Rare Beyond Compare ...

How CMTC-OVM US Was Formed

In 2011, the Global CMTC-OVM US Organization was formed solely by US members. The documents were filed by an attorney to legally become a non-profit 501 (c) (3) charity organization; this was paid through a loan from one of our families.

From that point forward, the CMTC-OVM US Organization has been a private entity governed by no other organization. We operate by the guidance of a board of directors. And, all financial support is received through our members, donors, and fundraising projects.

Where In The World?

We invite you to participate in building our world map. You may share as much, or as little, information as you wish. You may remain completely anonymous. We ask that you at least share your general location and your vascular malformation diagnosis. Click the world below to set your pin.

CMTC-OVM US does not add your information. Your participation is strictly your decision and responsibility.
This mapping service uses a secure socket layer to encrypt data, providing security for your benefit.

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For your protection and security, the CMTC-OVM US website has received SSL certification. Secure Sockets Layer (SSL) is the security technology for establishing an encrypted link that ensures all data passed between the web server and browsers remain private and integral.

Calendar

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Genetic Research

The actual state of the research is that we are inviting participation from those with classic CMTC. The study involves providing a blood or saliva sample as well as a 3 mm diameter round skin biopsy. We plan to sequence both and look for differences. Thus far we have 2 participants from Canada and one from Holland, we need 2 more to begin.” ~Dr. Millan Patel

To participate in this study, consult your Vascular Anomalies Team or Dermatologist to schedule the biopsy and make arrangements for the specimens to be sent to Dr. Patel.

You may contact Dr. Patel and his collaborator directly:

Dr. Millan Patel

Dr. Anna Lehman

  Global CMTC-OVM US 2017 Annual Conference & Clinicals is in the books!

The annual family event and conference has come and gone for another year. This year the conference was held in Memphis, Tennessee, and it was a huge success!!! We had 8 amazing, informative presentations, a Q&A session with the physicians titled “What’s on Your Mind” that answered multiple questions, and a powerful “What’s Your Journey” session that was emotional, personal, and an extremely moving experience.

It is fascinating to report we had members in attendance from 11 states, and 3 countries! Sadly, we had 3 families that were unable to attend due to last minute circumstances. But, we look forward to them attending in the future.

It was HOT – HOT – HOT in Memphis! We could have officially written a new song titled, “Melting in Memphis!” It was 97 to 100 degrees Fahrenheit (approximately 36 degrees Celsius) with the heat index around 107/110. Click here for the full report.

Our activities are aimed at the well-being of people who suffer from vascular malformations like CMTC ('Van Lohuizen syndrome') and to stimulate the scientific research of these afflictions. Become a Member
  • 2017 NORD Annual Conference

Members-Only Pre-Conference Meeting: Sunday, October 15, 2017:

The drive to Washington D.C., was a beautiful drive through the mountains of Pennsylvania. Although the trees were not a vibrant as in the past, it was still a pleasant drive. But, after arriving at the Wardman Park Marriott for the NORD Summit, it was time to get down to business.

Peter Saltonstall, President and CEO of NORD, addressed what’s emerging and new in the world of rare disease advocacy, research, funding, and breakthroughs. In addition, Peter shared what’s on the horizon and how we, as an organization, can take full advantage of the rapidly growing interest and field of rare diseases.

The rare leader panel included: Andrea Taylor, President/Founder, A Twist of Fate; ATS – Monica Weldon, CEO/PRESIDENT/FOUNDER, Bridge the Gap Syngap Education and Research Foundation – Jeffrey Levenson, DDS LLP, APBD Research Foundation; educated on successfully engaging medical professionals.

Pamela Gavin lead the segment on board management. Effective board governance has to be strategic to be effective. It’s important to focus on where we are now as an organization, and where we are heading. Infrastructure and tools are key to being a successful board of directors. The aspects of roles and responsibilities includes establishing direction, providing oversight, creating a plan, and ensuring legal and ethical integrity.

Actively participating on social media was touched upon, outlining the importance of maintaining a somewhat controlled environment. Meaning, negative behavior by members, and how that is addressed by an organization, speaks volumes on the integrity and professionalism of the organization. All members who chose to speak on this topic, stated it is critical for the administrators of a social media group to create a code of conduct, and create a plan to address negative issues.

To close the members-only meeting, Paul Melmeyer, Director of Federal Policy, NORD, spoke about prioritizing policy prospective. The Rare Disease Advocacy Spectrum involves: Research into your disease area, Drug Development for you disease area, and Access to Therapies for your disease area.

Monday, October 16, 2017:

Peter Saltonstall gave the welcome and summit review. And we quickly jumped into the agenda for the day with the keynote speakers: Mike Porath, Founder and CEO of The Mighty, and Scott Gottlieb, M.D., Commissioner, FDA.

Mike shared the beginnings of the online community at The Mighty, where they publish real stories by real people facing real challenges. This platform was created to not only share stories, but connect with others and to raise support. According to Mike, The Mighty has 3 million people a day read their stories and watch their videos. Also, a new community member signs up ever 20 seconds.

