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Many questions, few answers

No strength in numbers for families of children diagnosed with rare diseases

There are more than 7,000 'rare' diseases in medical texts and more that aren't; supports to ease the burden on isolated family members are in short supply

This article was published 30/9/2017 (841 days ago), so information in it may no longer be current.

There was no indication Donavon Jordan-Johnson would be anything but a healthy, bouncing baby boy when his mother arrived at the hospital to give birth.

Similarly, Sophia Jurkowski would be born into a healthy family; parents with no telltale genetic markers and a healthy older sister named Olivia.

But both babies quickly became members of tiny Manitoba communities made up of people with rare disorders. Just three others in the province share Donavon’s condition, four have Sophia’s.

Doctors first noticed a problem with Sophia while she was still in utero. A mass was forming on the left side of her neck. Her condition is called cystic hygroma, though doctors appear now to prefer the term lymphatic malformation. Essentially, her lymph nodes don’t drain properly and the blockages cause the nodes to swell.

It’s a condition that affects one in 4,000 births. It has no cure, and treatment is so painful, Sophia spent two weeks under sedation for the first one, and a week sedated for the second recently.

(Boris Minkevich / Winnipeg Free Press)

(Boris Minkevich / Winnipeg Free Press)

Sophia is 14 months old.

"To have your child sedated that long... it’s very difficult to see," her mother Kimberly Jurkowski says. "When she was conscious, you could see — she couldn’t make a sound because she was intubated — but you could see the silent scream."

Sophia is undeterred; bright, quick to smile and unstoppable while a Free Press photographer tries to snap photos in the family’s North Kildonan sunroom.

"She has this big personality, and she’s so confident," Jurkowski says. "Doctors said she probably wasn’t going to start crawling because the lesions in her hand make it painful, but she’s found a way around it."

"Rare" translates into fewer than one in 2,000 people, says Canada’s Rare Disease Foundation. More than 7,000 diseases fit the bill, and an untold number remain unclassified. About three million Canadians — or one in 12 — have been diagnosed with a rare disease.

Collectively, rare diseases present a major health issue, but individually they barely register. For families, they have little in common medically, but they share the bond of isolation.

"When he was born, he looked healthy," says Debbie Dutka, Donavon’s grandmother and primary caregiver. "He was born on time, all of that." 

But something wasn’t right. His family wouldn’t find out what was until it was almost too late.

Donavon, now nine years old, lost weight immediately after birth, as most babies do. But he didn’t start to gain it back quickly, as most do.

Debbie Dutka with her grandson Donavon Jordan-Johnson, who suffers from a rare disease known as galactosemia. (Phil Hossack / Winnipeg Free Press)

Debbie Dutka with her grandson Donavon Jordan-Johnson, who suffers from a rare disease known as galactosemia. (Phil Hossack / Winnipeg Free Press)

"Most babies wiggle, they stretch and move their limbs," says aunt Heather Foster. "He didn’t do any of that."

Doctors called to get the baby in for more bloodwork. "If we had waited one extra day, he probably wouldn’t be here... he’d probably be dead," Dutka says.

So began the grandmother’s journey, caring for a child with galactosemia, a disease that affects one in 60,000 newborns.

Galactose is a sugar found in many foods and is a natural byproduct of metabolizing other sugars. Galactose is toxic, but most people produce an enzyme that breaks it down and flushes it from the body.

Donavon doesn’t produce that enzyme.

"There’s no treatment at all, no cure, no enzyme you could put in his body," Dutka says. "All we can do is eliminate as much galactose from his diet and support him in any way we can, because it is attacking his organs.

"He’s developed epilepsy. He’s on the autism spectrum and has global development delay, so even though he’s in Grade 3, he’s at the nursery or kindergarten level."

Dutka knows of only three cases among Manitoba’s 1.3 million population. Globally, only eight people with the disorder have survived to their 40th birthday.

