Syktich seeks to inform others about rare disorder

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Syktich seeks to inform others about rare disorder

By Ali Veneziano Staff Writer

http://www.theprogressnews.com/default.asp?read=13252

For Syktich and her daughter Cierra Kephart of Clearfield, that

15-step routine is their reality. The fun doesn't stop there either.

Cierra's normal life also involves attending therapy sessions three

times a week and traveling to St. 's Children's Hospital

in Philadelphia every six months for checkups and fittings for new

leg braces.

In fact, a normal doctor's visit for Cierra consists of answering an

exhaustive list of questions, as well as performing physical tests of

balance, hearing, sight, blood pressure and reflexes. These visits

check the progression of Cierra's disorder from the lower extremities

upward.

What is her disorder exactly? Two years ago, she was diagnosed with

Charcot-Marie-Tooth disorder, the most commonly inherited neuropathy.

Discovered in 1886 by Charcot, Pierre Marie and

Henry Tooth, CMT is also known as hereditary motor and sensory

neuropathy, peroneal muscular atrophy and peripheral neuropathy. It

is a disorder in which there are mutations in the protein-producing

genes used to create and control nerves, according to the National

Institute of Neurological Disorders and Stroke. The nerves slowly

degenerate over time, leading to muscle weakness and reduced ability

to feel. The disorder primarily affects the peroneal muscles located

on the front of the legs and feet below the knees. Afflicted people

lose normal use of their extremities.

Cierra began walking late at 14 months. She fell a lot, but her

mother never realized there was a serious problem until a vacation in

Florida highlighted the fact that young Cierra couldn't move her toes

to completely put on her shoe.

After going from doctor to doctor around the area, no one could tell

Ms. Syktich what was wrong with her daughter. Some even said she

simply " walked funny. "

" We were both just so sick of her being poked and prodded, " said Ms.

Syktich. Finally, they traveled to St. 's Children's

Hospital, where Cierra was properly diagnosed.

It was discovered that she had a 2-centimeter lift on her right foot.

When she returned to a local doctor to be fitted for her leg braces,

though, he didn't put them on correctly, which actually hurt Cierra

more than helped and led to her using a walker for a year.

It is estimated that CMT affects 2.6 million people worldwide, with

every 1 in 2,500 people in the U.S. suffering its symptoms. The

disorder is mostly known to be inherited from generation to

generation, but it can skip a few. In rare cases, CMT's gene mutation

can occur spontaneously in a patient, according to the CMT

Association.

The disorder is similar to muscular dystrophy because of its loss of

muscle control. Unlike MD, the defect is not in the muscles, but in

the nerves that control the muscles, which leads to a myriad of

complications: foot-drop walking gait; foot bone abnormalities; high

arches and hammertoe; problems with balance and hand function;

occasional cramping; loss of reflexes; scoliosis; and breathing

difficulties.

Diagnosing the disorder is difficult but can now be done via a blood

test. In the past, researchers based much on family history, as well

as symptoms and effects on the individual.

Few people seek opinions on the disorder in childhood, which is why

Cierra's diagnosis and understanding at age 9 created such a unique

situation.

When she was diagnosed two years ago, there were only two known forms

of CMT. Today, there are more than 40, and doctors use tools like

electromyography and nerve conduction velocity testing to determine

which type. Cierra has Type 2.

Although there is no known cure or treatment to reverse the disorder,

CMT isn't thought to be fatal. Most diagnosed people have a normal

life expectancy. The pain and severity of the disorder depends from

person to person. While some with the disorder suffer so much that

pain-killing drugs are used, others can go day to day using only

physical therapy. One man with CMT, for example, recently hiked the

Appalachian Trail.

Similar to that man, even though Cierra has this disorder, she still

is a normal little girl who faces all the challenges of an 11-year-

old. According to a family friend, " Cierra is basically a very normal

kid just with special challenges. " Instead of riding the bus to

school, a van picks her up. Once at school, an aide helps her

throughout the day.

