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The Story of Haley

My daughter, Haley, is, at the time of this writing, 4 years old. She was born in Alaska and was diagnosed with biotinidase through a newborn screening.

Haley has never had any severe symptoms other than problems with seborrhoeic dermatitis which she continues to get from time to time in small patches on the top of her head and behind her ears. When she was still a newborn, she had trouble with dead skin building up on the bottoms of her feet as well. This, however, didn't last long. I have never been completely sure that these things were related to the biotinidase but just assumed they were. She also has extremely fine/thin hair. So fine that if you hold one strand up, you have to strain to see it. This may or may not be related to the deficiency however.

When we got the call that they newborn screening came back positive for the disorder, I was asked to bring Haley in for blood and urine tests. All of which came back positive. At that particular time, we were in the process of moving from Alaska to Missouri and therefore had to seek actual treatment after we got to our new location. The doctors (military clinic) were absolutely clueless about what biotinidase was and therefore had to do a lot of research. They did another blood test to confirm and it came back that Haley is 33% deficient. The rest of us were tested as well, myself, my husband and Haley's older sister. We all came back negative.

Once the doctor got the information he needed, he immediately put Haley on 5mg of biotin per day. At that time, Haley was a month old. I was grateful to hear that the base pharmacy was willing to order the biotin so we could get it as a prescription. However, little did I know that this was going to be a nightmare as the pharmacy has played many games with us saying that biotin is not available, hard to order, or the have continuous delays in shipments. I have called Meribin and they have talked to the pharmacy in the past and set them straight. The pharmacy just doesn't see Haley's need for the biotin as important because she is the only one that requires it. Most of the staff in that pharmacy don't even know what biotin is or how to pronounce it. Doesn't give me much confidence so I am always scrutinizing every move they make.

Haley is now taking 10mg a day. I am unsure if she needed the increase in dosage or not. I really am not 100% confident in the doctors' opinions here in this clinic but am unfortunately stuck with them as I cannot afford outside care. We will be moving again soon, however, and I am hoping to find a better team of doctors where we are going.

All in all, Haley is very healthy. You would never know she has any sort of deficiency what-so-ever. She takes her biotin everyday with no problem. I just mix the powder into a spoonful of applesauce. My only problems have been with the medical personnel. Most of the doctors I have dealt with in the clinic we currently go to, have not shown any interest in the deficiency. They don't know anything about it, refuse to do any real research to learn about it and therefore just write it off as nothing to be concerned about. I would love for biotinidase deficiency to become more widely known and doctors in states such as Missouri that don't normally deal with the deficiency to learn about it regardless. Nothing is more frustrating than to seek help from a doctor and they know absolutely nothing.

I am quite thankful, however, that our problems have been fairly minimal compared to others that have dealt with this deficiency. We have not had any serious symptoms and the diagnosis was very quick. We were just lucky that Haley was born in a state that actually did screen for biotinidase deficiency. If she were born here in Missouri, things would have been a completely different story.

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.

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