Written by Dagmar Fors Karppi Friday, 08 January 2010 00:00The HPS Network held their 8th Annual Benefit Concert at the Oyster Bay High School Performing Arts Center twice this season. The first was held Friday evening on Dec. 4, followed by a Sunday concert at 3 p.m. After the Sunday concert JoAnn Criblez and her brother John DiGennaro of the group J, performed at the Derby-Hall Bandstand for the Holidays in Oyster Bay program.
Seated in the rear of the packed auditorium on Friday was OB-EN School District Social Worker Matthew Brown who said, “What a great event this is! What a great night!”
One of the highlights of the show at the high school was a song performed by Ashley Appell with JoAnn Criblez acting as her back-up singer. The audience was packed with HPS Network supporters. The performance on Friday was followed with a dessert reception in the cafeteria.
The Hermansky-Pudlak Syndrome (HPS) Network was formed in 1992 as Donna and Richard Appell worked to help their daughter Ashley fight the rare genetic disease characterized by albinism, vision impairment and a bleeding disorder. Ms. Appell, a nurse, recognized that her daughter’s problems were caused by the disorder.
Today, the HPS Network is an international organization. HPS has been identified in virtually all populations. It is very prevalent in Puerto Rico with 1 in 21 affected in the northwest region of the island. Researching HPS will benefit millions of individuals who have more common diseases such as Crohn’s disease, pulmonary fibrosis, melanomas, bleeding and vision difficulties.
Ashley Anne Appell is a delightful young woman, direct, mature beyond her years, and very engaging. Contractor Greg Van Dyke fell under her spell on meeting her and hearing her beautiful singing voice. Ashley sang at Carnegie Hall this spring with members of the C.W. Post Choir. Ashley said it was wonderful to sing with her choir at Carnegie Hall. She said of Mr. Van Dyke, “He’s wonderful. We call him Uncle Greg. He’s working on my house doing renovations. He’s a great help to the HPS Network.”
Mr. Van Dyke has worked with the HPS Network to raise funds for HPS research. Gregory Van Dyke created the Van Dyke-Adopt-a-Family Foundation to raise money so that people who don’t have the funds can come to the HPS conference. He said this year he sent out twice the number of appeals and received half the response of last year, because of the economy.
Mr. Van Dyke catered the 16th annual HPS Network New York Conference held last March at the Marriott. This year, the 17th annual HPS Network New York Conference will be held on March 19-21, at the Uniondale Marriott Hotel.
This year conference attendees will be encouraged to believe in their dreams. Sessions will be chock full of useful information for all ages designed to help those living with HPS lead happy and productive lives. The latest research on HPS will also be presented by leading experts in the field.
Ms. Appell said, “We were at a conference in Puerto Rico in August, in the northwest of the island, where 1 in 21 carry the syndrome. We do a conference here on Long Island and one in New York as well as regional conferences around the country. We are very busy and are actively funding research so we need every penny we can find. We can’t rest until we cure the disease.
“I’m afraid and worried that it will not be in my daughter’s lifetime but I certainly can’t rest until it’s cured. Hopefully with gene therapy and personalized medicine it will and I pray each day that it is,” she said.
Mr. Van Dyke said the Oyster Festival was a disaster for the HPS Network; they only made about $500. The weather wiped out what is usually a good fundraiser for the group.
Mrs. Appell said the Oyster Festival is a big part of the HPS Network fundraising. She said, “We were there at the 2009 Oyster Festival but the weather was so bad we didn’t open the second day like many other groups. The front of our booth fell over. The first day was successful but you have to spend money to buy a booth. The HPS Network definitely depends on the Oyster Festival. It is actually an item in our operating budget.”
Ms. Appell said, “We do a lot of outreach. We do a lot of activities and we have a growing membership.”
Donna Appell said of her daughter Ashley, “I actually think that she is a Martian. Her demeanor, her personality and voice don’t come from me or my husband. She is never in a bad mood; never angry. It is just an honor to be her mother.” Mrs. Appell is very open about her daughter’s medical history. There is a reason. She explained that with cancer, everyone knows what you are talking about, not so with HPS. She is in a battle for research for HPS, therefore she is eager to educate people about the syndrome.
Mrs. Appell too had a great deal to learn about HPS. She said when Ashley was a baby, she wasn’t getting the help she felt she needed from her doctor. “I began reading about Albinism and bleeding problems and talked to the author of an HPS article and he sent a test tube and we drew blood and he diagnosed her. Dr. White is in Minnesota, two time zones away.
“She was about a year old and bruising when learning how to walk. I couldn’t figure out why she was bruising. As an Albino she was declared legally blind at two weeks old. Usually Albinism only involves vision and sight, but as she walked around I could see bruising and brought her to her pediatrician. They initially were patronizing and drew blood for testing – which was coming out normal.
