Daughter's rare form of albinism turns mother into a tireless advocate

Donna Appell awoke at 6:30 a.m. on a recent Sunday to put oatmeal on in the Crock-Pot. The breakfast menu also included cheesy potatoes, scrambled eggs, muffins and doughnuts — not for Appell's family of four but for a hungry band of singers and musicians who arrive at her doorstep this time every year.

They are family, in a way, for what they do to help Appell, of Oyster Bay Cove, and her loved ones: daughter, Ashley; son, Richard; and husband, Richard. That September morning was the first of many Sundays that will be spent preparing for an annual Christmas concert that benefits the HPS Network, a nonprofit that Appell founded in 1992 to help save Ashley's life and others living with a sometimes fatal  form of albinism.

Before practicing some music, JoAnn Criblez, Ashley's voice teacher of nearly 15 years and a longtime family friend, presented Appell with a necklace inscribed with these words: "The journey of a thousand miles begins with a single step."

Appell began taking those steps in earnest when Ashley, who is 27, was not yet 3 years old. She was born with fair skin and a full head of hair so pale it was practically white. At her two-week checkup, she was diagnosed with albinism, a hereditary disorder that is associated not only with lack of pigmentation but also with vision impairment and blindness. They learned later that Ashley is literally one in a million.

HPS diagnosis

After Ashley turned 1 and started walking, Appell noticed bruises dotting her small shins, though she was toddling around on carpeting. The pediatrician said Ashley's fair skin simply made bruises more visible.

"I felt like that was saying that I could be partially pregnant," said Appell, 57, a registered nurse. "You either have a bruise or you don't."

Wanting more and definitive information, Appell started reading. One pamphlet on albinism mentioned Hermansky-Pudlak Syndrome (HPS), a form of albinism that is accompanied by a platelet defect and most often pulmonary fibrosis, a fatal lung disease. She called the author, Carl Witkop, at the University of Minnesota, who sent her a test tube to return with a blood sample.

At 18 months, Ashley was diagnosed with HPS. In some people, the disease may be associated with inflammatory bowel disease, or colitis, and kidney disease. Pulmonary fibrosis is a progressive, fatal lung disease that typically develops for patients with HPS types 1, 2 and 4 during their 30s and 40s. Ashley has HPS 1,  but at the time, no one knew much about HPS, understood then to be albinism with a mild bleeding disorder.

The Appells would find out that the bleeding disorder can be much more severe.

In the early morning hours of Oct. 12, 1989, Appell heard whimpering from Ashley's room. When she looked in, her daughter's crib was full of blood, which was streaming from her diaper. Ashley was suffering from the inflammatory bowel disease associated with HPS — which, along with the bleeding disorder, was causing her to hemorrhage. Ashley's parents rushed her to North Shore University Hospital in Manhasset, where she stayed for the next three months.

"That was the first day of everything getting really bad," said Richard Appell, who would see his daughter go in and out of the hospital over the next several years, as doctors struggled to keep the colitis under control.

"When we got out of that hospitalization, we were like, where are the other families? Where's the research? Where's the cure?" Donna Appell recalled wondering. "And we didn't find anything."

At the time, there were 23 identified cases of HPS in the United States.

"We had nowhere to turn," Appell said. "I talked with my husband and we decided that we didn't want any family to ever be so alone."

In 1992, while Appell was still spending months at a time at the hospital with Ashley — "going in one season and coming out the next" — she started finding families and building the HPS Network, which she runs out of the family's home. She worked with an NYU student to create a website and got listed in various phone directories. Appell spoke from the audience of "The Sally Jessy Raphael Show" and began an HPS registry soon afterward.

The HPS Network was incorporated as a 501(c)3 nonprofit in 1995. Besides Appell, there are three part-time staffers who field phone calls, manage the finances, write grant proposals, send out materials to families and doctors and more. The database now contains nearly 1,200 people affected by HPS, and Appell said it grows, on average, by one family a week.

Annual conferences

In March, the HPS Network will hold its 22nd annual conference at the Long Island Marriott in Uniondale. What began as a small meeting of a handful of families and doctors at the Appells' former home in Malverne has grown into a three-day conference attended by nearly 300 people.

Families from across the country as well as abroad — England, India, Japan, Germany, Canada and especially Puerto Rico, where HPS is much more common than in other parts of the world — meet for HPS 101 sessions, breakout groups, research updates and the annual Saturday-night banquet, which Appell said is a chance for the families and doctors to have fun together.

"It's like seeing old family," said Jackie Falco, a close friend of Appell's who has been volunteering at the conference for 18 years and whose daughter Christie, 26, has albinism, but not HPS. "You can see that it feels good for them to share with new families," added Falco, 60, who lives in Manhattan and is in charge of making sure everyone is fed throughout the weekend. "You can feel the love."

