U.S. clinical trial provides hope for Tecumseh girl with rare disease
Michaela Kameka (centre), diagnosed with a rare genetic disease, is taking part in a clinical trial this summer in New York. (Sacha Long / CTV Windsor)
Published Friday, June 16, 2017 4:37PM EDT
A 12-year-old Tecumseh girl, diagnosed with a rare genetic disease, is taking part in a clinical trial this summer in New York.
There is no cure for Sanfilippo syndrome, so the family of Michaela Kameka says this opportunity brings a ray of hope treatment through this clinical trial could give Michaela more time and a better quality of life.
Her parents say it’s her one last chance for survival.
“People forget, she's dying basically. She's dying,” said her mother, Ann Kameka.
Kameka was born healthy, but as she grew, she started to lose skills and abilities she had already gained. Her mother knew something was wrong. After three and a half years of searching for answers, Michaela was diagnosed.
“She had just turned four when we discovered she has a rare genetic disease called mucopolysaccharidoses (MPS) type IIIB also known as Sanfilipo syndrome,” says Kameka.
One in 70,000 children is born with this rare genetic disease, caused by an enzyme deficiency. In Michaela's case, her body is unable to break down a specific line of sugar molecules.
“By age six, they lose all language, by 10, they are wheelchair dependent and somewhere in mid-teens they just lose their life,” she says.
The disease has already taken away Michaela's ability to speak. She requires care for all of her physical needs including bathing and feeding and she has difficulty walking because of stiffness in her joints.
“We are keeping her as healthy as possible,” says Kameka. “She is 12 years old and still not in a wheelchair, that’s a huge accomplishment for us. She is still able to laugh or enjoy a joke.
There is no cure for this fatal disease, but researchers are working hard to identify therapeutic treatments through clinical trials
Now, there is hope for Michaela.
“It buys us time, it either stops disease in its tracks or it turns clock back, which is what we are banking on,” says her father Glenn Kameka.
Michaela is one of six children around the world chosen to take part in a clinical trial this summer, at Columbia university in New York.
“Hold disease at bay to point where we will qualify for a genetic therapy, which is in the works, which is looking like a cure for this disease,” says Kameka.
Michaela will have to undergo weekly intravenous infusions. All medical costs are covered, but the family is required to pay for their transportation to and from New York for six months.
The family is hoping to raise $40,000. A Go Fund Me page has been set up. So far, over 7,000 has been donated.
“We've determined, no matter what, we're going ‘how can you say no,’” says Ann Kameka. “This has been the first ray of hope. It’s actually real.
Ann has already taken a leave of absence from her teaching job, to care for Michaela.
A number of other fundraisers are taking place, including a volleyball tournament on July 8 at John Max on Lauzon Road, there's also a family music festival with a date still to be announced.