In search of hope for kids with Spinal Muscular Atrophy
SMA Newborn Screening Pilot Project aims to spare families the pain of losing a child
Watching a baby grow and develop is one of the greatest joys of parenthood.Sitting up, crawling, and first steps are some of the many milestones to be captured on camera and celebrated with friends and family.
Imagine the concern and confusion parents feel if their baby doesn’t develop at the same rate as other little ones. Or, if suddenly, their baby who had been bearing weight on their legs no longer can.
Sadly, this is the situation faced by hundreds of families in our community.
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease associated with the deterioration of motor neurons in the spinal cord and brainstem. The result of a genetic mutation present at birth, SMA is the most common genetic cause of infant death affecting 1 in 11,000 newborns in North America.
“It’s heartbreaking to give parents this news,” says Dr. Jean Mah, a pediatric neurologist and neuromuscular specialist at the Alberta Children’s Hospital. “For many of them, their child had been developing normally and all of a sudden, things took a turn. The future they had envisioned for their child and their family is sadly taken away.”
Children with SMA will generally need a wheelchair due to low muscle tone and weakness. Over time, feeding and breathing can also become compromised and require ongoing interventions to sustain their lives.
Fortunately, a drug has been discovered and approved to help prevent and potentially reverse the impact of this devastating genetic disease. Studies have shown that the treatment can provide the best possible outcome if given before symptoms even appear.
How can treatment be given if no symptoms are present?
Screen and diagnose babies with a simple blood test at birth. Currently, when babies are born in Alberta, they are tested for 17 different treatable conditions including cystic fibrosis and sickle cell disease. A routine heel prick blood test taken within 24 hours of birth can save parents and children weeks, months and even years of suffering in the unknown.
Thanks to funding from the community, Dr. Mah and a team of specialists at the Alberta Children’s Hospital Research Institute in partnership with colleagues at the University of Alberta are about to embark on a new research study that involves developing a test to quickly diagnose SMA.This test would be added to the newborn screening protocol and, when positive results are revealed, babies can begin treatment before the disease begins to take a toll on their bodies.
“The ultimate goal of the SMA Newborn Screening Pilot Project is to save families the pain of losing a child, and for those who survive, to reduce the need for wheelchairs, feeding tubes and ventilators,” explains Dr. Mah. “Early treatment holds the promise to completely prevent or limit the disability experienced by children with SMA. That would be much more hopeful news to share with a family.”
Lewiston, the beautiful little boy with 'eyelashes for days'
Jessica and Ronnie Olstad were thrilled when their little boy, Lewiston, was born in May 2016 – a little brother for their daughter, Swayzie.
While enjoying summer holidays in Manitoba only a few months later, they noticed that Lewiston became weak and limp.
They took him to hospital in Winnipeg and then to the Alberta Children’s Hospital when they returned to Calgary. After a series of tests, they were devastated to learn that their beautiful little boy had SMA.
They were told he might only live to the age of two. Sadly, Lewiston’s disease progressed much quicker. Severe respiratory and feeding struggles meant that Lewiston needed more and more medical support.
In September 2016, they were admitted to the hospital and from there transitioned to Rotary Flames House where they spent his final three months.
Even after he was diagnosed, the Olstad’s made the most of family time with Lewiston. Throughout that entire time, they pledged as a family to live each day with joy and gratitude.
“The team at Rotary Flames House were absolute angels – they have a divine calling,” says Jessica. “They made us so comfortable and they got us through some really difficult days while at the same time joining us in our family dance parties.”
Lewiston especially enjoyed his warm baths so it was fitting that his last few hours were spent having a bath and being wrapped in a cozy towel.
Surrounded by family and friends, Jessica and Ronnie held Lewiston as he took his last breath on November 22, 2016.
As she reflects on those days, Jessica knows that she and Ronnie were given a very special gift in Lewiston. “Not only was he a beautiful little boy with big blue eyes and eyelashes for days, he was a loving, joyful soul who made us all better people.”
Since his passing, the Olstad Family has put all their energy into honouring his legacy by giving back to help families facing the same devastating SMA diagnosis.
Through Love for Lewiston initiatives, they are supporting this critical research project.
“We believe strongly in the potential of newborn screening. Knowing that there is medication that could make a life-changing and life-saving difference for kids with SMA, I feel so hopeful for all the families who are going to walk this road in the years ahead," says Jessica.
“We are driven by families like the Olstads,” says Dr. Mah. “It’s wonderful to know that we have the support of the community behind us as we pursue these important research projects. This is how we move medicine forward and make life better for kids and their families.”
In 2018 the Love for Lewiston Foundation reaised more than $73,000 for the Alberta Children's Hospital Foundation.