dna.gif header.gif
Check this box to open links in new windows

HOME What is BD? Family Center Related Sites Contact Us Email Forum Meet Families Stories BDSG Founder Webmaster Hearing Loss Screening for BD Treatment Menu Image Map


Site search 
Web search

powered by FreeFind



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!

Rebecca

 

The information contained in this website should not be used as a substitute for the medical care and advice of your doctor. There may be variations in treatment that your doctor may recommend based on individual facts and circumstances.

If you find problems with this site please contact our webmaster.
All rights reserved.