Dutka wants Donavon to be among them, but nine years later, remains frustrated that a delay of nearly a week before the condition was diagnosed delayed preventive measures that could have mitigated some of the early damage. She learned later that doctors were aware from the first blood screening that galactosemia was a possibility.

Diagnosis is the first of many problems kids with rare diseases face. Some disorders mimic others, and some are so rare many doctors don’t know about them in order to consider a diagnosis. Some diseases are so rare, patients live their entire lives never knowing what condition they had.

A delay in determining the problem could be catastrophic. An incorrect diagnosis can lead to treatments that do more harm than good.

“You have to make all these decisions, but at the same time, you have nobody to talk to. Even the families here, their experiences are different, so you just have to hope you’re making the right decisions.”

Foster says once diagnosed, patients may have little medically in common with other rare-disorder patients, but all face similar issues. 

"The struggles are the same," she says. "We all feel isolated."

That’s something that has left its mark on Kimberly and Dave Jurkowski. They’ve found four families in Manitoba dealing with the same condition Sophia has, and have made friends with another in Nova Scotia. But lymphatic malformation takes many forms and treatments are often different.

"You have to make all these decisions, but at the same time, you have nobody to talk to," Kimberly says. "Even the families here, their experiences are different, so you just have to hope you’re making the right decisions."

The isolation is indeed troubling, acknowledges Dr. Cheryl Rockman-Greenberg, a medical geneticist at the Health Sciences Centre and distinguished professor of pediatric and child health, medical and biochemistry and medical genetics at the University of Manitoba.

"If people are feeling as though they have nobody to turn to, it means we as physicians aren’t doing our jobs properly," she says.

"A rare disease doesn’t change the art of medicine, and that’s communicating with patients, explaining in understandable terms, providing information on everything we know and knowing that if I don’t know the answer, I know who to turn to."

Bill McKellin, a medical anthropologist at the University of British Columbia, is one of the founders of the Rare Disease Foundation. He’s experienced the issues first-hand: his daughter has a rare form of dwarfism.

"(Patients) should recognize their experiences aren’t unique," he says." The kinds of experiences — dealing with schools, health care and social services — are shared by a lot of other families. The difficulties in explaining the situation to family and friends isn’t unique."

(Joe Bryksa / Winnipeg Free Press)

(Joe Bryksa / Winnipeg Free Press)

Foster and Dutka discovered that when registering Donavon for school.

"There’s no checkbox for galactosemia," Foster says. "If they don’t have a checkbox, they don’t know what to do with you. So they do nothing."

Educating Donavon’s teachers about his autism, about his reaction to stress and noise and about how what looks like a temper tantrum often isn’t has been a challenge. And trying to explain his condition to friends and families has been frustrating.

"The first reaction is disbelief," Dutka says, adding, ‘So he’s lactose intolerant?’ and ‘It’s a milk allergy?’ are common reactions.

"It’s not a milk allergy, it’s a life-affecting thing. It’s like taking a bottle of (bleach) and slowly putting it in your body."

McKellin says Dutka’s experience highlights a common failing of society in general around medical issues, and that is relying on a specific diagnosis to determine a child’s needs.

Instead, he recommends focusing on the child’s functional needs, which are often very similar across a variety of diseases.

Schools can do their part by shifting away from requesting diagnoses — which he suspects violates patient privacy laws — and focusing instead on the support a child needs, regardless of the condition’s name, he says.

Things are starting to change, at least in the medical field. Instead of simple diagnoses, doctors and researchers are starting to think more in terms of biochemical processes, and are having some success developing treatments that address symptoms shared by some rare diseases, McKellin says.

Most of the diseases on the rare list are genetic in nature. Some gene somewhere is preventing development of certain processes in the body, such as the creation of an enzyme to flush out galactose. Some genetic discrepancies are inherited. Others, such as Sophia’s, just happen.

Others are autoimmunal, in which the body attacks healthy tissue as if it were an invading virus or bacteria.

