Wednesday, June 22, 2011

Genetic Testing

Lately, I've been thinking a lot out Cystic Fibrosis.  We recently just participated in the Great Strides walk for the Cystic Fibrosis Foundation. I walk every year  because my 1st cousin A has Cystic Fibrosis.  Recently, he has been taking the necessary steps to become eligible for the lung transplant list.  He's in the last round of testing and such and he'll be placed on the list soon.

My ex-husband's daughter also has CF. 

My friend high school friend, Linda, also had CF.  She passed away a few years ago -- we'd lost touch, but I heard of her passing through mutal friends.

So, I've been struggling with whether or not I want to get tested to see if I am a carrier for the CF gene.  The test is not covered by my insurance company, unless, of course, I were already pregnant.  In that case, the test would be covered.  (Isn't that a real kick in the panties?)

My cost would be $595.00 out of pocket.  This test would only look for the 23 most common CF mutations.  There are over 1000 CF mutations, so even if I tested negative for the 23 most common ones, I could, still, potentially be a carrier of one of the other 975+ mutations.

If the test comes back positive, I will then need to pay to have my donor tested for another $595.00.  I realize that this is equivalent to roughly 2 vials of sperm and that, overall, this is small potatoes in the land of fertility costs.  But part of me doesn't want to know.

My dad's side of the family has 2 people with Cystic Fibrosis.  One is a very distant cousin, and the other is my first cousin.  A is the son of my dad's sister.  My dad is one of three children.  None of his other siblings have had children with Cystic Fibrosis.  And further to that, my cousin with CF has a brother and none of his 3 children have CF either.  However, because of my family history, I would be slightly more likely to be a carrier than the average white Caucasian who has a 1 in 29 chance of being a carrier.  The gene appears to come from my paternal grandmother's side of the family.  She had 12 (TWELVE!!!) brothers and sisters and they all went on to have more than one child.  Yes, yes, I am from a Catholic, French Canadian, family. (And they love me and my lesbian self no matter what, too!) 

It's not really about the money.  I mean, it is a little because I really just don't have extra cash lying about.  I could use my FSA to cover my test, but I don't think it could be used to cover my donor's test.  The issue is that if I test positive, I will then feel compelled to have him tested. I don't want to lose this donor.  If he and I were both carriers of the CF gene, the child would have a 1 in 4 chance of having Cystic Fibrosis.  I'm not sure how much more  likely I am to be a carrier for the CF gene given my history.  He is a white Caucasian, but he is not of French Canadian descent and he has no familial history of CF on either side, so he is less likely to a carrier than me.

I'm scared.  I am so comfortable with my donor.  I trust implicitly that he would stick to the terms of our agreement.  I trust that he will be thoughtful and respectful in all of the ways that made me want to choose him in the first place.

Generally, I am an overly cautious person.  So, this resistance to have this test done is actually surprising to me.  I'm not a gambler. However, the odds appear to be in my favor.  If you scroll down to the bottom of this page, you will find a chart detailing, statistically speaking, my odds of having  a child with CF or not based on a number of different variables.

My donor currently has a daughter, she does not have CF.

It should be noted that in order for a child to have CF, BOTH parents, or in this case my genes and the donors, would need to contribute one defective gene each.

In a nutshell, if I were married to my donor, would we get tested?  Would it matter? Would we even think about it?  Would we just have children?  I have the unique opportunity to test for this because I theoretically could find another option since I am not emotionally attached to my donor.  Except that I am, just not in the marrying kind of way.  I've been chewing on this one for awhile now and I'm still not sure of what I'm going to do.

What would you do?


  1. like you, i have more than the usual experience with CF, and i would (and did) get tested. my insurance company did pay for it, by the way. if you decide you want to get tested, it might be worth having your doctor write a letter outlining why you should be tested. (my RE did that for my SMA test, which they eventually did agree to cover. they covered CF and fragile X automatically; at least in my state, those get tested the minute you say anything about ttc.)

    i do have a CF mutation -- the same one as my geneticist father, which makes him dorkily proud. there are zero cases in my family that i know about, but that's how probability works, you know? since we used sperm from a bank, we knew the donor had tested negative for 100-ish mutations, but if i were in a known-donor situation, i would absolutely get tested and, since i have a mutation, ask him to get tested. i just don't want to see anyone else with that disease. not all bad things can be avoided, but i believe in steering clear of those that can.

    unlike knowing that you carry a gene for breast cancer or early alzheimer's, knowing you're a cf carrier doesn't mean any creepy advanced knowledge about your own health, only the opportunity to avoid having a child with a terrible disease.

    sorry if that comes across too stridently; of course you must make your own decision, but that's how i would decide.

  2. Thank you so much for the thoughtful reply. (I'm sorry it took me so long to respond. Things have been crazy!) You made a lot of good points, after talking with family and friends, I've decided to get tested. :-) Fingers crossed that I'm not a carrier!

    Sorry to hear CF has touched your life, too.