Voices of PKD: Luisa Miniaci-Di Leo, Dollard-des-Ormeaux QC
My name is Luisa Miniaci-Di Leo. Last October I turned 63, and each sunrise makes me feel bittersweet because I have already outlived my grandmother. I’m a resident of Dollard Des Ormeaux, and Montreal Chapter and Walk Coordinator for the PKD Foundation of Canada. Here’s why I took on the role as Chapter Coordinator in spring 2014. Prior to losing my dad in December 2013, I learned that there was a Canadian Foundation that existed and supports patients with polycystic kidney disease (PKD). I promised him that I was going to do something about PKD, and the following spring I met with Jeff Robertson (Executive Director, PKD Foundation of Canada) in Montreal to discuss the need to raise awareness. I became an open book about my disease, and those who didn’t know were shocked to learn about my diagnosis. Most replied, “But you look great”. They had no clue about what was going on inside of me. I used every social media outlet to talk about this disease, how it took away the ones I loved, affected my life and that of my loved ones on a daily basis. I soon started having small discussions about PKD at my old hangout, Cafe Milano. From there, I organized our first fundraiser on August 10, 2014, the day after dad’s birthday, called “A Shoot for The End”. A longtime friend, Vince Morena, waved the fees for using his small hall, my bakery - Les Delices Lafrenaie, a professional photographer, and both my hair stylist - Cathy Giannini, and makeup artist - Stef Wagner donated their time that day to help create beautiful photographic memories and help raise funds for research towards a cure for PKD.
I'm blessed to have a loving husband (my cheerleader and rock), who agrees with all of my decisions before I even make them, and together we have 2 sons who stand by their mom every step of the way. Without them, my relatives, and my wonderful friends who constantly support my efforts to raise awareness and funds, the Montreal Chapter could not exist. They’re always present at my meetings, volunteer their talent during the “La Musique Guérit/Music Heals” benefit concert, and even invite colleagues and friends to partake in our annual “Walk to END PKD”. The name “La Musique Guérit/Music Heals” came from my kids. Why? Because they’ve seen me blast the stereo each time I get a UTI or when a cyst ruptures. They know how the music therapy drowns my pain and thoughts about living with this disease.
In my early 30’s I had 4 miscarriages. Like so many who go through this, I entered a dark period in my life. Due to my upbringing, it was considered important to have children, and we wanted to have 3. After my second miscarriage in early ‘86, my OB/Gyn requested some blood tests and suggested I wait before trying again. I felt shame and was hurt by rumors about not being able to conceive. Some family members even said “she was fine before her marriage". My husband knew how hard it was for me to smile, so shortly after he booked a trip for us to visit Italy.
In December 1986, I was 10 weeks into my third pregnancy and was told that the best thing for me was bed rest. Each day, my husband would prepare a cooler bag with ice packs before leaving for work and would fill it up with a variety of food and beverages. The time spent lying down was all worth it because in July of ’87, my first son Andrew was born. Andy finally made me a mom! We were on top of the world. Following Andy, I had 2 more miscarriages and we were about to give up. My Ob/Gyn was a high risk specialist and suggested we do more testing. I refused because I wanted to have another child, but then she explained that by waiting until the age of 35 it would mean I would need to screen for Down Syndrome. So we agreed to start doing some more tests. Prior to getting those results, we discovered I was pregnant again. With my 6th pregnancy came Christopher, our second son.
After the birth of my sons, I was fed up with being poked so I explained to the doctor in the operating room - “That’s it, no more tests!”. Only then I realized that I’m not the only stubborn human being on this planet, because my doctor said, “Though you don’t want to know, I still need to know”. Unlike my past family doctor, who for 15 years simply prescribed antibiotics like Cipro for my numerous UTI’s and ruptured cysts, I’m grateful to this doctor for being persistent in trying to figure out what was going on inside. She put together a team of doctors and each made me and my husband undergo several tests. We were examined by an infectious disease doctor, an internist, underwent genetic testing, had imaging, and even saw a psychologist. As both of us had to endure multiple testing, some family members even questioned why Peter had to be tested. No matter, we carried on because we had faith in my doctor. After all, it was thanks to her recommendation that we now have 2 boys.
