A child was born in a Canadian city with a very rare genetic condition to the extent that it doesn't even have a name, prompting the mother to plead with doctors for more research on a treatment for her son's genetic condition. Lucinda Andrews, 32, from Chatham in Kent, Canada, gave birth to her baby Leo on March 5 at Midway Marine Hospital after a normal pregnancy. Shortly after his birth, doctors realized he was not moving his arms and legs. He was floppy and did not turn his head from side to side. Further tests revealed that Leo suffers from a genetic condition affecting the TBCD gene, which encodes a protein, and is extremely rare, with no name thus far.
Lucinda expressed her desire for the doctors to conduct more research to find a treatment for Leo, who cannot cry, suffers from seizures, and has breathing difficulties due to this mysterious condition. Leo was quickly transferred to the neonatal intensive care unit (NICU) after birth. He was then moved to St. Thomas Hospital on March 11 for specialized care. There, doctors realized Leo might be suffering from a genetic condition, leading to more tests that confirmed he has the condition affecting the TBCD gene.
Lucinda noted, "The doctors told me about the type of condition, but it is so rare that it does not even have a name yet. They told me a lot of things that could happen, and it was horrible." His condition means Leo has breathing difficulties and cannot cry. The six-month-old baby's brain is also affected by this condition, and he has begun experiencing seizures.
Currently, the main treatment for the infant is physical therapy, which Lucinda conducts at home to promote his movement. She also takes her son to the pool for daily aquatic therapy exercises. Lucinda stated that she has not been informed of what Leo's diagnosis could be, and no one knows how serious this condition is since it is so rare.
While treating her son in the hospital, the mother has focused her time on research, sending emails to specialists worldwide every week. Very little is known about Leo's condition online, and Lucinda says she is learning more about it over time. She hopes to conduct more research into this condition so that others like Leo can be helped and treated.
She remarked, "I reached the point where I didn't know what to do to help him. I can't blame anyone at St. Thomas Hospital. They have all been wonderful... just because the condition is rare, there is nothing medical they know." After sharing her story on social media, Lucinda found six other families with children suffering from the same genetic condition. This helped her feel supported and continue her search for specialists for Leo's treatment. She believes that scientists can develop a treatment for her son and others like him.
Lucinda indicated that she has been in contact with molecular biologists because molecular drugs exist and could potentially be repurposed to create a treatment. She is organizing the "Walking Around the World for Leo" campaign to raise awareness about his condition and assist other families affected by the TBCD gene mutation.
