When Jessica and Alex Geslani were considering adopting a little girl from China last year, the Smithtown couple turned to Donna Appell for her expertise. Not with the adoption process but with a rare medical condition Appell could explain without ever setting eyes on the young child.
The Geslanis wanted to know whether Alora could have a rare form of albinism called Hermansky-Pudlak Syndrome, and if she did, what would she and her new parents would face with the diagnosis.
"Instead of finding courage and a brain, we're off to find some lungs and platelets, that's what we're off on the yellow brick road for," Appell said. "We're going to rewrite the words to 'Somewhere Over the Rainbow' to find a cure, because that's over our rainbow."
The Geslanis decided to go ahead with the adoption despite the chance that Alora, now 2, could have HPS, which was a possibility based on her albinism and the mention of a clotting disorder on the blog kept by the children's hospice she lived in for about the first year of her life. They brought her home in February and spent the first few months adjusting and bonding before moving ahead with testing for HPS.
HPS is albinism -- a genetic condition associated with a lack of pigmentation as well as vision impairment and blindness -- plus a platelet defect that prevents clotting and can cause serious bleeding problems. Depending on the type, HPS can also come with inflammatory bowel disease, kidney disease and most often pulmonary fibrosis, a fatal scarring of the lungs.
Appell started the HPS Network, an Oyster Bay-based nonprofit that offers a support system, promotes research, raises money and seeks a cure for HPS, after her daughter, Ashley, was hospitalized as a toddler. Ashley, now 28, was diagnosed with HPS when she was 18 months old. At the time, doctors knew almost nothing about the disease, and only a handful of cases had been identified in the United States.
There is still no cure, but the network is thriving, with nearly 1,200 families in its registry, an annual conference at the Long Island Marriott in Uniondale, long-term studies and other initiatives as part of its concerted effort to be part of the solution.
The network was featured in the September 2014 installment of the Volunteer Nation series, and Newsday checked in recently to find out what Appell, her daughter and their partners in HPS advocacy and research have been up to.
Network offers support
Appell, her staff and volunteers are as busy as ever, juggling a steady stream of calls, texts and emails from HPS families with myriad other tasks: working with doctors and researchers; doing outreach and holding annual fundraising events like the Oyster Festival in Oyster Bay in October and the group's free Christmas concert in December; and planning the annual three-day conference, which this past March was themed "HPS Around the World."
Soon afterward, Appell and her daughter traveled to Puerto Rico to host a patient education day, along with the American Thoracic Society, at San Juan City Hospital.
In July, they visited Nashville, Tennessee, for the opening of the first of four planned HPS centers in the United States. Vanderbilt University researcher Dr. Lisa Young received a grant in September 2014 from the National Institutes of Health to conduct a five-year longitudinal study of pulmonary fibrosis in those with HPS. The study is being conducted through the Rare Lung Diseases Consortium, which is part of the Rare Diseases Clinical Research Network.
HPS patients between the ages of 12 and 90 who qualify to participate will give blood and urine samples and complete questionnaires, and some will also do pulmonary function tests and get chest CT scans. The ultimate goal of the study is to organize and prepare for future clinical trials, what Appell calls a launching pad.
The study, a partnership with the HPS Network, "reminds us that what we do is about patients," said Young, who met Appell more than 10 years ago. "Patients know that they have to be part of the solution. There aren't lots of other people who can do it for them."
A second center has already opened in Manhattan that is headed by Dr. David Lederer of the Columbia University Medical Center. Others are planned for Brigham and Women's Hospital in Boston and at Loyola University Medical Center in Chicago.
"I have learned this past year more than any other year that the biggest thing that organizations, nonprofit organizations, can do to push science forward is to be a very strong cohort of people," Appell said. "It's [HPS] not going to cure itself. We have to be organized and ready."
Conference on Long Island
In March, the HPS Network will hold its 23rd annual conference for those with HPS, their families, and the doctors and researchers working to treat and ultimately cure the rare disease. The event is like an extended-family reunion where members who sometimes feel isolated by the rare disease can gather in the same room and share their experiences.
"When you're struggling with a disease that has such implications and is fatal in some cases, I think it makes these meetings so vital," Appell said. "Hope is medicinal."
But at the same time, it can be difficult for new families to see others with oxygen tanks, their own future on stark display, and for veteran members to see beloved friends getting sicker and sicker each year.
On July 2, the Geslanis received a positive diagnosis of HPS for Alora, and about a week later the whole family -- including son Miles, 5, and Jessica's mother, Helen Schmidt -- was at the Appells' home in Oyster Bay for pizza and a long talk about what comes next: learning how to handle cuts, nosebleeds and bruises; passing on pertinent information to her day care provider; finding doctors; getting a medical identification bracelet; getting enrolled in a research study; and considering options for additional tests to determine which type of HPS Alora has.
Since the first email more than a year ago, Appell "has been our rock," Jessica Geslani said. "We couldn't do this without her."
To find out how to help the HPS Network with its mission or donate to its cause, call 516-922-4022 or 800-789-9477; email email@example.com; or visit hpsnetwork.org.
1 South Rd.
Oyster Bay, NY 11771