Thursday, March 12, 2009

One Bad X-Chromosome

The blood test results show that I am a carrier of Hemophilia. The following information is from WebMD:

What does it mean?
"A woman who has the defective gene is called a "carrier" -- she carries the disease and can pass it to her children. In most cases, though, the woman has no symptoms of hemophilia. When a woman who is a carrier has a son, the son receives one X chromosome from his mother, so he has a 50% chance of receiving the defective gene (and a 50% chance of receiving a normal copy of the gene). Boys who receive the defective gene have hemophilia. Likewise, when a woman who is a carrier has a daughter, the daughter has a 50 percent chance of receiving the defective gene and, thus, being a carrier herself."

The fact that I don't have hemophilia and that I've never had the experience of bleeding excessively suggest that my other X-Chromosome is healthy, producing enough factor VIII for my body to heal properly. We'd like to think the Little Peanut's got the healthy X-Chromosome at conception.

What Happens to the Baby?
"During pregnancy, health professionals can use amniocentesis and chorionic villus sampling (CVS) to test the fetus for the genetic defect that causes hemophilia. If the fetus is found to have hemophilia, you may choose whether you want to complete or terminate the pregnancy. If you decide to continue with the pregnancy, your health professional and a genetic counselor can help you learn about health issues that affect the fetus before delivery and will affect your child after he or she is born. With modern therapies and by being as careful as possible to prevent bleeding, people with hemophilia can expect to live a normal life span." (WebMD)

What Happens Next?
We scheduled an amniocentesis for Tuesday, April 14th. Dr. Liu wrote a personal note to the doctors and nurses who are going to perform the amniocentesis, asking them to contact Dr. Chen, the hematologist, to find out how much amniotic fluid he will need to do DNA testing on the Little Peanut. Aside from Hemophilia, they're also going to perform other routine checkups (i.e., Down Syndrome).

My Thoughts
I'm sorry if knowing this causes you extra worries or stress, but I'd like to ask you to withhold the urge to express your concerns or sympathy because there's simply no need for it. My hands are already full 'cause my mom is pretty upset about it. She thinks that I've been through enough in the past two years and she just hopes that for once nothing would go wrong. She's trying to focus on the positive, but I think the test result triggered a lot of suppressed emotions that she's felt since her brother's death.

I'm not worried about it. The fact that I'm a carrier doesn't mean the Little Peanut will get it. Moreover, even if it's a he and he does have hemophilia, it is totally manageable nowadays. Well, he may never be able to get into the NFL or pro-wrestling, but he can still become a brilliant scholar or the President of the World as his daddy wishes.

Prayers and encouragements are welcome. Oh, you can always send us some homemade cookies or... um... a box of pictures (nudge, nudge, mom).

4 comments:

Pop said...

We'll be praying for sure!

Mom said...

Kate, all three of you are in my prayers daily. I have every confidence that you all will be just fine. I will also pray for your mom that she can have peace about this and not be so worried.
Also, Kate, I am so happy to read how you are dealing with this new issue. Hang in there and continue to stay strong, even though I'm sure it gets hard sometimes.
I love you.
Mom

Shellee said...

I'm not worried. Sure it's something that needs special attention, but my gosh, with science and medicine today......Peanut will be just fine! ;-)

It's nice to see that you're thinking positively, keep it up! ;-D

Unknown said...

Well, I believe the Little Peanut is fearfully and wonderfully made just as all of us were :)

Our Maker's works are wonderful.

And again, I can't forget what Albert Einstein said: There are two ways to live your life: One is as though nothing is a miracle. The other is as though everything is a miracle.

luv ya!