Ok we were misinformed it wasnt cystic fibrosis that Liam was positive for at birth like we were lead to believe. His retest for it was neg :) What Liam had at birth was called Biotinidase deficiency. Its very rare. Only 1 of every 110,000 births.Biotinidase deficiency is an inherited metabolic disorder of biotin (vitamin B) recycling that leads to multiple carboxylase deficiencies. The mos...t common early symptoms include seizure activity of various types (myoclonic, grand mal, and focal or infantile spasms) and hypotonia. Other early symptoms include breathing problems (tachypnea, hyperventilation, stridor, apnea), skin rashes and alopecia. Later developmental delays, speech problems, ataxia, and vision and hearing problems may occur. Less frequent findings include feeding difficulties, vomiting/diarrhea, fungal infections, hepatomegaly and splenomegaly. This disorder is inherited in an autosomal recessive pattern. As an autosomal recessive disorder, the parents of a child with biotinidase deficiency are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, which results in biotinidase deficiency. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks hold true for each pregnancy. All siblings of infants diagnosed with biotinidase deficiency should be tested. Biotinidase is an essential enzyme that liberates biotin from proteins in foods for utilization by the body. It also enables the body to recycle biotin, which is necessary for proper functioning of carboxylase enzymes. Without biotinidase to release free biotin, the ability of the body to alter fats and to metabolize proteins and carbohydrates is impaired. Complications including metabolic acidosis, coma and death can occur unless supplements of biotin are provided.
The good news is that this is something that can be treated with meds. Yes if he is still positive then he will have to take them for the rest of his life. We will have to have Lanie tested for it because they say all simblings need to be tested because if one kid has it its possible another has it as well. He will also have to see a geneticist regularly. I feel better with this diagnosis than with cystic fibrosis. No Im not happy but it is what it is. Ive done some research and Im sure theres more to it than what I've read online. Childrens hospital is waiting on paperwork they need from UCSF before they can re-test Liam. Apparently we are about 2 days over due in retesting Liam but they didn't know about it and we didn't either. The doctor found all this out when he finnaly got ahold of the results of Liam newborn screaning test. Theyre going to talk to the surgeons and hopefully this test wont delay Liams surgery. Were hoping to keep things on track.
On a good note, Liam had some visitors tonight. His Tia, Uncle, Cousins, and Auntie Jolene came to visit It was a great visit and I got some pretty cool pics :)
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