Friday, November 11, 2005

Genetic testing

The ultrasound confirmed our fears about the baby's heart. He definitely has tetralogy of Fallot and vsd, and the one thing I was hoping most of all that they wouldn't find, which is pulmonary atresia. Pulmonary Atresia is the most difficult (from what I can understand) of them all to correct, and the most life threatening of the cardiac abnormalities he has.

We also spoke to a geneticist. They want to test us all after the birth for a chromosomal deletion called Digeorge syndrome (or 22q11) because the recurrence of these particular congenital defects is a red flag for it. Apparently, this can also come with a lot of other deformities in the immune system, the palate, the facial characteristics and other physical characteristics, as well as causing mental retardation or learning disabilities and deficiencies in the immune system. None of those things will be known until after birth. I have to do more research on it, but just what I've read so far... for Donovan's sake, and for my children's children's sake, I pray we aren't facing that.

What sucks is that if it IS digeorge syndrome, the first indication should have been 8 yrs ago, when my son had stomach surgery, because apparently pyloric stenosis is also an indicator. At the very least, when you combine the pyloric stenosis with the heart defects that Alexis had, someone should have realized that digeorge syndrome was a possibility. No doctor has ever put the pieces together and realized the possibility until now. Why?!

They did give me a super clear shot of Donovan's little face on today's ultrasound though, I'll post that later, and maybe some others from other ultrasounds. I have 2 of his 'maleness' that he seems more than proud to display for the camera.

Anyway, they're going to induce labor early so they can control when he's born - they want him born during the day, a weekday, so all of the pediatric cardiologists are on site when he's born. The doctors at The Sanger Clinic (the cardiac specialists) couldn't save Alexis, but I know that they're the best around for what we're up against. And the children's hospital and NICU department at CMC is amazing, so at least I can say that he'll receive the best care possible from the second he's born.

I'm trying to be positive, but it's hard after Alexis, hard to believe that this can have a happy ending, and hard to allow myself the luxury of thinking everything will be ok... or at least as 'ok' as is possible with the situation. I'm terrified and confused and I dread the emotional state I'm going to be in during labor and delivery, knowing that as long as he's in me, he's ok, but once he's born the defects make the decisions and the danger really sets in. Plus, we may be facing a whole other set of challenges that we know nothing about yet if this is Digeorge syndrome.

Someone (someone really wonderful) emailed me and let me know that I could vent to them about the unfairness of it, or rant and rave and vent the anger. I can't get there yet. After Alexis, the anger literally saved my life. I hope I find the anger soon, before I lose my mind.


  1. I'm so sorry to hear all of this. I am pleased that the doctors plan to be proactive. This can only lead to better results. As always, my email is open to you. I think of you and yours daily.

  2. Unfortunately Vickie, proactive or not, they have no control over the results. It all depends on the severity of the problems, and Donovan's strength. I think the proactive stance is to make us feel better, or maybe to make themselves feel better, I don't know really.

  3. Oh, Erin...I'm just wrapping you up in virtual arms here, and lifting you and Donovan up in prayer and positive energy, and desperately wishing I could do more...could do ANYTHING.

    Hoping and praying for the best...please keep us posted, and yes, feel free to cry out, shout, be angry, sad, hopeful, WHATEVER.

    So much love coming your way from here. I just don't know what to say.

  4. Erin, I'm not good at these things... I just found out so I came over to look. I'm sorry and am hoping for the best.

  5. Erin, I'm so sorry. It seems that it never rains but pours, doesn't it?
    You are in my thoughts and I wish and hope for the best.

  6. Hi, my name is Valerie and my son Zachary is 1 1/2 and has pulmonary atresia also. He's doing GREAT! Don't give up hope! You can learn more about what we've gone through and what you can expect by checking out his website at Also, if you have any questions or want to talk you can reach me at