Why a Patient Foundation?
Meghan's Story
A Lucky Break
Birth of the Foundation
Testing the Waters
First Scientific Symposium
First Family Day for Patients
PCD Foundation Today
PCD Foundation - The Future
My name is Michele Manion and I am a PCD parent (my 21-year-old daughter, Meghan, was diagnosed at age 7). Based on the frustration my family experienced in getting Meghan’s diagnosis and finding appropriate treatment, I determined years ago that I wanted to be an active participant in the patient group(s) devoted to PCD. I was anxious to talk to other parents about their experiences, feeling at times that I didn’t even know how I should feel about this diagnosis. Was it serious? Was it no big deal? I felt I got conflicting information from doctors, but the evidence of my eyes was that this kid was sick— a lot. On the other hand, when she wasn’t sick she seemed so well it was hard to know how seriously to take the problem. I was devastated to find that there was no group, and felt more isolated than ever.
As with most projects, the notion that maybe I should just go ahead and start a patient group developed over time. Eventually my frustration at the guesswork involved in treating PCD overcame my intimidation about not knowing how to create a "foundation." Clearly research and the attention of the medical community were desperately needed. Experienced or not, we needed a dedicated patient group.
Meghan was 7 at the time of her diagnosis in 1990. By that time, we had run the gamut of specialists, false diagnoses, lengthy hospital stays, and ineffective therapies. Our finances were a mess, my marriage was in shambles, and we were at a complete loss as to what to try next for this child. When we finally got the diagnosis, it was such a relief to have a name for what was wrong that it never occurred to me that there would be no specific treatment and little agreement about the prognosis. Working as a medical research assistant and writer for a cardiac surgery group at the time, I had access to medical journal articles at the University of Minnesota. I immediately collected all the information I could find and created a PCD bibliography. However, much of the published material was contradictory or speculative. The clinical picture of PCD was far from clear. Partly, this was because researchers and physicians dealing with PCD were working in isolated pockets. There was no central rallying point for PCD research or treatment like the patient groups that had so successfully focused cystic fibrosis (CF) and alpha-1 (alpha 1) anti-trypsin deficiency research. I was more convinced than ever that we needed to organize.
Meghan racked up over 40 hospitalizations between diagnosis and age 18. As a single parent with two children, I was preoccupied with preserving Meghan’s respiratory health while trying to earn a living. The goal of starting and maintaining a PCD patient group was still important to me, but I didn’t see how I could manage my "real" life and still push for an organization. Plus, I had few contacts with other PCD families and wasn’t sure how to coordinate the effort.
In the late 90s I went to work in the clinical marketing division of Advanced Respiratory, Inc. (The Vest™ people). As it turned out, this position perfectly suited my background and interest in pulmonary health. I was "immersed" in mucus issues daily and I loved it! In this role, I communicated daily with patients and professionals representing a variety of disease states, including hundreds of PCD patients. Additionally, I had the opportunity to develop relationships with organizers from other patient groups and to get their advice. I also had the opportunity to attend major respiratory conferences and learned a great deal about pulmonary disease. Without exception the other non-profit groups agreed that the first step was to identify the "opinion leaders," the physicians and researchers most involved in research on PCD, and to arrange a meeting to garner their support.
Three factors emerged in 2001 that made me feel it was time to get the ball rolling: 1.) The success of the PCD research project at the University of North Carolina (UNC), 2.) The establishment of a charitable arm (The Vest Foundation) willing to sponsor a PCD group at Advanced Respiratory, and 3.) Meghan’s 18th birthday, and the realization that her transition to adulthood and independence would allow me to focus my healthcare advocacy energy elsewhere.
The UNC group (Dr.’s Peadar Noone, Margaret Leigh, Aruna Sannuti, Michael Knowles, John Carson, Maimoona Zariwala, etc.) were instrumental in helping to identify PCD opinion leaders and researchers around the world. Because of their exceptional reputation for respiratory research, they brought immediate credibility to PCD as a topic for genetic investigation. They were very supportive of the idea of a patient group.
Armed with this support, I approached the newly created Vest Foundation and asked for some "seed" money to establish a patient group for PCD patients. They were very receptive to the idea and offered to sponsor the group until we could get up and running on our own. This allowed me to concentrate on organization goals instead of being bogged down in non-profit paperwork.
Enlisting the volunteer effort of some friends (Jane Braverman, PhD, and Meghan) we decided to see what sort of public reaction the PCD Foundation would receive by exhibiting at the American Thoracic Society (ATS) conference in Atlanta in 2002. We designed a graphic, borrowed a booth, and prepared some literature for distribution.
Around this time, I was contacted by Lynn Ehrne who had gotten my name
from UNC. I told her about the ATS meeting, and she told me about the e-group she moderated on Yahoo. I was developing the clinical contacts and she was instrumental in coordinating patient communication. It was clear that by combining efforts we could move things forward. Plus, Lynn was the group "cheerleader" who had absolute faith in our ability to succeed.
