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 This is the BEST PAGE on the entire website.
Why? Because it introduces you to the people who are the most important in
the world of Pelizaeus-Merzbacher Disease...the Patients and the Families.
If a family member or someone else you know is affected by PMD, please send
us an e-mail so we can include your story on this page.
Below you will find a mini biography on each of the Patients and
Families. From here you can send e-mail to any of them. We all LOVE
to help other people, so please write if you get the urge.
 | Candelaria, Nicolas (Texas) |
| Fellows, Kimberly (Florida) |
| Fuentes, Savion (Pennsylvania) |
| Garcia, Alejandro (Iowa) |
| Garcia, Michael (Washington) |
| Goulet, Joshua (Minnesota) |
| Groto, Gabriel (Brazil) |
| Harter, Jack (New York) |
| Helms, Julia |
| Hibbets, Joshua (Louisiana) |
| Johnston, Joshua (Switzerland) |
| Jones, Garrett and Gavin (Illinois) |
| Kinchlow, David (Arizona) |
| LaBine, Alex (Ontario, Canada) |
| Leonard, Jack (New Jersey) |
| Lyons, Christjan (California) |
| Metz, Christopher (Pennsylvania) |
| Raddigan, Riley (Hawaii) |
| Ramos, Christian and Christopher (Florida) |
| Richmond, Cameron (California) |
| Schauer, Abe (Idaho) |
| Simmons, Kirk and Chad (Kansas) |
| Sobieski, Joey (Illinois) |
| Veal, Clayton |
| Woods, Brendan (Rhode Island) |
| ...more to come!!! |
(added July 2002,
updated February 2005)
   
Hi, my name is Nicolas. I'm six but I'm already in my fourth
year of school. At school they give me physical, occupational and speech
therapy. I don't know too much about all of that; I just have fun riding the
school bus everyday and meeting new friends. I also like reading books.
Clifford is my favorite, but any book will do, especially if you let me turn
the pages. My favorite toys are the ones that make noise or music. I love to
play with water, especially on hot days. I like to laugh a lot which is easy
in my family; my uncle Patrick is a professional comedian. I'm getting more
and more independent each day: I get around the house in my wheelchair or my
walker, and at school I'm practicing on an electric chair. In the summer I get
to travel to lots of exciting places with my mommy and daddy (Teresa and Bob).
I like to travel because I like meeting new people and smiling with them. I
even throw kisses to all the pretty girls.
When I was a baby, my mommy and daddy noticed that my eyes
wobbled (nystagmus) when I tried to look at things. That's when I got to meet
a lot of doctors. I've seen doctors from San Antonio, Dallas, Indianapolis,
Detroit, and even Delaware. The doctors have told mommy and daddy that I have
PMD. They also now know for certain that my uncle Tommy has it and so did my
uncle Jo-Jo.
Mommy and Daddy can answer questions you might have about me
and PMD. Especially Mommy because she grew up with her two brothers with PMD. Write to us at:
rcandelaria1@elp.rr.com
(updated March 2008)
  
Kimberly Ann Fellows was born at 9:22 pm May 17th, 2002. She
weighed 7lbs 1oz, and was 19 inches long. Kimberly had a head full of dark
brown hair that stood on end, there was no taming it. She was the most content
and easy going child. She was the youngest of four, she had one older brother
Jeff and two older sisters Amy and Heather. During the first week of her life
we notice some unusual things, like the sudden startling and nystagmus. She
did the usual things like drink from a bottle and ate baby food. As the months
progressed this started to change, she wouldn't hold up her head or try to
roll over. Her pediatrician wanted to find out what was going on, because
Kimberly wouldn't even pull herself up or sit up.
February 9, 2003 Kimberly went to Miami Children's Hospital
to have some tests done. Kimberly had Blood tests, CAT Scans, Muscle Biopsy,
EEG, and a Video EEG and the final test was the MRI with Contrast. When
Kimberly and I left the Hospital after being there for a week, it was with no
answers. In April, 2003 we drove 2 hours to Miami Hospital to finally hear the
results of the tests. I was told Kimberly had "Pelizaeus-Merzbacher
Disease", and that she was the first female to be diagnosed at that
Hospital. I had a million questions and they were unable to give me any more
then "We do not know, usually females do not get as bad as males."
The 2 hour drive back home seemed to take forever, all the things running
through my head and the emotions. From that day forward I learned as much as I
could about this disease. All of Kimberly's doctors did the same. We dealt
with each new symptom as it came to be. She had R.S.V. twice. She also had a
G-Tube installed, and the doctors tried a brace for her back but it just made
things worse for her with the g-tube. Then she had to be on oxygen. She had to
use a c-pap machine at night. She had quite a few visits to the hospital, the
nurses and doctors were very kind to Kimmy, they gave her the best care they
could. Through all the things that Kimberly went through, she was always a
happy child. She rarely cried and if she did you knew that there was something
really hurting her.
Kimberly did a lot of things in her short time, she had a
Helicopter ride, she flew in an airplane, went to Elgin, Illinois while she
was there she went to Brookfield Zoo. She had a grand tour and was treated to
wonderful stories, held all sorts of animals, and fed the Lemers. She also had
the chance to meet her extended family, this was the first time they got to
meet her. She also went to Canton, N. Carolina to visit her big brother Jeff
and his family. She went to the Wiggle's Concert and met the Wiggles! She
loved going to the movies. Her favorite programs were Sponge Bob, Clifford and
the Wiggles. She even liked to watch Ellen!!!! When Ellen would dance Kimmy
would just giggle, she would laugh so hard that sometimes she would lose her
breath. It was great to see her enjoy such things in life. The one place that
she enjoyed the most was going to Church. It was like she really knew when to
make her presence known! Pastor Bleise and Kimberly had a special bond
whenever he was around she would not take her eyes off him. Kimmy loved having
other children around her. She would squeal with delight and laugh, just as if
she was truly in the action. Kimmy liked to be read to and rocked, she would
nestle right into you, and look right at you with those beautiful eyes and
smile her sweet "Mickey Mouse" smile. Kimberly was 5 years old when
she went to her Heavenly home, on September 23, 2007. I have been truly
blessed and honored to have my Little Angel for as long as I did. She has
taught me so much about life, I will always Love and miss her ever so much.
You can write to Deniece at:
niecenkimmy@hotmail.com
(added September 2005,
updated October 2006)
  
