Suffering from a rare genetic disease from which he is the only one to suffer in Quebec, little Samy, 16 months old, is already destined for a different life, but promising research carried out in Sainte-Justine could allow him to improve his daily life, hope his parents.
“We do not accept it and I do not know if one day we will learn to live with this disease, launches Aziz El Fara, the baby’s father, his eyes red. He is our whole life. Her little chirps and smiles, that’s real happiness. “
The small family from Laval received Le Journal a few days ago in a chalet where they have been confined since the start of the pandemic. While many do not want to catch COVID-19, the El Fara fear it more than anything, since it could be fatal for their child.
Little Samy has Roifman syndrome, an orphan disease that mainly affects his immune system, bones and eyesight. There are about ten cases across the country. It is almost certain that he will grow up with some form of dwarfism, immune deficiency, intellectual disability and learning disabilities, explains Dr. Philippe Campeau, geneticist at the Sainte-Justine University Hospital Center in Montreal.
Already, at 16 months, Samy’s parents and medical team have noted several differences and delays in his development and these are likely to multiply over time. This does not prevent the cute blonde from being very sociable, in particular by extending his arms to the representative of Journal upon his arrival in addition to sending him a few puffed kisses during the interview.
“It’s hard to feel so helpless,” says El Fara. It affects me a lot psychologically. Dr. Campeau’s research is the first glimmer of hope we have had since his birth. “
For now, Samy has to have an immunoglobulin transfusion every week. This is made from donated plasma and is essential for the survival of the toddler.
Currently funded research could allow the development of other less demanding treatments for the little one (see other text). For now, he is doomed to receive these transfusions for life.
“Hence the importance of donating plasma,” explains Mr. El Fara. We appeal to all. Donate if you can. “
Although Héma-Québec does not note a shortage for the moment, the effectiveness of the product has caused demand to explode in recent years. She therefore invites Quebeckers to become donors in order to avoid running out of them.
Some studies also claim that plasma could be considered in the fight against COVID-19.
Aziz El Fara, investigator with the Laval police, and his wife Vanessa Déniger, esthetician owner, have been on sick leave since the birth of their son in order to take proper care of him. Their priority remains their boy, but welcoming a new child in the future is a dream they cherish.
Plasma donation in Quebec in figures
- More than 14,000 donors
- 469,586 drugs made from plasma
- Plasma can be donated every six days, while blood can be donated every 28 days for men and every 56 days for women.
- It is used to treat certain cancers, immune diseases, liver disease, severe burns and people with hemophilia
- In five years, the number of plasma donations has more than tripled
- 79% of the plasma needed to manufacture medicines comes from abroad
Source: 2018-2019 statistics from Héma-Québec
In the hope of developing a cure, a geneticist at Sainte-Justine hospital intends to create a mouse with the same syndrome as little Samy in order to study it.
“We are very happy that parents are getting involved in research because it could help us better understand his disease,” says Dr. Philippe Campeau, a doctor specializing in genetics. It is extremely expensive to do research. Running a lab like mine can cost anywhere from a quarter to a half a million a year. “
Hoping more than anything to discover a cure for his son, the father of little Samy launched, with the support of the CHU Sainte-Justine Foundation, an online fundraising campaign. This aims to raise $ 50,000 to allow Dr. Campeau to launch his study. So far, it has raised almost $ 30,000.
With the money, the geneticist could first create stem cells from Samy’s blood, which would help to better understand which genes are affected. Then, a mouse could be generated in the lab to have the same syndrome as the baby.
“It would allow us to do a lot of things that we cannot do in a patient, such as studying his bones, his cartilage”, illustrates the doctor.
- To help with research on Little Samy’s orphan disease: https://www.fondationstejustine.org/fr/ (in the menu, go to Online Fundraisers, then type “Samy” in Support a Fundraiser)
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