Cierra also has great friends who understand her problem and

carefully look out for her safety. With her two best friends, she

likes to go swimming, play on a trampoline, play videogames and have

sleepovers, said the 11-year-old.

Treatment for CMT involves a lot of communication and cooperation on

Cierra's part. After receiving medical treatment, she needs to

maintain her physical state through various forms of exercise, like

the 15-part regimen she follows each day.

Surgery and orthopedic devices like braces are also treatments.

Surgery is something the mother-daughter pair has thought of, but

they are going to wait until after Cierra's bones are developed,

around age 16.

Although they haven't been tested for the gene, no one in Ms.

Syktich's family has ever had CMT. She is not planning to have

another child, but said she would like to get tested.

Organizations do exist to help the treatment and research of CMT. The

East Coast, in particular Pennsylvania, seems to be the principal

case study area with the highest population density for people

afflicted by the disorder.

The CMT Association, based out of Chester, was founded in 1983 to

create patient support, public education, promotion of research,

treatment and cure, as well as awareness. Another organization, the

CMT Foundation, founded in 2002 in stown, also formed to support

the disorder. Cierra and her mother are highly active in the CMT

Foundation, making trips to stown for support meetings.

The CMTA organized the first annual Strategy to Accelerate Research

dinner on June 11 at the Nittany Lion Inn, State College, with Hall

of Fame Coach Joe Paterno as its spokesman. Mr. Paterno became

involved with the disorder several years ago, making commercials to

benefit the foundation's research. His friend's wife is afflicted by

the disorder.

Many outlets exist for those suffering this disorder. Many people,

however, still have no knowledge of it, what it means or how it

affects people. " We don't want pity - just understanding, " said Ms.

Syktich.

This main problem surrounding those affected in this area bases

itself greatly on ignorance. Lack of knowledge leads to many

misdiagnoses, like people associating the disorder with arthritis,

and a lack of help. " Resources are hard to find, " said Ms.

Syktich. " If we need something, we pretty much have to go to

Philadelphia. "

Daily life in the area is a challenge for Cierra and her mother, as

well. Simple trips to Wal-Mart made Ms. Syktich resort to using

pillows in the shopping cart for her daughter due to the lack of

proper wheelchairs at the time.

Although she might have strong arms and legs, it's in the

extremities, like the hands and feet, where Cierra is affected,

making it difficult to do simple things like turning doorknobs. This

problem terrifies Ms. Syktich, making her fear leaving her daughter

home alone. " It's a fear that a lot of people don't have or even

think of, " she said.

Above everything, Ms. Syktich struggles with feelings of frustration

about her daughter's situation. Family and friends are understanding

and supportive to a point, but with daily life and care where it

matters most, the help isn't there. " It really amazes me to see the

dedication she has as a mother, " said a close friend. " She has to

deal with this issue pretty much alone. "

From this loneliness come feelings of isolation. There is, of course,

strength in numbers. Although Ms. Syktich has seen several people in

Clearfield with the disorder, no support group exists locally.

Instead, the mother-daughter pair must travel to Philadelphia and

stown for meetings. At the support groups, they discover others

have the same feelings and learn of new treatments and aids.

Recently, there have been advances in research where dogs have been

trained to aid people with CMT. The animals will open doors and

cabinets. Black labs, especially, are trained to work with these

people. Ms. Syktich urges that anyone who is getting rid of dogs,

especially black labs, should donate them to help people with CMT.

She also has ideas of beginning a local support group, forum or phone

number to contact in this area for discussing CMT. She urges people

to call a physician if they have symptoms and just wants people to

know that they're not alone.

If not suffering personally from the disorder, Ms. Syktich urges

everyone to do something, whether it's putting something in the

church bulletin or asking what you can do to learn more about the

disorder.

In the future, Ms. Syktich hopes the area's awareness will grow. She

said that she learned a lot from other parents who already have

children with similar disorders. " If I can help one person, it'd be

worth it, " she said. " I wouldn't want my worst enemy to deal with

this alone. "