American Thoracic Society gives a little press to HPS

Kevin O'Brien (nurse pratitioner from the NIH), Carman Camacho (board member HPS Network) and Donna Appell (President HPS Network sit at a table with other HPS'ers in Puerto Rico.

Below is a story that ran in the American Thoracic Society's Public Advisory Roundtable newsletter. The story, written by Donna Appell, is about our September HPS conference in Puerto Rico. There will be a shortened version in the HPS Newsletter (coming soon, I swear!). This is exciting because it really gives HPS some exposure in the lung research community. Way to go Donna!

HPS HOLDS MOST SUCCESSFUL EVENT EVER IN PUERTO RICO

In late September 2007, the Hermansky-Pudlak Syndrome (HPS) Network hosted its most successful conference ever in Puerto Rico, where due to a "founder effect," HPS is very prevalent.According to current statistics, one in 1,800 Puerto Ricans have been diagnosed with HPS, and one in 21 are carriers of the disease.

In 2006, the HPS Network held its conference in Arecibo, a town located in the northwestern part of the island. This year, to provide support to individuals who could not travel to that area, the meeting was held in Caguas, which is south of San Juan.The HPS Network has tremendously capable and energetic coordinators in Puerto Rico and the team did a great job.

About a month prior to the event, we started a "door to door" campaign and handed out flyers in markets and churches.William A. Gahl, M.D., Ph.D., Clinical Director of the National Human Genome Research Institute (NHGRI), arranged for members of his team to arrive in Puerto Rico four days early to speak to members of the press and to lecture residents and nurses at local hospitals and medical schools.

Thanks to these efforts, coverage of the event appeared on the front pages of a number of newspapers, including Primera HORA and La Perla del Sur! Puerto Rican radio stations also broadcast an interview with Thomas Markello, M.D., Ph.D., of the NHGRI's Medical Genetics Branch.We spent a day at the Centro Medico School of Medicine in San Juan and spoke with department chairs and the associate dean about enhancing curriculum and about the misdiagnosis of pulmonary fibrosis caused by HPS.

On a trip to Escuela Loiza Cordero, a school for the blind and visually impaired, we were surprised to be met by a reporter upon arrival. Thinking we would be speaking to parents and teachers about students with HPS, we were amazed to spend the first hour of the visit with four teachers with HPS. They were interested in the National Institutes of Health's Phase III drug trial for Pirfenidone. One gentleman had brought his PFTs with him and even though there was a language barrier, he showed us the HPS Network's 1(800) number on his cell phone's speed dial!

From there, we hit the hills and traveled to the home of a 28-year-old woman with HPS, who had called the Network in New York two months before to discuss her albinism and shortness of breath. She did not understand these were symptoms of HPS, let alone pulmonary fibrosis. We referred her to the NIH, but it was determined that she was too ill to qualify for the protocol.Inquiries were made on her behalf to see if she could get a lung transplant in the United States, but the biggest impediment was insurance or lack there of: Puerto Rican Medicaid coverage is not accepted in the U.S.

It broke our hearts, and spending time with her two young children made you wish you could just rip your lung out and hand it to her. It was difficult leaving her, but our formal programs began that evening.

In the Centro de Bellas Artes de Caguas, Dr. Gahl gave a presentation on the diagnosis and treatment of HPS patients with pulmonary fibrosis. Bernadette Gochuico, M.D., of the NHGRI, spoke about the cellular changes in HPS patients' lungs, while Melissa Merideth, M.D., of the NHGRI's Gynecology Branch, discussed the standard of care for women who suffer from the disease. Attendance at these presentations increased tremendously from last year: more than 40 physicians were present and a total of nine continuing medical education credits were awarded over the course of two days.

The following day, we opened the doors to include the families. We hired three yellow school buses to transport attendees, since many patients with HPS are also legally blind and cannot drive. More than 400 people came and it seemed that everyone was energized just meeting one another. Two Puerto Rican physicians who specialize in ophthalmology and hematology gave a very informative presentation. Doctors arranged for free pulmonary function testing, for which there was a line all day. Private consultations were offered by Kevin O'Brien, C.N.P., a clinical nurse practitioner at the NHGRI, to answer attendees' health questions, and Dr. Merideth conducted interviews and a survey regarding HPS patients' OB/GYN problems.In the middle of the morning, a television crew arrived to tape a live visit from the town's mayor, who gave a welcome speech.

It was an amazing moment when that afternoon, the woman that we visited the day before arrived in her wheelchair with her husband and oxygen in tow. We advertised our t-shirt sales to raise money for her lung transplant and the entire room gave her a standing ovation.The event was a great success, though it was terribly sad to see so many people with HPS in need of education, treatment and a better quality of life. The stars were aligned for us, however, because about two weeks later, our young lady in need of the lung transplant was granted $350,000 in catastrophic funding by the Puerto Rican government, which has enabled her to come to the U.S. and get on a transplant list.