2016 Family Day and Annual Conference Report
On July 22, 2016 Family Day was underway. The organization paid admission and exhibit fees to COSI (Center of Science & Industry) for all who attended. The fun began with the “Adventure in the Valley of the Unknown” where we had to follow clues of an ancient culture to unlock the Observatory of Knowledge. Next we visited the Planetarium and went on a Star Safari, where Orion the master scout introduced us to the animals found in the night sky. Later, we visited the exhibits of Progress, Gadgets, Life Labs, Game Masters, and Ocean Life, just to name a few. It was a great day, and enjoyed by everyone of all ages.
On July 23, 2016 the Global CMTC-OVM US Organization held their annual conference. This year the conference was located in Columbus, Ohio at the Courtyard Marriott Downtown. There were 8 states and 3 countries represented by those in attendance. Upon arrival, each family was given a booklet containing the Agenda, Board of Directors bios, a Financial & Fundraising piece, How to be an Advocate article, and a place for note taking. New color changing cups with the organization logo were also given to everyone. They change with the temperature of the liquid inside, changing to purple when cold, and a frosty white when warm. Hmm, what else changes under these conditions?
HIPAA – In the effort to remain complaint with our federal laws, the CMTC-OVM US Organization has incorporated HIPAA into our standard practice. Each patient/caregiver completed a HIPAA form, that was signed by the organization president, and returned to them at the conference. The medical team expressed their admiration, appreciation, and approval of our new practice.
CMTC-OVM US President Rebecca “Bec” Gallis, opened the conference with an overview of the organization and the introduction of the Board of Directors. During her presentation she identified the 6 conferences in which the organization will be represented at in 2016. Recognition was given to the 2 affiliations where the organization holds membership: NORD National Organization of Rare Diseases and Global Genes Rare Foundation Alliance. Also, an explanation of the Rev. Dr. Edward Gallis Memorial Scholarship was given. The Gallis Family was once again delighted to provide a financial contribution, to supplement one family’s travel expenses to the conference.
A financial report was provided by Treasurer Tabatha Broussard. Her presentation included the dynamics of our financial status, stressing the critical role our members play. It was stated that our operating capital comes from paid memberships, fundraisers, and outside donations. After defining where our funding originates, Tabatha explained how it is spent. She commented that the annual conference typically ranges from $2500 to $4500 per year, clarifying this is our largest expenditure. She continued with providing the details of how we afford to be represented at other conferences, by means of travel scholarships offered by each hosting organization. These travel scholarships cover the majority of our expenses, as we continue to spread awareness of our organization and the rare diseases we represent.
Andrea West, Fundraising Chairperson, spoke next about the organizations fundraising activities. She described the current campaigns; t-shirts, bracelets, Beef-n-Beer, and Amazon Smile. Of course, the Beef-n-Beer required a definition as it appears to be an event native to New Jersey. This fundraiser has created the largest revenue to date, and Andrea is currently planning another one for later this year. She stated that people using Amazon Smile have contributed approximately $400 over the past year, and then provided the process to those in attendance of how to use this income generating tool.
Lex Van der Heijden represented the Dutch CMTC-OVM Organization. Lex provided an overview of the activities in that organization over the past year, as well as some objectives for the future.
A new resource introduced to our members was PALS, Patient AirLift Services. Jaime Pacheco, outreach coordinator, gave a presentation about the services provided by PALS. This is an excellent way for you to get where you need to be, with less stress. Their motto is: Changing Lives, One Flight at a Time. They arrange free air transportation for individuals requiring medical diagnosis, treatment, or follow-up to those living in the northeastern United States. For those outside of their region, they will connect you with the flight servicer in your area. All pilots are volunteers who receive no compensation, and use their own aircraft or rented aircraft. Best of all, there is no charge to the patient or their family. Visit their website to see if they can assist you. PALS.
Dr. Carina Siracusa provided an information filled presentation regarding the importance of physical therapy. Carina, a graduate of Marietta College and Ohio University, was a physical therapist for one our members for 9 years. As she was assessing and treating this patient, she was also learning from this patient. As this was her first experience with CMTC and a significant overgrowth/leg length discrepancy and all that was involved with the patient’s diagnoses. Dr. Siracusa instructed on proper stance and swing within the gait of an individual, describing the abnormalities often involved with low muscle tone and/or asymmetrical anatomy. She later covered the use of AFO’s (ankle-foot orthosis) and the various types. As well as the best type of crutches (forearm crutches), walkers (posterior walkers), and wheelchairs available for children. When asked how to get an appointment with a physical therapist, she replied any doctor can write the order. She received questions on various topics ranging from the best type of shoes to the advantages of hydrotherapy. Dr. Siracusa also provided consultation to those requesting her expertise.
