People living with rare diseases can have a difficult time finding accurate information and effective treatments. It’s even harder if they don’t have a diagnosis.
The new Undiagnosed Disease Program is the first of its kind in Alberta with the goal of diagnosing unexplained genetic disorders in children. University of Alberta researchers in medical genetics and pediatric neurology will use the latest techniques in genetic testing to help solve medical mysteries for families.
“A lot of these folks right now… we’ve used the tests on them, we can’t detect what they have and so they up in what we call a ‘diagnostic odyssey,’” said Dr. Peter Kannu, chair of the U of A’s Department of Medical Genetics.
The initiative is exciting news for families such as the Wittkes in Sherwood Park. Their youngest daughter Mackenzee is nearly 13 years old, but she still looks like a toddler.
Her rare genetic condition has never been diagnosed.
“It has been kind of a journey of learning what Mackenzee’s condition is and trying to take it each day at a time of what you may be facing,” her mother, Kim Wittke, told Global News.
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Kim describes Mackenzee as “stuck” in infancy. She functions at the level of a nine-month-old. She can’t walk or talk, but she loves to interact and play. The soon-to-be-teen has not grown since she was about three years old.
“She has gotten a bit more mature in her face, got a couple adult teeth, but she’s currently only 21 pounds,” said Kim.
Mackenzee has had surgery on all her major organs. When she was born, doctors didn’t think she’d survive a few days, let alone 12 years. They suspected a chromosomal issue, but all her test results were normal.
In 2016, a Florida research team recruited Mackenzee to help them learn about the human aging process. The researchers sequenced her genome and found one mutation on one X chromosome. That still didn’t provide any answers.
“It’s a mutation that has never been documented before in any of the medical journals, so they really can’t say for certain if that is the cause of her underlying condition,” said Kim.
“She’s her own little being and she’s got her own thing going and she’s at this point rockin’ it.”
According to Kannu, about 60 per cent of people with a genetic condition test negative with the standard testing techniques.
His team will take a “personalized health” approach; combining genetic information with other metabolic factors, such as molecular by-product levels in the child’s blood or urine, or changes in protein levels.
Kannu sees the genetic code as a musical score; the letters are just the notes.
“(The genetic code) itself only gives you a limited amount of information… you need to think about the tempo, you need to think about whether it’s written in the treble or a bass clef.”
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The one-year pilot program will see about three pediatric patients per month in virtual appointments. They will be referred by physicians.
Kannu’s team hopes to eventually receive enough funding to include adults in the program. The researchers also hope to improve genetic testing techniques, and make them the standard in Alberta’s health-care system. There are similar programs in Ontario and the U.S.
About 400,000 people are living with a rare disease in Alberta. For those with no diagnosis, uncertainty can linger for life as they’re passed from specialist to specialist. He says a diagnosis is “empowering.”
“Not only does (a diagnosis) allow (patients) to have some control over their life, to read up about their condition, but an accurate diagnosis also enables a very precise treatment plan,” said Kannu.
Mackenzee’s parents stopped searching for a diagnosis years ago.
“When you think too far in the future, you just start to get filled with the anxiety of really not knowing,” said Kim.
“So I’ve really just had to train myself to take it one day at a time, appreciate the time, and love her up as much as we can.”