BRUNSWICK, Maine — A Brunswick mom spent years navigating an endless journey of doctors, hospitals, and specialists only to find out by accident that not one but both of her sons had a rare genetic disease.
Donna Martin's two sons, Brad and Garrett, were diagnosed with a condition that causes bone marrow failure, a condition that has no cure. The family's journey is now featured in a new book to help other families struggling to help their kids with rare diseases.
Donna said Brad had several medical issues after he was born, including kidney and urethral problems, but it didn't keep him from experiencing a wonderful childhood, along with his young brother Garrett.
"Our house was just little league and playgroups, swimming, skiing -- just normal stuff," Donna said.
But at age 11, his hair and eyebrows started to go gray. At age 14, the nails on his hands and feet became pitted and discolored. After Brad underwent some routine bloodwork, his parents were caught completely off guard when doctors said Brad needed a bone marrow aspiration, which is a procedure that involves removing a small sample of bone marrow.
"They just had that look that they were going to deliver bad news and said, 'Brad has bone marrow failure,'" Donna recalled.
But finding out what was causing her son's condition was much more difficult.
Through research, Donna was able to link one of her son's symptoms, nail dysplasia, to a rare genetic disease called dyskeratosis congenita, also known as DC, where the bone marrow is unable to produce sufficient blood cells. There is no cure, and most people don't live past 16 or beyond 30 and are susceptible to certain cancers and organ fibrosis.
She wrote DC down as a possibility as the family continued to search for answers. After going to Dana Farber Cancer Institute in Boston to help Brad with his white blood cell count, doctors finally confirmed Brad's diagnosis of DC at the age of 25.
"I was really angry, not at anyone in particular, but I had been asking for five and a half years, 'Can we please just test for this?'" Donna remembered emotionally.
The family was blindsided again after extensive blood work revealed Brad's brother also has DC, but Garett's symptoms were not severe, and his numbers continue to remain stable.
"It's like you won the world's worst lottery," Garrett explained. "There are only 500 people in the world that have this, and you have really bad luck."
Donna also discovered she and her husband were carriers of the recessive gene that causes DC. They then had to watch Brad, who served as a volunteer firefighter in Yarmouth and a ski instructor who loved to travel, continue to decline. He passed away at the age of 33, on Nov. 8, 2019, while on the waiting list for a liver, double lung, and bone marrow transplant.
"It was racing against the clock, and his body didn't make it to transplant," Donna explained.
Donna kept a journal of her quest to save her son. Now that journey is chronicled on the pages of a book she wrote that was published earlier this year called, "You won't believe it (but it's true): One family's journey into a rare genetic disease."
"Everyone deserves answers, so hopefully this book will help them," Garrett said.
There's also another reason for hope. Brad's DNA will live on and may help find a treatment for DC. He was one of the first patients to participate in a study by Dr. Suneet Agarwal, a pediatric hematologist-oncologist and a staff physician in bone marrow transplantation at the Dana Farber Boston Children's Cancer and Blood Disorders Center.
"Using Brad's cells and others for the past almost decade now, and we are making progress. We did find a pathway that could be targeted with a small molecule," Agarwal said.
The promising research could lead to new pathways and potential treatments to save Garrett's life someday.
"The fact that it might help Garrett is remarkable, because science doesn't work that fast," Donna added.
It's a new hope as they try to move forward from a devastating chapter in their lives, while at the same time honoring a vibrant young man who loved giving back to his community and the outdoors.
The Brad Martin Memorial Golf Tournament will be held Aug. 12 at the Toddy Brook Golf Course in North Yarmouth. All the proceeds will go to the ongoing study at Dana Farber, to help find a cure for dyskeratosis congenita. For more information go here. For resources, support, and clinical guidelines regarding DC, you can go to Team Telomere.