Multiple sclerosis, perhaps one of the best-known rare diseases, is thought to be autoimmunal, with the body attacking the myelin that sheathes nerve cells in the spine and brain. It affects one in 3,333 people worldwide. It is one of a handful of rare disorders with a vast support network and extensive research.

Though MS is listed on the rare-diseases database globally, Canada has the highest rate in the world, with more than 100,000 people diagnosed, or 1 in 340. Closer to home, there are 3,500 Manitobans living with MS. 

The only treatment available for Sophia is chemotherapy. Doctors insert needles into her hygromas in various parts of her body and inject drugs that eventually start to shrink the masses in volume.

Surgery isn’t an option because it’s an all-or-nothing proposition, and removing an entire mass could result in massive nerve damage.

Sophia's lymph nodes don't drain properly and the blockages cause the nodes to swell. (Supplied)

Sophia's lymph nodes don't drain properly and the blockages cause the nodes to swell. (Supplied)

"If you don’t get it all, it’s just going to come back," her mother says. "And for some of the people, the nerve damage left them paralyzed."

Hope can be one of the first casualties with a rare disease. While there’s money to be made in developing drugs and treatments for diseases affecting large numbers of people, economies of scale tend to discourage research into diseases suffered by few.

McKellin is optimistic that’s about to change.

In the United States, tax policies work to level the playing field between research on rare diseases and common illnesses. These so-called "orphan drug" laws provide incentives to pharmaceutical companies to foster research and development.

The Rare Diseases Foundation and the Canadian Organization for Rare Disorders had made progress bringing similar policies to Canada, with regulations drafted during former prime minister Stephen Harper’s government. But McKellin says those papers have sat on a shelf since the 2015 federal election.

The process is, however, set to restart with a consultation period expected to conclude by the end of the year, according to Health Canada.

Department spokeswoman Renelle Briand says that in addition to creating a framework to encourage development of orphan drugs, Health Canada is streamlining review and approval policies to hasten availability of drugs available elsewhere in the world and increase the potential for reimbursement.

(Joe Bryksa / Winnipeg Free Press)

(Joe Bryksa / Winnipeg Free Press)

"Currently, Health Canada is refreshing its guidance document, the Orphan Drug Roadmap, in consultations with sponsors with the intent of making it as useful as possible to sponsors interested in bringing drugs for rare diseases to Canada," she wrote in an email.

She pointed to approvals in 2016, where 13 of the 38 drugs granted approval for sale in Canada were considered orphan drugs in the U.S. or Europe. Further, in 2016, Canada approved nine of the top 10 selling orphan drugs.

Gene therapy may provide the most hope, though the pace of progress in medical science is often measured in generations, not years.

Barbara Triggs-Raine, professor of bio-chemistry and medical genetics at the University of Manitoba, says while research into individual rare diseases may not be apparent, an entire community of researchers is conducting "basic science" on many of the biological processes behind many diseases.

At one point, she was researching the science behind one particular gene sequence — with no particular disease in mind — when she was contacted by another researcher who had narrowed his research to the same sequence. She said that highlights the need for science for the sake of science, rather than limiting funding to research with a stated practical purpose.

"Many, many discoveries in medical science are serendipitous," she says.

It’s one thing to think you’re alone because nobody else shares your disorder. It’s something else entirely when you don’t have a diagnosis. Rockman-Greenberg sympathizes.

"Finally getting a diagnosis — knowing what it is — is such a relief to patients," she says, "because it represents closure."

Treatment for cystic hygroma is so painful, Sophia had to be sedated for two weeks the first time. (Supplied)

Treatment for cystic hygroma is so painful, Sophia had to be sedated for two weeks the first time. (Supplied)

Medical technology just around the corner may well eliminate some of the uncertainty, she says.

"At some point, we are going to be ordering complete exome sequences. That’s the test of the future, because we’ll know everything. But it also means we might find other things, and do you really want to know?"

