Kenton's Eye Update

I realized that I have not updated my blog about Kenton's eyes. In November we went to Portland to the OHSU hospital where Kenton was able to see a specialist and have a ERG (electro-retinal graph) done. OHSU was so big that it had a gondola! My dad, mom, and sister came with us. I wanted my dad there for the eye lingo, my mom for support, and sister to help play with Sophia. Anyway, it was a long day, but Kenton was a trooper. When we first got there Dr. Pennisi looked in his eyes for any discoloration and the nurse dilated his eyes and put numbing medicine on his feet to get ready for the IV. We waited about an hour (and I tried very hard to stay calm) and then they called us back. We then sat in a pitch black dark room with Kenton for 30 minutes to let his eyes rest. It was so dark that you couldn't see ANYTHING. The first 15 minutes he sat on my lap and we sang and bounced and the last 15 minutes he fell asleep. When our 30 minutes was up, the anaesthesiologist had us lay him on the table. She explained that when she gives him the medicine to fall asleep it will only take 3-5 seconds before he goes out. She said that was normal and not to be startled. Well, Mr. Kenton took about 2o seconds. He kept trying to sit up and fight it. After he went out, he was so still, which was weird to see. We left and they started the procedure. We met with the genetic specialist. She asked us about our family history in depth. The ERG took about an hour. We were there when Kenton woke back up. We had to wait a bit until he was a little more with it to feed him a bottle (he hadn't eaten since the night before). At this point I was anxious for the results. We were called back into the office and Dr. Pennisi and the genetic specialist explained the results:

Kenton has idiopathic infantile nystagmus. Dr. Pennisi said that this type is a milder type of nystagmus and is a genetic type. He said that Kenton's retina's look healthy (phew!). He saw NO NO discoloration, NO degeneration, or retinal detachment (yay!). He said most likely his eyes will improve or stay the same, but not get worse. There is no way of knowing if he'll need glasses until he gets a little older. His eyes do still move back and forth but not nearly as much as they did a few months ago. He told us to watch for head tilting because sometimes people with nystagmus do that to compensate for it. We asked if there was a specific gene linked to nystagmus and they said that there was not at this point.

A few days after his appointment, the genetic specialist called us. She said that after we left, they did more research and felt that there could be a specific gene linked to nystagmus. She wanted to know if she could use Kenton in a study (they already took his blood, so she could use that). Usually a research study costs thousands of dollars, but she said she could do it for $350. I thought that it was weird that we had to pay, but I know there is a lot of people and time that put a lot of work into such studies. How could we say no if it could possibly help Kenton down the road and other nystagmus patients? There was no guarantee of any new information being found, but we were willing to risk it.

A few days ago, the genetic specialist called and said they found a specific gene linked to nystagmus! CAN YOU BELIEVE IT? It is the FRMD7 gene. Every one has the gene, but for those with nystagmus, the gene has a mutation. There is nothing that changes for Kenton right now. The gene cannot be removed, but having this new research finding can possibly help in the future. Sophia can choose to be tested for this gene when she is 18years old to see if she is a carrier. I think that it's pretty neat that because of Kenton, it inspired these doctors to look more closely at nystagmus and that Kenton was a part of new findings. His eyes are not perfect, but they are healthy and I'm grateful for that!