Guest guest Posted July 13, 2008 Report Share Posted July 13, 2008 I read this acticle and have a question about the the following quote. " The disorder is mostly known to be inherited from generation to generation, but it can skip a few. " This is not correct for 1A is it? I thought that if you did not have it, you could not pass if onto a child. In other words my 2 sons that believe do not have 1A cannot pass it onto any other their children. Thanks Matt Syktich seeks to inform others about rare disorder 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. " Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 13, 2008 Report Share Posted July 13, 2008 Hi Matt, Since CMT 1A is autosomal dominant there is a 50/50 chance of the gene mutation to be passed on to offspring. Then affected children can pass the CMT gene to their children. Unaffected children do not have the abnormal gene in their DNA and cannot pass CMT to their children. Skipping generations could suggest a recessive pattern of inheritance. Gretchen Quote Link to comment Share on other sites More sharing options...
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