Please help. I already posted in relation to my son who is now 20 months. We saw his nuero 2 days ago and he said my son is a "perfectly normal" child. Despite abnormal mri and ct scans, bloodwork showing abnormalities and many other health issues. What do I do now? In my heart of hearts having spent the last 6 month researching GA-1, as sad as this is for me to say, but I know this is what my son has. He has every symptom, clinical finding and medical history that all points exactly to this disorder. What do I do to help my child? Do you know anyone who can help( I am in Ireland) Many thanks
It sounds like your son has a lot going on. It may be possible that one genetic condition may account for the different features that you have described. Searching for a diagnosis is difficult and if found, a diagnosis can help provide information about management, what to expect for the future, and implications for other family members, too.
You mentioned that you were concerned about glutaric aciduria. This is a rare genetic condition that can run in the family and cause enzymes to not work properly. You may have already pursued this, but your son may benefit from a consultation with a medical geneticist. A medical geneticist will often perform a detailed exam that can guide the genetics tests ordered. You can find a medical geneticist through the American College of Medical Genetics website. Best wishes to you and your family.