As i said in my last post Sione' had to have his PKU test redone. However we found out today it is not the PKU that came back abnormal.
The results came back abnormal for Biotinidase Deficiency. Once again i had no clue what this was nor did his nurse since this is only the second case she has seen in the 3 years at the office (there are 1 in 60,000 babies diagnosed with BD). She wrote it down for me and i came home and looked it up.
What i found out is that if he does have this deficiency it can come with some serious side effects such as seizures, weak muscle tone, breathing problems, and delayed development. If it is left untreated the consequences can be great. Thankfully there is a treatment and when caught early most side effects can be helped or even stopped.
We wont know the results until Wednesday or possibly even Monday and i am a wreck. I know things could be so much worse. This is not a death sentence but it is heartbreaking none the less.
I dont think any mom wants her baby to be sick even with a cold much less an autosomal recessive metabolic disorder. It hurts my heart to think that this is something that i passed on to my baby (since parents have to be carriers). I just want my baby boy to be healthy and happy.
So if you could please keep my baby boy and our family in your prayers. I need strength right now to keep from crying non stop. I dont want to over react but between hormones and stress and this news i am finding it hard to keep it all together.
God has blessed us so much and i know he will not give us more than he knows we can handle.