Stephanie and Tiffany, our most loveable twins were diagnosed with Type 2 SMA (Spinal Muscular Atrophy) on June 23, 2020, when they were 21 months old. SMA is a rare disease which can only be treated two different ways. SMA affects a child’s ability to sit independently, crawl, stand, and walk. SMA can also affect one’s speech production. If left untreated, a child may also develop difficulty with breathing and swallowing. We need to raise enough money and fight for their chances to receive the Zolgensma treatment that costs 2.8 million dollars per child.
When Stephanie and Tiffany were one year old, they were not crawling nor getting up to a sitting position from lying down. They were not pushing up or standing either. When their parents sought their pediatrician's advice, they were told it was not a concern and to wait until they reached 15 months old. It then became noticeable that Tiffany's back started to curve when she was in a sitting position, and both twins would not be able to sit for long durations. They would fall back often when placed in the sitting position. At the time of their 15 month old check up, their pediatrician only acknowledged the twins as having low muscle tone, at which point the twins were referred to having physiotherapy sessions at home.
It was after the second physiotherapist visit that the twins were rated with an abnormal low muscle tone and that they should be referred to a neurologist. Once the request for a neurologist was locked in, it took over four months of waiting until they were given an appointment in April of 2020. It took an additional five months to receive their blood test results due to errors at the blood test centre.
After their diagnosis and a long wait for funding from the government, Stephanie and Tiffany finally began their Spinraza treatment at 23 months old in August 2020, a lifetime treatment that involves receiving an injection every four months in their lumber puncture. Besides receiving the Spinraza treatment, Stephanie and Tiffany also require the usage of a cough-assist machine twice a day that would help clear out secretions from their lungs to maintain regular breathing. At two years and four months old, Stephanie and Tiffany are still not able to walk on their own without support.
Zolgensma is an expensive treatment. It is a drug that replaces the dysfunctional gene which causes spinal muscular atrophy Type 1. Zolgensma can reverse the disease and can also help to stop disease progression. It is best to start this drug before symptoms start showing but nevertheless would improve motor functions of the child even after the desired age. This life-saving therapy has now been approved by Health Canada. However, at the time of Stephanie and Tiffany's diagnosis with SMA, Zolgensma was not yet approved in Canada. With all of the delays they had experienced, Stephanie and Tiffany have missed their chance of receiving treatment outside of Canada.
Case-by-Case (an Exceptional Access Program by the Ministry of Ontario) was looked into but Stephanie and Tiffany’s doctor at Sick Kids already refused to register and enroll the twins into this program, believing they would not qualify. That is why we are still trying to fight for their chances of receiving the Zolgensma treatment.