Lynn was excited about our ATS debut. I was excited, but also nervous. What if none of these physicians or researchers cared about PCD? What if they thought the patient population was too small to bother with? I wondered what would happen to our goals if crucial physician support were lacking. As it turned out, I needn’t have worried. The response was overwhelming! By the end of the event, we had 270 contacts from interested physicians and researchers in 13 countries. The general sentiment was "what took you so long?"
Clearly it was time to organize a scientific meeting focused on PCD. I contacted researchers, including Matthias Salathe from the University of Miami. In addition to his ciliary research, Dr. Salathe organizes an international group of researchers, The Mucus, Cilia, and Mucociliary Interaction Interest Group, which meets every two years. Dr. Salathe invited us to co-sponsor their upcoming meeting in November, 2002. With funding from The Vest Foundation, we had our first scientific symposium devoted to PCD. (see footnote)
The goal of most scientific meetings is to assess the current state of research and to develop priorities and strategies for future research. The Miami meeting allowed us to bring together the small international community of researchers who were collaborating with UNC in identifying PCD genetics. The efforts of this group were hampered by a shortage of funding and of "raw material" (patients with the disorder who could provide genetic samples). The need for more research on nasal nitric oxide measurements, a promising screening tool for PCD, was also discussed. Another problem identified and addressed in Miami was the difficulty in finding clinicians and pathologists willing to make the diagnosis, even when PCD is suspected.
From this information, we began to brainstorm the idea of a PCD treatment network, similar to the "Centers of Excellence" established by the CF community. The PCD network centers would be instrumental in developing standards of care for PCD and would serve as "diagnostic" centers for other physicians without access to the necessary resources. There is tremendous interest in this concept and it is still in development. As usual, the funding required to establish this network is currently not available, but we (PCD Foundation, UNC folks, etc) are diligently trying to find the funds.
So we had gauged PCD interest at ATS, convened interested parties in Miami, and developed a preliminary strategy for improving PCD care. Now we needed to get patient perspective and involvement. Several patients were already actively participating in PCD Foundation projects, but we wanted to encourage everyone to feel a sense of ownership in the foundation. We started with the first annual PCD Family Education Event (see article in newsletter #1) in Minneapolis. It was a wonderful chance to get to meet each other, share stories, and learn about PCD. The speakers also helped to graphically represent the frustration experienced by physicians at the lack of PCD treatment information available to them. The most stunning example of this was a slide presented by Dr. Dunitz of the University of Minnesota. The slide addressed the issue of existing evidence physicians can turn to when determining appropriate treatment for PCD patients. It was blank!
So why are we a "foundation," a name that implies a money dispensing organization? Two reasons, 1.) the name PCD Organization was already taken, and 2.) one of our major goals is to raise funds to finance research projects. The name seems a little "lofty" when you consider that the PCD Foundation is currently me sitting at my dining room table with an antiquated computer, trying to keep the cats out of the printer (I also have a "mobile" office when I plug my phone into my car lighter). However, we will grow into our name, not because we should or because it would be nice, but because we have to. Here’s why:
There are three primary genetic lung diseases; CF, alpha-1, and PCD. CF and alpha-1 are both well-organized and well-funded. The research sponsored by these organizations has helped countless people with any number of disorders. PCD is unique in that it is an impairment of a basic component of a system that is present in every human being, the pulmonary host defense system. Treatments derived from research done in PCD can potentially benefit not only PCD patients and their families, but the millions of people affected by other respiratory diseases, as well. The importance of this research is already appreciated by top pulmonary experts. Our job is to spread the word, find the funds, and not allow PCD to get lost in the world of "orphan" diseases.
Lack of basic operating funds is the single most critical threat to our survival at the moment. With the change in our relationship with The Vest Foundation (due to a corporate merger), things like our toll-free number, access to postage and printing supplies, and support for conferences is gone. Payments for web hosting, a PO Box, etc. are being donated by individuals, but it is a hardship for some of the people involved. We need your ideas and help with fundraising! We are also working with a fund-development consultant (who is volunteering her services) who has some good ideas for creating revenue. Please remember that I am no more of an expert than any of you (and probably less than some of you!) at making this work, so don’t hesitate to share ideas, make suggestions, etc. If they are not implemented right away, it’s most likely because we can’t afford to, not because they are not appreciated! Together, we will make this happen!
To give you an idea of the costs involved in conference appearances and meeting sponsorship, the cost for us to attend ATS (even at the discounted non-profit rate for booth space) and associated charges for staffing the booth, etc. was $6,130. Our portion of the Miami meeting (airfare and lodging for participants—we were not able to afford to pay our speakers) was $23,000. For ATS (and several other conferences), The Vest Foundation picked up the cost in its entirety. For the Miami meeting, we raised about $7,000 and the Vest Foundation picked up the rest.