So many of you have inquired about how the 2nd Annual Melorheostosis Conference went. I have personally answered this question by describing it in such broad terms as: “moving”,“unbelievable” and “awesome”. It was indeed all of these, but such words leave a lot to the imagination. Therefore, I am taking this opportunity to fill in some of the details for those of you who were not able to attend this year.

The Conference, which was created, hosted and sponsored by the US Melorheostosis Association, was scheduled to begin on Tuesday, August 24th, but due to the tremendous anticipation shared by participants and our Scientific/Medical Panel alike, many of us arrived a day early.

The joy of meeting one another after months—and in some cases, years—of trading messages back-and-forth over the website bulletin board was…well, indescribable.

My mother, who so generously accompanied me in order to take care of Monica, likened the experience to what must transpire when an adopted child finally meets his/her biological mother or father. There was an instant bonding and recognition that could only take place among those who have shared exceptional life circumstances.

Several of us spent the day prior to the conference’s start sharing our stories with one another and showing and discussing our x-rays and medical histories with Dr. Fred Kaplan, Chair of the Scientific/Medical Advisory Committee.

The conference officially began on the evening of the 24th with a lovely wine reception. Although the emphasis of the event was definitely social, the entire group ended up sitting in a large circle with Drs. Kaplan, Shore and Whyte, discussing melorheostosis: its seemingly random occurrence, its vast difference in presentation from one individual to the next, its potential link to osteopoikilosis, whether it may be hereditary, and on and on. One could almost see the wheels in Drs. Kaplan’s, Shore’s and Whyte’s heads turn as we talked late into the night.

Carolyn Parker, a frequent participant in web site discussions, shared the exciting news that her family and she are participating in a study being conducted by Dr. Struk of Berlin. The study, in part, is looking at the connection between melorheostosis and osteopoikilosis. Much to our shock, Carolyn revealed that 70 members of her extended family have osteopoikilosis and one of her first cousins also has melorheostosis. The Scientific/Medical Panel was enthused about the implications of such a study, noting that the large size of the family and prevalence of osteopoikilosis will facilitate identification and future study of the gene(s) responsible for these diseases.

During the following day, participants were privileged to have several members of our Scientific/Medical Advisory Panel present reports.

Dr. Michael Whyte, Medical-Scientific Director, Center for Metabolic Bone Disease & Molecular Research at Washington University, gave a fascinating talk on the links between melorheostosis and a number of other sclerosing bone conditions. Some of these diseases, such as Pagets, are better understood and more widely researched than melorheostosis. As such, they potentially hold important clues for better understanding the disease process involved in melorheostosis.

Dr. Jill Helms, Associate Professor, Department of Plastic and Reconstructive Surgery at Stanford University, gave a presentation on the etiology of melorheostosis: clues from developmental biology. One of the curiosities of melorheostosis is that it tends to predominantly affect the limbs but rarely is found in the skull. The fact that the embryonic skull is formed from a different type of cell than those that create the developing limb may explain why this is so. But why one type of cell is more susceptible to this disease than another is unknown. Dr. Helm’s research is directed at resolving this question.

Dr. Pam Robey, formerly of our panel and Chief of the Craniofacial and Skeletal Diseases Branch of NIH, discussed stem cell biology in reference to understanding the origins of melorheostosis. She taught us about stem cells, how they work, and the importance of stem cells in research. Dr. Robey fielded some amazing questions from patients and Panel members alike. Dr. Robey emphasized the importance of creating and maintaining a patient registry for researching and gauging the demographics of melorheostosis. [Since the conference, Dr. Robey has indicated her willingness to guide the Association in establishing a patient registry. We plan to discuss this issue further with her in the upcoming weeks. At the same time, we plan to explore the possibility of setting up a central, neutral repository where patients could submit their DNA, blood, and tissues for research purposes.]

Dr. Eileen Shore, Research Associate Professor of Orthopaedic Surgery at the University of Pennsylvania, talked about her and her colleagues’ work on both FOP and POH. These particular bone diseases are destructive and devastating beyond words, and ultimately result in premature death. Her group continues to pursue the hunt for the gene responsible for FOP (this disease causes soft tissue to turn into bone). Her team’s relentless work has yielded some intriguing possibilities as to why bone metabolism can sometimes go terribly awry, but as of yet, the culprit gene(s) for FOP has eluded detection.

