Genetics Appointment!

Sorry it's taken me so long to write about Lynk's appointment with the geneticist. The past few days have been pretty crazy. And in that time, we've picked up the boy's Grammie from the airport, visited the geneticist, taken Myck to the ER for croup, had Lynk tested for allergies, and researched alternate ideas to help Lynk with writing at school. I feel like this is the first moment I've had to sit down and blog a bit!

Traffic getting out of Columbus
South lane: Clear. North lane: Big pile of NOPE.

On Tuesday, Oct. 25, Tyson and I loaded the boys up in the van to head to Atlanta to pick up Tina, whois amazingly going to hang out with us for two whole weeks!! Unfortunately, there were a series of delays in getting Tina. First her flight was delayed, then a bad accident on interstate meant we had to find an alternate route out of Columbus, increasing our drive time from 1.5 hours to 2.5 hours to Atlanta, then Tina's luggage was VERY late arriving. Our original plan was to go to Atlanta, pick up Tina around 4:30, and head to a hotel in Alpharetta. Between all the delays and Atlanta traffic, we didn't get to our hotel until after 8:00.

But, we got there. We just hung out at the hotel, watched some TV, and went to bed. We spent Wednesday morning wandering around the mall in Alpharetta. It was a very nice mall. Tina, the amazingly sweet soul that she is, even got me an adorable coffee cup from Pottery Barn. It's the perfect cup to sit down and drink from while reading. We also went to a Lego store in the mall. The kids were beyond fascinated. As a side note, if anyone needs Christmas ideas for the kids, they have Amazon Wish Lists. E-mail me or comment on the post if you want a link to their lists. After the trip to the Lego store, I definitely added a few items to their lists!

After the store, we finally went to the Geneticist's office. We got there too early, though, and they were still at lunch. It was okay though, a little waiting didn't hurt us. When we first got there, Tina was planning on staying in the waiting room with Myck while Tyson and I went back for the appointment. But when Dr. Vidya started asking in-depth questions about family history on Tyson's side, we pulled Tina in since she knows more about that than we did.

Dr. Vidya Krishnamurthy

Dr. Vidya, by the way, is amazing. She is the most bubbly, vivacious, and funny doctor. She is extremely thorough, cares about her patients, and just exudes knowledge. She practiced in Malaysia for 12 years, is a Fellow at the American Academy of Pediatrics, a member the American College of Medical Genetics, studied genetics at Duke University, and is also Pediatric Certified in the UK, where she's a member of the Royal College of Physicians. She's got some good creds behind her.

She asked us all sorts of questions, in-depth questions. She wanted to know the health history of just about all of our family members, like if anyone is double jointed, or had endometriosis. Just for the record, I have no idea who all is double jointed in my family. I never thought I'd need to make a list of who has bendy joints. According to Dr. Vidya, there are some connective tissue disorders which can cause eye problems, and she wanted to check to see if Lynk looked like he might have one. She bent his thumb to see if he could touch his thumb to writs (he couldn't), pinched his skin to see it it was super elastic (it wasn't) and hand him bend over to touch his toes and stand up slowly to get a good look at his spine. Turns out he isn't very flexible.

At the end of the appointment, Dr. Vidya said that she wants to run several genetic tests. She wants to

go ahead and do a Stargardt's panel, which would look at all genes associated with Stargardt's and similar conditions. But she also wants to run a mitochondrial test to check for connective tissue issues. If all those come back negative, then she said she'd run his whole darn exome. She also got blood from Tyson and I, just on the off-chance that they need parent blood to test for recessive traits. Lynk was a trooper during his blood draw! He said ouch once, but never even cried!

So now, Dr. Vidya will contact the lab to order the tests, and the lab will contact insurance to talk about what they'll pay for. So hopefully insurance fully approves whatever genetic testing Dr. Vidya wants done.

I've just realized how long this post is getting, so I'm going to end this one, and write a separate post about everything else that has been going on, including Lynk's allergy appointment, Myck's trip to the ER, and Lynk's writing skills.