Wednesday, May 29, 2013

Our Medical Mystery


As many of you know, Hughes is our expensive child when it comes to anything medical.  He's had 2.5 surgeries (.5 was for tubes since it was very minor), numerous follow ups, and well, now another to put on the list.

When we moved up here in August, I had to find the boys a new pediatrician.  I chose Kidz Docs because they were close by and were in the approved list of doctors for our new insurance.  The first time I went with Collins I can't say I was too impressed.  It was in an old, dingy building and was just not what I was used to in Charleston, SC at Seacoast.  But, we forged ahead and the waiting room was nice as well as the nurses.  Collins' check-up was no problem.

A few weeks later, we had Hughes' yearly check-up.  Dr. Russell was who he was scheduled to see.  Different from Collins but in the same practice.  Dr. Russell did some observations and asked lots of questions about his history.  He then told us that Hughes had a heart murmur.  What?  We have never been told that so I thought it was interesting that at age 7 Hughes would be diagnosed with a heart murmur.  He went on to ask me lots of other questions while mentioning that his ears protruded a little farther from his head then what is considered normal.  Again, interesting but not earth shattering.  Dr. Russell said that he wanted us to see a geneticist to see if any of these little pieces (cleft lip, hypospadias, heart murmur, delayed speech, etc) fit together somehow to form a bigger picture.

Fast forward 9 months and we finally had our appointment with Dr. Rosenbaum at Children's National Hospital.  He is a pediatric geneticist and was wonderful with us and with Hughes.  In fact, he was jockeying for Hughes to get some new Legos at our appointment for his bravery.  The appointment consisted of a thorough history of Hughes and some of me and David.  Dr. Rosenbaum has put in a request to do an assay to look at Hughes' genetic make up but we have to get insurance approval first since the test is about $3000.  He concurred about the heart murmur and referred us to a pediatric 
cardiologist.  

Yesterday, we met with Dr. Beder, the pediatric cardiologist.  Hughes had an EKG done which he did perfectly and then also had a sonogram of his heart.  Dr. Beder detected two heart murmurs and a small hole in the upper chamber of his heart.  He told us that 25% of adults have holes in their hearts and that if the hole hasn't closed by this point then there was a great chance that it wasn't going to close.  He said it wasn't that big of a deal and to come back in 2-3 years for another check-up.  

Now, we wait to see if insurance sends approval for the assay and then if approved we will have Hughes' blood drawn and then wait for the results.  Until then, we play, we swim, we carry one with life :) 



1 comment:

Stacey Iofredo said...

WOW. AW...how scary! What an AMAZING pediatrician you've found though. Thank God! I'm so anxious to hear about what comes from the testing..you're all in our prayers and I just LOVE reading about all of your boys and their adventures. Life looks so fun to be a Holman!!!
xoxo...Miss you lots!