataxia. ataxia and their families through org. Thank you.

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Angela’s Story

Story provided by Angela’s Mom and Dad

e have three children, all in a wheelchair that we push be- Wbeautiful girls; Angela is cause she is not able to operate it. our middle daughter. Our world Harness straps are necessary at all was turned upside down when times. Ang cannot support herself Angela was diagnosed with Spin- sitting or standing. A headrest ocerebellar Ataxia type 17. I can must always be in place otherwise still recall how the oxygen left my her head falls backwards and she is brain and the sick feeling in my not able to lift it up on her own. stomach on that painful day. A Choking occurs quickly. wonderful nurse had taken Ang Vomiting had become a very for a walk in the hospital as we sat serious problem for Angela. We numb in the doctor’s office while tried for months to figure out why being told the devastating news of this was happening. We were our daughter’s future. The doctor scared. Losing Angela certainly told us to be strong in front of our crossed our minds during this children and cry at night when difficult time as she dropped they were in bed. down to 69 pounds. We elimi- Angela was 15 years old when nated foods, added foods but she was diagnosed with SCA 17. nothing stopped the vomiting. Today she is 23. She does not seem We decided to take Angela off all that old though. The progression medications, the weaning process has caused her to no longer be able took quite some time but eventu- to do most things. It’s almost as if ally the vomiting completely her life stopped in its tracks. An- stopped! She now also sleeps gela cannot walk anymore, she is through the night or is at least 8

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peaceful. Unfortunately a large Angela will try her best to nod for pressure wound near her tailbone us. But there are times when she’s opened up causing Angela great just not able to do that and times distress. The wound became in- when we are not able to tell if fected. We added an air pressure it’s a “Yes” or a “No.” Angela’s mattress to her bed, a ROHO pad losing her ability to talk has been to her wheelchair, tissue nutrients one of the hardest things. Is she to her diet and Angela was reposi- hungry? Is she in pain? Is she cold? tioned every 30 minutes. It took a Is she sad? Is she scared? We can little over a year for the pressure only hope she knows we are try- wound to completely heal. This ing our very best to give her what was an incredibly painful time for we think she needs and wants. Angela and also for her family. Angela is now very stable; she is It is necessary for us to feed tough, she’s a fighter. Better yet, Angela. Each meal she is happy and takes one-and-a- likes to be near us. half hours. The Her smile is as food needs to be Angela is“ now very beautiful as ever! chopped up very stable; she is tough, We continue to fine and have a wait for a cure for high calorie count. she’s a fighter. Spinocerebellar Every morning her Ataxia. We are so dad gives her fortunate to have yogurt, cereal with whole milk,”so many loving and dedicated Juven (which promotes tissue doctors, nurses, counselors, growth and strength), Karo syrup researchers and all of the others and of course ice cream. Every who tirelessly provide their time single morning without fail he and talents to help make life better does this. We need to be diligent for others ... to find a cure. Please in our efforts to feed her so she don’t give up, please don’t be can at least maintain her low discouraged. When you find that weight which is now in the 80’s. cure, our daughter will be able to On a really good day Angela is again say the words that we so able to say one word, it tends to be long to hear, “I love you.” a one syllable word. This does not Thank you from the bottom of happen very often, to say once a our hearts, month might be exaggerating. – Angela’s Mom and Dad v

