Long day in Iowa City yesterday, with a Genetics appt in the morning and an eye appt in the afternoon. We were lucky that we had enough time to take a break in between and sit at a nearby park for lunch.
It had been two years since we saw genetics, and I was hopeful more research would be available by now. We were told Kiran’s specific gene misspelling was one of interest, but only one more study has come available in the last two years. I haven’t taken the time to sit down and read it yet, but it is a study published in 2019 with only one participant, a male from Korea. It may or may not be the same patient that is in the study published in 2017 with five participants, three of which have Kiran’s exact misspelling.
From what the doctors said, it doesn’t seem we have any new information to help us know what might be ahead for Kiran. With this new study, that means only 3 or 4 kids worldwide, besides Kiran, are known to have this genetic condition.
So here’s something exciting. The fellow asked if we would be open to having her write up a report on Kiran to be published, since he has a unique characteristic not reported by the others with this misspelling: the congenital heart defect. His dad and I agreed, so Kiran will officially be a part of this body of research (albeit small so far)…and what excites me most is some other family, likely in another country (since we know all three known kiddos are from countries not USA), might be able to sit down with their doctor in a year or two and have NEW INFORMATION AVAILABLE.
The doctors were pleased with Kiran’s developmental progress, and we will now see them in a year’s time.
The eye appointment was long. It always is with dilating drops and now the doctor always sends us to attempt to get good pictures of Kiran’s retina and optic nerve. Dr. felt everything looked good and was excited – and thinks Kiran will do well – with his upcoming eye gaze device trial. She was seeing good attention and tracking. The bummer news is she still isn’t pleased with how small his left pupil is, so we now have to do eye drops every day for another six months (as opposed to every other day these past six months).
Kiran was a trooper, as usual, but definitely wore out. All he wanted was to snuggle with mama when we got home last night, so snuggle we did. We have a couple more big appointment days coming up, too, and I am hoping all of our updates are as uneventful as this one!