By Jane Keller Gordon, Contributing Writer
Southborough – Mark Borreliz, 63, is living an extraordinary life, in spite of and because of his severe hemophilia.
Over his lifetime, Borreliz has seen tremendous improvements in the treatment of hemophilia, a family of rare inherited bleeding disorders. According to the National Hemophilia Federation (NHF), there are approximately 20,000 people living with the disease in the U.S. and 400,000 worldwide
“When I was born the life expectancy was 20 years. Now it’s near normal. We are watching the first wave of oldest patients — near septuagenarians — to see where it goes,” said Borreliz.
He and his wife have raised their daughter and son in Southborough. A healthcare lawyer in Boston, Borreliz has given back numerous times through the New England Hemophilia Association (NEHA), and now as board member of the NHF.
Borreliz said that his excessive bleeding was evident when he was a baby, and he bruised easily as a toddler. His diagnosis was delayed, according to Borreliz, because he was an army brat with limited access to pediatricians and hematologists.
When he was 4, Borreliz was admitted to the San Antonio Military Medical Center in Fort Sam Houston, Texas, where he was diagnosed with Hemophilia A. This is most common form, which almost always occurs in males since it is caused by a recessive mutation on the X chromosome.
Growing up, Borreliz lived in New Mexico, Texas, Germany, Pennsylvania, Maine and Hawaii, where his father grew up on a sugar cane plantation in Kauai.
He was not allowed to participate in sports. As a result, he said, “I have skinny legs.”
Despite lack of exercise, Borreliz has had serious orthopedic damage from bleeding into his joints.
Borreliz produces less than 1 percent of the normal level of Factor VIII, a protein crucial to clotting. As a child, he was treated with infusions of whole blood, then plasma, and eventually Factor VIII from pooled plasma donations.
He said that he was fortunate to attend high school in Hawaii. Whatever Borreliz lacked in athletics, he more than made up in academics.
Borreliz graduated from Harvard University and Harvard Law School. Early in his career, he worked as a healthcare litigator.
Now at Verrill Dana LLP, “… he helps providers of patient care and entities that conduct biomedical research understand, anticipate and resolve regulatory compliance issues,” according to the firm’s website.
His work through NEHA and the NHF had been extremely satisfying, said Borreliz. He has seen NEHA grow to a professional organization with full-time staff.
He joined the NHF Board about two-and-a-half years ago, and is now secretary.
“It’s a very professional board, well constituted, I am in awe of the people who serve,” he commented. “As a foundation we fund researchers and clinical fellowships… We lobby Congress to fund comprehensive hemophilia centers.”
NHF’s recently completed visioning process has identified five priority areas, according to Borreliz. One is a greater emphasis on research (including gene therapy), in which he hopes to have an active role.
“It’s a handy confluence of what I know,” he said.
Borreliz emphasized that research has led to breakthroughs in the treatment of hemophilia.
“(Since 1992) Factor VIII is made as a recombinant product – synthetic – no human blood is involved,” he said.
The protein is available in a freeze-dried powder form, which is reconstituted with sterile water and injected into a vein. Borreliz said that the protein, which used to last 24 hours, now has a longer half-life, as long as three days. Many patients, including Borreliz, self-infuse two or three times a week.
“It changes everything,” said Borreliz. “Children can have a more normal childhood. They can play sports. It’s hard to explain what the old days were like.”
He added that the Affordable Care Act has been extremely valuable to hemophiliacs, in that it eliminates lifetime caps and insurance disqualification based on pre-existing conditions.
Borreliz is optimistic about even more advancements in hemophilia treatment. He has found an inspirational community of people with bleeding disorders.
“I am not letting this define me…,” he said. “Everyone is dealing with this or something else.”