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Cameron’s Story

Story provided by Cameron’s Mom

ameron was diagnosed with any signs of ataxia. We try to make Cataxia at the age of six. He is life as normal for them as possible. nine years old now and still being They have both been brought to tested. At the time he was diag- so many appointments with us, nosed, I chose to not find out especially his brother Caiden. He the type of ataxia that he has until puts meaning to the phrase, “My recently when I contacted a Brother’s Keeper.” He is always geneticist. Cameron first started tying Cameron’s shoes, helping showing symptoms at age 11 him stay steady while he dresses months when he started walking. and buttoning his clothes. He would fall more than he As a mother you don’t want to should have. Everyone told me, see your child struggle to do “Oh it’s normal,” but as his mother normal everyday things like walk, I knew something was wrong. talk, button, ride a bike, and eat. At the age of three he went to Cameron loves to sing and dance “Early On” for physical therapy, and wishes to play sports, but occupational therapy and speech unfortunately ataxia has taken therapy. Cameron has been that from him. I have many days through so many specialists and where I want to cry and feel appointments, that I have thought angry, but Cameron keeps me that is all that life consists of. I going, because he is a bright, have two other children who are funny, beautiful child with a heart of gold. completely fine and do not show v

Visit www.ataxia.org for more information

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Liesel’s Story

Story provided by her Mom and Dad

iesel was diagnosed in June currently under the watchful L 2014 through genetic testing eyes and care of neurologists and as having Spinocerebellar Ataxia neurogenetic doctors at UCLA type 29 (SCA 29), an extremely Children’s Hospital. We will be rare disease. Her gene mutation is seeing doctors with the ataxia the first doctors have seen. program at Johns Hopkins Hospi- We started to notice something tal in July. was different when she was Liesel loves to play with her around seven months old. She was older sister Reese, who is six years delayed with all milestones: not old. She giggles with pure joy sitting up until nine months, not when entertaining others with crawling until 14 months, and a her singing, or in her dance and very unstable walk followed at 26 gymnastics classes. She is social months. She began physical ther- and loves to be around people, apy and occupational therapy at 10 attends school for several hours months and at 15 months began each day. Her smile will certainly speech therapy. Currently she brighten your day. receives six hours of therapy a Liesel faces daily challenges; her week. Our pediatrician referred us speech is delayed of that of a two to a neurologist at 15 months old. year old, making it extremely hard The journey took over a year- to understand her needs and and-a-half before all the genetic wants. Recently we saw a gastro- testing came back. enterologist due to swallowing After countless hours of research and visiting doctors, Liesel is Continued on page 8

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Continued from page 7 days and weeks after seizures she is at a greater fall risk or may not concerns. We have found that she walk at all. She tires easier and is coughs when drinking water and in need of a walker to travel the she is at high risk for choking. halls of school. Liesel’s doctors Walking is still so hard, her gait is have ordered her a walker to use very wide causing her to be un- at home as well. balanced and she falls often. Both As her parents, we hope for a of her legs are very weak. Most of cure. It is difficult to watch her the time we carry her places or she struggle; we don’t know what to rides in a stroller. expect in the future but continue In the last year Liesel has begun searching for doctors and to have seizures, although we researching this disease. We feel suspected this months before her so alone, often finding ourselves first seizure. We have found these informing doctors and specialist seizures, as they become more across the USA about SCA 29. frequent and intensify, have We pray that we are making the affected her walk and speech. For right decisions with her care. v

Maya’s Story

Story provided by her Dad

bout a year-and-a-half ago class, it seemed weird that Maya A we realized that (our now always seemed to tug and pull on 11-year-old daughter) Maya’s my hand. It was such a contrast to “differences” were not normal. the way her brother held my When I held Maya’s and her hand. My mom commented that brother’s hands on the way to Maya seemed “off balance” and 8

