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Allison PDF Print E-mail

Allison is my seven year old daughter, who was doing great, meeting and exceeding her milestones, and in the 90-100 percentile of her growth charts, until the age of 7 months. Then she got an ear infection, and in the middle of the night she had a seizure, at which point we took her to the hospital. That was the last time she could sit. From there on she lost all her milestones, (head control, motor skils), holding her bottle and swallowing, and lost weight and declined in every way. The spasticity and dystonia took over he body and rule every aspect of her life today.

Various medications were tried, from Valium to Baclofen to Klonopin to a few others I forget, none worked to relieve her tightness. She had a g-tube installed and then a g-button, and it is her only source for food intake today. A little over one year ago she had a baclofen pump installed, after a trial seemed promising, however the permanent pump has been a disappointment, and shows little effectiveness. We are considering having it removed, but are not yet sure.

The GA1 has done its brain damage, and is of very little concern at this point. Her diet consits of Pediasure formula, and the only medication she is currently on is oral Klonopin. The main problem to deal with is caused by the Basal gangalia and the other damage in the brain, and the only thing we can do about it is physical therapy. Even if they find a gene therapy tomorrow to repair the genes that cause GA1, it will be of no help to Allison, or any other child who has sustained Basal Ganglia damage from it. She and all the other children have to deal with, and be treated for the Dystonia and Spasticity created by the atrophyof several parts of the brain. Treatment of these symptoms seem to be extremly difficult for modern medical science,as I have beent old many times, they know very little about how the brain works.

So, our lives revolve around the needs of this child, who continues to spiral downhill physically, while making strides mentally, especially with her new found ability to communicate her wants and desires, and show her knowledge through the use of an eye gaze board. She can now let others know when and if she wants to be fed, and to answer questions in class, and actually participate in the curriculum. Allison now sleeps through the night, she could -and we could not- sleep through the night for years. She has gained weight,after it stayed stagnant for about 3 years. She continues to have problems with vomiting and there is no resolve in sight, secerla medications have failed to stop, or even reduce the vomiting. Allison wakes up all twisted in the morning, she gets formula and medications, vomits, and goes to school. She like school a lot, and tries hard. She comes home, takes a nap, and slowly gets more stiff and irritable as it gets later and she gets sleepy.

What does the future hold? Nobody knows. As she seems to impove academically and with her ability to communicate, her spasticity and dystonia and vomiting seem to get worse. This makes envisioning a stable future at a stable level of ability impossible, and makes any future uncertain. That is GA1.

-UPDATE-

Allison has, after a visit to the Kennedy Krieger hospital for Children in Baltimore, started a new medication, called Artane. She is currently on a low dose, which is slowly being increased. The patients for whom this medication works are on very high doses, and we are not to expect any visible changes for a while. The drug attempts to achieve chemically, what a pallidotomy does surgically. It tries to lessen, or reduce, the background "noise" in the brain tht causes the spasticity and dystonia, thereby theoretically reducing those symptoms. We will wait and see. Allison is enjoying the summer, she likes camp and she likes going to the pool, she is less enthusiastic about entering the pool, preferring to observe her brother make a fool of himself.

For more info. on Allison, GA1, photos , etc, go to : http://www.ga1.freeservers.com

 
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