Tuesday, December 09, 2008

Odds and Ends


Dear Mrs. WG,

I was excited to see D. two weeks ago in the genetics clinic and he surprised me in many aspects. He was extremely friendly and very cooperative. He made a very good progress since I saw him two years ago. At that time I was really concerned about developmental delay but fortunately now he is on the mild range.

Your chance of having a second child with Sotos is very low and estimated to be less than 1%. This risk is theoretical and based on the possibility of germline mosaicism (which means that some of the sperms or eggs harbor the same mutation that D. has). You should remember that to date, no recurrences caused by germline mosaicism have been reported in Sotos syndrome. However, this recurrence has been reported in other conditions with similar pattern of inheritance. We have a prenatal diagnosis clinic and we can coordinate the visit for you if you wish.

Assistant Professor
Department of Molecular and Human Genetics


Yes, we'll still schedule the CVS. Because.

Last night, we wound up hosting a small, second farewell party for a friend who is returning to Israel on Wednesday. One of the guests was telling me how she had just cooked Chinese food for someone who just had a baby.

"Oh, is that what you do?" I said, laughing.

"Yes, you should have another one," she replied.

"You know I'm pregnant," I said, grinning -- and then I saw Z., standing next to me, jaw dropped.

"Excited" doesn't begin to cover it. She's over the moon, which is terrifying, because WHAT IF. But also very sweet, because SO SWEET. Although she was sure to tell me that she doesn't have to be nice to me, only to my stomach.

How long do you think it will take Z. to tell EVERYONE IN TOWN?


Teej said...

Oh, sweet Z. LOVE HER.

Remember when we were eating dinner and she announced to the table that I was divorced? And when I told her that no, I have never been divorced, she swore YES YOU HAVE, YOU SAID SO? And it turns out that she misinterpreted something I said when we were watching Full House?

P.S. Don't you worry.

Lisa b said...

oh sweet Z.

You know 1% is like the geneticists way of saying no way is it possible but I won't put that in writing

Jenny said...

Yay - that is a great letter from the geneticist!