Genetic Testing Results!!!!

There has been a lot going on over the past several weeks. And I should have updated the blog sooner, but you know how things go. You get busy and end up neglecting things you shouldn't have. For me, I got busy making Christmas gifts. 90% of the gifts we are giving this year are hand made! It's been time consuming, which is why I sadly neglected this blog. Hopefully this post helps make up for it.


The big news is that we have gotten back the results of Lynk's genetic testing! Short story is that he does have a mutation of the ABCA4 gene. This is the gene that is associated with Stargardt's. But that doesn't mean we are done with genetic testing, or that Lynk now officially has Stargardt's.

I had to send Lynk's genetic testing results to Dr. Jain's office at Emory in Atlanta. Dr. Jain is the ophthalmologist who specializes in inherited retinal diseases. Once Dr. Jain is able to review the results, he will contact us, either to let us know he's made a diagnoses, or because he may need to see Lynk again. It could be a while before Dr. Jain is able to review the results, he's a very busy doctor. We will patiently wait and see what happens.

As far as more genetic testing goes, Lynk's tests showed that he has 2 mutations in the ABCA4 gene. The chart above is helpful in understanding how genetics works. For Lynk to have 2 mutations, it means the he received a mutated gene from both Tyson and I. Tyson and I both have one recessive gene (the recessive gene in this case is the mutated ABCA4 gene, the pink part of the chart above) that we passed on to Lynk. He ended up with two recessive genes, meaning he is affected with Stargardt's (though we can't say that for sure until his eye specialist makes that determination).

The genetic tests don't show if the mutations are on the same or opposite sides of the gene, though. In order to figure out where exactly the mutations are occurring, Dr. Krishnamurthy (the geneticist) wants to do genetic testing on both Tyson and I to see where the mutation is on our genes. From what I understood when I spoke with Dr. Krishnamurthy, it's important to figure out where on the gene the mutations are occurring because it can possibly point to how severe the Stargardt's may be.

We are also having Myck tested for the ABCA4 mutation. There is a 25% chance that Myck also has two recessive genes, a 50% chance he's only a carrier (that he only inherited one recessive gene, and not both) and there is a 25% chance that he inherited two healthy ABCA4 genes. But since Myck is already in glasses, we need to see if it's because he has Stargardt's as well or not. Myck and I have both gotten insurance approval to see Dr. Krishnamurthy. Her office is preparing the necessary paperwork to send to the genetics lab to see if insurance will cover genetic testing for Myck and I. We are still waiting to see if Tyson will get insurance approval for genetic testing.

When we took Lynk in for Genetic testing back in October, they drew blood from both Tyson and I, and hopefully the lab still has that blood on file. If they do, then they should be able to test it. If not, then once we are (hopefully) approved for genetic testing, the lab will then send us oral rinse test kits (they'll send one anyways for Myck since they didn't take any blood from him). Basically, the test kit is where you spit in a tube, then mail the spit back to the lab. So we will wait to see where this round of genetic testing goes.

As far as further appointments, the only one we have on the schedule now is for Lynk to see Dr. Primo, the low vision specialist, at Emory on January 11th. Since his appointment is at 8:00 am, we will go up to Atlanta the night before. I'm kind of nervous, because Tyson will be out of town for work, so I'll have to make the drive to and through Atlanta by myself. Atlanta has absolutely terrible traffic. That's the only reason I don't like Atlanta. You never know how long it will take to get somewhere because traffic could make a 2 mile trip take an hour. It's truly ridiculous. And there are sections where the highway has 8 lanes in one direction, 8 lanes in the other. I can guarantee you it's not fun driving in 8 lanes of traffic. I'm pretty good with 4-5 lanes, but once you hit 6+ lanes of traffic, I get nervous.

Atlanta traffic is no joke.

Please either leave a comment, or contact me if you have any questions about any of the genetic stuff. There's more that I could have included (like how they did mitochondrial testing as well, and the results of those) but it's honestly just too much to put all in one post. Stay tuned for the next post, where I'll discuss Lynk's visit with the Ear, Nose, Throat specialist and the newest school accommodations!