In November 2019, little Elena and her family participated in our studio recording for the Not So Rare campaign. Elena and her parents were so committed to our cause that they didn’t hesitate to make the return trip between Quebec City and Montreal, more than 4 hours away, to participate in our video shoot. Almost a year later, on November 21, 2020, at 8:15 a.m., Elena took her last breath. We write this article to pay tribute to this courageous family and to raise awareness of the reality of ultra-rare diseases.
Alone in the world with her illness
Some diseases may affect only a few dozen people in the world. They are said to be “ultra rare”. This is precisely the case with Elena’s disease, a genetic neurodegenerative disease linked to the AGTPBP1 gene. The disease, which does not yet have a name, was discovered in Germany in June 2019, just a few months before Elena’s diagnosis. The little girl was the only registered patient in the world. When a disease is so rare, there are extremely few dedicated resources, and other patient histories are non-existent. Everything can change at any time.
The poignant testimony of a mother
“November 21, 8:15 am. Her last breath. I look at her, I wait. I hope she will take another breath. I wait… I put my hand on her heart. It is no longer beating. It is the end. The end of her life on earth, the end of her fight, the end of my worries, but above all, the end of her pain. ” – Carolanne Fillion, Elena’s mother
Little Elena’s last days, as told by her mother
“On November 17, we were getting ready to spend a short stay at a hotel. The phone rang, and I was asked to pick up my daughter and go to the emergency room. The night in the hotel turned into a night in the hospital. After only twenty minutes, three different people had asked me if we would accept resuscitation, if there were complications. I said no to resuscitation!
After a few tests, the results come back: pneumonia and several other problems, related to the neurodegenerative disease. The next morning, November 18, they transferred our little girl to the pediatric hospice. We weren’t quite sure if this was the end. She started medication to take away the pain. On November 19, her condition was stable, and there was still a chance that she would be okay. She was only receiving medication and had not had anything in her stomach for two days.
On November 20, medication doses were increased very quickly to dull her pain. Her condition began to deteriorate rapidly. Our immediate family had to act quickly. Then, at 8:15 a.m. on November 21, Elena took her last breath. I look at her. I wait. I hope she will take another breath. I wait. I put my hand on her heart. It is no longer beating. It is the end. The end of her life on earth, the end of her fight, the end of my worries, but above all, the end of her pain. “
A crying need for resources for “ultra rare” diseases
Ultra-rare diseases are even more difficult for health professionals to diagnose and for affected families to live with than are rare diseases.
Canada is one of the few industrialized countries that does not have a national strategy for rare diseases. Yet 1 in 12 Canadians suffers from a rare disease. A national strategy would be a first step in getting our healthcare system to recognize the severity and prevalence of “ultra-rare” diseases like Elena’s.
We therefore invite you to sign our petition to urge the government to establish a rare disease strategy in Canada.
Some diseases may affect only a few dozen people in the world. They are said to be “ultra rare.” In her case, Elena was alone in the world with her disease.