Dr. Jeff King, the newest addition to our Scientific/Medical Panel and Clinical Associate Professor at Michigan State University, gave an informative presentation on the orthopaedic aspects of melorheostosis. Dr. King has analyzed results on the surgical outcomes of numerous melorheostosis patients. His statistics and findings, which underscore surgery’s general lack of effectiveness in addressing melorheostotic problems, indicate a pervasive lack of knowledge on most doctors’ parts regarding this disease and how best to treat it. Several of the participants recounted their own unsuccessful experiences with surgery. Dr. King requested that these individuals secure their surgical notes for him so that he can add them to his study. He hopes to publish his study in the near future, providing clinicians and surgeons with a more definitive guide as to the circumstances under which surgery is most likely to prove successful in mitigating symptoms.

At dinner on the evening of the 25th, Dr. Fred Kaplan, head of our Scientific/Medical Panel and Chief of the Metabolic Bone Diseases and Molecular Medicine at University of Pennsylvania, gave a stirring keynote speech on the search for answers to melorheostosis. Dr.Kaplan recounted how, as a college student, he had managed to sneak into an abandoned hospital which had been built to house Tuberculosis patients. This hospital was filled with row after row of “brand new” iron lungs, never used. His poignant message was not lost on the group: a cure for TB had been found before the construction on the hospital was finished. Dr. Kaplan’s story was inspiring and hopeful.

The search for the answers to melorheostosis, albeit fraught with frustration, will culminate in a similar ending someday, with the discovery of a cure or effective treatments. At that point, our Association will happily disband.

On Thursday, the 26th, several members of the Scientific/Medical Panel met with each participant individually to look at their x-rays and MRI’s, to hear their stories related to melorheostosis and to ask questions about different aspects of their treatment and medical histories. These sessions were not intended to be treatment-oriented, but rather represented an opportunity for the researchers and doctors to glean observations, ask questions and to generally piece together a better understanding of this puzzling disease. As Dr. Kaplan remarked: “It is rare that a doctor—even in the specialized area of orthopaedics—would stumble across more than 1-2 cases of melorheostosis in his/her professional lifetime. The number of patients we have seen today represents a veritable wealth of new and revealing information!”

While Drs. Kaplan, Shore and Helms were busy talking to patients, faculty members from MSU gave informative presentations on a variety of subjects. The following briefly summarizes the wealth of knowledge these individuals shared with patients.

Dr. Laura McCabe, Associate Professor of Physiology and Radiology, spoke on the response of bone dynamics to exercise, aging and disease. Dr. McCabe taught patients about the normal bone remodeling process and compared the normal process to what happens with other bone disorders such as osteoporosis. This talk provided patients with a visual perspective on how bones grow and stimulated discussion on what could be going wrong with melorheostotic bone.

Dr. Mark DeLano, Associate Professor of Radiology, educated us on radiological imaging, giving constructive advice on the amount and type of radiation that is dispensed as one is subjected to various imaging tests. While Dr. DeLano stressed that all forms of current testing are safe (x-rays, MRI’s, bone and cat scans), he encouraged patients to refrain from having tests if it is unlikely that the imaging test will result in an amended treatment plan. In other words, he encouraged patients not to get x-rays every 6 months just for the sake of getting x-rays.

Dr. Jeffrey Kovan, Director of MSU Sports Medicine, spoke on the benefits of physical therapy in establishing improved function and pain reduction. Dr. Kovan said that the ‘no pain, no gain’ philosophy has been abandoned, and strongly encouraged patients not to ‘work through pain’. He said, ‘pain means—stop’. Dr. Kovan encouraged stretching exercises to increase range of motion. For pain management, he suggested use of an electrical nerve stimulation device (TENS Unit), medical patches (Licoderm, thermal wraps), and topical anesthetics.

