In November 2010, Carole Elkhal and her husband Marco Del Cane waited anxiously at the Montreal Children’s Hospital. Something was wrong with their three-month-old daughter Giulianna. She could not feed and lacked muscle strength. But what was it? They feared the worst. After 26 days in hospital with their daughter, they were sent home without an answer. They pushed ahead. Finally, on January 31, 2011, a geneticist gave them a diagnosis without hope. Giulianna had Prader-Willi syndrome (PWS), a rare disease caused by a genetic defect in chromosome 15.
“I just wanted my daughter to be able to say I love you.” – Marco Del Cane
Left on their own
They learned that PWS has no cure. The news hit them hard. “For a parent, it had a huge impact,” says Carole. “But basically they had nothing more to give us.”
They left the hospital only with a list of possible symptoms. The most dramatic is insatiable hunger. Most people with PWS are not able to control their food intake. Other symptoms include low muscle tone, short stature, small hands and feet, sleep disturbances, cognitive disabilities, obsessive-compulsive disorder, difficulty in controlling emotion, and more.
They were left on their own without any hope on the horizon. The first week was very tough. Carole turned to the Internet to find hope and support. But using Google as a reference can be very scary.
“I cried all the tears in my body. I didn’t sleep for a week. It felt like our life was over.” – Carole Elkhal, Community Director for Prader-Willi Canada
Fighting for growth hormones
The Internet led the family to the Foundation for Prader-Wili Research (FPWR). There, they learned that growth hormones can help children with PWS greatly. Human growth hormones (HGH) improve muscle tone and help to delay insatiable hunger, which starts at about 8 years old compared to 2 years old in children who are not on HGH. Children in treatment are more aware, and their intellectual disability may improve from medium or severe to light or normal. With HGH therapy, available since 1994, most children with PWS grow up with normal feet and hands.
Inequalities in Canada
In the USA, the FDA has approved HGH for treatment of PWS. However, Health Canada considers HGH as an exceptional drug. Children in most provinces must endure painful diagnostic testing to qualify for reimbursement of treatment costs. Only Ontario, in 2020, after lots of advocacy work from FPWR Canada, covers treatment costs for children with PWS under 18 years of age without the need for painful tests.
That’s not all. In all provinces, families have to fight for diagnostic testing. Most PWS babies stop producing HGH around the age of one. But most endocrinologists won’t test them before the age of two.
“Most parents have to fight to get the test done.” – Carole Elkhal Community Director for Prader Willi Canada
A new career path
In 2014, Carole Elkhal became a Community Director for the PWS Canada Foundation. Today, she gives hope to parents of children with PWS in their darkest hour. The foundation fights on behalf of Canadian families for equal access to growth hormones.
“It is the best feeling when a mother says thank you,” says Carole. “My hope for every call is that when I hang-up, parents can sleep at night. They know that there’s hope for the future. They feel like the little blurb of a child in front of them, who doesn’t move, will become somebody they’re going to love. It helps them connect to their child.”
Then she tells them about her amazing daughter Giulianna, who speaks French, English, Arabic and Italian.
“My daughter can say I love you, and she gives the best hugs.”-Carole Elkhal Community Director for Prader Willi Canada
To help children with PWS, sign our petition. A national strategy for rare diseases will help families to access therapies and obtain more support after diagnosis.
Learn more about Prader-Willi Syndrome (PWS)
Foundation for Prader Willi Research Canada, here.
Facts (PWS), here.
Growth hormones (HGH), here.
PWS researchers, Theresa V. Strong, Ph.D., Director of Research Programs, FPWR & Rachel Wevrick, Ph.D., Scientific Advisor, FPWR Canada here.
National strategy for rare diseases, here.