Debra Gonzalez knows more about sickle cell disease than she ever wanted to have to learn, and she’s putting her hard-earned knowledge to good use.
A long-time member of the St. Thomas-St. John Sickle Cell Disease Parent Support Group, Gonzalez is helping spearhead the effort to rejuvenate the organization.
She credited Patricia Penn, a nurse working at Maternal Child Health, with starting the group in the mid-1980s.
“She felt a need for education and support for parents with children going through the sickle cell episodes,” Gonzalez said, adding the need is still critical.
An inherited blood disease that can cause periodic and sudden painful crises and long-term organ damage, SCD is caused by an abnormality in the hemoglobin gene that affects the cells that carry oxygen through the blood, making them misshapen, sticky and rigid, with the result they periodically block the flow of oxygen.
Sickle Cell primarily affects families with origins in sub-Saharan Africa, although it is also seen in people with roots in other parts of Africa, India, Saudi Arabia and elsewhere.
The U.S. Department of Health and Human Services estimates that about 100,000 Americans have Sickle Cell Disease. One in 13 African Americans are born with the trait, meaning they carry it although they don’t exhibit the symptoms; one in 365 African Americans are born with the actual disease.
Attempts to get statistics for the Virgin Islands were fruitless, but experts say the incidence is high.
“I got involved (with the support group) in 1995 when my daughter was born,” Gonzalez said. “They test babies in the hospital ever since 1987” and that test – plus a second one to confirm the results – delivered the bad news. “It was hard” to cope with the diagnosis, she said.
“My daughter had her first crisis when she was nine months old,” Gonzalez recalled.
There is little or no warning of Sickle Cell episodes and their frequency varies considerably, depending on many factors. They are characterized by pain, often extreme, and weakness. There may be other symptoms, such as swelling.
“It could be once, twice a month, it could be three or four times,” Gonzalez said, “or there may be nothing for six months.”
Strenuous physical activity, heat and dehydration are often triggers.
Gonzalez said she found a lot of comfort within the support group as well as a lot of practical knowledge.
“Basically we were able to share information,” she said. “They could tell me things to watch for, (such as) seeing her holding a joint, or seeing swelling.” If she developed a cold with a fever, “get to the emergency room right away.” There, she could be hydrated intravenously and receive pain medication.
As the name implies, the St. Thomas-St. John Sickle Cell Disease Parent Support Group concentrates on educating and helping families to cope with the disorder. However, it also plays a role in educating the wider public about the disease.
Gonzalez said the group has sponsored walk-a-thons and bake sales and raised money to help SCD families pay for medication. Recently she and her daughter joined Dr. Erole Hobdy on a local radio show exploring the topic of Sickle Cell.
The group is still meeting once or twice a month at the MCH clinic in Nisky Center, although its membership has dropped from a high of about 20 people to just five or six, and paperwork has been allowed to lapse. Gonzalez speculated that early members have drifted away because their children are grown now and on their own. But she believes there are younger parents who could benefit.
“Right now we’re trying to get our 501(c)(3) – non-profit – status back in good standing with the Lieutenant Governor’s Office” and get new officers in place, she said.
“There’s a tremendous need for this group,” said Kimberly Jones, spokeswoman for the V.I. Health Department, adding that she met recently with officials of the national Center for Disease Control in discussions that included Sickle Cell. She said the territory’s Health Department plans to launch a public awareness and education campaign this summer.
Jones was unable to provide statistics on the disease in the Virgin Islands, however.
“Right now the numbers are fractured,” she said, adding there is “no central place” for gathering pertinent data.
Nationally and internationally, awareness has been growing in recent decades, and there also has been some push for reducing the numbers of people affected by Sickle Cell by modifying the behavior of those carrying the trait.
Statistically, the child of a man and woman who each carry the trait, has a 50 percent chance of being born with the trait but not the disease, a 25 percent chance of being born without the trait, and a 25 percent chance of being born with the actual disease.
There has been some limited success with bone marrow transplants, but a practical cure is still elusive. As scientists learn more about the disease, the fight against it has progressed rapidly and treatment continues to improve and to mitigate the complications that used to be fatal. Less than 50 years ago, in 1973, the average life expectancy for someone born with sickle cell disease was just 14 years, according to a U.S. Health and Human Services. Today, it’s 40 to 60 years – and research is continuing.
More information about the support group, including information on how to join, is available by phoning Gonzalez at 340-998-5256.