Biotinidase Deficiency

Biotinidase Defiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin. Low biotinidase activity keeps carboxylases from using biotin. The body collects harmful matter when carboxylases can't break down nutrients in the right way. Children with BIOT need extra biotin, or health problems occur. 1 in 60,000 newborns get it. That's what Isaac has. His newborn screening came back abnormal so they retested him at his two week appointment. Which was AWEFUL. They tried to draw blood from his left arm but they knocked the needle out. Then, they tried drawing blood from his right hand but didn't get enough blood. THEN then pricked his heel to get the rest of what they needed. Poor Isaac screamed his head off for an entire hour and I cried right along with him. I just got off the phone with his pediatrician who explained the condition and advised me not to google it. They feel confident they caught it early enough that there should be no problems. The good news is that Isaac's level is not 0 and they are hoping that with time he may produce Biotin on his own. We have to recheck at 6 and 9 months. The plan... every day Isaac needs to take the vitamin Biotin... crushed and put in an ounce of pumped milk. Not too bad. Im so grateful for modern medicine and grateful that this is as minimal as it is. on a happier note... House update... is coming along!!