In October, the network usually runs a booth at the annual Oyster Festival in Oyster Bay to raise money for research and HPS Network-related activities. The HPS Network Benefit Christmas Concert will be Dec. 5 at 7:30 p.m. and Dec. 7 at 2 p.m. at Oyster Bay High School. In the past 14 years, Criblez and her bandmates have raised more than $150,000 for the nonprofit.

More recently, the HPS Network has been traveling to Puerto Rico once a year. The island has a founder effect, meaning that HPS occurs more frequently among those of Puerto Rican descent. One in 1,600 descendants from major portions of Puerto Rico is affected by the disease. Several days of presentations for physicians to earn continuing medical education credits, lectures and visits to hospitals culminate in a health fair, where families undergo genetic counseling and pulmonary function and blood testing. Families also attend educational sessions. The outreach extends to the Bronx, which has a large Puerto Rican population.

In 2012, Donna and Ashley — who is legally blind — were featured in the PBS documentary "Rare," which followed the pair for three years, chronicling the challenges of living with a rare disease and the efforts of the HPS Network to find treatments and a cure.

In the years since starting the network, Appell's advocacy and outreach resulted in the National Institutes of Health, in Bethesda, Maryland, beginning a clinical drug trial.

"Advocacy groups for rare diseases start out with one strike against them," Dr. William Gahl, clinical director at the National Human Genome Research Institute, an arm of the NIH, said in the film. "Other people don't understand why one should study a rare disorder instead of a common disorder."

In 1993, he invited Ashley to his lab at the NIH to be the index case for HPS, or the first person with the disease to be documented at the NIH, after hearing from Appell. Gahl and a team of researchers have been studying HPS and searching for a cure.

Pirfenidone, a potential pulmonary fibrosis treatment from Gahl's lab, was in its second clinical trial when the documentary was being filmed, but the protocol was cut short. The drug has since been approved in Europe, Canada and Japan, and is expected to get the Federal Drug Administration's stamp of approval early next year.

Recently, Dr. Lisa Young at Vanderbilt University in Nashville, Tennessee, received a grant from the NIH, and, along with the network, will open centers specifically for HPS that will organize for research and help families struggling with the disease. The first two will open at Vanderbilt and Columbia universities, and two more are expected to open by the end of 2015.

Forging ahead

Ashley enjoys singing — which she likes to think strengthens her lungs — at church and in private voice lessons. She volunteers at a preschool three days a week as an assistant teacher for 4-year-olds, teaching them music, and takes a couple of classes each semester at LIU Post in Brookville, where she is studying early childhood education, likening her course load to "taking the scenic route."

Appell's load involves long days teaching doctors and continuing to raise awareness about HPS, fundraising for research and helping members who are raising money for lung transplants, serving on the boards of various organizations, lobbying in Albany for an enhanced health care proxy bill and advocating in Washington, D.C., for funding for research at the NIH.

"Dealing with chronic illness is like running a marathon that never ends," Appell said in the "Rare" documentary.

As always, the journey has her taking calls from patients, parents and doctors. The effort has not gone unnoticed.

"Over the years, Donna really took the bull by the horns," Gahl said. "Experts in the various aspects of the disease were created, really, by Donna. HPS is much more widely known and physicians are better able to treat it, thanks to her."

VOLUNTEER WITH HPS NETWORK

The international reach of the HPS Network starts at 1 South Rd. in Oyster Bay. The address is command central for many of the nonprofit's yearly events, including the group's annual conference at the Long Island Marriott in Uniondale in March, its free Christmas concert in December and the Oyster Festival in Oyster Bay in October, where the HPS Network has a booth offering chicken and ribs and chocolate-dipped strawberries.

Monetary donations to help fuel research and bolster the nonprofit's activities are always welcome. Donna Appell, founder of the HPS Network, said the group needs volunteers to pick up conference attendees from area airports, provide child care during the event and more. Volunteers can also help throughout the year with mailings and other office tasks.

To learn more about how to donate, volunteer or attend an event, contact the HPS Network at 800-789-9477 or visit hpsnetwork.org.

OTHER VOLUNTEER OPPORTUNITIES

The Lustgarten Foundation in Bethpage works to advance research for prevention and treatment of and a cure for pancreatic cancer as well as increasing awareness and providing support to patients and their families. Its annual fundraiser, the multistate Pancreatic Cancer Research Walk, comes to Long Island on Oct. 12 and will be held at Jones Beach, Field 5, at 9:30 a.m. Contact: 516-803-2304; lustgarten.org.

The Cystic Fibrosis Foundation is dedicated to the search for a cure and improved quality of life for those affected. The foundation has an office in Huntington, which plans fundraising events in Nassau and Suffolk counties. Contact: 516-827-1290; cff.org.

For more volunteer information and opportunities, contact the Long Island Volunteer Center at 516-564-5482; longislandvolunteercenter.org.