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we should get her checked by a other unrelated Dutch woman. neurologist. Guess what ... Maya is not Dutch, After months, we finally had an yet she is the eighth reported appointment. The neurologist did SCAR7 case in the world. a couple of basic tests as part of She is said to have a mild phe- his examination (finger to nose, notype, however, there is nothing hop on one foot, walk across the “mild” about watching your child room heal to toe) and it was clear slowly lose her ability to walk ... that something was very wrong. to watch your child struggle with The neurologist thought that her “differences” in school. the bouncing of Maya’s eyes was “Mild” provides little comfort, indicative of ataxia telangiectasia, when she falls, or when there is a however, the new scar or blood work said when she cries, no. The Athena because she Panel for known In order“ to find a doesn’t under- forms of genetic cure/help for Maya, stand why her ataxia eventually body is revolting came back in- we need to find more against her. conclusive. After kids and adults In order to find a year of tests and with Maya’s exact a cure/help for a trip to Massa- Maya, we need chusetts General phenotype/diagnosis. to find more kids we finally had a and adults with diagnosis: Atypi- Maya’s exact cal TPP1 Deficiency, or SCAR 7.”phenotype/diagnosis. The more Maya’s condition is caused by we find, the more science, medi- mutations in the same gene that cine and the respective communi- causes late-infantile neuronal ties will pay attention and join the ceroid lipofuscinosis (a form of fight. I suspect that there are a Batten disease). Those of you number of children and adults in the ataxia community will with Maya’s symptoms who are recognize SCAR 7 as Autosomal simply undiagnosed but have Recessive Spinocerebellar Ataxia TPP1 mutations. If you are out Type 7, a type of ataxia reported there, then we need to find you. as occurring in six of 12 siblings Please contact me at bjames358@ from a Dutch family and one gmail.com. v

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Olivia’s Story

Story provided by Olivia’s Mom

ur daughter and first child, great asset in our quest to help OOlivia Virginia, was born Olivia. When she came into the without complications in 1994. room to see Olivia for the first However, by the time she was time, she was blowing soap bub- supposed to toddle, her father and bles and immediately won the I realized that there was some- heart of our little girl. Through thing wrong. She could not stand the doctor, Olivia was fitted with or walk independently. She a K-Walker, a mobility aid. For drooled abnormally at times, her the first time, Olivia was able to speech was slow, and she was walk without someone helping shaky. Her pediatrician referred her. It was a tearful moment for us to a neurologist who looked her parents but they were tears of perplexed and said that she had joy. some form of cerebral palsy. A neurologist at Children’s I was devastated realizing that Hospital in Columbus told us that doors would be closed to her. Olivia had ataxia. Through the Over time, we would come to ap- National Ataxia Foundation’s preciate all that Olivia could do web site, we found a doctor who instead of focusing solely on her had an interest and background in limitations. ataxia. We drove from Ohio to At one point early in Olivia’s Chicago to meet the doctor and treatment, we were advised to see gain his opinion of Olivia. He said a pediatric physiatrist who special- that she would probably parallel izes in Physical Medicine and normal but continue to have a Rehabilitation. The doctor was a disability. 8

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Olivia underwent physical ther- appreciation as the two came apy to help her with movement, together in a classic ballet. and had several MRIs as a young When the National Ataxia child. It was discovered that Foundation held its annual con- Olivia’s cerebellar vermis is ference in Tampa, Florida, Olivia abnormally small. Damage to the and I attended. I had more ques- vermis can cause cerebellar ataxia. tions about ataxia than answers, so Olivia was diagnosed with spin- this was a fantastic opportunity to ocerebellar ataxia. Later, however, hear from experts in the field. genetic tests were negative for a Olivia had congenital (since link to Olivia’s ataxia. It is quite birth), sporadic (unknown cause), possible that Olivia’s ataxia was ataxia and I asked the panel about caused by an her condition. environmental While Olivia sat factor. on the floor col- As parents, we When the“ National oring, I learned were becoming Ataxia Foundation that there was familiar with the not a cure for her world of disabled held its annual disease and my children, partic- conference in Tampa, heart sank. ularly when Florida,Olivia However, I was Olivia became a and I attended. not going to let member of the my disappoint- ballet company, ment and sadness “Firebird,” in affect my little Dayton, Ohio. They sponsored ”a girl, who was generally a happy ballet with prima ballerinas and and active person. My husband’s children who used wheelchairs or positive attitude helped me cope walkers. Olivia was one of two as well. young girls wheeling their walk- Through the National Ataxia ers on stage. The ballet was fabu- Foundation, we found a wealth of lous for the children who could information and strength in a local “dance” behind the stage lights support group. For parents learn- and hear the thunderous applause. ing that your child has ataxia, I The ballet involved the extremes would highly advise you to attend of physical ability and inability, but fostered joy and mutual Continued on page 12

