Article featuring Sandra Thomas March 2000, in the City Link Newspaper- guide
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IN NEWS
Irish in the blood
Although often misdiagnosed, an ancient blood disease is still making its
presence known in those of Irish extraction.
by Colleen Dougher
Sandra Thomas loves a good St. Paddy’s Day party.
It’s not the great Irish music and dance, the corned beef and cabbage, or even
the abundant supply of Guinness. It’s just that having all those people of
Celtic heritage gathered in one place makes her mission so much easier.
For 16 years, Thomas, who runs American Hemochromatosis Society out of her
Delray Beach home, has been using St. Paddy’s Day as a way to tell people about
what she calls "The Celtic Curse," a disease that deposits iron in the heart,
joints, liver, pancreas and pituitary gland, and eventually "rusts" the insides
of bodies.
Her group does everything from distributing literature at Irish festivals to
placing fliers in Palm Beach County Irish pubs and using the opportunity to
contact the media about this common, yet little-known genetic disorder.
While no one is immune to hemochromatosis, those with Irish, Scottish or
British heritage have a significantly higher chance of carrying the gene
mutation that may cause them to develop the potentially deadly disorder.
Some researchers believe that hemochromatosis originated more than 40,000
years ago in the area we now know as Ireland with a single person whose genes
mutated so that he or she could over-absorb iron to compensate for an iron-poor
diet.
Today, with iron-enriched foods, iron supplements and plenty of red meat,
there’s no need to pull in extra iron, yet many still carry the ancient mutated
genes that cause their bodies to do so, at toxic levels. Left untreated,
hemochromatosis can lead to everything from early menopause and infertility to
diabetes, heart failure, cirrhosis, primary liver cancer and even death. But if
caught before damage is done, hemochromatosis patients can be saved, and their
health restored through a process called bloodletting, or phlebotomies.
Initially, a patient may be required to have a pint of blood drawn once or twice
a week, until excess iron is depleted. Each time blood is drawn, the brain tells
the red blood cells they need iron, so the blood taps the iron
stored in organs and tissues. Eventually, and sometimes this takes a few years,
the stores of iron are depleted. Afterward, a patient will be required to have
phlebotomies maybe three or four times a year to keep iron from
accumulating.
Despite the simple cure, many hemochromatosis patients remain untreated and
die from diseases caused by iron overload. Even though many exhibit symptoms and
simple, relatively inexpensive tests are available, they’re often not
administered.
The Centers for Disease Control now calls hemochromatosis the most common
genetic disorder in the United States, one that affects 33.5 million Americans.
An estimated 32 million are silent carriers, meaning they exhibit
no symptoms, while 1.5 million have a double gene mutation because both
parents carried the mutant gene, which puts them at high risk. Yet many doctors
still believe what they were taught in medical school — that
hemochromatosis is a rare disorder that only strikes middle-aged or elderly
white men. "They want to see someone who’s at death’s door before they can
actually consider hemochromatosis," Thomas says. "And that’s the old training,
this middle-aged man coming in with a swollen belly, enlarged liver, cirrhosis
of
the liver, jaundice, diabetes, heart bad. That’s hemochromatosis."
But since the genes that cause hemochromatosis were discovered in 1996,
several studies have been done that revealed that women, once thought to be
spared from the disease because they lose excess iron when they menstruate each
month, are not immune from the disease. Nor are African-Americans, Hispanics, or
children. In fact, no one is immune, and people in their 30s —and some even
younger — are already dying by the time they’re diagnosed.
Yet experts also have discovered that if treated early, damage to organs and
tissues is completely preventable. Ask a doctor about being tested for the
disease, however, and there’s a chance you’ll be laughed out of the office.
Teach your doctor well But Thomas, whose mother died of liver cancer caused by
iron overload, isn’t laughing. Nor are others who struggled for years to find
out what was wrong with them, only to be diagnosed too late.
Sixteen years into her awareness campaign, Thomas, a silent carrier of the
disease, still finds herself talking to people whose doctors know they have high
iron levels and won’t treat them because they don’t have what they
believe to be the classic symptoms (i.e., they’re not at death’s door).
In 1997, a year after researchers isolated the mutated genes that cause
hemochromatosis, a genetic mail-order test was developed that allows people to
be screened for the disease. Those who test positive for the gene can keep
their iron levels in check, and prevent iron from ever invading their organs and
destroying their lives.
Thomas is on a mission to make people aware of the $125 test, as well as simple
blood tests (serum iron, total iron binding capacity and serum ferritin) that
doctors seem so reluctant to give.
It’s not that there’s a conspiracy against patients with iron overload. It’s
just that many doctors haven’t been educated about the latest facts regarding
the disease. And since people aren’t routinely tested for iron overload, doctors
must be able to recognize warning signs. Unfortunately, the symptoms of
hemochromatosis are often serious diseases themselves, and doctors wind up
treating the heart trouble, the diabetes or the liver cancer without looking for
an underlying cause.
