Ever since I was a little girl, I have known that I wanted children and acted accordingly. For example, I have kept my favorite games and books since childhood so that one day I could share them with my children. I left a partner because he didn’t know when he would want children. When I met my partner in 2019, I told him at the second date that if it worked out between the two of us, we would start our family about a year later.
6 months later, imagine my dismay when I learned that I had severe kidney failure. Even worse, I was told that I would not be able to have a child until I had a kidney transplant. I was completely devastated, so close to my goal, and I often cried myself to sleep.
Many of you are already familiar with our journey so far. For those who don’t know, we created a Gofundme in 2020 to raise $11,000. This was the amount that was needed quickly in order to retrieve as many of my eggs as possible. We didn’t know how long it would take me to be transplanted and if I would still be fertile at that point. To our surprise, we reached our goal in less than a week, and 17 eggs were retrieved in the following months! It felt like hope was possible for our future, and I started believing that it would happen one day.
Subsequently, I started a campaign that lasted 2 years to find a living donor. Every second more kidney failure meant one second less with my future children. I saw this campaign as the only thing I had control over while I was very sick. With almost 20% of my usual energy, I gave all the time I was functional to this research. Finding myself a kidney and educating people about kidney disease was my only job.
Steps since the transplant
In December 2022, I finally received a kidney from my fabulous donor. I thought then that the wait was almost over! I was told that I had to wait a year after the transplant before getting pregnant. I really expected to start the implantations in December 2023. I felt like I could touch it because I thought we were there.
During the years when I was sick, it was decided to add a step before having a child: preimplantation genetic diagnosis, a relatively new process that checks whether embryos have the genes for a particular genetic disease. This will allow us to transfer only healthy embryos that do not have the genes for Polycystic Kidney Disease (PKD). That way, we could make sure that our children don’t have my genetic disease.
Since December 2023, when we should have been able to start the process, I have been running between the three different hospitals that follow us to move forward and become a mother. We started with a first appointment in high-risk pregnancy, then in diabetology (the prednisone that I take as an anti-rejection med makes me diabetic) and finally a phone call in genetics. Everything was going pretty well in the first month and was encouraging!
Unfortunately, starting January 2024, things started to get complicated. For the Genetics, I had multiple blood tests. The geneticist didn’t want to give me a medical request on which the precise blood test to be done would be recorded if she hadn’t seen me. She also wouldn’t give us the names of the tests needed, saying that my other doctors would know about them. Thanks to that, Genetics warned us that I hadn’t passed the right test three times in a row. Each test took 2 months to get the results, so 6 months lost for nothing.
Finally, I took an appointment in Genetics to take the blood test directly. To top it all off, I never saw the doctor who refused to make the request. Once there, I simply took the blood test, and went back home, an hour and a half away. A 6 months lost in this process, for a doctor I never saw in the end. It was super frustrating and a waste of time, and I still don’t understand why it happened.
The results of the test were finally received in the fall of 2024. I have the genes for both dominant and recessive versions of PKD. The jack-pot, you could say! Thierry, my partner, then had to undergo tests to check if he was a carrier of the genes. Two months later, we learned that he doesn’t have any of the genes for PKD, and that we can now really start preimplantation genetic diagnosis.
Preimplantation genetic diagnosis
In the meantime, it has become known that preimplantation screening testing could be paid for by the government, but only if a special committee approves it. After following up with one of my nurses in October 2024, I learned that my case would go before the committee in November. Quickly, I wrote a letter to the committee to make our points. In order not to miss my shot, I took the time to do my research on the acceptance criterias in order to be as convincing as possible.
In mid-December 2024, I learned with great joy that our file had gone before the committee AND THAT IT HAD BEEN ACCEPTED! This is the first time in Quebec that a kidney transplant recipient with PKD will be able to have preimplantation genetic diagnosis for free, which sets a precedent for the next men and women who will experience the same thing. The government agrees to pay for the test, in order to avoid having to take care of sick children who will cost the state much more in the future.
Since then, I have been waiting for a callback. I called the nurse in charge of my file more than a month ago, who called the other hospital, who told her that they were waiting to make a decision on where the test would take place.
Finally, last week, I contacted my genetic counsellor directly to see where we were. Of course, my partner and I had two consent forms to sign, which no one had told us about despite the many calls. They were signed quickly and sent back, and I’m expecting news this week from genetics.
In short
I naively thought that the difficult part would be to find a kidney, but I had underestimated the difficulty of moving forward with a file requiring the collaboration of 3 hospitals in two different regions.
No one is used to a kidney transplant recipient with PKD who wants to have children. Even less so to one who takes steps to stop the progression of her disease in her family tree.
There is no cure for PKD, but this way, PKD will stop with me in my family. I’m the only child of my father who has the disease, and it stops there. This choice costs me years, but I want so badly to give my children the best life possible. The wait is worth it, but I have to remind myself of it frequently
I’ve been waiting for this child for 5 years, and I’ve been hoping for them all my life. I hope we’ll get there soon!
Judith – The PKD Warrior
