Children, Families and Genetic Kidney Diseases

Kidney disease can affect people from all ages and all stages of life. Genetics can cause chronic kidney disease and kidney failure, especially in children and adolescents. Some of these diseases can be rare or ultra-rare and can impact the kidneys and other organs. 

In this webinar, a panel of nephrologists, patients, and family members will discuss some of the kidney diseases that run in families such as polycystic kidney disease, or are considered rare such as, Fabry disease, glomerulonephritis, cystinosis and atypical hemolytic-uremic syndrome (aHUS). They will discuss how to have a conversation with your doctor about these diseases, the effects of living with them and some examples of how families advocate for the care and information they need. 

This webinar will be offered in English and French with simultaneous translation available in your language of choice. 
 

Tuesday, December 1st, 2020  -  11:00 AM in Eastern Time

WATCH VIDEO

Presenters:

DRE. MARIE-JOSÉ CLERMONT MD FRCPC

Marie-José Clermont MD FRCPC is a pediatric nephrologist at CHU Sainte-Justine in Montréal, the largest mother and child hospital in Canada. She is mostly involved in kidney transplantation through Quebec-Transplant (Quebec’s Organ Procurement Organization). She is a member of the clinical ethics unit at Sainte-Justine since its inception and is a member of the ethics committee at Quebec Transplant. 

Dr. Clermont is Involved in a pan-hospital transition project for the transition of care of adolescents to adult medicine. 
 

DR. MICHAEL L. WEST BSC MD FRCPC FACP

Dr. West is currently Professor, Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada, past President Canadian Society of Nephrology, Director Nova Scotia Fabry Disease Clinic and principal investigator of the Canadian Fabry Disease Registry, a national study of outcomes in Fabry disease. He has an international reputation as a clinical expert in Fabry disease. 
 

DR. PAUL GOODYER

A graduate of Harvard University, Dr. Goodyer has been Director, Division of Pediatric Nephrology at the Montreal Children’s Hospital since 1998. His research career spans over 20 years with a particular interest in molecular genetics, a research field that focuses on genes as determinants of all life processes.

Author of more than 100 peer-reviewed articles in prestigious journals, Dr. Goodyer is a popular and highly-anticipated speaker at international conferences. He has also played a key role in supervising graduate students and post-doctoral fellows throughout his career.

Patients:

• Mélanie Antoons
  
  
  I am  47  years old today, and I was diagnosed with Alport Syndrome at the age of 15. Kidney failure had already been present in my family for several years but until my diagnosis heredity was not believed to be an issue at the time. 
  
  In 1975, I was 16 months and my sister was 3 years old when the disease struck my father who was then 29 years old. The final finding was end-stage renal failure.   Doctors told my parents that it was not hereditary, so there was no risk for their children. My father required dialysis treatments for 23 years. We learnt much later that my paternal grandmother's mother died of uremia in the 1950s. 
  
  In 1989, in my grade 10, biology course, we were studying the excretory system.  A simple laboratory experiment with my own urine revealed results that made all the difference.  After a few tests and visits to the doctor, and considering the family history, the diagnosis was made. My sister was also tested and confirmed we had Alport Syndrome.   As far as we know, at least 5 generations of our family have been affected. 
• Adrian Francis (Ed) Koning
  
  
  In January 2001 after thinking I either had the stomach flu or diabetes, I went to my family physician. In a matter of a few days, I was informed that my kidneys were nearly shutdown, that my heart was severely damaged, and I could suffer a stroke at any moment! As a result of the kidney biopsy, I was diagnosed with Fabry disease. It is considered an ultra-orphan disease with a frequency as low as 1 in 117,000 people. As such it is very difficult to diagnose. I was 43 back then and was told that I would probably not make it to 50. 
  
  After researching our family medical history, we learned that the longest any of my relatives lived with this disease was 48! Because it is inherited, all my family had to be tested. We discovered that my mother and one of my brothers also had Fabry.  Moreover, the worst part was discovering that there was no treatment or cure.
  
  My wife says that I am 5 years past my expiry date. We laugh a lot and love life. I live as best as I can and live day by day. It has now been over 11 years since my kidney transplant. 
   
• Sandra Kidston
  
  
  In childhood, Sandra enjoyed an outdoor life, full of adventure.  Although she was plagued with bladder infections, Sandra lived a fairly normal childhood, medically.  In 1974, her father succumbed to Polycystic Kidney Disease. At 17 years of age, Sandra married and shortly after had her first son.  
  
  At 24 years of age, she was diagnosed with Polycystic Kidney Disease.  The same disease she watched her father battle. Sandra had a tubal ligation to stop the disease from spreading to the next generation.  Ironically, Sandra had her second son within a year. He has PKD. At 48 years of age, Sandra began 6 years of hemodialysis. Shortly after, her brother Gary passed from PKD.  
  
  In 2012, she received her first and only transplant.  She has since had a double nephrectomy.  The transplanted kidney is functioning at 30 percent. At present, Sandra is enrolled in a Counselling Career (self-enrichment) Program and tutors English at the Public Library.  She has been advocating for patients since 2009. 
• Randall (Randy) Russell
  
  
  In 2012, Randy retired from the Federal Public Service after a wonderful 36-year career in Human Resources Management. Randy was diagnosed with Polycystic Kidney Disease (PKD) at age 29. In September 2017 Randy’s wife, Francine, donated a kidney to him.
  He had the honour of being a guest speaker at the Canadian Society of Nephrology National Meeting in April 2015 and was honoured to receive the Human Touch Award from CCO/ORN for his involvement in person-centred care.

 

The Kidney Foundation, would like to thank our sponsors for making the 2020 Kidney Foundation Webinar Series possible.