Thursday, June 11, 2009

Crap.

Sorry for the lack of posts lately. I didn't realize that having two babies would be such a task. Laundry all the time, diapers non-stop, baths, car-seat buckling, mouths to feed...There is always something. I am glad to say that I am really enjoying it all and soaking in the time that I have with my two kiddos and Erin. Our lives have taken a step back in the relaxed direction moreso than any other time. It is nice. I am sure once I get into a routine again that it will pick up to where it left off pre-Julia.

This and last week were a rollercoaster of emotions for me and for my innermost circle. Last week I took Julia in twice to the hospital for a repeat newborn screening. They kept saying that the sample was getting ruined by the heat (it was in the 70's here, so not exactly hot) but I was sure getting the runaround and poor Julia kept getting pricked. Pricks.

Anywho...her Pediatrician called us on Monday to let us know that she could potentially have a "newborn disease" that needed to be further investigated at Children's Hospital in Omaha. I sobbed my way through the phone call and through the night holding her so tightly to my chest and crying my tears all over her little chubby cheeks. The next morning we met with a DR. that specializes in metabolic diseases. He said that on her first screening that it showed up that she had "partial biotinidase deficiency" and that he wanted to do a veinal blood draw to confirm.

Stop! What? She has what? Biontinidase Deficiency is a disease where a person lacks biotin. Me and you have biotin by eating certain foods that are rich in biotin and our bodies recycle it over and over again. Julia's body does not recycle the biotin. It just spits it out and does not make it as readily as you and I do.

Well, what does that mean? What happens to you if you don't have Biotin in your body?

There are two types of deficiencies:

Partial Biotinidase Deficiency and Profound Biotinidase Deficiency

Partial Deficiency means that the side effects could be hair loss and skin rashes/ezcema. These are very easily resolved with some biotin.

Profound Deficiency means that some people have seziures, hearing loss, brain delays and other neurological issues. These can also be resolved by biotin.

Well, how do you treat this?

To treat a biotinidase deficiency (either partial or profound) requires a daily dosage of Biotin, which is a vitamin, natural and non-toxic. If you are taking Biotin on a daily basis, this prevents the symptoms/side effects from occuring. The catch: You will take Biotin for LIFE. Yes, imagine taking a vitamin every day for life.

So what does Julia have? What did you find out?

We found out today that Julia has Partial Biotinidase Deficiency. If we were to allow this to go untreated without the Biotin, the worst that could happen to her would be hair loss and skin rashes. We obviously aren't going leave it untreated. Yeah, it completely sucks that she has to be on a vitamin for life but it is a small price to pay. She will live a healthy life even while taking this. She is going to have luscious hair and probably the best skin on the block.

How did she get this?

Unfortunately, this is the one thing that I will lay claim to. Through Erin and my genes, somehow and somewhere, we matched up to pass this onto her. There are 1 in 6,000 kids diagnosed with this disease in Nebraska each year. I asked about Henry and about us and he said that if we haven't exhibited side effects, we don't have a deficiency. Erin and I have tried going back to think of any family members that could have had this and can't pinpoint anyone.

So that is the scoop. I was initally devestated to hear that something might be wrong with Julia but the Dr. said of all kinds of newborn diseases, this is really the best one to have if you have to have one. Easily treatable and mangageable and your child can live a healthy life. Julia started her biotin tonight. I cried when I gave it to her. I have to keep reminding myself that it is just a vitamin and not "medicine". It will get better when she gets older and starts eating solids. I can mix it with her food and then after that, she can just pop a yummy vitamin in the mornings to get her day started right.

Other than this little hiccup, Julia is doing great. She is an awesome baby. She sleeps really well, eating about every 3 1/2 hours. I get sleep but never enough. In fact, I keep asking myself why I am sitting here at 10:30 writing this blog post while everyone else is snug in their nest. Ahh..a mother's job is never done. Blogging, laundry and seat buckling. Gotta love it.

3 tidbits of your thoughts:

silver.work said...

She'll be fine - she'll be fine. I've taken biotin for years and I can assure you that Julia will have the healthiest hair and nails of anyone in preschool.

xo - lynn

Crystal said...

I'm glad to hear that it isn't "too" serious with Julia! I wish you would have said something the other day! I hope you're doing all right and getting some rest when you can! If there is anything I can do to help you out, just let me know! I'm not too far away!

Linda, Mom-in-law said...

Kaitlyn,Hi Dear, I always love your blog (even though this is my first written comment), pictures, videos, and chit chat. My favorite entry is Thanksgivings, Wed. Nov, 26, 2008. My favorite of your Etsy items are the capes, too cute. Put my name in the hat for keychains. They are a favorite of mine too. Keep up the good work on your blog, it's always a pleasure. The little people at the table were so sweet. Love you lots, Linda