Our son, Conner Finn, was diagnosed with adrenoleukodystrophy (ALD), a rare genetic disorder, at the onset of the COVID-19 pandemic. Our journey to diagnosis was not straightforward; we did not have access to newborn screening, and our son's condition was discovered by chance. We faced significant delays in accessing diagnosis and treatment due to this lack of early detection.

Adrenoleukodystrophy (ALD) is an inborn metabolism error inhibiting the body's ability to metabolize long-chain fatty acids. This destroys the myelin in the brain, long fibers of the spinal cord, and the adrenal glands. It also causes primary adrenal insufficiency, which is fatal if undetectable but highly treatable with medication if properly diagnosed. In fact, presenting to the emergency room in an adrenal crisis is one of the more common ways boys are diagnosed.

The only treatment for ALD is stem cell transplantation or, most recently, gene therapy. These treatments are not cures but can halt the progression of the disease, but only if caught early. Once the brain damage has occurred, it cannot be reversed. Boys who access timely treatment can go on to live a normal life. Without treatment, ALD is a death sentence.

Conner presented with cerebral disease, the most serious form of ALD at diagnosis. Without treatment, this results in severe disability and death, usually within six months to two years of diagnosis. Boys who cannot access treatment lose their vision, hearing, and ability to walk, eat, and communicate until they fall into a vegetative state and die. No parent should have to face such devastating news about their child's health without any prior warning or opportunity for early intervention.

There are no ALD Specialists in Canada, and we could not access any timeline for treatment. We were denied out-of-country coverage, and as a result, we were forced to liquidate our retirement savings to get our son to a specialist in Minnesota for treatment. We later appeared in the Saskatchewan Legislature where the government agreed to cover the cost of treatment due to the lack of experience with ALD and access to treatment in Canada. Additionally, the Health Minister of Saskatchewan, Paul Merriman, committed to developing a rare disease strategy. This was two years ago, and nothing has happened.

Since that time, our family has met several other Canadian families who have lost children to this cruel disease due to the lack of newborn screening and available treatment. ALD presents like other common conditions such as ADHD, Autism, and other learning difficulties/behavioral challenges. Families face a diagnostic odyssey and do not qualify for treatment due to the advanced, undetected progression of the disease. These families are forced to take their children home to die, powerless to stop it.

Men who are undiagnosed but develop the condition later in life are often misdiagnosed with psychiatric conditions, become homeless or incarcerated due to behavioral concerns stemming from the brain deterioration from ALD, or present with adrenal crisis, which is fatal on its own if left untreated.

Women with ALD, who were once thought to be carriers, develop symptoms of the disease, often facing devastating disability and undergoing a diagnostic odyssey before being identified.

We are calling on the Canadian provinces and territories and the Federal Canadian government to implement a national newborn screening program that includes testing for ALD and all other rare conditions with qualified treatments available. Early detection can dramatically improve outcomes for children like Conner, who suffer from these rare diseases.

One in twelve Canadians suffer from rare diseases, with over 50% of them being children. Most rare diseases do not have treatments. ALD has had an effective screening test for over a decade. There is no excuse for Canada to be ten years behind in providing for the right to life of its citizens. It is incumbent upon the Provinces, Territories, and Federal Canadian Government to ensure all Canadian children have access to screening and qualified treatment.

A child's right to live and be free of devastating disability should not depend on their postal code.

Please join us in urging our government officials to take action now so that no more families will be blindsided by these devastating diagnoses when there is potential for early intervention and treatment options available. Sign this petition today!