Hannah’s DNA was sent off for sequencing on February 7th. We were told 6 weeks. Two weeks ago, our doctor’s research coordinator was told they would be available last Monday. When she checked on them last week, the genetics counselors were “out of town” and to check back this Monday, today!
I’m scared to death. I know that “it is what it is.” But I look at Hannah at 8 months old, and with the exception of her lack of rapid eye movements and some other minor abnormal eye movements, she seems good. Of course, I’m worrying about the coughing/choking episodes we see a couple of times a day, but those have not been severe. All but one have actually been very minor, with her resolving it within a couple of seconds, which could also be due to her laryngomalacia or just drool.
We know that one of the genes, 84gg allele, is most likely mine. It is a type 1 gene, but the most severe type 1 gene. Being an Ashkenazi Jew, it is likely mine since Daddy isn’t Jewish. He’s the wildcard.
Tomorrow I also have to go back to my doctor for a blood pressure check to see if my BP meds are still keeping me under control. I’m nervous that he is going to “up the dose” because I have a feeling my BP is up with all the stress and lack of exercise lately.
Good luck today, Carrie. I hope you the news is favorable. Let us know how things go…crossing my fingers, toes and Ella’s fingers too.
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I cannot imagine the worry you must feel- I pray that the peace of the Lord will be your portion today. You are in our thoughts and prayers.
Blessings!!
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Praying for you! I can’t imagine!
We’ve got our fingers crossed for you!
Have you ever heard of this doctor?
http://www.genome.gov/11007883
She’s doing some very interesting Gaucher’s trials!
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still watching and waiting. Hope you are hanging in there.
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