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It's Valentine's Day! Sadly I'll be spending it alone this year. After several years of being completely spoiled by large flower arrangements being sent to my office by my boyfriend - well Valentine's Day just isn't the same without him.

We seem to have finally drifted apart and gone our separate ways, although I know we both care for one another deeply. Sometimes love isn't enough. In our case, geography got in the way. Peter, my boyfriend, has two children and a great job in Hong Kong. Before HPS, I would have gladly, happily, practically skipping, moved half a world away. But just as we seemed to be reaching that stage in our relationship along came HPS and suddenly I felt I had to choose between a future with Peter or having a future at all. I knew that my lungs weren't getting any better, and I knew my best shot to fight this disease was in the United States. So, I chose not to pick up and move half way around the world. Many, many people have said to me that if Peter loved me, he'd have moved here. I don't think that's a fair statement.

Peter is also blind and a journalist. It truly isn't easy to find a job under such circumstances. Had it just been us we probably could have made it work even if we had to eat tuna and ramen noodles while we waited - but with two children in the picture Peter has other responsibilities to consider. It has nothing to do with love. It has to do with grown-up responsibility.

I think the emotional distance we've put between us is a good thing. Peter is a wonderful guy and I know that someday he'll meet someone else - and without some distance that will just kill me. It probably will anyway because I miss him terribly.

In honor of Valentine's Day I thought I'd share Peter's best Valentine's Day gift - better than all those flowers! Keep in mind this was written several years ago. It appeared in the South China Morning Post on Valentine's Day.



Peter Kammerer

My girlfriend Heather undergoes life-changing experiences every 10 years.

At 9, 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. 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 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 she was calling up in increasingly wide-eyed succession were outlining her exact symptoms and telling her that HPS sufferers generally developed pulmonary fibrosis - for which there was 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 HPS 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 about which relatively little is known. Within months of becoming convinced she had HPS, she was being diagnosed in Washington and had embarked on a crusade to further knowledge and find a cure.

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.

At a conference in New York last week, she took the interviewing role in a video being made to increase awareness and raise funds for research. Somehow, she juggles her meetings, research and fund-raising activities with her full-time job as a senior editor with 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 of its time and energies into studying the disease. Her efforts have paid off and a second drug trial – which Heather hopes she will be accepted into – should start in a matter of months.

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 has been given hope. I live half a world away from her 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.

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