Dr. Scott Gottlieb was sworn in as the 23rd Commissioner of Food and Drugs on May 11, 2017. Dr. Gottlieb is a physician, medical policy expert, and public health advocate who previously served as the FDA’s Deputy Commissioner for Medical and Scientific Affairs and before that, as a senior advisor to the FDA Commissioner. Patient and consumer protection are at the heart of what the FDA does. His presentation focused on proper clinical trials for rare diseases.

How can patient organizations and pharmaceutical companies work together toward shared goals without compromising ethical standards? This was the topic of the session titled, Ethical Guidelines for Patient Organizations and Industry to Collaborate. Conflict of interest, conflict of roles, and conflict of trust on an organization is key to following ethical guidelines. This is not only true for collaborating with industry, but with anyone, or any entity, of which an organization communicates.

Assuring Patient Access: Future Outlook for Patient Assistance Programs:
Although this session was lead by a panel, one panelist touch our hearts. Erin Tite adopted a daughter from Tatabanya, Hungary, her name is Zsaklin. Erin shared their struggles of getting doctors to understand Zsaklin’s symptoms were real, and that as parents they were not going to back down. Zsaklin suffers from epilepsy, but doctors did not believe. But, Erin is a mom who advocates with a strong will! She could estimate when seizures would occur, and she finally convinced doctors to schedule an EEG. However, her estimations were off by 5 days. So, when she realized seizures were imminent, she took her daughter to the doctors office, and refused to leave. Not wanting to see Zsaklin at that time, doctors were astonished when the seizures started just as Erin predicted. Long story short, patient assistance programs were a saving grace for their family, as the drug Zsaklin receives is quite expensive, and not covered by insurance.

Successful Strategies for Patient Organizations:
Start where you are, use what you have, and do what you can is the foundation of having power through advocacy, whether at the state or federal level. Colleen Clarke Muraresdu, M.S. Genetic Counselor at CHOP (Children’s Hospital of Philadelphia) spoke about creating your care team, preparing for your visit, effective communication, and being involved as part of the care team. Her presentation aligned with our information on being an advocate found here https://www.cmtcovm-us.org/cmtc-ovm-us/resources/be-an-advocate/.

Day one wrapped up with presentations regarding Healthcare Costs and Treatment Prices, the Challenges and Changes to the Orphan Drug Act, and Current Policy News and NORD’s Policy Priorities. NORD aims to encourage the development of orphan therapies and to ensure quality healthcare coverage. They also strive to protect the ACA by: Working to protect rare disease patients against discriminatory insurance medical underwriting – Opposing plans to weaken state Medicaid programs – Ensuring quality health insurance at affordable prices, by requiring Essential Health Benefits and adequate provider networks.

Tuesday, October 17, 2017:

Day two was once again, opened with NORD’s President and CEO, Peter Saltonstall. The first presentation was lead by Mike Lanthier, Operations Research Analyst, Office of the Commissioner, FDA. Over 80% of orphan drug products were initially approved as solely rare-disease treatments. Also, 85% of drugs approved for orphan diseases have not expanded to other conditions. Fewer than 10% of initial orphan approvals have added a non-rare indication to their label. Murray Atkin, Senior Vice President and Executive Director, QuintilesIMS, gave a detailed presentation regarding the commercial marketing dynamics for orphan drugs. The increased number and availability of treatments for rare diseases has resulted in higher levels of spending on these medicines. Estimated drug costs per patient per year vary widely, while the number of patients treated per year is fewer than 25,000 for almost all orphan drugs. “It’s important for public policy to be based on evidence, not anecdotes or headlines,” said Murray Aitken.

The Successful Strategies for Patient Organization session for day two, was filled with ideas for successful fundraising strategies for research. While donor retention can be difficult, it is important to reach beyond the affected community. It takes a multi-disciplined team to forge the way on research for gene therapies. The Patient-Centered Outcomes Research Institute (PCORI) is a United States-based non-governmental institute created as part of a modification to the Social Security Act by clauses in the Patient Protection and Affordable Care Act. PCORI offers funding opportunities and resources for rare disease organization.

The afternoon was full of conversations focused on items such as: Investor Perspective regarding the outlook for investments in orphan products, and Rare Disease Drug, Biological and Device Developments achievements and opportunities. Although this time was channeled toward the development of orphan drugs and the structure behind this. Andrea Furia-Helms of the FDA Office of Health and Constituent Affairs, educated on how they involve patients and advocates. This office advocates within the agency for patients. They aim to represent the patient in important discussions about regulatory decision-making. Sadly for most of our patient within the CMTC-OVM US Organization, this is a breakthrough that will have to wait for the future. However, the trajectory is currently being paved by those fortunate to have the opportunity to begin drug trials now.

The NORD Summit once again, was a time to reunite with friends, and meet new people who are sometimes working to scale the same hurdles as us. As you have now read this report, you may being thinking of this opportunity as discouraging. That couldn’t be farther from the truth. While we are not in the same position as many other rare disease organization, there is hope for us. As we wait for the time when research leads to a cure or orphan drug treatment, others are improving and perfecting the process.

This two day summit was packed full of educational opportunities. In addition to the summit agenda, Bec had the chance to meet privately with representatives from four hospitals, a representative from Global Genes, and others from the Pharma industry.

Thank you for the opportunity to represent the Global CMTC-OVM US Organization in the capacity of president, at conferences such as NORD ~ Bec