I've gotten a lot of phone calls from mothers & fathers that have children that are currently undiagnosed. I love hearing from all of you and if there is anyway that I can help I will be more than willing. But please know that you are not alone out there as I have received quite a few calls. Never give up! Keep searching and pushing the doctors for an answer! If any of you would like to talk to some of the other families just send me an email at firstname.lastname@example.org that gives a brief summary about your child and I will forward it on to any other family that also would like to be in contact with undiagnosed children. I've learned a lot from all of you and I think you can learn a lot from each other. Maybe someone even wants to start a blog for these families that lets everyone add their information.
Just today I spoke with a mother that has a child that has GA1. This is something that is tested in the newborn screening, but I don't think it is tested for in every state. She said that her son had unrelated problems after he was born and had to be in the hospital for a while. It was during this time when they had him on an IV that they noticed that even though they were feeding him everything correctly through an IV that something was still not right. They pricked his heel 3 times and ran the newborn screening 3 times and only 1 of the 3 tests showed up that he had GA1. GA1 is another metabolic disorder that has to do with breaking down amino acids. I just looked it up briefly online and it can also have symptoms similar to John's GAMT. One website where I found information was http://www.newbornscreening.info/Parents/organicaciddisorders/GA1.html. My suggestion would be to ask your doctor about all of the testing that was done on your child in the newborn screening and find out if there are any that you think are worth retesting. If there are any that sound similar to your child then it might be worth it to test again. Afterall it has probably been a while since the inital test was done. Lab tests can sometimes be inaccurate. And it might be worth it to repeat a test. Here is a link to a website and the very first question is "What does your State screen for" and if you keep scrolling down you will see there are lots and lots of tests that are run from this tiny blood sample. http://www.oaanews.org/newbornscreening.htm.
I've spoken to a few of you that have already taken your children off protein. I can totally understand that if you see an improvement that you would not want to put your child back on protein, but I also want to make sure that you know that you need to make sure you have a doctor and nutritionist that are willing to work with you on this. John has his levels tested every 2-3 months to make sure that he is still getting all the nutrition that he needs. If you doctor isn't listening to you when you say it works and that you want to keep him/her off protein, then I would suggest finding another one.
Best wishes to all of you! Thank you for contacting me and sharing your story.