My name is Luisa Miniaci-Di Leo. Last October, I turned 63, and each sunrise feels bittersweet because I’ve already outlived my grandmother. I live in Dollard-des-Ormeaux and serve as the Montreal Chapter and Montreal Walk Coordinator for the PKD Foundation of Canada.

My "Why"

Here’s why I took on the role as Chapter Coordinator in spring 2014. Before my dad passed away in December 2013, I discovered there was a Canadian foundation that supported patients with polycystic kidney disease (PKD). I promised my dad I would do something about PKD, and in the months that followed, I met with Jeff Robertson, Executive Director of the PKD Foundation of Canada, to discuss the urgent need to raise awareness.

I became an open book about my disease, and those who didn’t already know were shocked to learn about my diagnosis. Most replied, “But you look great!” - they had no idea what was happening inside me.

I used every social media outlet to talk about PKD, how it had taken away loved ones and affected my life - and the lives of my family - every single day. I began having small conversations about PKD at my old hangout, Café Milano.

Fundraising

From there, I organized our first fundraiser on August 10, 2014, the day after my dad’s birthday, called “A Shoot for The End.” A longtime friend, Vince Morena, waived the hall rental fee, and my bakery, Les Délices Lafrenaie, along with a professional photographer and both my hairstylist Cathy Giannini and makeup artist Stef Wagner, all donated their time to help create beautiful photographic memories and raise funds for PKD research.

I’m blessed to have a loving husband - my rock and cheerleader - who supports my decisions before I even make them. Together, we have two sons who stand by me every step of the way. Without them, my relatives, and my wonderful friends who constantly support my efforts, the Montreal Chapter wouldn’t exist. They show up at meetings, volunteer their talents for our “La Musique Guérit / Music Heals” benefit concert, and even bring colleagues and friends to our annual “Walk to END PKD.” The name “Music Heals” came from my kids - because they’ve seen me blast music every time I get a UTI or a ruptured cyst. They know music helps drown out my pain and the overwhelming thoughts that come with this disease.

Fertility Issues

In my early 30s, I had four miscarriages. Like so many others, I went through a dark period. Because of my upbringing, having children was considered important, and we hoped for three. After my second miscarriage in early ’86, my OB/GYN ordered some blood tests and advised us to wait before trying again. I felt ashamed and hurt by the rumours about my ability to conceive. Some family members even said, “She was fine before she got married.” My husband knew how hard it was for me to smile, so he booked a trip for us to Italy.

In December 1986, ten weeks into my third pregnancy, I was told to go on bed rest. Every day, my husband packed a cooler with food and drinks before heading to work. It was all worth it - because in July 1987, our first son Andrew was born. Andy finally made me a mom! We were over the moon.

After that, I had two more miscarriages, and we were about to give up. My OB/GYN, a high-risk specialist, suggested more testing. I initially refused because I didn’t want to hear bad news, but she explained that if I waited until age 35, I’d need to screen for Down Syndrome. So, we agreed to more tests - but before results came in, we discovered I was pregnant again. That sixth pregnancy brought us Christopher, our second son.

After Christopher’s birth, I was fed up with tests. I told the doctor in the OR, “That’s it. No more tests!” But she responded, “Though you don’t want to know, I still need to know.” Unlike my previous doctor - who for 15 years simply prescribed antibiotics like Cipro for my UTIs and ruptured cysts - this doctor was persistent.

She assembled a team of specialists, and both Peter and I underwent multiple rounds of testing: we saw an infectious disease doctor, an internist, had genetic testing and imaging, and even saw a psychologist. Some family members questioned why Peter needed testing, but we had faith in my doctor. After all, we had two beautiful boys thanks to her.

Unexpected Diagnosis

Testing can be a long and stressful ordeal. From the first blood draw to the final diagnosis, it took nearly 16 months. Like many, I was diagnosed with PKD while doctors were investigating something else - in my case, fertility problems.

When the big day came in 1991, my parents watched the kids while we met the medical team. I was thrilled to hear there was nothing wrong with my reproductive system - until they asked us to sit down. The geneticist asked which of my parents had PKD. I said, “What’s that?”

They explained the symptoms (recurrent UTIs, kidney infections, cyst ruptures, blood in the urine, pain), causes, and prognosis. When they said “genetic” and “hereditary,” my world stopped. I was devastated. I had just become a mother - only to learn I might have passed on a life-altering disease. They assured us PKD wasn’t the cause of my miscarriages, but I still hoped they had made a mistake. Sadly, there are rarely mistakes in genetics.

We cried for an hour in the car. Our kids had a 50% chance of inheriting PKD. Eventually, we pulled ourselves together and went to tell my parents. Peter held Andy, I held Chris, and we teared up. When I told Dad the news and suggested both he and Mom get an ultrasound, he insisted the doctors didn’t know what they were talking about. But we followed through - and found out he did, in fact, have PKD.