Next was Dr. Elias Traboulsi who covered the disciplines of ophthalmology and genetics. The Head of the Department of Pediatric Ophthalmology and Director of the Center for Genetic Eye Diseases at Cleveland Clinic’s Cole Eye Institute – Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University – Director of the Ophthalmology Residency Program at Cleveland Clinic – Chairman of the Department of Graduate Medical Education at Cleveland Clinic – Board Certified Genecist, Dr. Traboulsi was an excellent addition to our medical team at this year’s conference.
He began with educating on the anatomy of the eye, illustrating the location and definition of each part. Describing the proper function of the eye, he defined how each part relies upon the next. Glaucoma was covered in-depth, as this is a risk with those diagnosed with CMTC. There was much discussion related to this topic. Dr. Traboulsi shared photos comparing a normal healthy eye, and one with glaucoma. It was crucial that he clarify that glaucoma pertains to pressure within the eye, as opposed to pressure behind the eye. He also presented a photo of one of our member’s who has multiple vascular deficits within the eye, defining the dilation of vessels in addition to the irregular display of the vessels. We had several patients present who have been diagnosed with glaucoma, and this was the first year we have had the discipline of ophthalmology represented. Dr. Traboulsi also provided consultation to those requesting an assessment.
Returning this year was Dr. Joan Tamburro, an exceptional member of the VAC (vascular anomalies clinic) team and a leading dermatological specialist at Cleveland Clinic. Her presentation started with talking about the very difficult knowledge of nomenclature (the devising or choosing of names for things in science and medicine). When we learn things, we often continue to refer to them in same the manner in which we were taught. While we were instructed on a topic using one description, someone else was likely instructed on the same topic using a different description. This process can easily create confusion. For example, one doctor may diagnosis a hemangioma (a growth that forms due to an abnormal collection of blood vessels), another may diagnosis the same deficit as dilated blood vessels. Or, while one may refer to CMTC as lesions, another might suggest they are noted as markings. One definitely sounds more threatening than the other. Therefore, making nomenclature understanding extremely complex. Another issue that increases misunderstanding is the need to determine if a patient has malformed vessels or extra vessels. Dr. Tamburro stated rare diseases do not have “standards” which often enhances the complexity of the understanding of nomenclature.
Continuing, she shared the importance of patients being seen by a VAC team. These teams have changed over the years. They first had only a few disciplines represented on the team, to now having dermatology, genetics, ophthalmology, orthopedics, cardiology, interventional radiology, gastroenterology, pulmonary, endocrinology, pathology, hematology, pediatric surgery, and plastic surgery. She reported that the Cleveland Clinic also has a psychologist on their VAC team. Most of these teams meet monthly or bi-weekly.
Dr. Tamburro also noted there are advances being made in regards to capillary and vascular malformations. She professionally and discreetly described the need for biopsies, and how they are performed. She communicated the breakthroughs related to Beta blockers on infantile hemangiomas, and Sirolimus for lymphangiomas.
During her presentation several questions were asked and discussions occurred between members, herself, and Dr. Traboulsi. It was a wonderful time of learning, as no question was left unanswered. Following lunch, Dr. Tamburro performed clinical evaluations late into the evening.
This year we used a blog to inform participants of things such as: what time to meet for Family Day and where – the location of the general session. We had to use a blog, as we were notified 4 weeks before the conference, that the free app service we used last year would no longer be available. We are currently researching free apps to use next year.
We were fortunate to have a volunteer for the kid’s room, thank you Renee Smith for your help. The room was filled with board games, cards, coloring books with crayons and markers, a giant twister game, and more. They played musical chairs, and even wrote and performed a play with 2 performances, “Sherlock Holmes is Coming to Town.” Not only did they perform for us, we were also served beverages during the play!
In the past, the kids room and the general session room have been in a large room separated by a partial air-wall. However, this year that was not an option. Typically parents have liked having their kids where they can see them, but this year some stated it was nice having the separation. The board will consider this for next year.
To continue the efforts to accommodate as many members as possible, we will be in a different location for the 2017 Annual Conference. The Board of Directors is currently researching locations, and will announce where the 2017 conference will be held next year, sometime this fall. Stay tuned, the annual conference will be coming to a city near you.