Lilypie Maternity tickers
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Friday, June 11, 2010

My Midwife is Not a Doctor

My midwife is a lovely, warm person, skillful in the ways of pregnancy, birth, and infant care. But she is not a doctor and is starting to get on my nerves.

I have a blood disorder called alpha thalassemia that makes my red blood cells smaller than normal and lowers my blood count to the point where I show up as anemic on all blood tests. This is a genetic disorder and has nothing to do with iron intake.

I have told my midwife this many times and even had my genetic counselor write her a letter saying that all the iron supplements in the world will never fix my blood count. I could eat a railroad tie for breakfast every morning and all that would happen is that I would get nauseous and constipated.

Yet, at every appointment, my midwife bugs me about taking more iron. I just got another message on my answering machine telling me I should be taking 3 iron supplements in addition to my prenatal vitamin. She knows that I have had detailed genetic counseling and a full review of my iron levels (which are perfectly normal), but she just won't let it go. She thinks I am being stubborn and ignoring her advice, but she refuses to assimilate any new information regarding my specific condition. Grrr.

/rant

Wednesday, April 14, 2010

Alpha Thalassemia Trait

I got a call from the genetic counselor at the Big Hospital today, telling me that I have Alpha Thalassemia Trait of the trans variety. This was not a big surprise — it is common among people of Mediterranean descent and I was tested when I was a young child, but I did not know the specific results of those tests (other than that they were positive).

This is not a big deal for Snapdragon. FB is not a carrier, so Snapdragon will either be unaffected or will by a symptomless "silent carrier."

It's not that big of a deal for me either. My red blood cells are still small and I will always show up as anemic on blood tests, no matter how much iron I have in my system. Now I just have to make sure that my midwife understands this, because the last time we saw her, she seemed pretty confused by the whole thing and wanted to put me on iron supplements.

Sunday, March 14, 2010

Ultrasound

Arms, Legs, and a Big Chin
On Friday, I went for a nuchal translucency scan at the big medical center in the city. FB is on a business trip, so my mom came with me. We got to see Snapdragon for the first time, which was pretty exciting.

S/he was flipping all around, so it took a little while for the ultrasound tech to get a clear picture. When she was finally able to take measurements, Snapdragon's neck was totally normal and her/his length was right on track for 12 weeks 2 days.
I am an otter.
We were in there for at least 20 minutes and Snapdragon was squirming like mad the whole time — jumping from one side to the other, waving its arms around, touching its face, etc. It was fairly alarming to see so much movement, but not be able to feel anything at all. When you consider that Snapdragon is nearly 3 inches long, I could have a hamster running around in my abdomen and never know the difference.

After the tech got some good looks at Snapdragon, she looked at my ovaries. My left ovary looked fine, but I have a big cyst on the right. One of the doctors came in and took a look at it and said that it's normal to have a cyst from ovulation, but that mine was pretty big (about the same size as Snapdragon, actually), so she wanted to keep an eye on it and ordered another ultrasound for 3 weeks from now.

I'm not particularly concerned — I've had ovarian cysts before and as long as they don't get twisted, they're no big deal. I'm glad we'll get to have another ultrasound when FB is home. It's reassuring to see that Snapdragon has a head and an appropriate number of limbs. At the next ultrasound, s/he will be 15 weeks and 2 days — perhaps the tech will be able to take a guess at the gender.

I also got to talk to a genetic counselor before the exam to discuss the nuchal translucency test. When she took my history and looked at my blood panel, she seemed pretty alarmed at my iron levels and my history of thalassemia. She ordered that I get some extra blood tests and that FB get tested as well, even though there is virtually zero chance that he is also a thalassemia carrier. I find that doctors asking about my thalassemia ask me very strange questions — "Do you feel ok?" "Are you tired?" I can say for sure that I am tired, but I am also pregnant. Sure, I feel ok, but it's silly to ask me if I feel normal — it's a hereditary blood disorder, so I've never felt anything different.
The Claw