Dr. Rachel Fisher, Professor of Pediatrics and Human Development, spoke on how genetics can help us understand disease. Dr. Fisher defined in layman’s terms the words commonly used by geneticists like proteins, DNA, genetic code, mutations and chromosomes. She then explained how genes are passed along to offspring by using a ‘fat cat’ model (you had to have been there!). She also explained how a genetic disease can be both inherited and sporadic. Dr. Fisher’s talk shed new light for everyone in relation to the genetic-based talks which were heard the day before by Drs. Whyte, Helms, Shore, Robey, Kaplan and King.

Dr. Janet Osuch, Professor of Surgery, gave a touching account of her personal battles with cancer, her many years experience in advocacy, her involvement with breast cancer initiatives, and a brief overview of the role epidemiology (the number of estimated incidences of a disease) plays in securing resources. Dr. Osuch stressed the importance of developing policies and procedures in order to maintain an effective advocacy organization. She cautioned our group about many organizational pitfalls to avoid (such as bad press coverage due to financial mismanagement), and about how groups who do not take the time to properly document and think out the governing rules of their organization generally fail.

Each day, we also had the benefit of having a keynote speaker at lunch. On Wednesday, Dr. Cam Riessinger, Psychologist, Sparrow Health Systems, spoke on the topic of pain management (an issue of pressing importance to most of our participants). She explained how chronic pain can be a huge problem for not only the patient, but the family as well. Dr. Riessinger gave many helpful tips for coping with pain, and strongly encouraged patients to seek help from local pain clinics. Most clinics take a multidisciplinary approach to treating patients suffering from chronic pain, including physicians who specialize in pain management, nurses, psychologists, physical therapists, etc.

On Thursday, Dr. Elizabeth Alexander, MSU University Physician, spoke eloquently on the dilemma of finding the “right” doctor when one is confronted with a rare disease and how best to establish a productive patient-doctor relationship. Her topic was “Unusual Diseases, Ordinary People, and Finding the Right Fit.” Dr. Alexander cleverly reminded us that doctors are people too, and as such, can sometimes be as overwhelmed as the patient when faced with dealing with a rare and mostly undefined disease. Dr. Alexander encouraged patients to request a ‘double appointment time’ if there were many topics to discuss with the physician, rather than trying to fit a long list of topics/ailments into a 15-minute slot. Interestingly enough, this talk touched not only the patients, but the Panel doctors as well.

The conference formally ended late Thursday afternoon, but several participants extended their stay until Friday, the 27th, not wanting the week and the special camaraderie to end. When the good-byes were finally said, there were hugs and tears all around. The comfort in knowing another conference is planned for next year helped as the participants and doctors bade their farewells.

The Conference—by all measurements—was successful beyond our wildest dreams. It brought so many of us together: names on the melorheostosis website bulletin board before, lifetime friends now. It assembled a world-renowned group of scientists, facilitated their thinking, challenged their assumptions, created new impressions and generally provided a rich source of information for proceeding with more enlightened study.

None of this would have happened were it not for the able and tireless efforts of Alice Albin, Board Secretary. Alice worked non-stop from April on, setting up the conference facilities, identifying and coordinating the presenters, planning the meals, arranging the Advisory Panel’s travel, constantly trouble-shooting and serving as our fearless task master. Words cannot begin to adequately express our appreciation for all her efforts. Alice also received tremendous help from Dr. Laura McCabe, MSU Associate Professor, who helped in planning and arranging the MSU speakers. The Association is indebted to her as well.

As I recall this historic conference, further research efforts are unfolding at breathtaking speed. In Belgium, Dr. Geert Mortier, along with a group of 20 other scientists, have discovered the gene responsible for causing melorheostosis and osteopoikilosis.

Dr. Mortier has expressed his willingness to meet with our group to present his data. He has also enthusiastically accepted our invitation to join the Scientific/Medical Advisory Panel. During this next year, he plans toperform further mutational analysis of this gene in additional patients.

Dr. Pam Robey is directing our efforts to establish a worldwide bone, blood and tissue repository. And in Berlin, Dr. Struk’s important work on understanding osteopoikilosis and melorheostosis continues, with the potential for shedding more light on melorheostosis’ elusive nature.It was a wonderful and historic conference, and next year’s will be even better, given the promising strides in research that have been made recently. We hope that everyone will be able to attend the 3rdAnnual Melorheostosis Conference, time and place to be announced once Dr. Mortier informs us of his availability.