Sunday, November 9, 2008

Difficult news about Olivia

Last night we learned that in addition to Livy's heart condition (Tetralogy of Fallot), she did test positive for DiGeorge Syndrome. Basically, part of chromosome 22 is missing. It affects only 1 in 4000 babies, but is still the second most common chromosomal abnormality in infants. In my research, I found that the infant mortality rate for DiGeorge babies is as high as 55% in the first month and 86% in the first 6 months of life, largely due to the heart defects and immunological deficiency which accompany the disorder. For now the only thing we can do is feed her like crazy and hope she grows quickly enough to have her heart surgery ASAP. Down the line, we won't know how severely she will be affected by DiGeorge until time progresses. She may have delays in developing speech and fine motor skills, she may be on a feeding tube depending on her digestion and how well she can learn to eat...by the time she is 7 or 8 we should know if she has any learning disabilities (children with DiGeorge often have an IQ between 70 and 90, though this is skewed b/c their only trouble is with reading comprehension and mathematical reasoning skills). I think there are other possible issues, but these are the ones that seem to be most common, from what I can gather.

For now, we plan to talk to the doctors to see what type of immediate steps we must take to ensure her health. We also need to talk to a geneticist to see if we should test the other two girls and to get ourselves tested to see the likelihood of passing this on to future children.

The good news is that Paul doesn't feel the slightest bit overwhelmed by all of this, but I'm having so much trouble accepting things. We went through so much just to become pregnant and now the next few years of our lives may be filled with even more doctor visits and medical complications than we ever imagined. My heart is breaking for my little girl, who has a complicated future ahead of her. And the worst part is that I can't seem to find any information on how DiGeorge affects people into adulthood. I know the complications of infants and children, but I don't know how adults function. Can they hold jobs, support themselves? Will she be emotionally and psychologically capable of dating, getting married, having children? It seems like it could be promising, though I have no idea b/c I can't find any information about adults. I do know that she will have a 50% chance of passing this on to her children, so she will likely have to undergo genetic testing when she gets pregnant...which would mean IVF...something I wouldn't wish on any of my girls. And apparently there is a 30% chance of psychological disorders like schizophrenia or bipolar disorder in adulthood.

I just hope that Paul and I can figure out a way to take the very best care of our little girl and give her enough love to make up for the challenges she will face.

Mommy & Livy
Photobucket

7 comments:

Mimi said...

I just wanted to say I'm sorry about the findings. I will say a little prayer for your baby girl. I hope she can get her surgery quickly. I will keep your family in my prayers.

Kami from TWW

Scarlett said...

I will be keeping Olivia in my prayers and specifically praying that she is able to grow quickly and receive her surgery to repair her heart. Just try to take it one step at a time:)

Scarlett

Haymonds said...

How horribly scary!! I can't imagine how GUTWRENCHING it must be to hear that....but at the same time, I know that you wouldn't change having her for the world, even with all the drama. What an amazing gift children are, even at a very dear cost! Our prayers are with you and Livy.

Jessica said...

Hello,
Just delurking to let you know I'll be saying a prayer for your whole family...
I'm sure Olivia will be just fine, but it's awfully overwhelming at this time and I really understand that.
I'm a fellow mom to triplets, as well as twins, and have loved following your blog...
Many prayers.

Kate Smith said...

Delurking here. My 2 year old has a severe seizure disorder (started having seizures since 2 months old)and it took me a good year to accept all that comes along with the disorder,get rid of the mommy guilt and just accept my little sweet guy and love him and kiss him everyday!!My heart goes out to you and your family!!Take care
Kate Smith

Meluch+3 said...

Delurking to let you know that we'll keep you in our thoughts.

Mel

Anonymous said...

Hi Crystal hope all is going well with all the girls. Please keep me posted on them. I open up your blog all the time to see if there is any new news. Take care Tricia

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