The Martin Family: June 2010

Hello all! I wanted to update everyone since we recently got the results of Emmarie's genetic testing. Emmarie had what they call at TBX5 gene mutation study. Basically in 70% of those people diagnosed with HOS they find a mutation on that gene. Unfortunately (or fortunately I'm not quite sure yet) they did not find any mutations, the test results were "normal." We were hoping they would find the specific gene so that we would be sure of her diagnosis and that Jason and I could get tested to rule out that she inherited the condition from one of us. Although all the doctors have said that it is almost certainly a fresh mutation since neither Jason or I have any signs or symptoms, it still makes me a little nervous. Since they did not find the gene in her, there is nothing to test us for. Basically they would have to map her entire genome to see if there is a mutation somewhere, which is financially impossible right now. The geneticist said there is really no reason to do more testing at this point. It doesn't change the course of treatment. It will be important for her to locate the gene before she has kids, but hopefully by that point genetic testing will have advanced to the point that it is an easier/cheaper process. He also said if anything changes in her that would send us in another direction as far as diagnosis then we will explore other things that could present like HOS. Right now he does not believe that is the case. So, again we're just kind of in a wait and see pattern. She will re-visit both the cardiologist and the orthopedic doctors when she turns a year old. Emmarie is doing awesome, thriving in all areas! She is growing and getting so smart. She's using her hands amazingly well and is right on track developmentally. She started saying "Mama" a few weeks ago which is so amazing! Eli said Dada WAY before he said anything close to Mama. She started clapping this week which is so adorable. She's doing wonderfully well and we feel extremely blessed.

In other news...........we recently had a big change around here when Jason decided to finally make the switch to self-employment. His last day of work was June 8th, and he is thrilled to be out on his own. Things are going well and he is much happier, which is great. He is working with a company calling ESW holdings doing real estate investing. It's a big change for us, but we're confident it's for the better for our family. Finding affordable health insurance has been the biggest challenge, but thanks to President Obama hopefully we can all get covered. I wasn't a fan of Obamacare, but I really had no idea what some of the specifics were. All I know now is that starting September 23rd kids can no longer be denied for pre-existing conditions. That is welcome news for us! Our COBRA payment will be $1100 a month!! but we are hoping that we will get other coverage soon. I've just been saying lots of prayers that it's going to work out and we believe that it will. I now really understand how hard it must be for others who have been in similar situations to get covered. The problem is Emmarie gets denied from private insurance for her condition, denied from State healthcare bc we make too much money, denied from Social Security bc she's not technically "disabled." So that leaves a lot of people in a black hole with no coverage. Anyway, like I said I believe it's all going to work out for the best, we just have to be patient.

So far this summer has been so fun! Here's a short re-cap of what we've been up to. We started it off with a trip to the lake over the Memorial Day weekend. It was fun hanging out with the family. The kids and I have been swimming with friends several times and they both LOVE the water, especially Eli. He is a little fish! He is doing really well at swim lessons and last night swam 1/2 across the pool by himself. Jason was out of town for a few days to a music festival in Tennessee (birthday present from me), and we stayed busy while he was gone. I took Eli to see Shrek 4 (reward for finally being fully potty trained, hallelujah).One day we went swimming and to the circus with friends and had a great time. We recently went to a Driller's game with two fun families and had a blast. Last week we went to the library for storytime and to sign up for the summer reading program. Last weekend we all had a great time at the Vernon family reunion on saturday, and we took Eli to Toy Story 3 on Father's Day. He absolutely loved it of course. Last night Jason and I got to go to the Michael Buble concert which was amazing. He is awesome. Today the kids and I met friends at the new Bentley Park in Bixby for some fun at the Splash Pad and then lunch at Chick-fil-a. I need to get better about taking pictures and video, but here are a few pics from recent events.....