In other cases, symptoms are all over the map, ranging from elevated liver
enzymes, cirrhosis, tender swollen joints, heart problems, changes in skin
pigmentation (turning bronze without going to the beach), depression, increase
in blood glucose levels, a swollen stomach or a heavy feeling (mostly on the
right side of the belly), redness in the palms of the hands, an enlarged spleen,
chronic fatigue and, believe it or not, anemia.
While it may seem unlikely that someone with anemia, which we’ve been trained to
think of as iron deficiency, could suffer from iron overload, they can.
One may be anemic (meaning the blood has a deficiency of red blood cells) and
still have loads of iron stored in their organs. Yet, many think nothing of
popping iron supplements without knowing their iron storage levels, and some do
so on the advice of their physicians.
Roberta Crawford, who heads the Iron Over Diseases Association in North Palm
Beach, nearly killed herself with iron pills prescribed by doctors. While they
diagnosed her with anemia, they never tested her iron storage levels.
Years later, she would learn that her body was storing too much iron, not in
her blood but in her vital organs, and the iron pills added to the problem.And
it wasn’t just one misguided physician who prescribed the supplements, she says.
It was several doctors across five states. Finally, in 1978, she was diagnosed
with hemochromatosis. As is often the case, her diagnosis came by accident. Her
liver was enlarged, and since she didn’t drink, her doctor ordered a biopsy to
look for cancer. What they found instead was a liver loaded with iron. That’s
when her doctor told her she had a "rare and interesting disease,
hemochromatosis." She would soon learn, however, that, fascinating as the
disease is — she’s still researching it more than two decades later — it’s not
rare. "What’s
rare," she says, "is getting diagnosed."
Equally rare is finding a doctor who understands that prescribing iron
supplements to people whose iron levels haven’t been properly tested could be
like giving a bottle of Jack Daniel’s to someone with cirrhosis of the liver.
The supplements become particularly risky if they are taken by people who have
family histories of heart trouble, diabetes and liver problems, or their liver
enzymes are elevated.
One could try explaining this to one’s doctor, but Thomas recommends that
people choose their words carefully. Many doctors don’t take kindly to patients
who want to educate them. It’s what she likes to call the
"Me-Tarzan-You-Jane Syndrome." And those of Irish heritage, who are among the
most likely to have this disorder, have even more to overcome when they try to
convince a doctor that they may have hemochromatosis.
The disease tends to assault the liver. So does alcohol. And whether the
reputation is earned or not, the Irish have long been known for their love of
drinking. When a doctor looks at a report that reveals elevated liver enzymes
— the sign of a distressed liver — iron overload isn’t always the first thought
that comes to mind.
Consider the story, posted on the Internet, of Patrick, an Illinois man who
was sent for an ultrasound when his doctor discovered high iron levels and an
enlarged liver. The results showed a fatty infusion in his liver and the
doctor advised Patrick, who only drank socially, to stop drinking, which he did.
After months of abstaining, he was retested, but his liver still hadn’t returned
to normal. When tests for hepatitis came back negative, his doctor insisted he
was still drinking. Each year, he returned for a checkup, only to find his liver
enzymes still elevated.
When Patrick asked if a genetic problem could be affecting his liver, the doctor
laughed. The doctor continued to insist Patrick was lying about the amount he
drank and urged him to get help for alcoholism.
Meanwhile, Patrick had read a story about a guy called "Iron Man" who was
diagnosed with hemochromatosis after setting off metal detectors at airports
because of the high level of iron stored in his body. Patrick asked his
doctor if he could have this and his doctor reluctantly agreed to send him to a
specialist who took one look at his lab reports and said, "You have
hemochromatosis."
It took eight years for his doctor to refer him to the specialist. Later, the
specialist told Patrick how lucky he was that his doctor recognized his
symptoms. But even after Patrick was diagnosed, his regular doctor only sent him
for a phlebotomy four times. Fortunately, Patrick sought the help of an
experienced hematologist who explained that he would need at least 40
treatments. With those treatments, his liver enzymes finally returned to normal.
One of many tales. It seems that behind every story of diagnosis, there’s a much
longer story of the struggle for answers. And the story of Thomas’ mother,
Josephine Bogie Thomas, is no different.
In 1981, when her mom started feeling tired and began limping, her doctor
told her she probably had osteoporosis, and that her aches and fatigue were
common for a woman in her early 60s. He suggested that she might one day need a
hip replacement and ran some tests, which picked up on her elevated liver
enzymes, a common indicator for hemochromatosis. But her doctor, never
suspecting "a rare disease that only affects men," couldn’t figure out why her
liver enzymes were elevated, and Josephine Thomas spent the next few years
bouncing from one doctor to the next seeking answers.
Then, in 1983, she was diagnosed with advanced ovarian cancer and her doctors
ordered a CAT scan of her liver. According to Thomas, the radiologist noted in
the accompanying report that her liver was dense with iron, but never mentioned
it, perhaps because he didn’t expect her to beat the cancer. But after two
surgeries and eight grueling months of chemotherapy, she did. Later Thomas,
while sifting through her mom’s medical records, discovered the radiologist’s
note, investigated it and got the diagnosis that would explain her consistently
elevated liver enzymes: hereditary hemochromatosis.