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Continued from page 11 Olivia graduated with a regular diploma in 2014 and it was a super a national conference or join a day for her and her family. And support group. Never give up how is she now with ataxia? She hope that your child can accom- speaks and processes information plish more than they are told slower than normal, and she they can. At times Olivia was left falls occasionally, but she keeps behind by her counterparts or improving as she continues to her young, lively cousins, but her understand how to move. She spirit is strong and she has stayed enjoys art and will study graphic positive throughout her life. A design. Despite her ataxia, Olivia strong spiritual foundation has is on the road to success with kept her grounded and has led to her will to succeed and the many friends and mentors. support systems available. v Handwritten note by a teenager with ataxia Ataxia often causes motor skills to deteriorate. Here is a note written by a teenager with ataxia.The note reads: “Dear Ms. Sue, Thank you so much for helping me with my senior project. I couldn’t have done this without you. Thanks again. Sydney”

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Yasin’s Story

Story provided by Yasin’s Mom, Sakina

’d like to introduce you to my ataxia, I face many challenges. I 11-year-old son Yasin. When One of the biggest challenges with he was six years old, he was diag- FA is that Yasin’s needs are con- nosed with Friedreich’s ataxia stantly changing. The most recent (FA). Having FA causes challenges struggle has been to ensure a safe for Yasin: difficulty walking, surrounding by removing obsta- getting dressed, writing, eating, cles and purchasing various med- sitting and standing. To assist him ical equipment to help reduce with sitting and standing he uses a harm to our bodies, both my back brace and leg supports, as child’s and mine (when assisting well as ankle-foot orthosis (AFO). him). Another challenge I face is For mobility, Yasin requires a advocating for his best interest. walker or wheelchair when he is There are so many complexities of more fatigued. He needs help FA that many people don’t under- doing most physical activities. stand. I feel that the more that Like most kids his age, Yasin’s is known about the disease, the favorite activities are reading and better people can be in helping. playing video games. Yasin also I work hard to ensure that he participates in a sports program for doesn’t lose his childhood to a dis- individuals with special needs. A ease that is already taking away few years ago Yasin advanced to from him day by day. I try to en- basketball, playing with a special sure that he feels included, happy wheelchair that enables him to and loved. I am always praying for move around the court fast. a cure and hoping that we put an As a parent of a child with end to Friedreich’s ataxia! v

Children with Ataxia 13 NAF Children Booklet 2015_Layout 1 7/13/15 12:58 PM Page 14 In Memory... Alan’s Story Alan was diagnosed with Spin- run, climb trees, or swim. At age ocerebellar ataxia type 7 (SCA 7) 8 he was using a walker and by in 2005 when he was 7 years old. the age of 10 he was using a His first neurologist identified wheelchair. Even to Alan’s final that Alan had ataxia – and days he continued to ask me to genetic testing results confirmed help him to walk. SCA 7. The most difficult challenge I Alan continued his care at Uni- faced as a parent with a child with versity of Texas Medical Branch SCA 7 was that there was nothing (UTMB). His neurologists there I could to stop the progression of were ataxia specialists which was a the disease or get rid of SCA 7. If huge blessing to me because they we had not had access to excellent knew a tremendous amount medical and support services I about SCA 7 would not have been able to be and were able the best mother I could be for to share that Alan. His medical support con- information sisted of his pediatrician, the ataxia with me.This specialist physicians, a gastro- allowed me enterologist, a physical medicine to respond to doctor, an ophthalmologist, a Alan’s med- cardio-respiratory doctor, and an ical situation excellent whole health nutrition- Alan appropriately. ist. I also utilized services from Alan enjoyed any sport that DARS (Department of Assistive involved running. He enjoyed and Rehabilitative Services) and a riding his bike, swimming, climb- support group for parents with ing trees, playing basketball, and children with disabilities. soccer. Alan was able to do all I would recommend doctors these activities until he turned 7. share the following with parents His vision declined from 20/20 to or guardians of children with going blind when he was 11. At SCA 7: the same time Alan’s mobility was • Due to the progressive nature declining. He could no longer of SCA 7, adjustments to your 8

