RH Negative factor

My son will be 2 in December....he seemed to be a healthly happy baby and for the most part he still is. He started to talk around 10 months old but when he started to walk around 13 months he pretty much just stopped talking. The doctor's in Illinois where we are from didn't seemed to concerned about it. However we just recently moved to Kentucky and they seem very worried about it. My son has a speech therapist and an occupational therapist. They say he has some sensory issues and they want him to be evaluated for Autism. He has seen a ped. neurologist who just recently ran some blood test and one test came back that said he has high amounts of protein in his urine and they want him to have another test done called a plasma amino acid blood test. My question is I have a RH negative blood disorder and my son does not.....I am curious if this developmental issue could have been caused due to my blood disorder? Is there something that could have happened while I was pregnant with him to cause this because during my pregnancy I had protein in my urine and had to do the 24 hour urine test cuz they were worried about preclampsia I was never diagnosed with it though.

[beanie83]

Also after doing some research about the amino acids and I came across something called PKU. The symptoms of PKU sound almost just like everything my son does that the therapist are concerned about.

[eureka254]

If your son was delivered at a hospital, newborn screening usually includes testing for PKU, and it most likely would have been identified at birth if your son was affected.  I hope your son's new doctors will help you find answers, and best of luck on your move to KY.  

[beanie83]

I had done the research on PKU as well because it does sound just like my son but he was screened for that birth and that test can back fine, they seem to think that he has some other type of metabolic disorder I just cant find one that sounds like him as much as PKU does.

[eureka254]

There are literally hundreds (maybe even thousands) of different metabolic disorders, the large majority of which are pretty rare and not usually tested for during newborn screening like PKU is.  Amino acid testing is a good place to start if a metabolic condition is suspected; making a diagnosis will be an important first step.  If a metabolic condition is found, hopefully it will be one that can be managed well and easily corrected.  

[beanie83]

I finally got my son's blood and urine test back and the doctor said that he a mild elevated level of Tyrosine in his urine. I have done some research and I found a disorder called Tyrosinemia. There are 2 types of this disorder and I am not going to lie type 1 scares the hell out of me, however the doctor did say that he can have an elevated level of that protein without it being Tyrosinemia. I am just curious if you know of any other disorders that deal with a elevated level of this Tyrosine that can cause a developmental delay.