 
This is Savion Patrick Fuentes. He was born on April 12,
2004. Savion has an older brother, Joey, and two older sisters, Jazmin and
Cassondra. When Savion was born, the doctors found a moderate to large hole in
his heart. Thankfully, he did not require surgery to repair the hole. The hole
is still there, but it is very small and really doesn't affect him anymore and
is not related to his PMD. At about six weeks, I noticed that Savion's eyes
were having trouble focusing. The doctors diagnosed him with Congenital
Nystagmus, which has since resolved itself. What troubled everyone about
Savion was even after his heart was getting better; he still didn't know how
to do anything. He wasn't reaching, trying to sit or stand. He was very
floppy. His pediatrician referred us to Early Intervention and he was
evaluated showing he was 72% behind physically. The pediatrician also referred
us to Neurology and Genetics. They were stumped, so they ordered an MRI. The
MRI showed a lack of myelin in Savion's brain suggesting PMD. So, on June 16,
2005, Savion was clinically diagnosed with PMD and our lives changed forever.
In July of 2005, the blood test proved positive, and in August of 2005, a
blood test proved that it was genetically passed from me to him as a gene
duplication. Only since Savion was diagnosed do we now know that my Uncle and
my Great Uncle also had PMD, but were misdiagnosed. Along with his PMD, Savion
was having trouble passing hearing tests. After numerous ear infections and
tests showing chronic fluid, tubes were put in his ears in August of 2005.
This has helped him tremendously. He can now say some words, like car (typical
boy) and da da and ma ma, and comprehend what we're saying. Savion has also
been diagnosed with Cortical Visual Impairment (CVI). What the future holds
for his vision is unknown, but it seems to be improving. Every person is
different with CVI, just as PMD. Savion receives Physical Therapy, Speech
Therapy, Occupational Therapy and Visual Therapy. The therapists are helping
him more than I could have ever imagined. Savion hugs and kisses you and most
recently started feeding himself with a spoon. He can prop sit for up to 5
minutes at a time as long as Barney or The Backyardigans are on. He is also
learning to bear weight on his legs and will be getting a gait trainer soon.
Savion army crawls when he wants to go somewhere. Savion is a very loving and
happy baby. He is always smiling and laughing! If you would like to learn more
about Savion, you can visit his website at: www.carepages.com
and type in SavionsJourney and/or you can reach his mom, Angela at: italian_bella75@comcast.net.
(added May 2005)
   
Hi, my name is Randi, and my son Alejandro was diagnosed
with PMD at the age of 8 months. He was a normal 7 lb. baby when he was born.
When he was 2 weeks old I noticed that he's eyes shook back and forth. When I
took him to the doctor I told him and he said that he was just trying to
focus. Then time went on and then his head started to shack back and forth for
short periods on time. So I was worried so I took him back to the doctor and
the did some test and everything was fine. Then as he got older Alejandro
wasn't doing the things that a child his age should do like sitting up or
crawling. So I took him back to the doctor and after many MRI's and lots of
blood work the diagnosed him with PMD. Alejandro is making a lot of
improvement. He walking in a baby walker and crawls around on the floor. He
can only sit up for about 4 minutes at a time using support from one hand.
Alejandro is starting to learn to communicate by using a switch. I haven't
ordered a wheel chair for him because he is making a lot of improvement in his
walker that I don't feel that it's necessary at this time. Alejandro can say
some words. He says mom, ball, oh ya. Every day he babbles more and more and
It seems like there starting to sound more like words. He loves toys that have
flashing lights and he loves music. He moves his head back and forth like he's
dancing. What I have to say about my son is that he's a very smart intelligent
boy and he never lets is disability stop him from doing or trying anything. If
you have any questions please feel free to email me at: RANDIF517@MSN.COM
or 641-684-6875.
(added November 2009)
    
