A DIAGNOSIS
“HPS is a type of albinism that, in addition to decreased pigmentation and low vision, causes a bleeding disorder. Some of those affected also develop a Crohn’s-like gastrointestinal complication. Depending on the gene involved, it also causes ultimately fatal pulmonary fibrosis or scarring of the lungs. ”
Written by: Heather Kirkwood, a HPS patient
When I was diagnosed with Hermansky-Pudlak Syndrome (HPS) I was told this disease would limit my lifespan. Someday, in addition to the medical issues I was already experiencing, I’d develop a fatal lung disease. It would probably happen sometime in my 30s to 50s. I was 29. There was no cure. There were no treatments. As best I could tell, I could count the number of researchers working on this disease on my fingers. When I called the number for the patient organization I found online, I didn’t reach a gleaming office with a staff of dozens working to improve the odds. Instead, I found a mom on Long Island who talked to me as she chopped carrots for her family’s dinner.
I was in trouble.
There was one glimmer of hope. The National Institutes of Health planned to start a drug trial in three months. It didn’t open for three years.
I qualified and traveled every four months to participate for several years. I didn’t know if I was getting a placebo, or if the drug would even help, but just participating was a therapy all its own. Hope came in those little capsules for me and for everyone else with HPS. At our patient conference, I took my medication at dinner and the entire table wanted to see the bottle and what the capsules looked like. They wanted to “see” them and know this hope in a bottle was real. There was a spotlight near where I was sitting and as I put a few capsules in my hand to show them off, the light shone down as if a spotlight were coming from heaven.
It turned out I was in the placebo group. It was still worth it. Eventually, the drug was FDA-approved to treat a similar condition and I was able to gain access off-label. It bought me enough time to be listed for a lung transplant. Six years ago this month, I received that transplant. Lungs are not like car parts, however. You can’t just exchange a bad one for a good one. Instead, it’s trading one lung disease for another.
Now I look at the next generation of people with HPS and wonder what their hope in a bottle will look like? Will it be a medication? Will it be gene therapy? Will it be something not even thought of yet?
How will we find it? And if we do, how will we get access to it? Will there be policy in place to accelerate the process, or will hope be bogged down amid the intersections of government and the private sector?
When it comes, we are in a much better place to do our part. We with HPS are more than a community. We are like an extended family.
And the mom on Long Island cutting her carrots? She is now a dear friend, colleague, and mentor. Under her leadership, we have grown from her laundry room to an organization with research assets of our own such as biobanked tissue, a natural history study going back decades, and I don’t have enough fingers or toes to count the researchers working every day to help us.
We must keep moving forward on all fronts – the scientific, the clinical, and the policy solutions that will pave the path to hope. To our friends at the Harvard Rare Disease Hackathon, thank you for helping us find ways to move forward.