“But I couldn’t understand why. Then I found that this kind of Albinism causes bleeding problems.”
The doctor in Minnesota and she became allies. “He called me every day for several days to teach me. Then there were only 23 cases in the United States mainland diagnosed with HPS. Now more than a family a week is diagnosed since 1992 when the HPS Network was begun.
“It’s under-diagnosed,” she said.
Ms. Appell said, “When someone is diagnosed: while it is bad that they have it, it is good that they found us. The diagnosis is free. Just locate us and we talk them through the diagnosis and how to look at a blood platelet under an electron microscope.”
She explained, “Normal platelets look like chocolate chip cookies with compartments; HPS platelets look like butter cookies with no spots when seen under a powerful microscope. Dr. White does all our diagnosing, free. He is the doctor who invented the test.
“HPS people all have Albinism or vision impairment, a side to side movement in their eyes – an involuntary movement; but not everyone with Albinism has HPS.
“A lot of people come to us after something bad has happened such as had surgery and hemorrhaged too much; maybe they had a wisdom tooth taken out and they bleed too much; if someone is bleeding too much and you don’t catch it - bad things can happen,” she said.
The HPS parent needs to be informed, she said. “For instance, pediatricians can suggest taking Motrin, and HPS children can’t have Motrin, it makes them bleed even more,” she added.
Since HPS is a unique disease with people getting other health problems such as colitis which is a part of Crohn’s disease; and pulmonary fibrosis, she said, “If you study a rare disease like this you can unravel other diseases.
“For instance, in 100 people with HPS, anyone with the HPS-1 gene will develop pulmonary fibrosis. You can study it as it develops and treat these people and figure out treatments for the rest of the population. There are thousands with pulmonary fibrosis and Crohn’s disease and by studying this rare disease and applying what is learned to someone else there are great benefits. So these single disease groups are so necessary for research,” she explained.
Ashley is on a regular regimen to keep her health optimal and is part of an HPS research study. For the last eight years she has gone to North Shore Hospital every six weeks for two days for an infusion for colitis. Because she has a reaction to the medication she takes for colitis, Remicade, she has to be rehydrated with an IV overnight before she gets the colitis treatment.
Every three months she spends a week in the hospital in Washington D.C. She has since she was 6, and is 23 now. She is a source of education for the doctors for whom she is the index case - the first one they have studied for HPS research.
Ms. Appell said, “Ashley teaches me about living for the moment; not being affected by the crazy schedules; the fast pace of life; she keeps me very objective; a walking package of perspective; because she seems to put everything in perspective. When she turned 16, we, her father and I, took her to the Milleridge Inn to celebrate. She said, “It’s so amazing that I made it this long.
“In Washington she is involved in a research protocol and goes for tests for lung disease and gets pulmonary function tests and lots of blood work and follow up. Before this, there was no research for HPS. When she hemorrhaged at 2 years old and needed six pints of blood and 36 units of platelets, we were there for a couple of months. That’s when I decided I needed a network to find help. Then there was no research. I called the National Institute of Health and said please look at our plight. I’ve collected stories of the need for help. I’m not a millionaire and we went – she and I, for two years, every other month for a week of all kinds of tests – that is how she became their index case.
“I used to role play with her to learn how to work with the doctors. She charmed them and they were willing to do the work and could see that they had a positive effect on the disease.
“I truly believe she is an angel and while it is a rare corner of the world, she still changed it.”
Ms. Appell said the Christmas Concert raised over $15,000 for HPS research. Some of the money was raised before the concert. Some people send money to advertise in the program and there are families that give large donations.
Tied into the concert were offers from five local restaurants, Canterbury Ales, Taby’s, Il Piatto, Coach Grill and Fiddleheads, to donate a percentage of their checks from concertgoers who brought in their program and had dinner after the show. Ms. Appell said she received a check for $300 from the Coach Grill and still has to contact the other restaurants.
She said they don’t sell raffle tickets at the concert. “It’s not all about the money. There is a great deal to be said to have people come out and support us. We also need the love to cure the disease. It’s a great Christmas Concert and John and JoAnn are amazing.” (CDs of the concert and previous concerts are available for sale at $15.)
JoAnn Criblez came up to Donna and suggested the concert at a Hawaiian fund raiser at the home of Karen and Rich Farley. “Rich and Karen have always been our supporters. It was there that JoAnn talked to me about the fundraiser for HPS,” she said.
At the concert, John DiGennaro said, ‘The HPS Network is a second family to us. It is an incredible organization and we are lucky to know such wonderful people. It is a family network with no showing off, no state funding and for all ages. Have yourself a merry little Christmas now!”
