On Tuesday Damian and I were suppose to go in and talk with the NICU pediatricians to get our questions answered and I also had a prenatal visit. Unfortunately both the girls were sick and not wanting to share our illness with others Damian opted to stay home with them. I guess the good thing was that they messed up and never scheduled the NICU Peds appointment so Damian didn't have to miss out on it after all.
The visit started good with great blood pressure, good weight and not much to complain about except for the bad joint pain I have been having. I went into wait for the doctor. She started out by introducing herself and then said that she noticed that some of the results from my amniocentesis were not back and she called down to get them. Than came the knock at the door and the bad news. After growing the cultures they found out that our little guy has DiGeorge Syndrome or 22q11.2 deletion.
What is DiGeorge Syndrome? It is where part of the 22nd chromosome is missing. It is not well known about but is the second most common chromosomal disorder, Down Syndrome being the first. It can affect almost every system in the body and can cause a wide range of problems. His heart defect being one of them.
They have found over 180 different health problems in people with DiGeorge but each case is different. We will not really have an idea of what problems he will have until after he is born. Some of the most common problems are:
* heart defects
* feeding problems
* immune system deficiencies
* growth delay
* kidney problems
* hearing loss
* seizure disorder
* cleft palate
* developmental delays
We are scheduled to meet with a genetic counselor on Monday at which time she can answer any questions we may have, get us in touch with a support group and help us set up a care plan. (which will be hard to do until we know the extent of his problems) We will also be meeting with the NICU Peds to go over what their role is and answer our questions.
Wish us luck and please keep us in your prayers. We are going to need all the strength and help we can get. Thanks and we love you all.
6 comments:
I can't even imagine the hurt you must be feeling right now. I'm so sorry you have to go through this. I think of you every day, and I wish I was closer so I could do something more than that! Please call me if you need me!
Tell the girls hi from my girls, and tell Aniela that Gretta named her bear Ella after her. ;)
How is it going? Let me know if you guys need anything. I can't imagine having to go through this, you are so strong. The stress of the unknown is the worst, your whole family will be in our prayers.
Liz, we will definintely keep you and your little guy in our prayers! I'm so sorry that you and he will have to deal with this.. If you need anything that I can do to help from Utah, let me know!
Of course you are in my prayers - I was really surprised as I looked into DiGeorge and how vast the symptoms could be, and yet I'd never heard of it. Let me know when I can watch the girls, MaKell would welcome the playmates!
You and your family are in my thoughts and prayers.
Oh...Lizzy. I'm so sorry, I'll be thinking of you often and keeping you in my prayers. Check out my friend Judy's blog. She has a darling little boy named Benson who is down syndrome.
http://mckenziejudydan.blogspot.com/
You're such a good mommy and you have such great family support. Don't forget you have friends who love you too! Continue to keep us updated.
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