Medical discovery give hope to mother, daughter with rare disease

Doctors at Toronto’s Hospital for Sick Children have made a new discovery that they hope will help a mother and daughter who suffer from the same mysterious autoimmune disease.

Since she was an infant, Sonia Chopra spent years as a hospital patient, being treated for a rare disease that doctors could not identify. Three decades later, her daughter, Amrita, is suffering from the same condition.

“She woke up one day with some pain,” Chopra said, noting that Amrita’s illness developed just as hers had.

Their disease is so rare it doesn’t even have a name. And, until now, doctors didn’t know what caused it.

But doctors at Sick Kids recently discovered a genetic mutation that causes the illness – something that could be a first step in treating the disease.

“It turned out that there were some families discovered by a chest doctor in Texas and he talked about his gene mutation,” said Dr. Ron Laxer, one of the physicians treating Amrita. “Physicians from our team here realized that the disease sounded very similar.”

The discovery allows doctors to start zeroing in on more effective treatments for the illness, and hopefully, eventually, a possible cure.

For Chopra, the news makes her hopeful that her daughter will be able to grow up without having to suffer.

“After 36 years, to get an answer as to what causes this to happen is definitely a huge accomplishment,” she said.

With a report from Pauline Chan