I’m new to this site, and this disorder as well. My daughter-13-has many issues-medical and behavioral. One issue we’re working on right now is highly positive ANA and thyroid antibodies. She has serveral food/drug/envirnmental allergies, exzema, asthma, heart murmur, recently diagnosed with Asperger Syndrome and previously diagnosed with OCD and a mood disorder. I see, after studing a little bit on the internet, that PKU lists some symptoms that my daughter deals with. We questioned this before when she was younger, but it got swept aside with other diagnosis. I wonder now if we were right to begin with. Does anyone have advice for me about this- tests to get, ect. Thanks. nLisa
Hmm…well I’m not sure if those are symptoms of untreated PKU, but if you think it could be PKU then I would suggest going with your instinct. If she did have PKU, since she is 13 it would have to be a very VERY mild case. Because if it were a serious case of PKU and she wasn’t treated she would most likely be mentally retarded. If you still think it could be PKU then talk with her regular doctor and see if you could get them to perform the Newborn Screening test down. I know it’s silly seeing as it’s a test for newborns, but that is how PKU is detected. It is simply a prick in the heel (in her case since she is older it would most likely a finger prick…possibly venipuncture) and then some blood on a card. Then they would test to see how much Phenylalanine is in her blood and if the levels come back high then more testing might be needed to determine if she has PKU. If your regular family doctor doesn’t know where or how you could get this done then you could contact a local clinic that deals with PKU. If you go to http://www.macpad.org and into their links section then the link that says “Clinics” Then there is a list of clinics that treat PKU. You can contact one of them. I hope this helps you out! nBreanna 16 CPKU
I agree with Brea. I’ve never heard of some of the conditions that you mentioned and I know that some of them definitely aren’t because of untreated PKU. If she has black urine or a musky smell to her those are definitely signs of PKU. there are many diseases with similar symptoms so I wouldn’t get too agrivated over a different diagnosis. I would say get the test done to see if it’s PKU and if it comes back negative, there is nothing to worry about.
azwolf. nYou sound like you are in the boat I was a couple of months ago.. I have a four year old who is austic with behaviorial, medically problems and OCD. When her sister was born in may and diagniosis with CPKU. Our family doctor and Genetist decide to run a PKU test to see if it was “Em” problem or part of. The lab drew blood for her arm for a phenylalanine test. They did not do a prick test. Lucky for us, her levels were in the normal. I would insist on the test after all its your baby and you want the best for her. nGood Luck, nBrandi