Timing is everything

Today, Sam had his appointment with the Ophthalmologist.  It was weird how this appointment came to be.

About 3 weeks ago, Dr. Fullmer's secretary called me to say that Dr. Fullmer wanted to see Sam.  She called at a really busy time and I was sort of caught off guard by it all but then thought I had just heard her wrong and went ahead and scheduled the appointment for him since it has been over a year anyways since we saw him last and Sam's eyes have been having more issues with the vision loss.   I still didn't recall ever being on a 'schedule' with ophthalmology like we are with Oncology and GI as far as quarterly visits go.

So, today we go in and every minute was a surprise!

We discovered a couple of years ago, during some mitochondrial testing that the kids have a genetic defect called LHON.  It stands for Leibers Hereditary Optic Neuropathy.  The gene causes total blindness.  Blurred vision begins and within 2 weeks, the vision is completely gone, never to return.  Ever.  It's pretty serious.  The Neurologist said that there are two LHON genes.  If a person has both genes, then it is almost certain they will go blind by age 20.  With one gene, researchers aren't sure if blindness is certain.

It was after we found this gene, that we met with Dr. Fullmer to  make sure that the kids had healthy optic nerves.

Today, he said, "Thank you for coming in!  I have good news.  They just began gene therapy on LHON.  I need to know what gene your kids have because if it is the one they are doing therapy on, your kids will be eligible!"

I almost fell out of my chair!

I have a pretty good idea what disease my boys are going to end up with.  I have it narrowed down to two.  One of them has the LHON gene as part of the disease which totally ties in the clinical mito stuff for us! There is a chance I'm wrong of course but this news seemed very significant.  He said, "I find it so strange that the research and treatment for LHON's has totally exploded in the past 6 months.  Seems so out of the blue."

As he went on with his exam, he found a scar on Sam's retina.  Sam had inflammed eyes about 3 months ago and it lasted for about 4 weeks.  I didn't take him in because there was no drainage or discharge.  He is afraid that he had Uveitis, an autoimmune condition that scarred his retina. After he talked about the condition, I believe he is right, especially considering Sam has been really neutropenic this year and that was his concern as well.  He was so nice, he assured me that no matter how minor I think eye issues might be in the kids, he wants me to check in with him.

Before we left, he had his nurse take some pictures of Sam's retina.  The pictures made the scar look more like some odd pigmentation.  We will just keep track of these changes.  They are definitely new since last year so it's interesting.

I feel very confident that we are in good hands with this doctor.  He is so good to research and be part of our team. I really like him.  Maybe we will never need gene therapy for LHON.  Maybe it was all a coincidence but regardless, I know it was another instance that God was letting me know He's watching our back.



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