biotinidase

When Ellie was one and a half weeks old,
the week that Kent was gone to Utah,
the week that my hormones were completely haywire,
the week that I cried probably five or six times a day,
I got a very frightening letter from the Texas State Health Department.

It simply stated that Ellie's newborn blood screens had come back with an abnormal result for her biotinidase levels. If I hadn't been contacted by my pediatrician already, I was to call the number listed immediately.
And then it ended by saying the newborn blood screens are done to detect and prevent mental retardation and other serious genetic problems.

I had not been contacted by my pediatrician.   I had no idea what biotinidase was, and I remember looking at my sweet newborn and wondering what could possibly be wrong with her and what was going to happen?

I called the number and oh so thankfully someone answered and she started to tell me about the necessary bloodwork that needed to be done,
and because maybe she was inspired, or maybe just because she's had more than one of these kind of phone calls,
she gave me a little bit of information about biotinidase deficiency.

Biotin is a vitamin.  Most people's bodies produce it and process it in quantities more than sufficient for their needs.
But some people lack the enzyme that processes it--biotinidase.

Ellie is one of those people.

The treatment is easy, though.  I simply give Ellie a liquid vitamin supplement every single day.
Her version of the deficiency is very, very mild, and we'll be taking her to a metabolic geneticist in a few weeks.  We'll probably take her back every year or so to have her levels checked because the chance is good (as I understand) that she'll outgrow it.
If not,
all she needs is to take a vitamin every day.  And that's it.

Without the vitamin, this deficiency causes some serious and scary stuff--seizures, hearing and vision loss, developmental delays; the list goes on.
But with the vitamin, there are no problems, no side effects.
She is and will be completely normal.

Oh how grateful I am for science, for technology, for medicine.   My little girl needed that newborn blood screen, and I can't even think about what would have happened if we hadn't found out.