Michael Ace Garcia was born a healthy 8 lbs 7 oz. boy on
October 27, 2008. Which was his exact due date in fact. My husband and I
started noticing his rapid eye movement as he tried to focus on anything at
about 3 weeks old. I took him into his doctor and she referred us to a
pediatric eye doctor. He told me that he had Congenital Nystagmus and would
probably get better with age. So we took the diagnosis as it was and moved on.
When he was a few months old, we started noticing that he was not developing
at a normal pace. In fact, he was not developing at all. He didn't grab for
toys or anything. When we took him into the doctor for his well-child check up
at 6 months, his doctor was becoming very concerned of his low-tone and
delayed development. She then referred us to a Pediatric Neurologist who then
referred us to a Genetic Counselor as well. Michael had gone through several
urine and blood tests. Also he had MRI's and several other tests that gave us
no answers. We were told to put him in physical and speech (food) therapy and
to see if that's what was needed. He did make improvements, but there still
weren't any answers for us. As months went on, Michael never did much. He
never wanted to roll over or crawl. Then Michael's neurologist had called and
said he wanted to do a chromosome test to see if he had any genetic problems
that may be causing his delay. It came back normal. With everyone confused as
to what was going on, his neurologist wanted to do another chromosome test.
This one he had to look deeper into the chromosome to see if he had smaller
defects. While I was awaiting results, Michael's doctor placed my son in early
intervention. And a long 5 weeks later they gave me a call to tell me he had a
duplication of his Xq22 chromosome. When reading the report myself and having
some assistance from a Medical Researcher who could explain it to me better, I
found that my son, at the age of one now, has PMD. I was scared but yet
relieved at the same time. The last year has been hard on us, especially
Michael, trying to find out what was going on. Being pregnant with my second
child, made it harder to cope. But even though I may not know what is really
in store for my son, I can tell you that I wouldn't trade him for the world.
He knows how to say dada and response to 'no'. He is always happy and very
easy-going. Every time he wakes up, he has a huge smile on his face that makes
my day. His attitude through all of this makes things that much easier.
Michael is a joy to be around. But I do admit that I am scared, I don't know
anyone around me that knows what we go through. And I don't know if there are
other things I could be doing to help my son. I would love any advice that
someone could give me, it would help a lot. My name is Tabitha Garcia and my
email is Completelynutz87@aol.com
(added November 2001,
updated September 2006)
  
Joshua is an almost 12 year old boy who was diagnosed with
PMD when he was 5 years old. Up until this time we did not know what Joshua
had. At the age of 3 he was diagnosed with CP, although we knew this was not
what Joshua had, we went along with this diagnosis so that Joshua could get
the services that he needed. Our insurance was no longer going to pay for his
therapies under the diagnosis of developmental delay. Joshua has a duplication
of the PLP gene, of which, his mother is also a carrier. Joshua has always
been a very happy boy. He loves to socialize. Joshua is not able to sit,
stand, or walk independently, but there is so much that he can do. Joshua is
able to feed himself finger foods and feed himself with a fork or spoon. He
drinks from a sippy cup or a cup with a straw. Joshua is able to walk with a
forward walker with moderate assistance. He is able to propel a manual
wheelchair. This does require a lot of time and energy for him, so he also has
a power wheelchair, which he loves. The power wheelchair has given him greater
independence than we could have ever imagined. Joshua is able to slide down
steps. He is able to ride an adaptive trike. Joshua crawls around the house
mainly on his belly, but he also uses a scooter. Joshua is also toilet
trained. Joshua has achieved more goals and done more things than we could
have ever imagined. He is very persistent. Joshua is going into 6th grade. He
is homeschooled along with his sisters Courtney 10, Tiffany 6, Brittany 2, and
Stephanie 8 months old (well the 2 little ones are not homeschooled yet).
Joshua loves his sisters. Joshua does go into a public school for some
adaptive physical education, speech, and a little bit of academics for 2
hours, 3 days a week. As Joshua has gotten older we have realized that it is
difficult for him to keep up with his peers. Joshua has a milder form of PMD,
but the lack of myelin makes the processing time more difficult for him. To
learn more about Joshua write us at: cgoulet2@hotmail.com
(added October 2008)
    