By this time, Josephine Thomas’ body was loaded with iron and she had
developed cirrhosis.The 103 pints of blood she gave during regular phlebotomies
returned her iron levels to normal and she lived 14 more years. But eventually
the damaged cells in her liver turned malignant, and last May she died of
advanced primary liver cancer.
But not before educating everyone within earshot about the disease. Even while
in the hospital for tests and treatments, she distributed literature about the
disease to nurses, doctors, medical students, visitors, janitors, anyone who
would listen.
Thomas and her father were devastated when she died, but found comfort in
knowing that there would be no more needles stuck in her abdomen, no more CAT
scans, ultrasounds, biopsies or staring at a fax machine waiting for lab
results. No more jaundice, nausea or looking like she was eight months pregnant,
and no more helplessness, worry or pain. "Her dying wish," Sandra says, "was
that everyone would get tested for hereditary hemochromatosis/iron overload, so
they wouldn’t have to go through what she was going through."
Warnings fall on deaf ears.
Sandra Thomas continues to spread the word, but unfortunately, her warnings,
like her mother’s, sometimes fall on deaf ears.The test kit is not complicated,
time-consuming or particularly expensive. It costs about $125 and consists of
two long swabs that you rub several times on the inside of each cheek.
Afterward, the swabs are mailed to a lab. Within a week, the results are
mailed to your doctor. If it were up to Thomas, genetic testing would be done at
birth. But not all of the organizations struggling to make people aware of
hemochromatosis
support genetic testing. Crawford makes it clear on the Iron Overload Disease
Association’s Web site that her group does not recommend DNA testing. While labs
can test for gene mutations, not all the genes have been discovered yet, so the
test could miss people who have iron overload, she says. And a negative result,
could make it harder for people to convince their doctors that they may be
suffering from the disease.
Crawford, author of The Iron Elephant, which has become a bible for many
hemochromatosis patients, recently heard from an internist who referred a
patient with hyptertension, cirrhosis and blood tests indicative of high iron
storage levels to a San Francisco clinic for bloodletting. When a genetic test
turned up negative, the internist told her, the clinic concluded it was not
primary hemochromatosis and recommended against phlebotomy. Crawford says this
story is typical. At least once a week, she says, she gets a call from someone
whose doctor refuses to treat dangerously high iron levels because of a negative
DNA test result.
The way Thomas sees it, however, this is not so much an argument against genetic
testing as it is an argument for finding a doctor who knows about iron overload,
or is willing to learn. Thomas was national director of public education for
Crawford’s organization for 10 years, but in 1998 started her own organization,
where she takes a
more active role in promoting genetic testing. And while she’ll be the first to
admit that the genetic test should be done along with blood tests, she says
getting a doctor’s attention is often difficult. A negative test may not
necessarily mean that a person doesn’t have iron overload, she says, but a
positive result helps identify those at high risk for developing it. It also
sounds a warning bell for family members who, in turn, get tested. And having
that positive result, she says, makes it easier to persuade a doctor that they
should get a blood test. "If you say ‘Well, look at this result. I have the
mutation,’ 99 percent of the doctors are going to back down on that one,"
she says.
The reality is that many people are too intimidated to confront their
doctors. Without confirmation from the genetic test that they’re at high risk,
many won’t push their doctors to look further to find out conclusively
that they have hemochromatosis. "If you did a survey of practicing physicians,
you would probably find that 95 percent of them still think it’s a rare
disease," says Geoffrey Block, a liver and genetic disease specialist at the
Hemochromatosis Center at University of Pittsburgh Medical Center, where Thomas’
mother was treated.
And that misconception is costing people their lives.The CDC, Block says, has
done a number of studies on how long it takes people with the classic symptoms
to be diagnosed."On average," he says, "it took seven years and 10 physicians.
And this [study] was on people who were aggressive enough about their personal
health care to not take ‘It’s all in your head’ as an answer."
Meanwhile, Block’s clinic is full of the people who didn’t get that answer
soon enough. He is now treating 75 to 80 patients who have cirrhosis and another
seven who have cancer, and all tested positive on the genetic screen.
And while he also has patients who have iron overload for other reasons, he
says, he has no doubt that genetic testing early in life would help a huge
number of people who have an 80 to 90 percent chance of developing iron
overload.
As people continue to be diagnosed, doctors will be trained to recognize the
disease, Block says. Eventually, there will be routine blood screening. But it
could take 10 to 15 years, he says, and in the interim people will die.
Fortunately, Block says, many will learn about this disease through grass-roots
groups like American Hemochromatosis Society and Iron Overload Diseases
Association, the two Palm Beach County organizations with decidedly different
views on genetic testing.
"They may disagree and squabble about what’s important and what’s not," Block
says. "But they’re both part of trying to promote awareness, and to tell people
that if you have a suspicion, you need to follow it up and pursue it."