The universal hope that every new parent shares upon the impending entry into the world of their newborn is, “Please, let her/him be healthy.” That is certainly what Alfred Breton-Paré and his wife Marie-Ève thought when they welcomed their son in 2007.
At first Éloi appeared perfectly healthy but early in his life he showed signs that something was not quite right. He didn’t start walking as soon as might be expected. He struggled getting up from the floor from a seated position, and he tired easily.
When his parents took him to the pediatrician there were no immediate red flags. He was within range for his age, perhaps a bit developmentally delayed but with physical therapy he would catch up. But later Éloi’s day care teachers were concerned that he was not keeping up with his classmates and they noticed he had trouble navigating stairs. Another trip to the neurologist and a series of tests would confirm the worst. In November 2011 when Éloi was four years old he was diagnosed with Duchenne muscular dystrophy.
“Our world as we knew it just stopped,” says Breton-Paré. “It was devastating. My wife and I felt helpless.”
Duchenne muscular dystrophy (DMD) is a rare genetic, X-linked disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. Duchenne is part of approximately 150 neuromuscular diseases. It is the most frequent in pediatric rare diseases. DMD is caused by an absence of dystrophin, a protein responsible for regenerating muscle. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys (1: 3500) in the world.
A Dad Takes Action
As parents when something is wrong, we search for a fix. There is no cure for DMD but Breton-Paré says he needed to channel his sense of frustration and his energy. He wanted to find a way to help and that’s when he discovered a muscularly dystrophy firefighter fundraising event in Canada where he lives.
The “High Rise Challenge” consists of climbing 48 floors, 1125 steps of the Montreal Stock Exchange Tower. Breton-Paré climbs with firefighters, sometimes with firefighting gear on his back, sometimes with his son Éloi on his shoulders, and once with his younger daughter Rose. In the extreme version, with gear and oxygen mask, the climb can be made as many times as possible within five hours. In his five attempts Breton-Paré has averaged 11 times.
“This cause is very personal for me. As a family, we aim to control what we can," Breton-Paré explains. "The High Rise Challenge is a way to help Éloi and the 50,000 people living with a neuromuscular disease in Canada, including 15,000 children.”
Since he started six years ago Breton-Paré has climbed the tower 62 times and he has raised more than $150,000 earning him 5 trophies for best fundraising team. He is supported by two fire companies (Montmagny and Berthier-Sur-Mer), the latter named him an honorary fireman. (Follow Breton-Paré's progress here.) Firefighting organizations in the US and Canada have been supporting fundraising efforts for muscular dystrophy since 1954.
As a Dad, Breton-Paré knows the heartbreak of having a son with an incurable and often fatal disease. He describes it as if your child is drowning but you are incapable of doing anything about it. The life expectancy of someone with DMD is 25-30 years. As a clinical researcher, he also knows the importance of never giving up hope.
Search for Treatment
Breton-Paré is currently working with a pharmaceutical company on a novel immune-oncology therapy (pembrolizumab/Keytruda).
Keytruda is a new, revolutionary class of anti-cancer molecules that block the PD-L1 in order for the immune system to fight cancer. Breton-Paré is involved mainly in urology studies such as bladder, prostate and renal cancer at different stages. In his capacity as a Clinical Research Associate (CRA) at PRA Health Sciences, he is monitoring clinical data, ensuring proper conduct of the study and the appropriate dispensing of the study drug.
“What I am working on now is challenging but very rewarding," says Breton-Paré. "Until recently there were minimal to no treatment options and it has been exciting to witness great and sustained responses to this therapy in many patients.”
It is this kind of medical breakthrough that Breton-Paré hopes will someday help his son. After an initial frustrating search, Éloi is now enrolled in a clinical study. Every six weeks the family makes a full-day roundtrip visit to the study site for treatment.
“Éloi is part of an open-label Phase I-II study and he is improving. He has more energy and he barely falls anymore," Breton-Paré says. "As a parent, his most impressive change is his ability to carry our small dog in his arms which is something he couldn’t do a few months prior. His neurologist says he has never seen anything like it in a child at this age with DMD.”
It is this kind of medical breakthrough that Breton-Paré hopes will someday help his son.
The study is not a cure and it is too soon to be fully excited but life has improved since the beginning of the trial.
“If results continue to be significant across the board, it could buy us some time for a disease-modifying therapy,” says Breton-Paré.
Breton-Paré knows from his own professional experience that the clinical development process is a long journey. While there are exciting breakthroughs, there are also painful disappointments. He was thrilled to enroll the very first patient worldwide for a bladder cancer study—pembrolizumab was her last option. While the patient passed away two months after entering the study, Breton-Paré says her family was happy she had a chance. A chance is what he seeks for Éloi. “It is nothing, or you try something,” he says.
Facing the future together
Talking about DMD with his son is difficult. Perhaps nothing so challenging as the day Éloi began a conversation with, “When I’m a Dad…” He says there are no secrets between them but Éloi is still not of age to completely understand the implications of his disease. When he asks questions his parents answer them as best they can and to the degree they feel is most appropriate for their young son.
Like many boys his age Éloi enjoys playing video and board games, karate, swimming, reading books and simply spending time with his friends. While the family has adapted their new house to facilitate Éloi’s autonomy and to preserve his muscle function, his parents try hard not to let their son’s disease define him. “He does all the things he should do just at his own pace,” Breton-Paré says.
And so once again this year the Breton-Paré family will gather at the Montreal Stock Exchange Tower to climb all those steps. It is perhaps symbolic of the struggle they face but also emblematic of their resilience. “We’ve done all that we can control," Breton-Paré says. "Now we hope science will continue to evolve and help all the Élois of the world.”