I feel like we might actually be getting somewhere. There are several things in the works and I feel like we are at least doing something, not just sitting around waiting to see what will happen. Aside from Mayo, our pediatric Neurologist has been working with a couple of clinics to get some tests done ahead of time. A couple of our doctors have mentioned different diseases that fit William's symptoms: RPGR psuedo-Usher and Infantile Neuroaxonal Dystrophy.
We have wanted to test for these for quite some time, but there are issues. There are only 5 labs that test for RPGR, all oversees (and only one is English-speaking). The issue here is that one of our doctors has tried sending labs oversees before and never gotten a response. They were looking at sending us to Washington, D.C. to the National Eye Institute to run a research lab, but we can only go when the NEI is researching that particular disease, which could be in 5 years, who knows? Also, they don't accept outside blood draws, but have to draw the lab there.
INAD is a rare disease and not a lot of labs run the test for it either. There is a rare disease clinic at Oregon University. We thought we were going to have to go there for the draw as well, but it looks like everything is working out nicely. Dr. Norman has made contact with both labs, gotten specific instructions for drawing and sending, and we will go to her office on Monday to draw both labs. RPGR has a 6 week turn around time and INAD has a 3 week turn around time. I can wait for the results, I'll just be glad to have the tests in the works. What would be really great is if we could get both results back before we head to Mayo. We have many reasons to hope that both tests come back negative, but if either test is positive it will make the trip to Mayo unnecessary.
RPGR generally leaves patients completely blind within 10-12 years after their retina begins deterioration. INAD patients continue to get worse and have a life span of 5-10 years. Of course, we are still praying that both diseases come back negative and we need to look for a mitochondrial issue.
I have been wrestling with my own conscience, fighting fear and worry, and generally stressing out. But I have also been crying out to God for His mercy and grace in our lives. It is almost a daily struggle, but I am finally able to rest and feel at peace. I know that whatever happens, God is in control. He loves my little boy and has a purpose for his life because He created him. In fact, He knew William and his purpose and what He intended for him before He even created the world. And I know that I can trust Him. He WILL see us through, whatever happens. I am thankful that He blessed us with the sweet, precious gift of this little boy and I am thankful for each day we are given with him. I know that every second is a special gift of grace, love, and mercy, not to be taken for granted. While I wish that William did not have to go through these things, I pray that through all of this, God will get the glory due to Him. May His name be praised forevermore!
"According as He hath chosen us in Him before the foundation of the world, that we should be holy and without blame before Him in love." Ephesians 1:4