My son, Gabriel Santos Groto is now 8 years old. When he was 3 months old I noticed there was something wrong
(nystagmus). Because I live in Brazil, only a long time after that his condition (PMD) was finally diagnosed. Very few doctors here have heard of this disease. The little information I have about the condition was through good people like Jeff Leonard, who keep me updated about my son's disease. My son is a blessing in our lives, only brings me happiness, in spite of all the difficulties and needing help to do basically everything. Nowadays Gabriel lives with me (his father), Priscila (his stepmother) and his 1-month old brother Rafael. We are a very happy family and we hope one day someone will find the cure for Gabriel's condition, for God will give the scientists the wisdom for one day they'll find the cure for PMD. I don't speak English well, but anyone who'd like to know about Gabriel can email me to:
paulo.groto@terra.com.br and I'll be more than happy to reply.
(added February 2010)
      
Jack is an adorable little boy who brings an incredible
amount of joy to those fortunate enough to be a part of his life. Jack was
born on April 14, 2006. Apart from going into labor a month early, the
pregnancy and delivery were completely normal. The moment Jack was born,
however, everything changed. He did not cry and his chest caved in with each
breath he tried to take. He made a stridorous sound with each inhale and was
unable to tolerate CPAP his first night in the NICU. He was intubated for 2
weeks and then weaned to CPAP for the next 6 weeks, but he was never able to
breathe on his own or swallow due to his extremely low tone. He had a
gastrotomy when he was 1 month old and tracheostomy when he was 2 months old.
Jack's rotary nystagmus was evident early on. After 10 weeks in the NICU, our
family moved to a rehabilitation hospital where we learned how to take care of
Jack and on August 2, 2006 we took him home.
We still didn't have a diagnosis, as every test done in the
NICU came back negative. In November 2006, we saw a neurologist who had seen
PMD before and suspected it immediately. At that point, we got in touch with
other PMD families through the foundation and were comforted in seeing the
smiling faces of these thriving families. In February 2007, the results of
genetic testing confirmed Jack's diagnosis as the infantile onset connatal
form of PMD. We have no family history of PMD, yet I was found to be a
carrier. While this was difficult news to hear, we were reassured that nothing
about Jack had changed; he was still our little boy with that remarkable
sparkle in his eyes.
Jack received Early Intervention therapies until he was 2
˝, when he started preschool at a school for children with multiple
disabilities. Jack in non-ambulatory and nonverbal and uses a wheelchair,
stander, and communication switches to make choices at school. Listening to
stories and music are among his favorite activities. He is thriving at school
and continues to charm his therapists and teachers with his radiant smile.
Jack's baby sisters, Meghan and Caroline, were born on
January 3, 2009. Hearing the girls coo, giggle, and babble has brought him
more joy then anything else ever has before. He adores them and trusts them,
even when they playfully pull on his g-tube extension! Please feel free to
contact us a harter_katie@yahoo.com
for further information about our family. We can't thank the other families we
have met through the foundation enough for the advice, encouragement, humor,
and perspective they continue to provide us with.
(added November 2009)
    
Hi, my name is Alexia Tarantini. My beautiful
daughter Julia Lee-Ann Helms was diagnosed with PMD, October of 2008. Julia
was born on
April 3, 2005
,
and was a healthy 6 1/2 lbs baby girl. At about 2 1/2 months we noticed some
things about Julia that worried us. Julia kept throwing up right after her
feeding and her eyes moved in a shaky movement. Of course as a concerned
mother I took her to the pediatrician, and they said not to worry its normal.
After 2 weeks she still was not keeping her bottles down. I took her back to
the pediatrician and they finally decided to send her to a neurosurgeon and to
put her on a pre digested formula. After visiting with the neurosurgeon, the
snow ball effect began. It was one specialist after another, after another,
after another. Over a course of 3 years. Finally with the discovery of an MRI
showing her myelination was delayed, and Julia having nystagmus, hypotonia,
speech delay, and all motor skill delays, and extensive genetic testing, they
finally had a diagnosis after 3 1/2 years. Pelizaeus-Merzbacher Disease!
It was a bitter sweet moment, her father Travis and I knew what Julia had, and
what we were up against. We were also told there was nothing we can do! I will
not accept that, I am determined that one day before the disease takes over
there will be a treatment out there for all children with PMD. Julia is the
joy of our life, she is so easy going and happy. She loves life, despite
everything she has gone through and still goes through. Julia
has Speech therapy, Occupational therapy, Music therapy, and Physical therapy
once a week every week. In addition to follow up visit to all her doctors
every few months.
I can not imagine not having my precious princess in our life. Like I said she
is just a joy to be around, she make you laugh and smile every minute of
everyday! Julia, is a true blessing to all of us, and a gift from God. Just
when you think you’re having the worst day ever you just go to Julia and she
makes everything go away. I am very fortunate to be able to stay home with her
and spend every waking moment with her and not have to leave her. Julia has a
big brother, Brendan, who is 7. She absolutely loves and adores and he is such
a good big brother to her, and loves her so much. Julia is definitely a
Daddy's Girl. She loves her Daddy, Travis very much. Julia resides in
Phoenix
,
Arizona
with her Mommy Alexia, her big brother Brendan, and her soon to be step Father
Lance. Julia enjoys doing anything and everything. She loves water, and loves
to go swimming. She loves being outside and playing. She is definitely a go
with the flow child. I have hopes and will not give up, and I hope any parent
out there with a child that has PMD has the same hope and does not give up.
If anyone has more information for us we are open to hear from you. Thank you
for taking the time to read Julia's story!
The Tarantini-Helms Family can be reached at: lexiehelms47@cox.net
(added January 2003,
updated April 2007)
  
