Genetic Testing after Cystic Fibrosis | The Family Making Stories

The journey to make a family is different for everyone, so to show the amazing diversity, brave women, men and couples are sharing in this new series “My Hope Squad Stories”.

Together, we need to change how others view the diversity in making families. To let them know it’s something beautiful, and if they are looking at their own options, they are’t alone. The Hope Squad have got their back.

Today’s story focuses on the affects of Cystic Fibrosis and one families decision to add to their family after such a difficult diagnosis…

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Our journey begins Valentine’s Day 2015 with the birth of our daughter Camille.

It was 2 weeks later we got a call from the genetics department of sick kids hospital to say we needed to come in for some further testing. Camille’s heel prick test had come back with markers for Cystic Fibrosis. This was confirmed by a sweat test 48 hours later.

It was about 18 months later that we started to talk about having another child. Right now Camille is a wonderfully healthy 3 year old, but we know that could change at any minute. We have done daily chest percussion which lasts about an hour, sometimes longer if she is sick, without fail since she was 4 weeks old. This hasn’t always been easy. Sometimes it took both myself and my husband to pin her down to get it done and there were a lot of tears and frustrations along the way. There’s also the worry of taking her to a park, taking her anywhere really that might result in her picking up some sort of bacteria that sticks in her lungs. Being around friends or family that are sick is a worry. It has been a strain on our marriage and our family relations. It has impacted everything we do in our life. For this reason, and many others, we decided if we’re going to have another child, we wanted to do our absolute best to ensure that child did not have Cystic Fibrosis.

In order to do this, we would have to go through IVF. We didn’t have any fertility issues that we knew of, but the Genetic screening goes hand in hand with IVF. We went to a few clinics to talk about our options and what our time frame was. The Government of the province we live in just introduced free funding for one cycle of IVF. The wait lists we were told were about 2 years. So we signed our selves up straight away. The pre implantation genetic screening would be $3000 and the pre implantation genetic diagnosis would be $5000. The drug costs would be about $5000, but thankfully the government would cover the $10,000 for the IVF.

We waited and in May 2017, we were told it was our turn. Much quicker than we were expecting. We were in the throws of the terrible twos!

I started that summer and we ended up with 9 eggs collected. 5 made it to day 5 blastocyst stage and were sent off for the PGD and PGS testing. The results came back a couple of weeks later. One was PGD & PGS normal. One had something happen called recombination, so they couldn’t tell if it was affected with Cystic Fibrosis or not, but it was chromosomally normal. The other embryos were chromosomally abnormal.

 

We began the cycle for our frozen embryo transfer of the one egg which was “good” in October 2017. The day before our transfer I got a crazy 24 hour stomach bug and we had to cancel the transfer. We were travelling to family for Christmas so we put off trying again until we came back.

 

Our second attempt started in January 2018 and on February 22nd 2018 we had our embryo transferred. 10 days later we got a positive pregnancy test. We felt so lucky. The chances of the first one taking are so slim. We told all our family & friends. We were just so happy.

 

I went for our first ultrasound about 2 weeks later. It was not good news. I was 6 weeks and 4 days pregnant at this point and they should have seen a heartbeat. There wasn’t one. We were told to come back one week later. The waiting was horrible. I have never googled so much before. I kept thinking maybe the measurements and timeline were just off. We went back and the Dr told us there was now an embryo. Still no heartbeat but there had been growth and for some reason I was measuring a week behind where I should be. They couldn’t say definitively so more waiting. This time we felt a bit of hope. The fact that there had been some growth. We clung on to that. However, after another week of waiting the ultrasound showed no more growth, no heartbeat. I was scheduled for a d&c the following week.

We are waiting now to see what comes back from the biopsy of the embryo after the d & c. Our Dr told us genetically screened embryos don’t do this. They don’t implant, stop growing, grow a little and stop. His only theory is that the embryo was actually abnormal. There’s less than a 1% chance of this happening. At least we would have a reason for it failing.

We have to decide whether or not to implant the unknown genetic status embryo and have that one tested in utero, or start another cycle. It’s just such a huge financial burden. But I lean towards this rather than the huge emotional burden transferring an embryo that potentially has Cystic Fibrosis.

I have been sharing our story on instagram and i think it has helped me massively. It’s been very cathartic to just put it all out there. I hope it helps someone maybe going through something similar. Going forward I feel positive. We are very lucky to have Camille. She’s made getting on with everything easier. Getting her diagnosis was crushing and I think that has made us able to cope better with what life can throw at you. Despite the challenges Camille’s condition presents, she’s completely wonderful and I think that whatever happens down the road with future IVF attempts we are very fortunate and I always try and keep that in mind.

Click here for more brave and diverse stories from My Hope Squad

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