Within the next few months, newborns in Quebec will be systematically screened for severe combined immunodeficiency (SCID), which should considerably improve the prognosis of those suffering from this rare disease.
Quebec is one of the last places in North America where systematic screening is not offered, as it is in all American states and several Canadian provinces.
Babies with severe combined immunodeficiency lack an immune system, making them vulnerable to the slightest infection. Their life expectancy is less than a year without treatment.
The disease is often detected when the baby begins to present various health problems, such as stunted growth, diarrhea or repeated infections. Gene therapy is possible in some cases, but the usual treatment is a bone marrow transplant to give the little patient an immune system.
"These are difficult treatments, and survival after these procedures, particularly the bone marrow transplant, was around 70 per cent," said Dr. Élie Haddad, from the CHU Sainte-Justine. "We had already published in the past that we couldn't get above this 70 or 75 per cent."
But a study recently published in the medical journal The Lancet by Haddad and his colleagues clearly shows that the survival rate increases significantly up to 92.5 per cent after transplant if SCID is detected at birth, rather than after the baby has been sick several times.
This report by The Canadian Press was first published in French on June 22, 2023.
