The Wild Ride of Genetics

Once the green wore off, it just seems like this pregnancy is sailing along.  The first time everything seems so new and uncertain, so you spend a lot of time thinking and worrying about how everything will turn out.  This time I do have a toddler to keep up with, but the flip side is that I am so much more relaxed.  Doubtless everything is unfolding as it should.  Right?

At our twelve week appointment, our doctor walked us through the many different tests and appointments we have to look forward to (many of them I actually do look forward to because I love reassurance that all is well). Ultra sounds, blood tests, pee tests, the glucose challenge (disgusting!), and all that other fun stuff we remember from last time.  The one thing that has changed is the genetic testing.

When we were expecting the first time, there were three genetic tests available, and only one of them was actually recommended for the general population.  We went with that one, and found that while I do have a risk factor for cystic fibrosis, my husband does not, so we're all in the clear.  Yay!  Does this mean we don't need any genetic tests this round since we already have our info?  Oh  no, in two years things have really changed.

Now the recommended genetic test covers one hundred different mutations known to cause disease.  ONE HUNDRED!  Since this test is one that screens the parents (no amnio required, so no risk) and I'm the sort of person who wants to know, we both trotted off to lab to make a deposit.  In only three weeks we had our answer.

The doctor called me herself, so that scared me from the outset.  Then, over the course of our ten minute call, the toddler managed to fall and bump her head, the neighbor decided to take up loud tree trimming, and the cats got into a huge hissing match.  Oh yes and my cel phone managed to drop the call THREE TIMES.  It was like a bad joke.  In the middle of all that I tried to take in the news that the husband and I are both carriers for something called Alpha-One Antitrypsin Deficiency.  "But don't worry" she said helpfully "you have the S variety."  She gave me the number of a genetic councilor, and that was that.

First I called My Dear Husband (MDH) who was wonderfully calm as he always is about upsetting news.  We then turned to our friend the internet (I know! I know, but can you really tell me you wouldn't have done the same?) to find out more about the condition.  To be brief, the disease consists of having low levels of a protective protein which the body needs to keep tissues safe from harm.  Those who have the severe form can get lung and liver diseases especially if they drink, smoke, or inhale lots of particulate (like in coal mining or living in a very polluted place).  People with the Z type of the mutation can have very low levels of protection, while those with the S type tend to be much less effected.

After doing our research and meeting with the genetic councilor, we felt much better about the situation.  Each of our children has a 1 in 4 chance of inheriting both copies of the bad gene.  Even if they do, most likely they will feel no effects, and if they do, it will probably not be serious.  Of course there is a small chance that they will see something major over the course of their lives, but I'd like to meet the person who faces no risk of illness.

When you read about genetic testing, there is always the question of whether or not it is worth knowing the truth.  Some people would much rather not know anything.  In fact I spoke to one mom (who knew nothing about my story) and she basically said that if you love and accept your baby you will not have any genetic tests done.  I was taken aback to say the least.  Personally I want the facts, so that I can be be prepared for the realities whatever they may be.  In the end, knowing about Alpha-One does not change one single thing, but it does give me the chance to be prepared come what may.