A Moncton man is living with a rare disease that only affects one in a million people worldwide.
Randy Pentland was first diagnosed with Dyskeratosis Congenita in 2009.
“I had noticed I had some problems with my skin so I went to my doctor and he forwarded me to a dermatologist.”
Further testing revealed Pentland had the gene for Dyskeratosis Congenita - an inherited disease he didn’t know ran on his mother’s side of the family.
“They tested her tissue sample and it matched and they found the same disease-causing gene that I have, and she also had it.”
Dr. David Skidmore, a geneticist at the IWK Health Centre in Halifax, says each chromosome in the human body has a cap on the end called a telomere and that as we age, those caps shorten.
“In Dyskeratosis Congenita, the rate of that shortening is much advanced,” says Skidmore. “People will begin to develop symptoms that you usually only see in people who are in their 80s or 90s in their 30s.”
He says most of the effects of Dyskeratosis Congenita are associated with premature aging.
“Ninety per cent of individuals with a diagnosis will have bone marrow failure by the time they’re 30, which would be something you might expect to see in someone in their 90s or beyond.”
Pentland lives with blocked tear ducts, hyperpigmentation on his skin, and problems with his liver and blood.
Skidmore says the disease is commonly misdiagnosed or missed altogether.
“The diagnosis is probably very delayed in most people because those symptoms don’t cause any health problems, and they’re usually ignored until something like liver failure or bone marrow failure comes to light.”
Looking back, Pentland says there were always clues.
“I’ve had the nails, the ridging of the nails, ever since I was an infant. I’ve always been tired.”
Because the condition is incurable, most of the treatments are supportive, and try to undo the damage that has already been done.
“If they develop bone marrow failure, giving them blood products like platelets or blood from donations,” says Skidmore. “If they develop liver failure, transplants.”
For Pentland, treatment means participating in a drug study in the United States every six months. He says the treatment is helping with his energy, but it’s still not perfect.
He also realizes there is a possibility he may need a bone marrow or stem cell transplant, but is optimistic it won’t come to that.
“There’s no cure for Dyskeratosis Congenita, so I just want to remain stable with keep on living.”
