Thursday, June 19, 2014

the carrier screening & a big misunderstanding

When it came to the CF carrier screening, we had a couple of choices to make. Larry's CF doctor recommended the carrier test that screened for like 1900 genetic mutations of CF, and she said that generally insurance will not cover it so it would cost us a big chunk of money. Another choice we had was to take a general test that would only find if I carried the most common genetic mutations of CF. This test would probably be covered by insurance. There is no one in my family with CF, so I thought that it would be highly unlikely for me to be a carrier. Then again, there's also no one in Larry's family (other than him) with it either, but obviously both his parents are carriers, hence how he has it.

I kept leaning towards the 2nd one, but Larry and his mom thought that I should do the first one just to be sure. We decided to do the first. Larry had an appointment with his CF doctor in Houston, and he brought back the blood test supplies for his mom to draw my blood for me (she is a nurse). We had to do the test during the day, so that she could bring my sample to fedex it to California. She met me at work, and she drew my blood in my car. We don't have a private bathroom at work or anything, so I decided it'd be best to just go ahead and do it in my car lol. I'll let you know that I have passed out a few times from shots and having my blood taken before. I'm not scared of the needle at all, it just get woosey I guess! Well, I definitely started feeling nauseated while she started! Thank GOD I did not pass out on her. After I sat there a few minutes I was fine, and I was able to go back in to work. My mother in law took the blood to fedex and off it went. Two days later I received a call confirming that it made it to Cali and I authorized them to go ahead with the test. I also found out that my insurance was going to cover 80% of the test- yay!

The blood test would take up to 6-8 weeks for the results. They would first run it for the most common CF genes and then so on. So, if it came back that I was a carrier for one of the most common, we'd know within a week or so. We made an appointment with a different fertility doctor (closer to us and better success rates) and we were really hoping to have the results before then so we wouldn't be playing another "IF you're a carrier game" like we did with the last doctor

A few weeks went by, and to be honest, I kind of forgot about the test. Time seemed to be going by very quickly and I was very at ease with everything. Finally, my mom and mother in law were asking about the test, so I thought maybe I should call and check to see how much longer until we get the results. I didn't have the phone number to the center we sent by blood to, so I called Larry's CF doc to get the phone number. When I called, I had to leave a message, and they said that she'd call me back. 

Our appointment with our fertility doctor, Dr. Storment, was on Wednesday May 15th, and Larry's doc called me on Monday the 13th, just 2 days before. I thought she was calling me back about the phone number, but she actually had my results. I was at work and I saw a Houston number calling me, so I walked out of the office to answer it. She started talking about my results using all these medical terms that I did not understand, and all I heard was something about our children having CF symptoms and possible CAVD (like Larry). I guess it's because I was a business major in college and I don't like anything to do with the medical field, but I swear I had no idea what she was saying. I stopped her in her tracks and asked, "wait... so AM I a carrier or not?" She said yes. I really have no idea how the rest of the conversation went other than her mentioning something about us seeing a genetic counselor. I was able to hold back the tears until I called Larry and told him the news. It was SO hard. 

It was a busy day at work so I had to get back to my desk. The hardest part was trying not to cry and still sounding happy on the phone to my customers. Larry and I decided to meet up for lunch at Quizno's. Both of us red and teary eyed with so much confusion as to why this was. We both knew that we wanted to have children, but with me being a carrier, we'd have a 50% chance of a child with CF. We sat in Larry's car and even started drawing out the punnett square (surprisingly these 2 business majors remember something from biology) to make sure we were right.

(CF is a recessive gene. RR= not a carrier Rr= carrier of CF  rr= CF)

There were so many emotions going through us both. Are we still supposed to go through with IVF? CAN we go through with it? People with CF aren't really supposed to be around each other because they carry bacteria that they can pass to one another and make each other sick. So how would that work with father and baby with CF?

I called my mom and told her the news when I got home from work. It hurt worse to say it out loud again. I won't go into anymore details of the cry fest I pretty much had the rest of the night. Something about me has just become such an emotional person lately! I prayed all evening and all night for answers and guidance from God. After all, it's ALL about Him.

The next day, I called Larry's doctor's office to get them to email me which mutation I had so that we could tell our fertility doctor the next day. I talked to the nurse and when asked which mutation I carrier, and she told me some pretty shocking news...

Turns out I AM NOT a carrier of a CF gene. I guess it was a bigggg misunderstanding when I talked to Larry's doctor. I am only a carrier of a variant of CF. It's really confusing to explain. Pretty much, it could cause our children to possibly have CF symptoms (stuff like asthma-like symptoms and CAVD), but they couldn't actually have CF! Ohhhhh the relief to hear that! We still plan to see a geneticist to learn more about it, but to know that our kids could not actually have CF was the best news.


  1. Oh my gosh, Doctors can be the worst! Such a blessing you're not a true carrier. I'll be praying for you guys as you go through this journey.

  2. Danielle,
    I was seriously crying at work when I saw that you were a carrier, then crying tears of joy when I saw that it was a misunderstanding. One of my close friends growing up has CF and so it is something close to my heart. Seeing him live a happy and full life that the dr.'s said he'd never have makes me thank God. I am so happy for you both and I can't wait to hear more about your journey through this.

  3. What courage you have to share this part of your life! You have already shown your strength in this phase of the jouney! I will keep you in prayer as you continue. God is so good!