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Tuesday, February 3, 2009

Amnio results on paper

They sent me the results and a confirmation of the telephone conversation. The chromosome result confirms that she is female. So much for my father in law's theory. Even though I have seen like 4 ultra sounds seeing that she is a she, my father in law was convinced that it was wrong. I can understand being iffy on one ultra sound, but when you have multiple ones later and still no package goods indicating a boy, then I think I trust the doctor's.

So, back to business. "The reulsts of the DNA analysis for cystic fibrosis indicates that Elizabeth inherited a CF mutation from each of you. She inherited the delta F508 mutation from Sherry, and the R117H mutation from Simon."

"You will recall from our previous discussion tht the R117H mutation is not a typical classical CF mutation. Only when it is paired with a polymorphism known as 5T does it function as a true CF mutation. Simon does not have 5T. His genotype is 7T/7T. Thus we know that your baby has delta F508 (which is a classical mutation) and R117H 7T."

"Predicting the exact effect of this genetic make-up on your daughter is not possible. However, it is unlikely that she will have classical CF. She may have unclassical CF, pancreatitis, sinusitis, or be relatively asymptomatic."



So that I didn't really mess up the facts, I just quoted the letter. So, that looks pretty good doesn't it. I really hope she doesn't have pancreatitis. I had it when I was in the hospital after having my spleen removed and it hurts real bad. My mom and her best friend both have chronic pancreatitis, and it's no joke. It's so "weird" to see the name "Elizabeth" in reference to my baby, and see the words "your daughter."

Maybe this is more for the genetic counselor but what is 5T and what is 7T. I know this doesn't matter when it comes to Ellie and her CF, but I have always been interested in genetics, sciences and all that good stuff. So, I'm just curious, what exactly is that referring to. I'm gonna take it to google, but I do have a feeling that I will do best by asking the genetic counselor my curious question.

On another note, I'm feeling a lot better. I had not 1, but 2 bowls of cereal this morning, and I don't feel sick. YIPPEE. But, I've decided to not go to Babies R Us, but rather go to Target, and a used baby store in the area. Babies R Us is in a different part of town that right now I just don't feel like traveling to. Then I get to Ellie on the ultra sound. Hopefully she's doing fun gymnastic moves again and I'm hoping to get another great picture of her face. I'll update later.

6 comments:

Lil' Chris' Mom said...

Isn't it nice to know for sure now? I'm still waiting for the newborn screening results to come back on my daughter. My husband and I are both carriers of DF508, so if she does have it, she will probably have 2 DF508 like my son unfortunately. This kind is the worst kind. You're very lucky with your results and should be happy. I believe that kind is a more mild type of CF. But I'm no dr.:) I'll be praying for you to feel better and have a great pregnancy:)
M
acure4lilchris.blogspot.com

Kimjj514 said...

I pray that Ellie ends up having the most MILD type as possible. I'm glad you're feeling better and were able to eat this morning. I hope your u/s goes well. You and your family are in my thoughts and prayers all the time. Hang in there girl!

65-roses said...

I have the ΔF508 mutation, but I think it is double, and not ixed with anything else, so hopefully your littl daughter will be much better off. I'm a bit iffy on unclassical CF, i presume this means a more mild version of CF. Xx

Zoe Isabella said...

Hi Sherry,
I just ran across your blog tonight. I have 2 sons with your daughters genes. One is 17 the other is 12. As of today, they do not have one single symptom of CF. I also have a daughter who is almost 5 (different dads) who has classic CF (DF508 and 1717-1G-A). DF508 is a class 2 mutation, R117h is a class 4 mutation. A class one is the most severe, with a 5 being the least. 1717-1G-A is a class 1, so Zoe has all the CF issues. If you visit cysticfibrosis.com....go to the forums..put in the search bar your daughters genes...there have been many discussions in the past about them.
Hope this helped some....
Take care,
Jada

charm said...

Hi There, I have a daughter aged 27 and she has DF508 and G60X and although she had tough times growing up she is doing "well", lives in London and is currently doing a CF genetic Trial for 3 years...I have never known what the classifications meant and have tried to google it but I am not so good on the research side...lol. All I would like to say is take each day as it comes, you will learn quickly what you baby's needs will be and adjust yourself to it. - it may sound like NO Way - but all mom's and dads learn to adjust - ask any parent.....God Bless Charm

Alicia said...

Sounds like great news! I'm very happy for you.