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The Story of Rebecca

Rebecca has 4 older brothers and sisters. All of whom are healthy. My husband and I are healthy, always have been. So we had no reason to suspect that we would have passed on to her a defective gene for biotinidase. Indeed, when she was born, she looked perfectly healthy. She was over 8 lbs, had a high APGAR score, she even had a head full of hair. We thought she was perfect in everyway.

As the weeks went on she developed symptoms of the disorder. Unfortunately, I didn't recognize them for what they were. I noticed her fingernails weren't growing, but I didn't realize that meant anything. Her hair started to fall out, but many babies lose the hair they were born with, so I didn't worry. She slept a lot, but she was still very little. She had a rash in the folds of her skin. I thought it was because she was so chubby. She made a strange wheezing noise when she ate. Again I didn't realize it meant anything.

I really started to suspect that something wasn't right when she was about 6 weeks of age. She continued to sleep all day. She took no interest in her surroundings. She would wake to eat, stare into space for a few minutes, then go back to sleep. If you tried to play with her, she would just turn her head and close her eyes. I started to worry that maybe she was autistic or that her brain wasn't developing normally. I knew that most babies smiled by the time they were 8 weeks old. I figured I would wait until her 8 week checkup with her pediatrician, then I would voice my concerns.

She wound up in the emergency room before that 8 week checkup. Sometime around 7 weeks, she began having seizures. My husband and I didn't know that was what was happening to her. I had never seen a seizure before. My mother-in-law told us they were seizures. So that day we took her to the ER at the local children's hospital. (A word of advice: if you think your child is having seizures, videotape them. I know that sounds awful, but you and the doctors will be glad you did. Otherwise you'll spend a lot of time in the ER waiting for your child to have another one, so the doctors can see it for themselves.)

So she was admitted to the hospital and given a battery of tests, all of which came back either negative or normal. 3 days later she was released with a prescription of Phenobarbital. The seizures returned again the next day. They were shorter in duration, but were becoming more frequent. The Phenobarbital was increased a few times, but it wasn't doing the trick. Finally she was readmitted back into the hospital, and another round of tests were performed.

The Neurologist who had been overseeing Rebecca's care called in geneticist. That day he recommended giving her 10mg of biotin a day while we waited for her blood test results to come back. It was difficult to find 10mg of biotin. I called all over town and finally found a place that sold biotin in 3mg capsules. Getting her to take it was hard though. Biotin doesn't dissolve, so when I added it to her bottle, it just stuck to the side. It took a few days, but I finally found a solution that appeared to work. A pharmacy mixed up a bottle with the biotin and some cherry suspension. (note-That's not a doctor recommended way of administering Biotin)

After just a day of Biotin treatment she was a different baby. She woke up. She no longer slept all day, she interacted with us, and in a couple of weeks, she began smiling. We were thrilled and amazed to finally find our real baby.

I consider ourselves both lucky and unlucky. We're lucky because Rebecca is alright now. The treatment for her disorder is easy, and she's suffered no lasting affects from not being diagnosed right away. She's unlucky because she had to suffer at all. I wish we would have known about comprehensive newborn screening. We should at least have been given the option of having our babies tested. I now tell every pregnant woman I know about genetic disorders and newborn screening. I don't want any parent to have to go through what we went through.

Katherine Trusty
Florida

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