I'm not sure if anyone remembers or not but I asked in the forums several days ago about pink/orange urine in diapers. My son has been having these in every diaper for almost two weeks now. Such copious amounts of uric acid in six week-old are highly suspicious of a metabolic disorder. Thus, we have an appointment at the hospital on Tuesday where we will be drawing blood to have a genetic test done to see if he has an inborn error of metabolism.
If he does - the disease is the worst disease I could ever imagine a baby being diagnosed with - it is called Lesch-Nyhan. He would never sit up, never walk, maybe never talk, have uncontrolled writhing and grimacing - and the worst of all, develop the hallmark sign of the disease - self-abusive behavior. They can bite their fingers, hit, spit and vomit on themselves and caregivers. These little boys have to be restrained all their lives which oddly, is their only source of freedom. Many boys request the restraints because the self-abuse is uncontrollable and terrifies them. Most have their teeth extracted to stop the biting and reduce the stress associated with it.
Here is a site about it and some pictures of the poor little boys with the disease:
http://www.lndinfo.org/Basics/faq.html
I'm not sure if I believe in God - but I'm praying. Please pray too or send positive thoughts our way that this test is negative. At this point, ANY other explanation would better than Lesch-Nyhan although there really aren't any other explanations for the uric acid. On top of it all, I have multiple sclerosis - so who knows if in the next 10 years if I'll be able to care for such a special needs child.
My husband and I tried so long to become pregnant. I tried so hard to do everything right during pregnancy. It just seems unfair. We were so looking forward to watching our little one grow and having at least one more baby in the next two years. But now, the future seems so scary. If he has this disease, I could be a carrier of the gene - which would mean future pregnancies would be at risk.
Again, please send us positive thoughts. I just don't know what to do.
:
If he does - the disease is the worst disease I could ever imagine a baby being diagnosed with - it is called Lesch-Nyhan. He would never sit up, never walk, maybe never talk, have uncontrolled writhing and grimacing - and the worst of all, develop the hallmark sign of the disease - self-abusive behavior. They can bite their fingers, hit, spit and vomit on themselves and caregivers. These little boys have to be restrained all their lives which oddly, is their only source of freedom. Many boys request the restraints because the self-abuse is uncontrollable and terrifies them. Most have their teeth extracted to stop the biting and reduce the stress associated with it.
Here is a site about it and some pictures of the poor little boys with the disease:
http://www.lndinfo.org/Basics/faq.html
I'm not sure if I believe in God - but I'm praying. Please pray too or send positive thoughts our way that this test is negative. At this point, ANY other explanation would better than Lesch-Nyhan although there really aren't any other explanations for the uric acid. On top of it all, I have multiple sclerosis - so who knows if in the next 10 years if I'll be able to care for such a special needs child.
My husband and I tried so long to become pregnant. I tried so hard to do everything right during pregnancy. It just seems unfair. We were so looking forward to watching our little one grow and having at least one more baby in the next two years. But now, the future seems so scary. If he has this disease, I could be a carrier of the gene - which would mean future pregnancies would be at risk.
Again, please send us positive thoughts. I just don't know what to do.
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