We love Joel. He is always happy, and always fun to have around. But this past week was sort of an emotional roller coaster for him.He was born with a condition called Pectus Excavatum. Basically, the cartilage of his chest wall is causing the sternum to grow down toward his spine rather than level with the ribcage. This causes a big indentation in his chest. It has become more noticeable as he has grown, and will continue to deepen as he grows even more.
We went to OHSU to have a specialist look at Joel, and they recommended a corrective surgery called the Nuss Bar procedure. Basically, they made small incisions on the side, and shove a metal bar under his ribcage that forces the sternum into the correct position. The bar is left in for a year or so, and then removed as an out-patient procedure.
A CT scan was done, showing that Joel's heart was shoved out of its proper place, his lungs were restricted by the shape of his ribcage, and that the dimension between his sternum and spine was in the severe/moderate range for this defect. I spoke with our insurance company, they said that Joel would definitely be covered for this surgery based on those criteria, and we scheduled his surgery.
That date was for 6AM yesterday. Joel went to school last Thursday thinking it was his last day for the year. He cleaned out his locker, said goodbye to his friends and teachers. He turned in all the work that the teachers had given him to do to finish up his year. He even gave up his solo in the upcoming choir concert because he would be recovering from his surgery.
And then it happened. We found out last Friday that our insurance company decided that they wanted Joel to undergo two more tests before they would preauthorize his surgery. He has to have pulmonary testing, and an EKG to see how his lungs and heart are functioning. After this, then they will pay for the surgery.
So the surgery is postponed.
But poor Joel. He spent Friday sort of like Rapunzel from Tangled. You know the scene were she finally leaves the tower, and she goes between running around screaming about how fun it is and lying in fetal position crying because she will be in so much trouble? Joel went between happy and laughing about the irony of his situation, to sobbing uncontrollably thinking about going back to school and facing everyone again. Their last day is June 17th, so it's not like it was just another week of school. If that was the case, I would have let him just be done.
I let him stay home yesterday, and he said he would be fine to go today and face everybody. But it took him about 30 minutes to get in the car, and another 20 minutes to get out of the car once we were at school. Again, laughing and then crying. But I made him go.
He gets to miss tomorrow for his pulmonary tests, and I promised him sour patch kids and DQ after school if he made it through the day with a smile on his face. We'll see what happens.
Where did this pectus thing come from? I have no idea. Nobody in my family has it. Nobody in Mark's family has it. But 4 of our 5 boys have it--2 are very minor, and one other as severe as Joel's. I'd like to see the Punnett squares explaining that one. 80%? We defy the laws of genetics.
4 comments:
jeremy has a dent in his chest... though it is definitely isn't as serious as joels. good luck!
wow...I didn't know Joel's was that severe. Did you know Kyle also has a 'dent in his chest'? I hope it all goes well. You are such a good mom. It would have been a toss up between the DQ plan and 'homeschooling' the last two weeks : ) Joel (et al) was so fun with Ian last night. Thanks again. I hope the concert was fantastic!
Not sure you really wanted an answer- but when I asked my genetics guru husband about it here is what he said.
Short Answer: Pectus Excavatum is most likely a polygenic disease (several genes contribute to the phenotype - think height and skin color), which are too difficult to interpret using simple Mendelain genetics and Punnett Squares. When you add in the real-life complexities of epigenetics, simple Mendelian inheritance doesn't really work for most human traits and is best left to Biology 101 courses.
Longer answer: If you want to pretend that it is a monogenic disease (and recessive since parents don't show phenotype) then the chance of a child having the disease is 1/4 (50% father passes x 50% mother passe - Aa x Aa gives 1/4 aa). The probability of having four children with (aa) and two without (AA or Aa) is (1/4)(1/4)(1/4)(1/4)(3/4)(3/4)=.2x% x 6 combinations of 4 children presenting = 1.2 %or about 1/100. You can't defy the laws of genetics (they are laws after all) because it's all about probabilities.
Thank you, Heather! I knew it was more complex than a Punnett Square. I agree that those are best left for Bio 101 assignments. We are not fruit flies or pea plants, after all.
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