Patrick Burling (l) and his brother Christopher have been enrolled in an NIH study of hereditary hemochromatosis (HH) for the past year.
Maureen and Ronald Burling are also enrolled in the HH study because their genes indicate that they have a milder form of the disorder than Patrick or Christopher.
The Burlings learned the hard way about HH, a disorder that, according to Dr. Susan Leitman,
chief of DTM’s blood services section, is one of the most common single-gene hereditary
diseases in the United States, affecting 1 in 200 Caucasians of northern European descent. Leitman thinks every teenager in the U.S. ought to be screened for it, and Patrick’s story tells why.
“One year ago, Patrick was incapacitated with hip pain and debilitating fatigue, exhaustion and depression,” Leitman recalls. “He had an ashen grey, sickly complexion. He had to take a leave of absence from his job due to pain and disability.
“One year and 51 blood unit donations later
[all of which were used to benefit CC patients],” she continues, “he is a new person—
golfing, walking, full of energy, depression
gone and his complexion is rosy pink—that happens after we remove the excess iron which deposits in the skin.”
Because HH is a genetic disorder, the entire Burling family has been evaluated here. Joining
Maureen and her husband Ronald on the CC protocol are two of their six sons, Patrick and Christopher, who share the strongest genetic susceptibility.
Patrick, now 36, had been a four-sport high school athlete, and was the kicker on Villanova’s football team from 1989 to 1993. When not working as a counselor at the Vanguard School, a facility for special-needs children in Malvern, Pa., he taught kickboxing and aerobics.
During the summer of 2006, he began experiencing
deep fatigue that would send him straight to his recliner after work and to bed as early as 7 p.m. He also suffered chronic hip pain that prompted him to take heavy doses of Advil and Tylenol. “I was wondering, geez, why do I feel so bad?” Patrick recalls. “Why is my body falling apart?”
At his mom’s urging, he got a physical, which turned up unusually high levels of iron and elevated
liver enzymes, the latter most likely due to overmedication with painkillers.
In hindsight, the symptoms of yet-undetected
HH were clear, including the hip pain which, Leitman reports, is a consequence of iron overload.
The Burlings had attributed Patrick’s tiredness
to a stressful job, his aches and pains to a strenuous athletic career and his weathered complexion
to the fact that, as a teacher, Patrick has summers off and is outdoors often—he proudly
notes that he caddies at Aronimink Golf Club, ranked 31st in the nation’s top 100 golf courses.
His local doctor ran genetic tests and diagnosed HH, but by then Patrick’s hip pain was so severe that total hip replacement was scheduled.
Patrick’s mother, an occupational therapist, had never heard of hemochromatosis and immediately
set about doing Internet research on the disease.
“I looked online and found a Hemochromatosis
Society somewhere in South Carolina. They advised me that, if I lived anywhere near NIH, I should go there.”
Looking up NIH on the web, she quickly found a study on HH that was recruiting new patients. Maureen phoned Yu Ying Yau, a DTM clinical research nurse, and reported Patrick’s iron levels.
“She said, ‘Wow, that’s really high—let’s get him in here.’”
Maureen was worried that this new thing called HH would complicate Patrick’s hip replacement, which took place only 5 days after he first visited
NIH. But DTM caregivers advised her that the diagnosis would not preclude successful surgery
and further assured her that Patrick’s red-cell donations would be used to benefit other CC patients, not discarded, as is common at some other medical centers.
Patrick says it took about 3 months for phlebotomy
therapy to take noticeable effect, but now he feels more energetic, experiences normal, rather than extreme, fatigue and feels far better, overall, than he did a year ago.
“We have been so happy with the results, and the care and the people at NIH,” Maureen said recently. “I can’t say enough about the care we have received. It’s a good mix of people, personalities
and medical care…it’s been such a good experience.”
She thinks nothing of the 3-hour drive between Philly and Bethesda, joking that she once ran out of gas. She admits some embarrassment about sometimes accompanying an adult son on the trips, but worries that Patrick will be tired after his donations, which are actually double red-cell apheresis, in which two units of red cells are removed and his plasma is returned.
“I was worried about him driving, especially after his hip surgery,” says Maureen, adding that she would miss NIH if she didn’t continue
to visit; her donation schedule is not as frequent
as Patrick’s. “I feel like everybody [at the Blood Bank] is my friend.”
Patrick, too, knows he could donate red cells at a hospital closer to home, but has grown accustomed
to the faces at DTM. “I’ve developed a relationship with the girls in the Blood Bank,” he says. “Everybody from the guards at the gate to people you run into in the hall are personable,
happy people. I’ve never felt like a guinea pig or a rat.”
DTM’s Leitman calls Patrick “a walking advertisement
for why we should screen all Americans
in their late teens for high iron levels. Most of what happened to him would have been preventable if he had started phlebotomy therapy
at age 18 instead of 35.
“By the way, even in a great medical city such as Philadelphia, expert care for HH subjects is not available,” Leitman continues. “Incredible but true. Medical understanding and interest in HH is still at a fairly primitive level in many places.”
So thorough was the family’s medical evaluation at NIH that Maureen’s mother was eventually diagnosed—following blood work at DTM that raised questions—with multiple myeloma and is now receiving treatment.
“I’m the biggest advocate for NIH,” boasts Maureen,
who has been recruiting not only family members but also others to get tested for HH. “At NIH we have been treated with the utmost care, concern and kindness by all of the staff. The medical care is beyond our expectations. We have been made to feel comfortable and part of the family. When we began this journey into the unknown world of HH, we fortunately found the best facility for care. We are not only getting the treatment we need but are also able to help others by having our blood donations used for the care and treatment of others.”