I was 19 years old when I learned that, like my Father, I have polycystic kidney disease (PKD). At that time my Father was on dialysis and was hoping for a transplant. When I told my Dad, he wept. I was about to set off on a year abroad and so rationalised the diagnosis as a non-issue that wouldn’t affect me for many years. “And heck, maybe we’ll have a cure by then!”
When I was 23, my father died from a complication of a renal transplant gifted from my mother 8 months prior. He was 57 and my grief felt like drowning. I began to wonder how my then boyfriend (now husband) would cope with a wife with renal failure. What kind of mother would I make from a dialysis machine? Should I even have kids?
Preimplantation Genetic Diagnosis (PGD) is a reproductive technology used alongside In Vitro Fertilisation (IVF) to exclude embryos with an inherited disorder. When I first learned about PGD I thought it was an ethical minefield. I still do. I am concerned by the notion that a life with PKD isn’t worth living. What does the act of selecting out PKD affected embryos say about me, my siblings, my father, his father, and all the other sufferers of PKD? After years of vacillating on the decision my husband and I decided to embark on PGD, seeing it as a sacrifice for our children. A physical, financial and emotional sacrifice that meant my children would not be born onto the sinking ship with me. My quiet, selfish reason was that the decision meant I wouldn’t have to face an affected child asking me why I chose not to do it.
We started the process in June 2016 with a referral from my GP to see a genetic counsellor at the Genetic Services of WA. After a three month wait we sat down with a Genetics Fellow who explained the inheritance pattern of PKD. We learned that there are two genes known to cause autosomal dominant polycystic kidney disease (ADPKD)- PKD1 and PKD2. To be affected by ADPKD a person requires a mistake (mutation) in only one of their two copies of these genes. Meaning that each of our children would have a 1 in 2 chance of having PKD. The first step in PGD is to identify the mistake in one’s DNA so that it can then be identified in an embryo. However, the two genes known to cause ADPKD are large and complex and so genetic testing is not straightforward. For us, this process was completed after 18 months and multiple unsuccessful attempts.
By February 2018 we had finally identified my mutation and were impatient to enter the next stage- to obtain embryos through IVF. Over the next three months the IVF clinic built the test (also known as a “probe”) that would differentiate affected and unaffected embryos and obtained permission to proceed from the Reproductive Technology Council of WA. My husband and I underwent various tests and met with the clinic’s counsellor, embryologist and nurses. I recall the frustration that with each small step forward in the PGD process we graduated to a new team of professionals who I felt didn’t understand our story or our journey so far. It felt like we had been on a conveyor belt but only we knew how long we’d been riding.
In May 2018 we finally commenced IVF treatment. Normally, every month a woman’s ovaries develop several eggs but only one of these becomes fully mature. IVF treatment involves daily injections of hormones which enables a greater number of eggs to be matured. Every second morning I went to the clinic for a blood test and pelvic ultrasound to monitor how my eggs were maturing. After about two weeks I underwent an egg collection, a minor procedure done under twilight sedation where the doctor uses a long needle to collect eggs through the vagina wall. At the same time my husband provided a sperm sample. My eggs were fertilised while I woke in the recovery room. The number of collected eggs was written on my hand- “13”. Over the next six days we waited each day in suspense for the phone call from the clinic to update us on our embryos. With each phone call our numbers diminished. “9 fertilised…6 survived today…four have reached blastocyst stage.” When the embryos reached blastocyst stage (day 5 or 6 after fertilisation) a small biopsy was taken from the outer shell of the embryo and the embryos were frozen.
What follows is one month of waiting for the results of the embryo’s genetic testing. The odds are stacked against you in the PGD process. We were told that for any healthy couple one would expect approximately 50% of embryos to have a genetic abnormality that would mean it was unsuitable for transfer. Throwing PKD into the mix also means that approximately 50% will be affected and be unsuitable for transfer. Unfortunately, luck was not on our side and the first two cycles of IVF did not yield a single suitable embryo.
By this stage I was doing everything to improve our chances. I used up all my sick leave. I underwent regular acupuncture, avoided alcohol and caffeine, meditated and even held my breathe when walking past smokers. Rational thinking went out the window as I was pumped full of hormones and was pinning all our hopes on the success of something almost entirely outside our control. Finally, in May 2019, after almost three years, four egg collections and two embryo transfers, we were pregnant. Our perfect son was born in January this year.
While luck did not fall in our favour, this is not the case for everyone. My brother and his partner started the PGD process in mid-2017, had four PKD free embryos after one IVF cycle and a successful embryo transfer in early 2018, resulting in the delivery of the first child without PKD in our family.
The whole process for my husband and I took three and a half years and was incredibly emotionally draining. It challenged our relationship greatly. Because PGD is not covered by medicare, we were left tens of thousands out of pocket. We were fortunate enough to be able to afford it, but this number is insurmountable to many couples. However, the two babies in the next generation of our family are free of PKD. Happily in the future, neither cousin will ask why PKD exists in one family and not the other. Neither will ask why they have a genetic condition that could have been prevented.
And so for now at least I get to be a normal Mum, free from fear that one day my 19 year old will tell me that he or she also has PKD. I know that my son will not suffer from the tremendous morbidity related to PKD and renal failure. He won’t need dialysis or a transplant. He won’t die unbearably young from a complication of a transplant and he will not have to worry about passing on the disease to his children. The burden of guilt ends with our generation. And who knows, by the time my kidneys fail, perhaps we’ll have a cure.