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Monday, November 15, 2010

Are you?

I remember my Obstetrician asking me if I wanted to be tested to see if I was a carrier of Cystic Fibrosis at our first OB appointment. It was an overwhelming appointment. We had our first ultrasound, seen our little bean, been given tons of paperwork and info on pregnancy and birth. She was checking off boxes for my blood work papers that I was to take down to the lab.  I was Caucasian so I fit into the category as a possible carrier.

“Sure, why not? Nobody in my family has it so I know I’m not.” I barely knew what CF was. I only remember Frankie from, The Real World: San Diego having it. Surely, I couldn’t be a carrier. Famous last words.

2 weeks later I was in the parking lot of the mall heading in to do some shopping when my phone rang. It was the nurse practitioner at my OB’s office letting me know that my blood work came back and indeed I was a carrier for CF. I had the most common mutation, DeltaF508. I asked her what this meant and she told me we needed to have Ryan tested to make sure he wasn’t a carrier. I asked her what would happen if he was and she said, “don’t worry. In my six years of doing this, I’ve only had one other couple come up as both being carriers.” Her famous last words.  

They quickly wrote up some paper work for Ryan to be tested and he was sent to the lab for his blood draw. A couple days later, I was working when my phone rang. I could see it was my OB but I couldn’t answer. Ten minutes later Ryan was calling me. I couldn’t answer. He called again five minutes later. At this point I figured I needed to answer. So I did and Ryan informed me that our NP had called to talk to him, telling him he was also a carrier. This was on a Friday and they had already set up an appointment for us to be seen by a genetic counselor on Monday. I couldn’t get Monday off in time so we had to reschedule to Tuesday. We were told to stay off the internet and to be positive.

Tuesday came quickly and Ryan and I met with our genetic counselor. She was fabulous. She was compassionate towards our situation but laid out the facts. My mom was also with us to ask questions that we couldn’t think of and to be a support. Since Ryan and I are both carriers we had a 25% chance of our baby having CF. She told us all about CF and then told us our options. In our hearts we knew we could never have an abortion and quickly asked her to not bring it up again. This was our baby and we were going to keep it no matter what.

We did want to do prenatal testing (and will with future pregnancies) so three weeks later we returned for my amniocentesis. A week and a half later we got the phone call that change our lives.

What is the point of this post? Ryan and I didn’t know we were carriers. Are you?

You can now order testing that comes right to your door. Ambry Genetics has a home kit which you can order here.

If you’re having trouble ordering from the website, figure out which test you want and then call them. If you are a family member you’ll want the 508 First because Ryan and I are both carriers of the DeltaF508 mutation.

4 comments:

  1. Ugh... I remember the "don't worry about it, it's so rare" line from our nurses... I wish they had never said that. I'm sorry my friend. What a painful set of memories to recall. Love you guys.

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  2. When I first found your blog I immediately talked to my boyfriend about CF and genetic testing and decided to get tested before we have children. I also talked to both of my sisters who then in turn had discussions with their boyfriends. I have no idea what it's like to be a mom, especially having a child with CF, but I know you have opened so many eyes to this disease and cause and I thank you for that because you never know when you are going to hear those famous last words...

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  3. What a great post...opening the world's eyes to CF and how you may never know you are carrier...that was us too!

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  4. Agree great post Margaux!

    We have since had family members tested if they have wanted to know. We found out we were carriers when Sophs newborn screening picked it up at 3 weeks. Such a shock!

    Take care

    x

    ReplyDelete

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