I never thought this day would come. We are not calling it a diagnosis but just saying we finally got an answer. Leah had new genetic testing done back in January which were sent to The University of Chicago. The test results show that she has an abnormality in her GRIN2A gene. Among other things, this gene controls the glutamate pathway. Glutamate is a key amino acid in the production of brain cells. Dr. Filloux explained that her body is unable to properly process glutamate.
With this discovery, Leah will now be an experimental case. She is experimental because she is one of only three reported cases similar to hers. And hers is the only one with these specific symptoms. I can't even wrap my brain around this information, my baby is one in billions. Unbelievable!!!!
So, Chad and I will be getting our blood drawn and sent to Chicago to see if we are carriers. The University of Chicago are covering all costs of these tests, it can cost 20,000 to run these tests. They are curious to see if we are carriers of this gene in hopes to learn more about it.
Dr. Filloux and Dr. Longo (Genetic/metabolic doctor) have come up with an experimental approach that they hope will help Leah with her glutamate pathway. We will be giving her a small dose of Dextromethorphan three times a day. This drug is commonly found in cough medicine of all places. It is a glutamate receptor blocker. What they are hoping is that this will allow her brain cells to better process glutamate. We are starting out at a low dose and slowly increasing. Since there are no other patients like this we don't know what the outcome will be but it feels good to at least have a plan.
Here we go! Cross our fingers!!! I can't believe this is happening!!!