Joshua was born in August 2002 and diagnosed with PMD when
he was four months old. He was full-term and a big baby (8 pounds, 14 oz).
Although my pregnancy was normal, Joshua faced obstacles from the first moment
he began to enter the world. He was delivered by c-section (due to failure to
progress) and swallowed meconium in the fluid. This made it difficult for him
to breathe at first and he was rushed to the NICU. When we first got to see
him a few hours later, we noticed his noisy breathing (now we know it's called
stridor) and his deep chest compressions. The nurses told us he had had two
seizures. He ended up having one more seizure a few hours later (neither David
nor I saw any of these), but no more after that. About five days after he was
born, his eyes started dancing. The doctors didn't know what to make of that,
but at first the neonatologist told us that was normal. Joshua was fed by a
tube at first, but by the time they released us from the hospital (at 8 days
old), he was taking from the bottle well. After that, Joshua seemed to be
doing well, but when we took him to the pediatrician for his 2-month
appointment, we discovered he hadn't gained any weight since his one-month
checkup. So we took him to Children's Hospital in Birmingham. We found out he
had Grade 3 reflux, and because of his breathing difficulties (which they
believed was contributing to his failure to thrive) he had surgery on October
30 (2 months old) to perform a tracheostomy, a fundoplication, and to give him
a G-tube. He adapted to everything well. He is a very good patient. The
hardest part for me was taking his voice away, but we may be able to try a
Passy-Muir valve soon. Now he is gaining weight (he's at 13 pounds) and
smiling constantly at his daddy and me. It's hard to know what else he
understands, but he does seem to be happy most of the time, and he is a very
good baby. Now we know I have a family history of PMD. Only since Joshua's
diagnosis do we know what to call my cousin's, uncle's, and great-uncle's
condition. Since my brother is healthy, we thought perhaps my mom wasn't a
carrier - but apparently she is, and at least now we know what to test for and
how. We have good spirits, though, and love Joshua immensely. He is a very
special boy in many ways. Our future together is bright! To find out more
about our special Joshua, email me (Aleecia) at: dhibbets@jam.rr.com
(added September 2001,
updated July 2003)
  Josh, your smiling face
always brightens our day!
Josh is a 6-year-old red-headed boy who was diagnosed with
PMD at age 4 months. Mom and Dad (Nancy and Jeff) first noticed his low tone,
head lag and bilateral nystagmus (involuntary rolling of the eyes). His
mutation was found to be a duplication of the PLP (proteolipid protein)
gene. His developmental stages are much delayed. He is unable to
sit for longer than 1 minute unassisted and is only able to walk with his pony
walker. He uses a commando-type crawl to get around the house. He
can feed himself finger foods and can drink from a sippy cup. He is able
to maneuver himself in his power wheelchair and loves to chase his dog Shelby
as well as his sister Brittney with it. Josh is a very happy boy who is
very social and loves school where he mainstreams into a kindergarten class as
well as attends a special education class. He also loves going to
physical, occupational and speech therapy. He recently became a big
brother to sister Brianna and loves his new role. Josh loves books and
balls and knows all of his colors and can count to 10. Despite his many
physical challenges, Josh always keeps a sunny disposition and is a great joy
to his family. To learn more about Josh or hear more from any of the Johnston's, you can send an e-mail to:
switzernancy@hotmail.com
(added February 2009)
Picture of the Jones family in
Hawaii courtesy of Make-a-Wish for Gavin
I am a wife of 15 years to Gordon, a Chicago Firefighter,
and mother of two fabulous boys with Pelizaeus Merzbacher Disease. I am also a
Registered Nurse with a passion for Interior Design. We are a very active
family and love to travel. We also have a wonderful Chesapeake Bay retriever
named Duchess.
Garrett, just turned 11, was diagnosed at 3 years old. He
has gastric reflux, slurred speech, tremors, incontinency, and is unable to
walk and he wears glasses. He is in 5th grade general education and he is
right on target with his age group. Garrett uses a power wheelchair and is
very popular in school. He plays Power Soccer, yoga, swims and loves to read
mysteries. Originally, we were told that due to his developmental delay with
walking and sitting, he would probably be unable to read. Also, prior to his
diagnosis of PMD, he was diagnosed with CP (a "garbage term", told
to me by our 1st pediatrician). Apparently, Cerebral Palsy is used when some
physicians are not sure what your child has. I was later told by a neurologist
that we should call it something to get services. Finally, another neurologist
diagnosed Garrett with leukodystrophy, and we set out to begin blood test to
find out which type. We found out that I was pregnant again and during the
same week, Garrett's last blood test revealed PMD.
Then, we set out to find whether we were having a boy or a
girl. Via amniocentesis, we not only found out that our second child was a
boy, but also had PMD. My husband and I had already fallen in love with him no
matter what the diagnosis. Garrett's little brother's name is Gavin. He is now
7 years old and is in 1st grade special education. He has severe gastric
reflux, tracheal malaise, head and hand tremors, he also wears glasses, has
incontinency, and is unable to walk or talk. He uses a power wheelchair, as
well. Gavin has a trach and a g-tube. He plays Power Soccer, enjoys playing in
the water with Garrett and loves to wrestle with him too. Gavin also enjoys
listening to Garrett read to him.
Life, of course, can be very challenging, but we love living
it. To learn more about the Jones Family, you can send an e-mail to: gmjones@sbcglobal.net
(added January 2002,
updated May 2004)
  
