A Valentine's Day wish

PUBLISHED : Saturday, 14 February, 2004, 12:00am
UPDATED : Saturday, 14 February, 2004, 12:00am

My girlfriend, Heather, undergoes life-changing experiences every 10 years. At nine, she suffered concussion in an ice-skating accident. At 19, she almost died during surgery. A little under two years ago, at 29, she learned she had a rare disease from which few sufferers live much past 40. Heather is determined that history will not repeat itself. She intends to be alive and kicking well beyond 39.

Devoting your life to living is not easy when your genes dictate otherwise. Heather's are programmed to ensure she has albinism, a blood-clotting disorder, intestinal problems, a susceptibility to infection and the high probability that she will develop life-threatening lung scarring.

When I met her at a conference in Dallas six years ago, she only knew of the first three on the list. She found out about the others when she got a virus a few years back that would not go away.

Her Kansas City doctor was baffled, so Heather started doing her own research on the internet. In her reading, she stumbled across something called Hermansky-Pudlak Syndrome. The more she read about HPS, as it is commonly called, the more - to use her language - she freaked. She had heard of the genetic disorder before while trying to find out why her blood platelets did not stick together like those of other people. Doctors had misdiagnosed her as having the rarely fatal disorder, Crohn's Disease.

But what Heather was reading that day in May 2002 went far beyond her blood taking twice as long to clot as it should. The scientific papers were outlining her exact symptoms and telling her that HPS sufferers generally developed pulmonary fibrosis - for which there is no known cure - and had an extremely high probability of dying between their late 30s and early 50s.

HPS is named for the two Czech doctors who discovered it in 1959. It is known as an orphan disease, which means it affects less than 200,000 people around the world. But it is at the extreme end of the classification, with only 500 known sufferers in the United States - where it is best understood and most frequently diagnosed - and a handful of known cases elsewhere.

Researchers do not believe it is race or gender specific and estimate there is one sufferer in every one million people. They base that number on the belief that one in 70 people carry the gene, although few are affected by it. Both parents have to have the gene to pass it on to a child, who then has a one in four chance of developing the symptoms.

Given those figures, there are most likely only a few thousand people in the world with HPS and most do not know they have it. Doctors at the National Institute of Health in Washington, the foremost research institution for HPS, are not aware of any cases in China, although statistically there must be more than 1,000. But a Chinese girl in Singapore has been diagnosed and cases have been reported in Japan, Pakistan, Australia, Turkey, Germany, Spain and Ireland, among others.

But by far, most HPS sufferers are in the American island territory of Puerto Rico, where Heather's forebears went from Spain in the 1850s. The limited gene pool there means that one in 2,000 Puerto Ricans has HPS.

Heather knows these facts because she is constantly trying to learn more about the disease. Within months of becoming convinced she had HPS, she was being diagnosed in Washington and had embarked on a crusade. In a way, she has become an authority on the subject. She has become an executive member of the HPS interest group and speaks at meetings attended by doctors and scientists. Somehow, she juggles this with her full-time job as a senior editor at a trade magazine.

Heather's inspiration is Donna Appell, a nurse whose daughter was diagnosed with HPS 14 years ago. Ms Appell doggedly tries to convince the medical world to put more time and energy into studying the disease. Her efforts have paid off and a second drug trial - which Heather hopes she will be accepted into - should start soon.

Pharmaceutical companies do not usually put millions of dollars into developing drugs that will benefit only a few hundred people and will not generate profits. But HPS sufferers are fortunate in that the drug they will be testing may also benefit people with pulmonary fibrosis, one of the western world's biggest killers.

Heather's longevity is not guaranteed by the drug trial, but she now has hope. I live half a world away and see her only as time and money permit, but she and her challenges are constantly on my mind.

Happy Valentine's Day, Heather. I know there will be many more to come. I love you.

Peter Kammerer is the Post's foreign editor