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The Story of Rebecca S.

First, I would like to say that I am more than willing to answer any questions anyone might have. Second, as all of us who are in this group get better acquainted I will send my phone number in individual emails in case someone wants to contact me, to chat, vent, or whatever.

To start I am 27, had a birthday Friday August 12th (2005). At the age of three doctors in Colorado found that I had a cist on the right side of my brain. My head was shaved and surgery was done to remove the cist. It was not cancer. Instead of getting better after surgery I became sicker. I stopped feeding myself, stopped talking, couldn't walk, and a lot of other things that typical three olds do. 

After many tests Dr. Wolf from Virginia diagnosed me with having Biotinidase Deficiency. I will contact him to see exactly what symptoms I had, so as not to give wrong information. However, it's my understanding that by the time I was diagnosed it already gave me nerve damage. I'm legally blind due to optic nerve damage. I, also, have nerve damage in my lower back and legs, I don't walk and am in a wheelchair. I take 10mg biotin twice a day, and have for as long as I can remember. 

My hearing so far is more than fine, although that might be due to my eyesight being bad. My sense of touch is also more out there I guess you could say - very sensitive fingertips. I pretty much eat whatever, minus things I just don't like to eat. Chocolate is my favorite, along with cucumbers and other raw veggies. And no I don't eat chocolate all the time, just when I crave it. 

However, nothing has stopped me from having a life. In fact, I am a mother of two children. My son, Timmy, was 9lbs/9oz and 22inches long at birth and he's now 7-years-old. Timmy has a different birth defect. Then there's my daughter, Rachael, who was 7lbs/8oz and 20 inches long at birth and she's now 17-months-old. Rachael is a happy, healthy baby with no problems. With me being mom they are both carriers. Neither have BTD. 

I had a couple of Urinary infections and a bout of dehydration with both pregnancies. I was treated with IV fluid both times, and released from the hospital. Both children were C-sections, my son due to being 11 days overdue and my cervix not dilating, and my daughter because she was my little breech baby. I am proof that someone with Biotinidase can have a pretty normal life. 

Any other questions that I haven't answered yet, please feel free to ask. Also if everyone could email me letting me know what the best time for a chat is maybe we can get something set up.

Give your kids hugs and kisses no matter what...
Hugs to all!



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