Family Connection

It shocked me that he hadn’t been diagnosed earlier, especially since he’d had many medical tests and had been on blood pressure meds for a decade. Not understanding genetics, Dad was crushed. When my son was later diagnosed at 19, he felt even worse. That’s when I learned others in our family - his sister, niece, and more - also had PKD.

While talking to my dad, he mentioned that my grandmother had seven miscarriages, just like me. She died in 1966, and doctors said her body was full of “tumours” on her liver and kidneys. That’s when I realized she, too, had PKD - it had just never been diagnosed.

In late 1991, Dad and I were referred to a nephrologist. The first thing he said was, “If your grandmother lived to 61, then you’ll live to 61 too.” Wow. Talk about lacking bedside manners. At that time, Dad’s GFR was still good. But in the fall of 2013, at age 84, he became ill and rapidly went into total organ failure, starting with his kidneys.

While caring for him, I searched his medications online and came across the PKD Foundation of Canada. I got excited and told Dad I wanted to get involved. He told me to focus on myself and my son, but I told him I was calling the Foundation anyway. He just smiled and said, “You’ve always been stubborn. Once you put your mind to something, nothing can stop you.”

We buried Dad on December 21, 2013. In lieu of flowers, people made donations to the Foundation. After he died, I opened up about PKD. I met with Jeff Robertson on March 15, 2014, and by later that year we had our first fundraiser, “A Shoot for The End.” That day, I missed my dad so much. We were always the first ones on the dance floor. He was the life of the party, always cracking jokes. I especially miss him now that I’ve surpassed my grandmother’s age.

My PKD Progresses

I’ve had to accept many changes in my body. Sometimes I joke that PKD gives me an excuse to buy new clothes, because my body no longer fits them right. My top and bottom sizes differ by several numbers. Bra extenders have saved me - I no longer feel tightness around my diaphragm and liver.

Like many patients, I don’t love looking in the mirror. My once-long, thin legs are now swollen and veiny from water retention and added weight. My joints ache from osteoarthritis. I still get UTIs and ruptured cysts. My big liver compresses my diaphragm, making me prone to pneumonia. With my kidneys functioning at just 35%, I’ve developed hyperparathyroidism. My bone specialist now has me taking 20,000 IU of vitamin D weekly. My right kidney is 29x20 cm, and thankfully, my left is smaller - 17x14 cm.

PKD affects my liver and gallbladder too. My liver is so large it’s growing upward. It has cysts the size of oranges, some near the portal vein. This causes reflux and digestive issues. I had a cyst de-roofing procedure 12 years ago, draining seven cysts - each the size of a kiwi.

I live with constant pain. Even basic tasks like trimming toenails, tying shoes, or putting on pantyhose feel like my ribs are crushing my liver. When I do manage to get pantyhose on, I slit the elastic because it’s too tight on my stomach.

As I write this, I’m looking out at the garden “oasis” my husband built. It makes me sad - I can’t tend to it like I used to. Every spring, he waits for my instructions about what to pull or trim. I even lost my title as “Vacuum Queen” - it’s just too painful. I use pain meds a few times a week to sleep. This Italian-Canadian girl doesn’t do naps!

Coping with PKD

I’ve changed my diet and cut back on stress to help with my mental health. I cut out salt five years ago, though I still crave vinegar chips. I’ve lowered my protein and upped my fruit and veggie intake. My water bottle is always with me, and if my family doesn’t see it, they bring it. I walk daily to keep my blood flowing and blood pressure stable.

I also speak about PKD in many of Montreal’s ethnic communities - Argentinian, Chinese, Greek, Hindu, Italian, Portuguese, and Muslim - thanks to friends and their connections. They understand what PKD is and have supported our fundraisers.

Even though I know I shouldn’t feel guilty about passing PKD to my son, I still do. If I’d stopped after Andy, I wouldn’t be doing this work. Andy doesn’t have PKD - but we had Chris because we didn’t want Andy to grow up alone. And it’s Chris who keeps me fighting for a better future. I’m trying to show him that having PKD doesn’t mean giving up. Yes, there are bad days. But in between, there are days where you can truly make life count. The stigma and shame of illness? It’s gone.

When people ask why I stay so busy, I say, “My clock ticks faster than yours.” A part of me is grateful for PKD - it introduced me to amazing, inspiring people who’ve supported me through my own health battles. Like Helen Keller said, “Alone we can do so little; together we can do so much.”

Cheers, Dad!

 - Luisa

Luisa shared an update to her Voices of PKD story with us in late 2022. You can read that story here.

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