Saturday, September 09, 2006

In 2 hours the Charlotte Weekly reporter will be here, and here I sit, blogging. Heh. Guess I'm not too damn nervous.

Nova's been gone over 5 months now, and I just got the genetics results in the mail. Sure, we'd already gone to talk to Dr. Wagstaff, but getting the paperwork is just... Different.

The results are a sort of summary of their findings for both Alexis and Nova. They put Alexis' last name as Monahan. I hate it when they do that. She never came home from the hospital and because of that, and her very young age, she was always pretty much called "baby girl Monahan." Like she never deserved her own name.

Basically, all it says - in doctorese, is that neither of them were positive for 22q 11.2 (a.k.a. DiGeorge Syndrome) Apparently the Chromosome analysis and 22q 11.2 FISH deletion analysis were normal on Alexis, and Nova had further testing, a chromosome analysis, the 22q11.2 FISH deletion analysis and a subtelometric probe FISH analysis (I don't even know what this 'subtelometric' is, or what FISH stands for) and all three were negative.

There is no reason for my children to have had their heart defects because:
The only currently known cause of familial pulmonic atresia with ventricular septal defect is 22q11.2 deletion, which was not present in either Donovan or Alexis. I am only aware of one report of pulmonic atresia in parent and child. Nothing is known about the possible genetic basis of recurrence of pulmonic atresia with ventricular septal defect in siblings. I have tried to determine if research studies were being carried out on families that have had two or more children with this congenital heart defect, but I have not been able to find any research projects looking at this question.
That was hard enough to know before they died, harder to hear after they died, and unbelievably frustrating to see in print.

The only good news in the letter was that the geneticist believes that if we were to have another child, we'd have a 25% chance of the same thing happening again. That's considerably lower than the 40% he quoted at the appointment in May (or was it June? Who knows.) So Yay! We have a one in four chance of having another heart baby. Glad I got my tubes tied, even though I still cry about the fact that I can never have another baby.

At least he was sweet enough to add that he was
"...sure that this has been very difficult for Ms. Monahan and Mr. LeClair to have two children pass away from the same severe heart defect. I assured them that the cardiac problems in Alexis and Donovan were clearly not caused by anything that either of the parents ate, drank, smoked or were exposed to either prior to or during the pregnancies. I think that the risk of similar cardiac problems in children born to any of their other children or other relatives is very low.
I enjoyed meeting with Ms Monahan and Mr LeClair. I encourage them to contact us with any further questions.
No point in contacting them, they can't answer my questions. It must be frustrating to be a geneticist in a situation like ours. There just aren't any answers, not until there can be more research, which obviously isn't happening...


posted by Erin @ 2:25 PM   3 comments



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Name:
Donovan "Nova" LeClair
Location:

Monroe, North Carolina
Bio:
Nova was our second child to be born with congenital heart defects. We lost our daughter at 12 days after open heart surgery in 2001. Nova was born 12/2/05, with Pulmonary Atresia with VSD. He lived 6 weeks after surgery, and passed away on April 6th, 2006. This blog is his story, and the on-going story of how our family is dealing with the loss of our beautiful boy.
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