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Children

with Ataxia

National Ataxia Foundation


©2015 National Ataxia Foundation. All rights reserved.
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.

Children with Ataxia 1


Alaysha’s
Story
Story provided by her Mom

O n February 4, 2015,
Alaysha, my eight-year-old
daughter, was diagnosed with
told the neurologist what I
thought; he agreed so we had the
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
Foundation. He also got us on
to go to the neurologist and try
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 

2 National Ataxia Foundation


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
easy-going life. Now life is very rule our lives. 

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.

Children with Ataxia 3




Angela’s
Story
Story provided by Angela’s Mom
and Dad

W e have three children, all


beautiful girls; Angela is
our middle daughter. Our world
in a wheelchair that we push be-
cause she is not able to operate it.
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 

4 National Ataxia Foundation


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
food needs to be
Angela is now very Her smile is as
beautiful as ever!
chopped up very stable; she is tough, We continue to
fine and have a she’s a fighter. wait for a cure for
high calorie count. 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 

Children with Ataxia 5




Cameron’s
Story
Story provided by Cameron’s
Mom

C ameron was diagnosed with


ataxia at the age of six. He is
nine years old now and still being
any signs of ataxia. We try to make
life as normal for them as possible.
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
completely fine and do not show of gold. 
 

Visit www.ataxia.org for more information

6 National Ataxia Foundation


Liesel’s
Story
Story provided by her
Mom and Dad

L iesel was diagnosed in June


2014 through genetic testing
as having Spinocerebellar Ataxia
currently under the watchful
eyes and care of neurologists and
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

Children with Ataxia 7


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. 




Maya’s
Story
Story provided by her Dad

A bout a year-and-a-half ago


we realized that (our now
11-year-old daughter) Maya’s
class, it seemed weird that Maya
always seemed to tug and pull on
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 National Ataxia Foundation


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 orde r 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-
phenotype/diagnosis. Maya, we need


chusetts General 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. 

Children with Ataxia 9




Olivia’s
Story
Story provided by Olivia’s Mom

O ur daughter and first child,


Olivia Virginia, was born
without complications in 1994.
great asset in our quest to help
Olivia. When she came into the
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. 

10 National Ataxia Foundation


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 f loor col-
As parents, we
When th e National oring, I learned
were becoming Ataxia Foundation that there was
not a cure for her
familiar with the held its annual disease and my
world of disabled
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

Children with Ataxia 11


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. 
 

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”

12 National Ataxia Foundation


Yasin’s
Story
Story provided by Yasin’s Mom,
Sakina

I ’d like to introduce you to my


11-year-old son Yasin. When
he was six years old, he was diag-
ataxia, I face many challenges.
One of the biggest challenges with
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! 

Children with Ataxia 13


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 

14 National Ataxia Foundation


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 

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.

Children with Ataxia 15


About NAF
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 asPrevention 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
encourages genetic counseling to
Empowering ataxia families
help families make informed
and persons at risk
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. 

16 National Ataxia Foundation


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: naf@ataxia.org
©2015 National Ataxia Foundation. All rights reserved.

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