A complete exome sequence would show, for instance, whether a patient is genetically predisposed to a form of cancer. But it might also point to a cure, or at least to a therapy that stops further damage.

Using CRISPR/Cas9 genetic editing techniques, it’s possible to make genetic repairs both in vitro and, in some cases, in children or adults. It won’t reverse damage that’s already been done, but it may halt further damage. CRISPR/Cas9 uses DNA’s antiviral defence mechanism to edit a gene sequence. Essentially, it results in cutting a gene sequence at the right spot and either removing or replacing the target genes.

Triggs-Raine said the ethical considerations of such genetic editing are considerable. In that way, reality is starting to mirror fiction, where sci-fi writers for decades have explored the ramifications of genetic engineering, not the least of which are objections to scientists "playing God" with human life.

She said there is much debate required, most of it focusing on whether genetic editing is going to affect cells that could pass on those edits to a patient’s future offspring. Science refers to that collection of cells as the "germline."

In Manitoba, Dutka has been busy organizing events for families affected by rare diseases, including local Parent2Parent meetings and a sibling appreciation day to recognize challenges faced by healthy brothers and sisters.

Lost in the paperwork, countless doctor visits, home-based therapies and support for the sick child are healthy siblings, who often have to take a back seat.

"It’s been really hard on Olivia," Kimberly Jurkowski says of Sophia’s older sister. For Sophia’s treatments, Olivia, who turns three next week, stays with family, unaware why she has to be separated from her parents and younger sister for so long. "She asks questions, such as ‘Why does Sophia have to see the doctor all the time?’"

“Finally getting a diagnosis — knowing what it is — is such a relief to patients because it represents closure.”

Dutka is a volunteering powerhouse, diving in to help during the Canada Summer Games, and is the local contact for the Rare Diseases Foundation. She’s taken her efforts to shopping malls to help spread the word to people living with rare diseases that they are not alone.

She has been amazed by the number of people who approach to share their stories.

"We didn’t have to tell them about rare diseases," she says. "They were telling us about theirs."

One family, according to Dutka, has a child with a condition so rare, the only foods the family can offer must be flown in from Ontario, at enormous expense.

Dr. Cheryl Rockman-Greenberg (right) and Dr. Barbara Triggs-Raine. "Finally getting a diagnosis... is such a relief to patients," says Rockman-Greenberg. (Joe Bryksa / Winnipeg Free Press)

Dr. Cheryl Rockman-Greenberg (right) and Dr. Barbara Triggs-Raine. "Finally getting a diagnosis... is such a relief to patients," says Rockman-Greenberg. (Joe Bryksa / Winnipeg Free Press)

For Foster and Dutka, safeguarding Donavon’s human rights — and the rights of others — has become a focus.

"In my case, for my grandson, I’m trying to get him the education he deserves, his human rights. For this family to have to ship their food in from Ontario, I don’t think that’s right."

Foster said in adulthood, sufferers of rare disorders have another rights issue to face.

"There’s no protection against getting fired for having a rare disease," she says. "There are so many people who are protected, but if you have a rare disease, they can fire you and it’s OK."

Meanwhile, for Dutka, life is a constant struggle to monitoring what Donavon eats. Package labels are required reading, and knowing what to look for isn’t always easy.

"The labels never say ‘galactose,’ so you have to look for other things. Caseinate (a protein) is a big one, and so is whey," she says. "So many foods are high in galactose — blueberries, watermelon, tomatoes, many of the things kids love to eat."

Milk — even his mother’s milk — has been out of his diet since diagnosis.

"Who would ever think mother’s milk would be the absolute worst thing you can give to your baby?" Foster says.


Kelly Taylor

Kelly Taylor
Copy Editor, Autos Reporter

Kelly Taylor is a Winnipeg Free Press copy editor and award-winning automotive journalist. He's been a member of the Automobile Journalists' Association of Canada since 2001.

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Updated on Saturday, September 30, 2017 at 10:39 AM CDT: Url fixed.

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