A dozen years ago, Judi and I were two mums who shared a school run for our boys. Our biggest worry then, was when to give up the drive and allow our two fifth graders Michael and Sam to take the train.
At their first sleepover, we shared that each of our sons had polycystic kidney disease, known as PKD. Michael has ARPKD, which affects one in 20,000 births. Because it’s a recessive disorder there was no sign of it in earlier generations. ARPKD children like Michael, need continuous treatment from birth and before long Judi will be his kidney donor. My Sam, like his 3 siblings has ADPKD. He had a 50% chance of inheriting the gene from his father Michael senior, who was then aged 53 and starting dialysis.
Back then, when our kids were young and still at school, we hoped for some kind of miracle to hold back the future choice of dialysis or transplantation; two mums’ ferocious love compressed into a wordless background hum of constant worry. We imagined raising money for research. Supporting some already established group.
Five years later, the unexpected death of my husband Michael changed the whole picture. That background hum got into the ear of friends who put those worries into words. They went looking for a research project and committed to support a PhD student for 3 years.
Now a group of 3 families, we talked to doctors and the research team at Westmead Hospital in Sydney. We learned there were patient support groups in Europe, Japan, Canada, the US and UK, but nothing in Australia.
It worries us that unless you know someone with PKD, you’ve never heard of it, yet it affects up to 1 in 400 people. That’s around 6,000 Australian families and 12 million people worldwide just like us, juggling life-work responsibilities, desire for privacy and worry about stigma.
Since launching the PKD Foundation 3 years ago, we’ve connected with clinicians, researchers, held patient Seminars in most capital cities and raised and distributed seed-grants for 8 research projects selected by our Scientific Advisory Board. Our three families are all volunteers.
People we’ve met at Seminars tell us PKD isn’t something they can often talk about, “it’s the elephant in the room.” They tell us of their dread of having things turn out as they did for a parent. Of fear for one’s self. And guilt. Especially guilt: for passing it on to children and grandchildren. And we’ve cried that for too long, this medical story has remained unchanged and hopeless.
We’ve heard a drug to inhibit cyst growth is available overseas. Advances in Genomic Medicine mean that the genes for PKD have been identified and located and it will soon be possible to avoid passing on PKD via embryo selection through IVF. For us this is an awesome possibility. It’s worth making friends with the elephant in the room. Suddenly, it’s a better time for PKD families.
Judi and I have decided to name the elephant, Hope. It needs support.