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child’s physical condition are masticate his food but soon on-going. Also suggest that they needed a feeding tube as his main work with an ophthalmologist source of caloric intake. who specializes in low vision and • Stress the importance that retinal muscular degeneration time is of the essence. If there are because with SCA 7 the patient experiences and activities the eventually goes blind. child wants to do, try them as • Because muscle coordination soon as possible due to the degen- is decreasing, adjustments need erative nature of the disease. to be made regarding how the • Finally, recommend that individual with SCA 7 meets their they utilize NAF. dietary needs. Alan was able to – Alan’s mother v

NAF Is Here to Help The stories you have just read medical care. about children who are affected Education – NAF has devel- by ataxia were generously shared oped an extensive library of by their parents and loved ones ataxia related fact sheets, books, to better equip clinicians as they and videos. Also available to its provide medical services to their members is Generations, the patients and to give a human Foundation’s quarterly news face to the disease that ataxia publication. NAF also offers a researchers study in their labs. resource list of neurologists who The National Ataxia Foundation specialize in ataxia and other (NAF) is a non-profit membership movement disorders. organization that strives to im- Research – Through NAF’s re- prove the lives of those affected search program, the organization by ataxia through support, edu- provides funding for promising cation, and research. ataxia research studies. NAF also Support – Local ataxia support supports ataxia research by groups are facilitated by NAF so promoting participation in patient that families can connect with registries, clinical drug trials, and one another. In addition, the natural history studies so that Foundation offers an annual viable treatments can one day membership meeting to provide be a reality for those affected by comprehensive information about ataxia. ataxia by experts in the field of For more information about ataxia research, genetics, and NAF visit www.ataxia.org.

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The National Ataxia Founda- mation will be available through a tion (NAF) was founded in 1957 variety of educational programs as a non-profit, charitable organ- for those affected by ataxia, physi- ization with a mission to find the cians, genetic counselors, physical cause and cure for all types of therapists, other health profes- ataxia. sionals and the public. Through The focus and purpose of the literature, an in-depth quarterly Foundation is to support promis- news publication, and a compre- ing research and provide mean- hensive website, NAF creates ingful programs and services to awareness and serves as a resource those affected by both dominantly for current ataxia information. and recessively inherited ataxia as Prevention of ataxia well as sporadic ataxia and other At this time, there is no treat- closely related conditions. ment available that can prevent The Foundation’s objectives ataxia from developing in a person include: who has an affected gene. NAF Empowering ataxia families encourages genetic counseling to and persons at risk help families make informed decisions about family planning NAF encourages a complete and genetic testing. neurological examination to provide an early and correct diag- Ataxia research activity nosis. NAF maintains a current NAF continues to promote and referral list of Ataxia and Move- fund world-wide ataxia research ment Disorder Clinics and designed to better understand all neurologists who are familiar with types of ataxia, to find the genes ataxia. NAF provides assistance to that cause ataxia, and translate start and sustain support groups this information into treatment and provides referrals to groups methods. where available. More information Increased awareness and More information can be found education about ataxia on the National Ataxia Founda- NAF assures that accurate infor- tion’s website www.ataxia.org. v

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National Ataxia Foundation 2600 Fernbrook Lane, Suite 119 Minneapolis, MN 55447-4752 Phone: (763) 553-0020 • FAX: (763) 553-0167 Internet: www.ataxia.org • E-mail: [email protected] ©2015 National Ataxia Foundation. All rights reserved.