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How peer support helps patients and families manage a rare disease

Dad watching sleeping boy in hospital bed
Written by Paul Taylor

Question: My son has a host of health problems and is also developmentally delayed.  One of the doctors who examined him thinks he has a rare genetic disorder. What can we expect going forward?

Answer: In recent years, major advances have been made in identifying the causes of rare diseases, thanks to a huge drop in the cost of doing genome sequencing – from millions of dollars per individual to just $1,500.

There are an estimated 7,000 rare diseases linked to mutations in the genome, which includes all of a person’s inherited genetic instructions encoded in DNA.

The World Health Organization defines a rare disease as one that strikes less than one out of every 2,000 people. But some are ultra rare, affecting only a handful of people in the entire world.

Patients suspected of having a genetic disorder are usually sent to a geneticist who will order tests based on their symptoms and appearance.

If these tests don’t provide any answers, the geneticist may seek the help of Care4Rare Canada, a national research network led out of the Children’s Hospital of Eastern Ontario Research Institute in Ottawa.

In certain cases, Care4Rare will arrange for the patient to undergo genome-wide sequencing, in an attempt to identify mutations in any one of the 20,000 genes responsible for producing proteins.

“This method will diagnose anywhere from 25 to 40 per cent of patients in which we have a high suspicion of a genetic disease,” says Taila Hartley, operations director at Care4Rare.

“That’s game changing for the rare-disease community,” she adds, noting that many patients go years without any idea of what is causing their clinical symptoms.

For those who remain undiagnosed, Care4Rare may use newer technologies to examine both the genome and its RNA output.

Being able to put a name to a disorder can provide some comfort to patients and families, says Dr. Alex MacKenzie, a former co-lead of Care4Rare and professor of medicine at the University of Ottawa.

But, unfortunately, a name alone doesn’t automatically lead to a clear treatment path, he says.

That’s because doctors still don’t know how to fix most of these genetic conditions although it’s hoped that more research will eventually produce new and innovative therapies.

For now at least, patients and their family members “have to live our lives as best we can” says Isabel Jordan, the chair of the Rare Disease Foundation.

“People with rare diseases can get lost in the cracks of the health-care and social-service systems,” says Ms. Jordan, whose son Zachary was diagnosed with a rare connective-tissue disorder called Ehlers-Danlos Syndrome.

They often go from specialist to specialist seeking help for inscrutable symptoms and frequently end up in hospital emergency departments.

However, she says, patients and families can benefit from sharing their experiences and passing on the knowledge they’ve gained through trial and error.

The Rare Disease Foundation helps groups set up local resource networks in communities across Canada. “You might not have someone with the same rare disease near you, but there are people with other rare diseases all around us,” she explains. “The things they’ve learned can help everyone have a better experience.”

After all, sharing tips can make a big difference. Ms. Jordan notes that, under certain circumstances, a companion of a disabled person can fly for free on some domestic airlines.

“No one at an airline is volunteering that information, even when you show up at the check-in with a loved one in a wheel-chair,” says Ms. Jordan. She says that she took many flights with her disabled son before a family member of a rare-disease patient told her that she was eligible for a discount.

Julie Drury, chair of Ontario’s Patient and Family Advisory Council, agrees that peer support is crucial.

Ms. Drury lost her eight-year-old daughter, Kate, to a rare disease affecting mitochondria – the power centres within the body’s cells.

“When you have a child who has a rare or undiagnosed disease you really have to become the quarterback for their care,” says Ms. Drury.

She offers the following advice to families:

  • Keep notes of your child’s symptoms and what happens at medical appointments. “You can only absorb so much at any one time. With notes, you will be able to reflect back accurately.”
  • Ask a member of the medical team to write a detailed summary of the condition.  This document can then be used if the patient has to visit an emergency department and electronic medical records are not available.
  • Don’t rush into treatment decisions. “You really need to weigh advice thoughtfully.” Seek second and even third opinions from other health-care providers.
  • Take care of your own health. Dealing with a rare disease is extremely stressful and puts pressure on marriages and siblings. “Families need to be aware they may experience medical PTSD (Post Traumatic Stress Disorder).”

Ms. Drury says it’s important to build support networks. For instance, social workers – who are employed by many hospitals and public agencies – can often lend a hand.

“They understand the system and can help connect you to the appropriate community resources – and lobby on your behalf,” says Lina Gagliardi, professional leader for social work at Sunnybrook Health Sciences Centre in Toronto.

“You learn as you go and look for allies along the way,” says Ms. Drury.


About the author


Paul Taylor

Paul Taylor, Sunnybrook’s Patient Navigation Advisor, provides advice and answers questions from patients and their families, relying heavily on medical and health experts. Email your questions to AskPaul@sunnybrook.ca
and follow me on Twitter @epaultaylor