As you know, going for tests can be a long and stressful ordeal and you keep wondering what the results will be. From the first draw of blood to the day they told us what was really wrong was close to 16 months. Like so many others who get diagnosed with while investigating other medical issues, I was diagnosed with PKD while investigating my fertility problem.
When the big day came in 1991, my parents looked after the kids while we met the team. We were still standing when they said that there was nothing wrong with my reproductive system. I was so happy, until they told us to sit down. The geneticist asked which of my parents had polycystic kidney disease and I responded by asking, “What’s that?”. We listened to the explanations about the disease, discussed my symptoms (repetitive UTI’s, multiple kidney infections, cysts rupturing, blood in urine, pain), what causes PKD, and the prognosis. When they said, it's “genetic" and “hereditary", my world came to a standstill. I was devastated hearing those 2 words. I finally had children and then discovered what I could have possibly passed onto them. After asking whether PKD was the cause of my miscarriages, we were told it had nothing to do with it. I was really hoping there was a mistake somewhere, but as we know, there are rarely mistakes made in the field of genetics.
We both spent the next hour crying in the car. We just couldn’t believe that our kids had a 50% chance of inheriting this disease. We then built up the courage and drove to tell my parents. Peter held Andy and I held Chris, and we started tearing up. Dad asked me what was going on, so I told him the news and that he and my mom should each get an ultrasound to see if either of them had the disease. Dad was upset and said the doctors didn’t know what they were talking about, so I repeated what the geneticists told me. Shortly after, we discovered my dad did in fact have PKD. I struggled trying to understand why he had not been diagnosed sooner, given that there had undergone multiple tests for other matters in the past, and had been taking blood pressure meds for 10 years. Not understanding the complexities of genetics, my father was very upset and felt guilty that he passed this on to me. Once my son got diagnosed as well at the age of 19, he felt horrible. Following dad’s diagnosis, I learned that his sister, niece, and others in the family had PKD as well.
While talking to dad about my grandma, he mentioned she had experienced similar fertility issues to what I had endured. He told me that she had 7 miscarriages over the years. He also told me that when she died in 1966, doctors told the family that she was full of “tumours” on her liver and kidneys. At that moment, I realized that my grandmother and namesake had PKD as well, and that it was never diagnosed because it wasn’t really known about back then.
In late ‘91, dad and I got referred to a Nephrologist, and when we first met him he said flatly, “If your grandmother lived to 61, then you’ll live to 61 too!”. Wow… Talk about a lack of bedside manners. At the time, dad’s GFR (glomular filtration rate) was very good, but unfortunately he fell ill in the Fall of 2013 at the age of 84, and quickly fell into total organ failure - starting from his kidneys.
While I tended to him and looked up the meds they were giving him, I came across the PKD Foundation of Canada online. I got excited and told him there was a Foundation just for our disease and that I was going to get involved. Well, as a concerned parent he said I should take care of myself and my son first and foremost. I answered him by saying that no matter what he said, I was going to call the Foundation. His reply was, “You’ve always been stubborn and when you put your mind to something, nothing can change it.”.
We buried dad on December 21 in 2013, and those who had come to pay their respects were given to make memorial donations to the Foundation. After dad died, I opened up to everyone about PKD. On March 15, 2014, I met with Jeff Robertson and later that year, we had our first fundraiser “A Shoot for The End”. That day, I really missed dad and thought a lot about how we were always the first ones on the dance floor at any party. He was the life of the party and always cracking jokes. I also miss the fact that he wasn’t there when I surpassed my grandmothers' age.
