Today, Chris and I had the follow-up meeting with the genetics doctor to review the results of all the bloodwork that was taken when Bex was in the hospital. The bloodwork was taken to determine if they could find an underlying genetic disorder that is the cause of the infantile spasms. The good news is that the initial genetic screening done came back negative. To be honest, I am not sure all the disorders that they were looking for and ruled out, but the doctor mentioned that some of the disorders ruled out were "pretty heavy duty."
So what's next for Bex? We have our follow-up appointment with the neurologist on August 12th. At that time, she will have blood drawn for an Epilepsy Panel. This test will look for genetic mutations that are typically associated with epilepsy and other seizure disorders. Those results will take a few months to get back.
Chris and I are learning that when it comes to meetings with a genetics doctor, you are never really "out of the woods" and it is a long, slow process. Since there are thousands of rare genetic disorders, there is no way to test for everything at once. Instead, it is a slow process of ruling out disorders and also watching her develop to see if there are any additional clues that could help them narrow down the disorders to make a diagnosis. We are typically the type of people that want answers, but when it comes to all these genetic tests, we actually don't want them to find an answer about what has caused her to experience infantile spasms.
After every doctor's appointment that we have, Chris and I always discuss what the doctor said and then also figure out a new game plan going forward because looking at the big picture or thinking too long term can be overwhelming at times. Therefore, for right now, our focus continues to be finishing up the ACTH without any relapse in spasms. We are also looking forward to the end of ACTH side effects, so we get our Bex back and focus our energy on helping her make progress in physical therapy. We both know there are still a lot of unknowns ahead of us, but we are truly thankful that we walked out of that appointment today without an answer about what caused her infantile spasms.