Thursday, January 26, 2012

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.

9 comments:

Teresa said...

I too am so happy she is doing well. Thanks heaven for modern medicine.
She is growing up so fast.
Hugs

Mariley Johnson said...

Sometimes we hear a lot about how medicine is the enemy these days, but Ellie's story makes me realize even more that medicine is inspired work.
Cute little dress she's wearing!

Mike and Alli said...

Wow, so grateful for medicine and technology. What a wonderful blessing for your little angel.

magunn said...

Ah ... I can't even imagine. Isn't it crazy that these tiny intricate bodies ever even work?

Thank goodness for vitamins. I'll keep you in my prayers!

Shannon b said...

Scary! But good to know there's an easy fix. I should pull out my nutrition textbooks and refresh my memory on biotin. :)

Lisa Brown said...

What a miracle that it is such a simple fix! I am often reminded how grateful I am for modern medicine :). Glad she will be fine!

Creole Wisdom said...

Grateful for modern medicine! Ellie is such a doll. I'm glad this has all worked out, stay strong mama :)

Becca and Ashton said...

Medicine is amazing. What a blessing. Oh and she is adorable by the way.

LadyDragonfly25 said...

Hello,

I have a 5 week old who has also been diagnosed with BIOT. I was wondering if you would take a few minutes to answer a question.

I see your daughter is doing great 2 years later. It's encouraging. :)

I was wondering how you went about administering her Biotin. My insurance won't cover the compounding at the pharmacy and I'm asking other parents of kids with BIOT what they found to be the most effective/easy way to give it to their children.

If you could email me at

Librarydragonfly@gmail.com

It would be much appreciated.


Thank you