I've had to embrace many changes with my body over the years. Sometimes I tell people that PKD gives me an excuse to go shopping for clothes because they don’t fit quite perfectly. The sizes of my tops and bottoms differ by multiple numbers. The discovery of bra extenders saved me because I no longer feel the tightness around the diaphragm and liver. Like so many other patients, I don’t like looking in the mirror because it shows how my body is changing. My legs were once very long and thin, but due to water retention they are now swollen and covered by veins due to the extra weight I carry. My joints hurt because I have osteoarthritis, so the extra weight doesn’t help here either. I still have cysts that rupture out of the blue and get UTI’s. I’m prone to getting pneumonia due to my big liver compressing my diaphragm, and since my kidneys are now functioning at at 35%, I’m now dealing with something called Hyperparathyroidism, or HPT. Chronic kidney disease increases your chances of having HTP so my bone metabolism specialist recommended I take 20 000iu/weekly of vitamin D because my kidneys don’t produce the hormone to create the vitamin D that my body needs. My right kidney measures 29cm x 20cm and thankfully my left kidney is smaller, only 17cm x 14cm.
PKD also affects my liver and gall bladder. My liver is quite big and doctors can’t figure how it’s growing upwards. My liver has some big cysts and a few are the size of an orange. Some cysts are near the portal vein to the gall bladder. All this causes acid reflux and digestive issues. A procedure called cyst de-roofing was done 12 years ago for my liver. This entailed draining 7 cysts (each one the size of a kiwi). The constant pain is something I live with, but how PKD has affected my day to day life in other ways is really hard to take. A simple thing like cutting my toe nails, tying my running shoes, and crossing my legs to put on panty hose seems as if my ribs are caving in on my liver, and often leaves me breathless. The word “contortionist" comes to mind when attempting to do these things. If I manage to get the panty hose on, I slit the elastic because it's too tight for my stomach.
As I write this, I look out to the beautiful garden "oasis” that my husband built outside our home. It depresses me because I can no longer tend to it like I used to. Each spring, my dear husband waits for me to guide him on what weeds to pull out and which plants need trimming. I even lost my title as "Vacuum Queen”, as it’s just too hard on me. I’ve been using pain meds a few times a week to help me sleep, because this Italian-Canadian girl doesn’t do naps!
I’ve made many changes in my diet and cut some stress out of my life to help with my mental health and day-to-day journey with PKD. I stopped eating salt 5 years ago, but when that craving for vinegar chips hits me, I regret it! I have decided to cut down my protein intake and increase my fruit and vegetable portions. I have my water bottle with me and when my family doesn’t see me with it, they get it for me. I try to walk every day to keep things circulating and maintain my blood pressure. To keep my mind occupied, I look for ways to raise awareness in the many ethnic communities of Montreal. Thanks to my friends and their connections, I’ve been able to speak to the Argentinian, Chinese, Greek, Hindu, Italian, Portuguese, and Muslim community members. They all understand how PKD doesn’t, and have participated in all of the Montreal Chapter’s fundraisers.
Even though I’m not supposed to feel guilty about passing PKD to my son, I still do. To think that if I would have stopped trying after Andy, I wouldn’t be here raising awareness of PKD because Andy doesn’t have PKD. We wanted to have a second child because we didn’t want Andy to be lonely, so we had Chris. Thanks to Chris, he is keeping me alive and is the reason to fight for a better future. I’m also trying to set an example for Chris in that having a disease like PKD, it doesn’t mean you have to stop living. Yes, you can have really bad days, but in between them there are days where you can really make life count! The stigma and shame associated with having a disease has left the building!!!
When people ask why I keep so busy, I tell them, “My clock ticks faster than yours”. Part of me is happy to have PKD, because it has allowed me to meet such amazing and inspiring individuals. Even though they are facing health battles of their own, they have stood by my side and support me in my journey. These individuals, like the supporters from the business community in my life, believe in Helen Keller’s words, “Alone we can do so little; together we can do so much”.
Luisa shared an update to her Voices of PKD story with us in late 2022. You can read that story here.