This post is most likely the hardest one I've ever written and it has taken me a few weeks to gather my emotions. It all started very innocently with amazing hope for my son's future. You see, he was accepted into the x-linked juvenile retinoschisis gene therapy clinical trial. We went through great lengths to get there, including participating in the historical clinical trial in Portland, Oregon. We had to go there every six months for two years. We loved that.
The actual gene therapy trial required much more time in the doctor's office. We had to have an initial visit to get "accepted" in the trial. We knew this was just a formality since the historical clinical trial results led us to believe that he would have no problem getting accepted. He got accepted no problem in December, a very cold time in Boston! Once accepted, it was very difficult to schedule the initial visits needed to get the therapy and then follow up. With amazing hope and a positive outlook, we scheduled a very tight schedule so that he could travel to Boston and spend many days for the initial visits required for the treatment without missing too much of his senior year. I had to be away from work, but luckily, they were helping me work remotely.
We get there and day one went well. My son breezed through all of the grueling tests. These were the non dilated tests. Day two, they tested his eye pressure before the dilation. For the first time in his life, his eye pressure was high. Neither my son nor I could explain. He's never had bad eye pressure. I've got to give them credit, this group tested him a bunch of different ways and times. His pressure still showed way above normal. Then, they talked to us about what the problem is and how he no longer qualifies for the clinical trial. We were absolutely crushed... My son was literally days away from gene therapy. Now, we had to go home about a week early. We changed flights and got home.
We immediately scheduled an appointment with a really good glaucoma specialist. He explained that because of his extreme astigmatism, the iris needs to get laser surgery to relieve the pressure in the eye. We realize that the set back in Boston is a good thing. If my son weren't in this trial, we might not have realized this new issue existed and his optic nerve could've been damaged, leading to severe damage. So, he got the laser treatment in the really bad eye and will get laser treatment in the other eye in the next couple of weeks.
Our biggest hope is that he will be allowed to rejoin the clinical trial for gene therapy once this other issue is fixed. The doctor in Boston told us as he saw my tears forming that everything happens for a reason and that we should be thankful we found this new issue early. I am thankful.
Sometimes, though, it feels like we are constantly getting hit from every side and our time in Boston definitely fits that category. If you know me at all, you know that I don't give up until the end goal is met. The end goal is treatment for my family, that includes my son, my brothers, my cousin and the future children of my nieces. It also includes everyone who is living with a retinal degenerative disease, of any kind.
I have a couple of favorite parts of our trip to Boston that was supposed to deliver gene therapy. Number one: we learned how to ride the red line/green line. We don't have that kind of public transportation here in our town. If only my son can live in a big city like Boston, he won't ever need to drive and he'll be fine! Number two: as we were walking out of Mass Eye and Ear and I was in total disbelief and just about broke down from sadness, my son grabbed my arm and said, "No, we're not going there. This is just a thing and it will get fixed." He is now the grown up taking over for his own destiny and in case you haven't figured it out, his destiny is awesome!
3/23/2017 06:32:30 pm
This blog brought me to tears. Happy and sad tears for you both. I can only pray they will find a cure for all of our boys... my son has a hard time in school and it is always emotional for me. Thanks for sharing ..
11/28/2017 03:17:22 pm
Do not give up the fight. Our doctors in Philadelphia mentioned that they have a lot of hope for the gene therapy and he really hopes for a cure in the near future. Your son is a leader and helped lay the ground work for others and for that he should be applauded for his strength. Hopefully he gets back into the therapy or is able to benefit from the finding in the very near future.
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