Hi, my name is David. I will be turning
4 years old on January 30th. I was diagnosed with PMD on July 7th,
2000. Up until that day my family did not know exactly what was wrong with me.
At my 6 week old check up I was diagnosed with bilateral nystagmus. I was not
progressing like I should have been, and was diagnosed as being
"developmentally delayed". After 3 MRI’s and numerous testing, my
neurologist suggested a blood test to determine PMD. This came back positive
and showed me as having a duplicate PLP gene. My Mommy was tested also and
showed this as well.
Don’t think that I let this affect me
in a negative way. I may not be able to sit or stand, but get me in my manual
wheelchair and look out!!!! I knew how to work my wheelchair the minute we got
it. I was so proud of myself!!! When I am not in my chair I’m able to combat
crawl and roll around to where I need to go. I can also feed myself finger
foods and drink from a sippy cup.
I attend a preschool 4 times a week, as
well as physical, occupational, and speech therapy 1x per week. One thing I’ve
almost accomplished with little help is the ability to get myself out of my
wheelchair. I told my Daddy very clearly last week that I "Love
you". Daddy’s eyes got a little watery, but I know he was happy!!!
I love to watch Blues Clues videos. I
also like to play with school buses, color and read books with my family. My
Mommy and I like to go for walks at night before I go to bed.
My family loves me very much!! Mommy
and Daddy get a lot of support from everyone. I am a very lovable little boy
and know just how to return that love to everyone I meet. If you would like to
learn more about me you can email my Mommy (Krissy) at: flincky68@yahoo.com
or my Daddy (Dave) at:
kiyannasworld@qwest.net
(added November 2009)
 
Alex was born
in Pembroke, Ontario, Canada. He attended Our Lady of Lourdes School from
Kindergarten to grade 7 and later Bishop Smith Catholic School with his two
sisters Emily and Adrienne until he turned 21. Alex was a courageous boy
facing many surgeries and physio therapy throughout his life and always had a
smile that would melt anyone's heart. Alex most enjoyed being taken for long
walks in his wheelchair and encountering many people. At Alex's brief wake
hundreds of mourners said how Alex had reached them deeply in so many ways.
Alex will be forever in our hearts and we will never forget him.
Love
you forever, Alex.
Mom
and Dad
(Pat
and Brian)
and
sisters
(Emily and
Adrienne)
(added November 2000,
updated Fenruary 2010)
      
God
Bless You, Jack. You've taught us more about life than would ever have
been possible.
Jack Leonard is a 9-year-old boy who has the most severe (connatal)
form of PMD. Jack is about 33" long and weighs approx 18 lbs. When Jack was born, his parents had never
heard of PMD and had no idea there was history of PMD in his mom's family.
But, they knew something was wrong. No matter how much he ate, Jack
failed to gain weight and within one week of birth Jack demonstrated nystagmus.
At birth, Jack had severe stridor. This was later diagnosed as
laryngomalacia and vocal cord paresis. Jack does not talk, walk or crawl
and is never expected to do so. Then again, he was never expected to
make it to his first birthday either, according to what his doctors said when
he was 4 months old. Jack is a proud big brother to a
healthy boy named Nathan (now 7 years old), and he also has an older
sister, Rachel, who is 11. Jack hung up his cleats and retired from Miracle
League baseball in 2009. He is now very happy being a TV junkie! His dad, Jeff, is an active member of The PMD Foundation, and the
volunteer webmaster of this site! To learn more about Jack, or hear more
from any of the Leonard's, you can send an e-mail to: jeffleonard@pmdfoundation.org
Also, Jeff has dedicated a website to his son, Jack. You
can see that at: http://www.jeffleonard.com
(added November 2002,
updated April 2007)
  
