When my daughter was about six months old, she had a catscan done because her doctor though her head was growing too large too fast. We found nothing to indicate any problem with the size of her head. What we did find though, took me completely by surprise.
There, on the images from the scan, were several glowing white spots on her brain. The doctor indicated that these spots were called Cortical Tubers, and that this meant it was likely that my daughter had a genetic condition called Tuberous Sclerosis (TSC).
She sent us home with minimal information. I was armed with only a single sheet of literature. I began to investigate more online about TSC, and what to expect. Of course, when you look at things on the world wide web, what is highlighted most frequently? The negative.
What I learned though, helped me in the long run. Even after the painstaking hours I spent sobbing, hoping that my wonderful little girl would make it through this journey safely, the signs to be aware of will be with me always.
TSC is a condition that affects one of two genes. Either the TSC1 or the TSC2 genes are mutated, causing tumor growth in various parts of the body. The most commonly affected areas are the Brain, Heart, Kidneys, Lungs, Eyes, and Skin.
Some tumors can grow very large within the brain, heart, and other organs. These tumors require surgical removal. Some tumors are just there, and never grow or reduce in size.
Along with Tumor growth, a person with TSC can also develop seizures, and have cognitive developmental delays, such as Autism. There is a link between Autism and TSC, though scientists don't fully understand the relationship of the two.
Mia, unfortunately, has been affected by all of these. She started having infantile spasms at nine months old. At about a year old, the sure signs of Autism started to present themselves. She has epilepsy, but luckily at this point her seizures are now well controlled. She has tumors on her kidneys, small ones that will come and go in her heart, and one behind her left eye. She is non verbal, and is delayed in most every area of development.
Currently, there is no cure for TSC. The only assurance that a patient with TSC has is monitoring. The brain needs an image taken every two years. The heart, kidneys, lungs, etc, every year. Usually, if epilepsy is present in a patient, at least two checkups with a Neurologist are needed a year. Developmental therapies and early intervention are the only treatments for the developmental side of TSC, if they are present.
TSC is a hard disorer for most, and more people should be made aware of it. I hope that when you leave this post, you will have a better understanding of what TSC is. And don't be afraid to ask more questions, or visit the tsalliance.org for more info!
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