I Got "lucky" In The Gene Pool

I was born with a genetic disorder called Tuberous Sclerosis Complex. A defect in my genes causes benign tumors to grow in many of my organs and I had seizures as a baby.  I thankfully as a child had a fairly mild case but developed problems shortly after moving to New York in my mid twenties. As a result I also have LAM (lymphangioleiomyomatosis) which causes destructive cysts to form in my lungs.  I was diagnosed at 26 (about 6 years ago) and have a little less than half my lung function remaining. There is no cure and without this drug I'm trying off-label to slow the course most likely at some point I may need a lung transplant. I've had kidney issues as result of the TSC as well and it seems when I get one thing under control the other acts up. 
Yet, I still work and try to maintain a life for myself and do pretty well all considering. 

To look at me you'd never tell that I've had 5 lung collapses and many surgeries to address my issues. Lately I've noticed I've been having a lot of processing difficulties and problems understanding my own emotions as well as those of others - yet I am trying to face this.

I thank people in this group for being open about their struggles and I understand.  Living with any disability - invisible or not is difficult. My thoughts are with you all.

I hope others experiences can help me make sense of the way I've been feeling lately. Overall am a positive person most days but seemingly feel drained and sometimes confused as of late as I continue to deal with everything that was thrown at me after enjoying an albeit brief reprieve from hospitals and constant doctor visits, as well as worrying about friends who I know are very ill.

My thoughts are with you all. Thank you for sharing.
1toughcookie 1toughcookie
1 Response Jul 11, 2010

I understand a few of the difficulties with TSC because my four year old neice was diagnosed with the disorder before she was a year old. She started having severe seizures when she was about six months old, but no one knew what was wrong with her. One of the ER doctors tried blaming my sister-in-law for the seizures, saying that it was Shaken Baby Syndrome, but later someone realized that her brain scans weren't showing blood pooling up, they were showing strange masses in her brain.<br />
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Several types of meds and seizures later, my neice is doing better. Her mental capacity right now is about the same as my one and a half year old daughter because some of the meds she was on and her seizures were preventing her from learning properly. She has the white patches of skin often associated with TSC, that her original doctor wanted to say was some type of dermatitis (not sure if I spelled that right). That same doctor said she was perfectly normal when she wasn't talking or acting like a normal child should.<br />
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About a month ago they put her on a Rapamycin trial and her seizure activity has dropped 90% and she's starting to do things she never would do before. She's starting to talk and do things on her own. She'll steal stuff out of the fridge and leave one of her toys behind in its place. :)<br />
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TSC can be devastating, but I think that if we push through it and help others understand this rare disability, we can beat it. Don't let it get you down. :) Show TSC who's boss! I hope that you can finally get some peace from all your troubles and the doctors visits.