Saturday, January 22, 2011

January 2011...A Month of Doctor's Visits

Most people are strategic with there major medical visits. They schedule them towards the end of a calendar year when insurance deductibles have been met for the year and visits are covered at a higher percentage, if not 100%. Not us! No, we choose to schedule several major appointments in the first month of this new year of insurance. With this new (fairly high) deductible to meet! Awesome, I know!
So, it went something like this. Daniel was seen for back pain and nerve "issues" at which time the doctor advised an MRI done on his back. He also saw and ENT for his nose and allergies problems who also advised a CT scan of his sinuses and allergy testing. After completing those, the ENT recommends an MRI of his brain along with a vertigo test. Lovely! Then, Presley saw her cardiologist for her yearly check-up and he confirmed our interests in seeing a genetic doctor to review any complications there. This appointment is not only for Presley but also for Daniel and I to determine (a better outlook, anyway) what our risks are if/when we get pregnant again.
The appointment with the genetics department is so important you don't even get to choose when your appointment is!! They schedule it and you show up...rain, sleet, or snow!! And snow, it was! But we made it.
We received a lot of information from the doctor. A lot of this information was well over our heads! But he did a good job of explaining it for us. And I will summarize for you!
The likelihood of Presley having Trisomy 16 (mosaic), which was the cause of our miscarriage last Spring, is slim. Trisomy 16 is the most common reason for miscarriage in the first trimester. That combined with the fact that VSD is the most common congenital heart defect slims those chances even more. After a physical examination the doctor told us about two syndromes that he wanted to test for specifically. One being Noonan's Syndrome and the other being DiGeorge Syndrome. You should google them! Or don't! It is kind of scary for this mom to read about.
Basically, there are some little folds of skin in the corners of Presley's eyes and her "cute button nose" trigger his thinking of Noonan's Syndrome. They drew some blood and will test each and every chromosome to see if there are any deletions or abnormalities.
Now, because we had a daughter with a congenital heart defect our chances of having another baby with the same go up to about 50%. We will have a better idea of whether or not we should be tested after Presley's results return in about 8 weeks.
So, there you have it! That fairly high deductible will more than likely be met for this year after all of this. And we likely will be living in a cardboard box after paying all that we will owe to Vanderbilt and other doctor's but it will be worth it, I think!!
I am not sure if any of this will make sense. It is all kind of a blur to me at this point. So much so, that I did not even google the syndrome's until 24 hours after our visit. And once I did regret set in!!

1 comment:

The Writer Chic said...

Ha. We'll be in the cardboard box next door. I think our deductible was met by 1/12. I told Jim we may as well have another baby this year, so the Lovenox, etc., is already paid for.

I'm so sorry for the added worries about Pres, and that "what ifs." No matter what the results come back though, Beth, your baby is fearfully and wonderfully made. Lord knows she couldn't be loved any more.

Hang in there, hon.