If Cristina Di Corte can’t find a bone marrow match, her life is on the line because of a genetic disease so rare that most doctors haven’t even heard of it.
Family and friends of the 22-year-old Mississauga woman are taking to Facebook and Twitter to get people to register as potential donors at www.onematch.ca. A simple cheek swab will determine if someone’s a match.
Di Corte, who used to work as a full-time hairdresser before effects of the disease made it impossible for her to continue, is one of only 70 people in the world diagnosed with mitochondrial neurogastrointestinal encephalopathy (MNGIE).
MNGIE hits the digestive and nervous systems. The muscles and nerves that move food and waste through the digestive system are hit, so anything eaten just rots in the body.
That results in dangerous weight loss, trouble swallowing, vomiting, diarrhea, pain, intestinal blockage and nausea.
At the same time, muscles and nerves in the arms and legs start to act up — with tingling and numbness and loss of feeling. The numbness and exhaustion have kept Di Corte, a St. Joseph Secondary School graduate, from working at the Erin Mills Town Centre salon where expressing her creative passion for hairstyling gave her immense pride and pleasure.
The symptoms started right after she graduated from high school. For four years, doctors thought she might have eating disorders, irritable bowel syndrome or celiac disease. Last year, genetic testing confirmed she had MNGIE.
Di Corte can’t eat or drink. Fluid, nutrition and medication come via a central catheter line.
She still feels exhausted, but Brittany Russell, her best friend since the two were 14, said Di Corte’s creativity is still there — as is her puckish sense of humour.
The catheter line helped bring Di Corte’s weight up to 85 pounds from a low of 66 pounds last year.
Hearing people complain about how hard it is to lose weight drives her crazy because she’d give anything to be able to put on 20 pounds.
“Every year it’s gotten worse,” said Di Corte.
A bone marrow transplant won’t cure her, but it will stop MNGIE’s progress and prolong her life. It could enable her to live to 60.
A bone marrow match has not been found among her father, mother or brother. Her best chance for a match is from a male between 17 and 35 years of age.
Once a donor match is identified, Di Corte will go through a round of chemotherapy to kill off her marrow cells, and then the donor’s will be injected into her.
With luck, Di Corte would then recover in a few weeks.
Di Corte’s brother, Anthony, is part of a Twitter campaign trying to drive interest in match registration. On his Facebook page, he asks people to “tweet” something about his sister with a hashtag #HopeForCristina.