My daughter Brooke is now 2 1/2 years old and has problems since birth. She came home on Propulsid and Zantac due to reflux. Our other 2 children had it as well so we thought it was the same thing...except the meds didn't work on her. She was a very mucusy baby and slept in her car seat until she was 4 months old because she would start choking on her mucus and we would have to suction her. From the beginning I knew there was something different. It wasn't the same as the other 2. She was always in pain and would scream non stop for 3 to 4 hours every night in the middle of the night. We had her on nutramigen and when we started her on solids she didn't react well.
They thought food allergies but all her test came back negative. They thought Cystic Fibrosis...that too came back negative. Then they diagnosed her with eosinaphilic gastroenteritis...put her on aterax for a year. Wrong diagnosis. Any type of cold would make her overly mucusy. She couldn't breathe and would vomit straight mucus and have Bronchial spasms her lungs always remained clear though. She became hypoglycemic and then started having seizures. For a year we tried to tell our Ped doc, the endroconolgist, and our GI doc that her balance was off. She was like a drunk person trying to walk. It was dismissed every time. She developed tremors in her hands...I thought it was her sugars getting low. At her 2 year check up my ped doc displayed concern of her balance being off and said she had tremors in her hands, she was also developmentally delayed.
She ordered an MRI it showed she's missing white matter in the occipital part of her brain. For 6 months she had also been developing white depigmented patches on her body that started out small and kept getting bigger. We went to our first Neuro doc at Children's Mercy Hospital in Kansas City. He never actually looked at Brookes MRI but based his opinion off of her radiologist report. When he came in to see us the first thing out of his mouth was "why are you here?" given her missing white matter and intention tremors and seizures he basically told us that neurologically Brooke was fine and to see a geneticist. To say the least I was not happy with him and neither was my Pediatrician. We went to KU Med center in Kansas for a second opinion. As a mother I thank God that I kept going for the sake of my daughter even though the decision of all the test she had to go through was heart wrenching and I repeatedly questioned myself "am I doing the right thing?" She had lost the ability to go up and down stairs due to loss of muscle tone and that's when I knew for sure this was something more. BUT she is so smart and she LOOKED so healthy it was incomprehensible for some people to believe there is actually something wrong with her. Before we went to KU for our second Neuro evaluation I started researching on my own and found out that vitiligo (white patches) was associated with B12 deficiency. That led me to Biotin. All of the symptoms in my health book for Biotin deficiency were prime symptoms Brooke was exhibiting, especially grabbing her tongue because it was sore. We thought it was her reflux. She also had ongoing cradle cap( as a hairdresser I found that very irritating and wondered why I could never get rid of it.) She never has lost any hair though. It is very thick and healthy looking. When we saw the 2nd Neuro doc I asked her about pernicious anemia and b12 deficiency and she didn't seem to think so...so Asked her about Biotin deficiency not knowing it was a genetic disorder. I told her Brooke had a lot of the symptoms and she said she would check for it with a couple of other things she had a hunch for. 2 weeks later we get the call...I was never more happy and relieved, but we had a hard time finding the free form Biotin to give her. After another night of seizures I went to the Web at 2:15 am and found Dr. Barry Wolfs web site. I emailed him asking if he knew where to get it...not knowing all that I know about him now and how valuable he has been to all of our children's lives he has saved. At 8:00 that next morning the phone rang and it was Dr. Wolf! I about fell out of bed! Thanks to him we were able to get the Biotin the next day. He got in touch with Our Neuro Doc and told her what all Brooke needed to be tested for. She has been on the Biotin 5 ml in am and 5 ml in PM. for the last 2 months and we have seen a remarkable difference. Her Biotin level was 0! Although she still has seizures and will always have her intention tremors her hearing is fine. We are still waiting on her vision test results.
I am so mad as a parent to know everything my daughter has gone through in the 2 short years of her life could have been prevented by a simple blood test and would have prevented the damage she now has. Coincidentally, I did at the age of 1 order a newborn screening kit from Baylor Medical Center (after reading about it in my Parents magazine) at that time they did NOT test for Biotinidase deficiency so it came back negative. I live in Missouri. We do not test for BD but if anyone can help me or tell me the steps I need to take in lobbying for it I would appreciate it. My Ped Doc said she would help also. I also want to make it mandatory for hospitals and ob Gyn's to give Info to new parents allowing them to have a decision for what the state test for or having access to a New born Screening test. More doctors that deal with children should become MORE AWARE of these disorders so they can hopefully make an early detection when a child hasn't been tested or better yet DO the test as a rule out.
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