more Karah updates...seriously?! More?!

Quick note-Dr Longo (geneticist) called me today with results of last weeks testing. They did a plasma carnitine test and a creatine test. He said if they came back negative we would never need to come in again (unless we wanted to in several years to see if she carries the gene for Benign Rolandic Epilepsy.) He called and told me it was positive. He was almost sure it would be negative because she looked fine to him but he said "what do I know?! I've only seen her once!" She has a creatine deficiency. Possibly GAMT. He wants to get her started on therapy ASAP so he is having her come in tomorrow for some more testing. They will need to test Alyssa too. He will be doing blood testing, urine study, DNA testing and we have to get another MRI done. He needs to do a magnetic resonance spectroscopy. He says this is a treatable disease but if not treated it would get worse as she gets older. He said if she wasn't treated she would have degeneration in her brain, the disease is progressive, the longer you wait the harder it is to control, she would eventually lose her coordination and skills. She will have a restricted diet including supplements of creatine, ornatine and another one I couldn't understand with his cute Italian accent. He said this treatment may help with the seizures and in a year or so on therapy we may be able to get another brain test done and see if she could go off her epilepsy meds (the damage may already be done though...) I was so close to not even making this "last" metabolic disorders dr appt but I guess I am glad we went! It's best to treat it early...as early as possible I guess! I will keep everyone posted! I will probably understand better tomorrow...I hope!