Christjan remains a happy, smiling, exuberant boy. His is
now 6 years old, 30 pounds and attends a mainstream kindergarten every day.
90% of his day is spent on activities with his general class, while the
remaining time is spent in a special education setting (services listed
below). He has an instructional aid with him in class every day. He is
learning is ABCs, patterns, math, reading – the normal kindergarten
curriculum. All agree that he has what it takes to point to appropriate
shapes, colors and patterns, but his responses fall outside of the
standardized test windows. We have decided that Christjan will spend next year
in kindergarten to work on his skills before moving on to first grade.
Christjan has really responded well to the kindergarten
environment. He loves being around the other children and interacting. He is
attentive and aware of what is going on in class and loves singing time. He
knows lower case letters. He understands concepts and completes puzzles with
large knobs or magnetic. He has a good attention span, but can fatigue
visually (due to nystagmus) and physically. His favorite activities at school
are riding his tricycle and playing in the sandbox. He uses a fisted grip to
hold a large crayon to write. He uses a pair of adaptive scissors with hand
over hand assistance. He is being trained to use a Quickie power wheel chair.
Christjan has been with Ride to Walk (RTW) for two years
now. Due to his low muscle tone, he requires a back rider (a therapist riding
behind him on the horse) to help stabilize him during rides. Christjan’s
trunk control has improved in the two years he has been riding, which we
attribute to his riding. His head and neck control have improved as well. In
recent months, Christjan’s legs have gotten tighter (difficulty spreading
his legs apart to straddle the horse). The riding motion helps loosen his leg
muscles, which makes him more comfortable afterwards. He has had many
milestones while at RTW.
We would love to hear from you via e-mail to: tklyons4@yahoo.com
(added September 2001,
updated August 2004)
  He is our inspiration
and our hero.
Christopher is now 14-years old. He is an extremely happy
boy. He has pretty much plateaud over the last couple of years, which means he
has not gotten any worse. He loves school and camp in the summer time.
Christopher can still talk, write, do math, etc. He is not
your "typical case" of PMD, but what does "typical" mean
when it comes to rare diseases. Every child I have met is different. His
deletion/mutation is in what was thought to be a "no-nonsense" part
of the proteolipid protein, which means that the doctors thought originally
that this part of the protein did not have an effect on PMD. His lower
extremities are the most dysfunctional. He is in a wheelchair, but he can
crawl faster than anyone I know. He does not like to be told that he can't do
something (due to his physical challenges), which is pretty inspiring to all
of us.
He still loves to play his Playstation games, listen to
music CD's, wrestle, hit golf balls, swim and flirt with GIRLS! He will try
anything. We are very thankful to have been blessed with such a superb young
man.
If you have any questions or would like to contact us,
please don't hesitate to e-mail:
Christopher's Father, Jim Metz at: james.metz@siemens.com
Phone # 610-637-9415 or contact Christopher's Aunt, Jeanette Metz Nadwodny at:
jeanette.nadwodny@arkemagroup.com
Phone # 610-718-9991
(added July 2003)
 
This is Riley. He is 2 years old and was diagnosed with a duplication of the PLP gene in November 2002. I am Cori, Riley’s mom, and although there was no family history of PMD, I also have the duplication. My husband, Marty, is an officer in the Marine Corps, so although our roots are in California, we are currently stationed in Hawaii. Riley is a very happy child. His favorite things are swinging, swimming, reading books and watching Baby Einstein and Signing Time videos. If you would like to contact us, our email address is:
mlclrad@hawaii.rr.com
(added February 2005)
Christian and Christopher are 16 and 12 years old. They were
diagnosed with CP when they were younger and with PMD when we moved to Orlando
5 years ago. Christian was tested and showed a duplication of the PLP gene.
Since Christopher has the exact same condition, he wasn't tested. We would
love to hear from other families and their experiences. We can be reached at: ramoso035@aol.com
or cristaliz025@aol.com
(added October 2003,
updated May 2005)
   
