Community› The Bump Message Boards› Special Needs
Special Needs
New Discussion

new to board - urine organic amino acid test results are slightly elevated...

Baby428Baby428 member
in Special Needs
They want DD to see a geneticist to discuss a metabolic disorder.  DD had tons of blood work done as well and that all came back normal.  I'm so confused.  Why didn't any of this stuff show up in her blood?  I'm trying not to worry but it is hard not to!  The geneticist can't even see her till DECEMBER.  Just wanted to know if anyone else has any information on this.  Thanks :)
Report Reply to Post

Re: new to board - urine organic amino acid test results are slightly elevated...

  • earthycrunchymamaearthycrunchymama

    I'm not surprised... I have mitochondrial myopathy (metabolic disease) and it took 15+ years for a diagnosis. a lot of metabolic stuff isn't blatantly obvious through blood and/or urine or "typical" tests. when I did have abnormal tests they ignored it because it wasn't what they were looking for and regular doctors could make no sense of it... plus in the 80s and 90s very little was known about metabolic diseases.

    you should look at Organic Acidemia  Assoc. (OAA)'s website.

    Genetics/Metabolics specialists often have months long waits. I had to wait about 2 years to see my specialist. too many patients, not enough specialists in this field. 

    Report Reply
  • Loading the player...
  • FalioleyFalioley member
    I'm sorry, that's so frustrating. I know that it really depends on whatever tests the doctor ordered at the time. When we were going through the dx rollercoaster, Dean had several rounds of bloodwork to test for different things. We finally got an answer when the geneticist ordered a *specific* test to check for Prader-Willi syndrome, and that was our answer. Hope you get some answers soon. 
    Report Reply
This discussion has been closed.
Choose Another Board
Search Boards
"
"