‘Relieved but terrified:’ Without fighting for care, Ottawa sisters with rare disease wouldn’t have lived past 30

As a baby, Meghan was hitting all of her milestones, but her grandmother noticed something was off — she seemed very pale.

“I didn’t suspect anything was wrong,” mother Christine White says. “[My mother] kept saying ‘There’s something not quite right about that child.’”

Nonetheless, Christine took 15-month-old Meghan to her pediatrician in Ottawa to get checked out — just in case.

Meghan’s doctor noticed her liver was enlarged so she was sent to the oncology ward at Sick Kids Hospital in Toronto because they thought it may be cancer — leukemia, specifically.

But it wasn’t cancer.

It was something called Gaucher’s disease — a rare, inherited metabolic disorder that results in the accumulation of harmful quantities of certain fats (specifically glycolipid glucocerebroside) throughout the body within the bone marrow, spleen and liver.

Because it is an inherited disease, the whole family had to be tested by way of blood test.

While Christine’s older son was found to be a carrier, her youngest daughter, Kate, did test positive and the disease was active.

It was a diagnosis Christine wasn’t prepared to hear.

“I was relieved but terrified,” White says. “It was isolating.”

Sunday marks Rare Disease Day across the world, and Meghan and Kate’s story is just two among the sea of three million Canadians who live with a rare disease in the country.

There are 7,000 different rare diseases in the world, and every day one in 12 Canadians — two thirds of them children — are affected by a rare disease.

And according to the National Gaucher Foundation of Canada, the incidence rate of Gaucher's disease specifically is one in 60,000 and the prevalence is estimated to be one in 100,000.

The life expectancy of someone diagnosed with Gaucher’s was — at the time — about 30 years old.

But getting treatment wasn’t going to be easy.

Canada offered didn't offer any treatment options at the time for the disease — but there was one treatment available in the U.S.

So Christine did the only thing she could think of: go to the media, start a campaign and meet with health ministers.

“We were ultimately successful in getting an enzyme replacement therapy,” Christine says. “My girls are missing an enzyme, so [this treatment] replaced the missing enzyme. And we then had gotten access to therapy. But I felt very exposed — we had to make that decision on whether or not to talk about our children publicly without their permission, but at the time it was all we could do to get some sort of treatment.”

By the time the girls got their treatment, Meghan was three, but Kate had to wait until she was five — or “sick enough,” as the doctors put it to Christine, before she could get hers.

Today, the girls go for an IV infusion every two weeks for their treatment.

They both live full and happy lives and are now expected to live out a full life expectancy.

Meghan, who is 31 today, is an entrepreneur, getting women’s sanitary products into the hands of women who need them with her company called Period Packs.

Kate, 30, is currently enrolled in nursing school.

Christine believes her daughters’ upbringing — going through what they did and experiencing things most kids don’t — made them more empathetic, so their chosen careers, she says, make sense.

Christine, on the other hand, wanted to continue spreading awareness about Gaucher’s disease and is now the president of the National Gaucher Foundation of Canada.

There is a treatment in pill form that now exists, but because of the country’s shortfall in undertaking rare diseases and understanding this form of medicine, it is just out of reach for Meghan and Kate (this form is not available in Canada).

But Christine does count her family lucky, all things considered.

She says there’s still a lot more work that needs to be done for patients with rare diseases in Canada — and Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders (CORD), agrees.

“Collectively, rare diseases do affect a lot of people,” Wong-Riger says. “Since the mid 80s, there have been more than 700 new treatments for rare diseases — but unfortunately, they don’t get to people very easily because patients and physicians don’t know about it, and can often be very difficult to find and prescribe.”

Years ago, she says, the federal government had promised $1 billion toward setting up a program, treatment and a national strategy for patients with rare diseases.

Now, she says, it’s time to hold the government accountable and have them pay up.

“Sometimes we don’t diagnose a patient because we don’t even know how to diagnose it until there’s a treatment,” she says. “And then when you’ve got a treatment, we then begin to put together the programs — or physicians begin to recognize these programs as there's more awareness around the disease. So this is highly important.”

And this is where Canada is falling behind — rather than taking a preventative approach, Wong-Rieger says the government is taking a reactionary approach in this area of medicine.

“Canada, sadly, really lacks the recipe to develop in the world of rare diseases,” she says. “In other countries, there are concerned programs to do diagnosis and have treatment — actually identify and treat these. Some countries like the U.S. and Europe will have dedicated research funding for their diseases.”

Canada, however, has had not any programs for many years for rare disorders. CORD, Wong-Rieger says, was the body who has had to try and fill in those gaps.

Individually, funding these treatments can be quite expensive, Wong-Rieger explains.

But in the long run, it could cost even more as living with such diseases can take patients out of the workforce, as well as any mothers of patients. It could also mean more medical resources being dedicated to these individuals on a longer-term basis.

Wong-Rieger also explains that parents who have kids with rare diseases often have higher rates of divorce.

It’s a huge impact on the people and economy, Wong-Rieger stresses, but acting sooner means fewer monetary and social costs down the road.

“We have a great health system, but only for things that are common,” Wong-Rieger says.

Newborn screening does exist in Canada, but the number of diseases screened varies by province.

In Ontario, newborn screening is aggressive as it tests about 35, but other provinces can test for as low as six.

According to CHEO’s website, the children’s hospital screens newborn blood spot samples for five groups of diseases:

• Metabolic – where the body is unable to break down certain substances in food, like fats and proteins
• Endocrine – where the body produces too much or too little of certain hormones
• Sickle Cell Disease – which causes problems with breathing and growth
• Severe Combined Immune Deficiency – which affects the body’s ability to fight infections
• Spinal Muscular Atrophy – which causes muscle weakness and wasting
• Critical Congenital Heart Disease – which affects the quantity of oxygen in the blood

Other countries? Well, they can test for as many as 60 of them.

“We have a good healthcare system but we don’t really rise to the occasion when there’s something that meets outside of our normal way of thinking,” Wong-Rieger says. “The most important thing for us right now is holding the federal government accountable for that $1 billion they promised to set up for the program.”

Without treatments or attention paid to these types of rare diseases, Meghan and Kate wouldn’t have the treatment they have now. But, as Wong-Rieger says, it would be better if Canada could come through with better, less invasive treatments for people like Meghan and Kate, so patients can live happy, long and fulfilling lives.