I am now 4 years old, and boy have I grown. I am talking
some, I say "Ma Ma, Da, Ba Ba, All Done, All Gone, More, I love you, Hi
ya, Oh Yeah, Ball, Whoa, Bye, Berk, Nana, Yellow, Roll," probably a
couple more that my mom is forgetting about. I am getting ready to get a brand
new wheel chair, a power chair. I can not wait! I now get speech therapy,
physical therapy twice a week, one of those times I get to ride a horse! That
is my favorite one! I receive pre-school at home, a teacher comes to my house
3 days a week, Tuesday, Wednesday, and Thursday, she stays 2 hours on two of
those days and a hour on the other day. Any questions about Cameron you can e-mail me (Linda
Richmond) at: lindarichmond@comcast.net
and we would love to hear from all!
(added August 2001)
Abe Schauer is a 4-year old boy who has a point mutation in
his PLP gene, thereby causing PMD. Since his mother (Carla) is not a
carrier, this mutation started in Abe for reasons that are unknown. Abe
cannot hold his head up very well on his own, and he cannot sit up or crawl
unassisted. Carla has put together a section entitled Enabling
Abe that demonstrates how to modify strollers,
seats, wheelchairs and much, much more to provide comfort and increased
ability for children with physical disabilities. To learn more about Abe,
"Enabling Abe" or hear more
from any of the Schauer's, you can send an e-mail to: carlas@dmi.net
(added July 2002)
 Chad
Simmons, 31, on left and Kirk Simmons, 34, on right.
Kirk was born in 1967 and was originally diagnosed with
Cerebral Palsy. Chad was born in 1971 and when he showed similar symptoms we
went back to all the doctors and the neurologist came up with PMD. We were
told the boys' life expectancy was 30 with last 10 years of life needing total
care. And that the disease was progressive etc etc. And happily that is not
true.
Kirk and Chad are very healthy, have hesitating speech but
are usually understood with some patience on the listener's part. They have
never walked and operate power wheelchairs. They both have girlfriends and are
happy most of the time. Kirk volunteers at the local police department and
Chad volunteers at a local pet store.
My name is Sandi and I am the MOM. We have no family history
and recently PLP duplication was found. I could go on forever. I feel spending
time and sharing with other PM families helps me recharge. I would love to
hear from you at: sandis2@mindspring.com
(added December 2001)
 Joey, we are truly blessed to
have you in our family. Your smile warms our hearts!
Joey is our 2 year old son born August 28, 1999. He has two
older sisters, Carolyn age 11 and Samantha age 5. Joey was initially diagnosed
with athetoid cerebral palsy at 9 months old. We first noticed Joey had
problems at three weeks old when his rotary nystagmus started. We knew Joey
had something but athetoid cerebral palsy did not seem right. It raised more
questions than answers.
We decided to take matters into our own hands and got him
into a pediatric neurologist and geneticist in Chicago. Through the process of
elimination and a second MRI, Joey was clinically diagnosed at 11 months with
PMD. Next, we sent a blood sample to Indianapolis. In February of 2001, the
results came back positive. Joey has a duplication of his PLP gene. We finally
knew what we were dealing with.
Joey is a sweet and loving little boy with beautiful blue
eyes and blond hair. He can't walk or crawl but he loves to roll and can bear
weight on his legs for a little bit. He can reach for toys and is getting more
accurate. He loves toys that spin and make sounds. He can now drink from a
sippy cup with help. He loves to listen to music especially when he eats.
Currently, his favorite TV show is Sponge Bob Square Pants but he also likes
Teletubbies and Baby Einstein. Despite all of his difficulties, Joey is
generally a happy boy who knows what he wants and tries his hardest to achieve
success. He is our inspiration and we love him very much. If you have any
questions, or would like to know more about Joey, please e-mail Joey's mom or
dad (Amy or Ray) at: SobieskiRbeerman@aol.com.
We would be happy to share.
(added March 2008)
   
Our angel, Clayton Veal, was born December 12, 2004 and left
us too soon on June 5, 2007 at 2 1/2 years of age. He was so sweet. He touched
so many people and taught everyone a lot about life. We were so glad to have
been his parents, and we were so proud of him. His favorite things were music,
rough housing with dad, enjoying a little fresh air breeze outside, and
sharing smiles with all of the great people in his life. Thank you Clayton
Veal for being a wonderful son we will miss you so much. Love, Mom and Dad,
Tara and Matt Veal
Please feel free to view an amazing slideshow tribute to
Clayton Veal. Clayton's Uncle did an amazing job putting it together for his
vigil. go to www.notsosinful.com, on
the right hand side there is a folder "In Memory of," inside this
folder if you click of Clayton's name, it will start the slide show. Make sure
you have the volume up so you can hear the wonderful singing. :)
To learn more about Clayton, or to contact the Veal's,
please email: mjveal@comcast.net
(added November 2002,
updated June 2006)
  
Brendan is 6 years old and is starting kindergarten in the
fall. He has been in a full day program for 3 years and loves school. He was
recently diagnosed with Epilepsy that is not believed to be related to his
PMD. Brendan loves interaction with other children. He has many friends. He
recently received a Jenn swing through gracious donations from the Lions Club
and Rotary Club in our area. Brendan does not eat well, still eating PB&J,
chicken nuggets and his absolute favorite is McDonald’s cheeseburgers... but
hold the pickle. He finally wears his glasses. Brendan has been driving his
power chair since just before Christmas. His name is even embroidered on his
leather seat. He got a new Sleep Safe bed at the same time. He loves it so
much he refuses to sleep anywhere else now. Brendan is very smart and is
always looking for ways to figure things out. He has been learning sign
language and can sign a few essential words. He still loves to “beat up”
his 2 older brothers. Brendan is truly an exceptional little man..
To hear more about Brendan, you can write to his mom, Kathryn, at: Kmwoods76@cox.net.
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