An ultra-rare disease: One family’s journey to life-saving treatment
When the Gearey family’s 2014 summer vacation was interrupted by their youngest daughter Teaghan’s complaint of stomach, back, and head pain, mom Lisa initially thought the active, hot and sunny days had led to a bit of dehydration so she had her drink some water and take a break from the outdoor fun. When the same complaints resurfaced over the next couple of days, the family took her to the local hospital where dehydration was once again suspected. It was at this point that Lisa’s gut instinct began to tell her that something else was going on, kicking off what would become a two-year journey to find a diagnosis and, ultimately, a life-saving treatment.
After arriving back home in London, Lisa took her then 7-year-old daughter Teaghan to see her primary care paediatrician who found that her liver was enlarged. Suspecting a possible virus, he sent Teaghan for blood work which showed elevated liver enzymes. Over the next couple of weeks, repeat blood work continued to show rising enzymes and Teaghan was referred to paediatric gastroenterologist, Dr. Dhandapani Ashok, at Children’s Hospital at London Health Sciences Centre (LHSC).
Dr. Ashok initially also suspected a virus might be the cause behind the enlarged liver and elevated enzyme levels and would resolve over time. However, her liver tests were persistently abnormal and repeat ultrasounds revealed that both the liver and the spleen were enlarged. After initial diagnostic tests did not yield answers, he ordered further investigations to look at rare metabolic disorders. Her lipid tests were suspiciously abnormal which provided the initial clue to the diagnosis.
From here, Dr. Ashok referred Teaghan for genetic testing and counselling at LHSC. Following the results of a lab test that measures enzyme activity, liver biopsy, and genetic testing by Dr. Chitra Prasad, clinical and metabolic geneticist at LHSC, the family received a long-awaited diagnosis in June 2015 – Teaghan had lysosomal acid lipase deficiency (LAL-D), an ultra-rare, chronic, progressive inherited metabolic liver disease that affects fewer than 20 people per one million of the general population. It affects the body's ability to produce an enzyme called lysosomal acid lipase (LAL), which is needed for the breakdown of fats and cholesterol in your cells. Without treatment, harmful amounts of various fats and cholesterol build up in your organs, leading to significant health consequences including fatty liver disease, cirrhosis, and liver failure.
For the Gearey’s, having a diagnosis brought some relief as it confirmed that they were right to have followed their gut instincts that prior summer, but it was also a devastating moment. At the time of diagnosis, Teaghan was already in stage three liver disease, and there were no definitive treatment options available.
“I can still remember sitting there and feeling completely unprepared for such a serious diagnosis because Teaghan’s symptoms had over that year seemed to come and go,” says Gearey. “It was horrible to feel like the life of our happy child was being taken away, but Dr. Ashok was very reassuring and his patience over the next steps not only answered the many questions we had, it gave us confidence that while it was a serious diagnosis, our daughter would be okay and would grow up to experience that regular, joyful life we wished to provide.”
Dr. Ashok advised the family that there was an enzyme replacement therapy drug that was undergoing trials. It was expected to be approved for use in Canada in a few months’ time and would be a life-saving treatment for Teaghan until a cure for LAL-D could be discovered. In the meantime, Teaghan would need to follow a fairly strict low-fat diet to slow the progression of the disease. After waiting patiently for six months, the news came that despite FDA approval in December 2015, the drug approval for use in Canada was going to take longer than initially anticipated. It was a delay that Lisa could no longer accept – she could no longer wait while she felt like their child’s life and long-term health hung in the balance, she had to take action. With support from Drs. Ashok and Prasad, they began to move forward to seek Health Canada approval under the Special Access Programme (SAP) to have access to the enzyme replacement therapy drug approved for Teaghan.
While Dr. Ashok worked tirelessly to submit the required practitioner-led application and ensure it continued to move forward throughout the approvals process, mom Lisa began to petition the government to speed the broader approval to allow the sale of the drug in Canada. She went to see her local MPs, MPPs, worked with the Canadian Liver Foundation, The Isaac Foundation, and anyone she could find that might be able to help.
“It was a stressful period and things were moving quickly,” notes Gearey. “We were working in partnership with Dr. Ashok on the SAP application, and we were also making important connections elsewhere that would allow us to get in front of representatives from the pharmaceutical company, because we knew that if we were able to obtain permission to access the drug, we would still need the support of the pharmaceutical company to supply it to us.”
In May of 2016 the family received the news that Teaghan had received SAP approval to access the drug for use in Canada. After continued consultation the pharmaceutical company, Teaghan began enzyme replacement therapy at Children’s Hospital in November, ending their more than two-year journey to reach a diagnosis and obtain treatment.
Today, Teaghan is a thriving 13-year-old who loves to play baseball and swim. Her liver has returned to a normal size and her growth chart is back on track. The enzyme replacement therapy drug they had fought so hard to initially access, has also now been approved for sale in Canada. Teaghan’s story played a role in getting the drug approved quickly in Canada as Dr. Ashok attended the Canadian Drug Review meeting to present Teaghan’s medical condition and treatment options.
Until the day there is a cure, Teaghan will continue to visit Children’s Hospital every other week for an infusion of the enzyme replacement therapy drug and will see a metabolic geneticist every six months for monitoring.
“Children’s Hospital has been amazing since day one,” says Gearey. “Dr. Ashok and Dr. Prasad have been so phenomenal. I’ve always felt like part of the care team and that our opinions mattered throughout the entire process. The entire Children’s team that we see has become like a second family to us. They are a part of our life and they have been there for us every step of the way.”