Ms. Appell said, “Certainly when you work with HPS Network people know where money is going. We pay the overhead. The money goes to the programs and the people.
“We are a visible organization to the neighborhood and they know where the money is going. I don’t take a salary. We’ll do right by everyone,” said Ms. Appell.
The HPS Network has grown since 1992. Attending the concert was Carmen Camacho from Massachusetts, a HPS Network board member and the North East Coordinator. She said, “HPS is a serious disease and right now there are three people waiting in just my area for lung transplants. Pulmonary fibrosis is a complication of HPS that occurs to individuals in their 30s and 40s.”
Ms. Appell agreed and said there are actually five people right now in the country who need the lung transplants.
Working with the HPS Network is Renee McEvoy of Oyster Bay, whose daughter Bianca has Albinism. She is someone who Donna Appell recruited to work with her. Ms. Appell explained that she is on the board of NOAH, the National Organization for Albinism and Hypopigmentation. “They called me when a child with Albinism was born in my neighborhood. So I called Renee when the babies were newborn. [Ms. McEvoy has triplets, two boys and a girl, Bianca.] I said, ‘We will drop by and say hello,’ so Ashley and Bianca could meet. I waited a couple of years and then hired her. We just have God looking over us when an angel gets into our lives, like Renee; and the opportunity to have Renee come to work with us. We just seem to get those breaks. We are lucky parents.”
Ms. Appell said, “I have the best children in the universe. Not to make people jealous, but my son Richard is a junior at St. Joseph’s in Philadelphia. He is a rower. He used to row for the Sagamore Rowing Association and now for St. Joe’s. For my son growing up with Ashley and all of her illnesses – he became an outstanding person. He understood the need for being flexible and doesn’t take things for granted. And Ashley taught him a lot as well. I separated Ashley and him. He went to Chaminade and didn’t go to the same high school. I wanted him to have his own space and place.”
Suffice it to say that Ashley was well known and well loved at Oyster Bay High School.
Renee McEvoy said, although many individuals with HPS have very light hair and features, Bianca does not have HPS. “Donna became my parent-mentor and now Bianca is in the same school district as Ashley was. Puerto Ricans have a high incidence of HPS, so we are lucky,” she said.
“It is interesting how the universe brings people together,” said Ms. McEvoy. “Working for a non-profit is so much more interesting than other jobs. I hope Roger Bahnik is not listening, I worked for him before,” she said with a smile.
Ms. McEvoy said at the last HPS Network Conference at the Marriott, they separated families and friends from HPS parents. After the session, the friends and family members were all teary but the parents were having a great time. “The HPS parents were having a party and the others were ‘getting me down,” said Renee.
She explained that living with the daily trials of the illness the time spent at the conference was a respite and support for the parents; while the friends and family were learning about the details of the disease.
Donna Appell was honored by Molloy College as the 2005 alumni of the year and received The Veritas Medal. This year she was honored by Puerto Rico for the work she does there. In March, the Puerto Rican Congress passed resolution 239, honoring her work in aiding families with HPS. In August, in Mayagüez, the Puerto Rican Senate passed a congratulatory motion for her contribution and support for not only HPS but other lung diseases.
Ms. Appell also won the 2009 Presidential Commendation from the American Thoracic Society for her work with HPS.
“The gene is in every nationality. It is pretty similar to other genetic disorders when people marry in a small geographic group - it is called the Founders Effect. Cystic fibrosis is common in the northern European gene pool. In the case of Puerto Rico and HSP, it’s a case of living on an island and marrying distant cousins: over thousands of years you get a whole same gene look. The HPS disease is all over, even in the Alps of Switzerland. We have a map of HPS all around the world. It is in India, Israel, England; Africans tend to have a pigment type of Albinism but HPS Is rare. It exists in the Japanese people. Children in China who are born with Albinism and are blonde and fair are put into orphanages but now are being adopted and brought here and they are testing positive for HPS.
“It’s amazing. Because of the Internet people are just reaching out to us. There are a couple of families in Australia. We talk to people from all over the place. It’s a journey I never expected to be on. But it also makes for knowing people that you just wouldn’t walk into in Stop and Shop. These people are struggling. They are courageous people struggling with fortitude.
“People all have their own individual problems but unless they are brought together to fight an adverse problem they don’t know how wonderful it is to be part of that group. It lets you be surrounded by heroes.
“I don’t mean that not everybody is a hero - but just that you don’t know their story. Every person and family has a story.
“When you are knee deep in the story you get to know the people and they inspire me every minute of the day.
“There is a young boy who did a YouTube video of our conference. It’s amazing to see how this kid from the Bronx changed after meeting other people with the syndrome.
“It’s a big nut to crack,” she said, but she is willing and able to dedicate herself to the search for a cure.