Elizabeth Ouellette

CMTA patient and family conferences: emerging partnerships

Elizabeth Ouellette, Vice Chair, Charcot-Marie-Tooth Association Board of Directors

At 8 am on August 29, 2015, the Seaport Hotel in downtown Boston will open its doors to the Charcot-Marie-Tooth (CMT) community—patients, families, caregivers, clinicians, researchers, and sponsors, all coming together to network, collaborate, and partner in the fight against CMT.

Affecting more than 150,000 Americans and 2.8 million people worldwide, CMT is a group of inherited disorders that affect the peripheral nerves—the nerves outside the brain and spinal cord. There are more than 80 kinds of CMT, each caused by a different genetic mutation, and more causes are being discovered every year. CMT is a slowly progressive disorder, resulting in muscle weakness and gradual loss of sensation in the arms, legs, hands, and feet. The disease is named after three physicians, two French and one British, who first described it in 1886. To date, there are no known treatments or cures.

That said, subtypes of CMT can be associated with different severities and symptoms. Because the clinical presentation varies by individual, it can be difficult to distinguish the subtypes based on disease presentation alone. Genetic testing can identify the specific subtype of CMT, which can sometimes help predict disease prognosis and progression, and can enable patients to enroll in clinical trials. In certain circumstances, it can also facilitate early detection and treatment of symptoms.

In the United States, CMT is considered a rare disorder because it affects fewer than 200,000 people. The Charcot-Marie-Tooth Association (CMTA) works hard to ensure that the people who have this “rare” disease do not deal with it alone or in isolation. Through our patient and family conferences, CMTA brings together as many patients, physicians, and supporters as possible. In fact, folks travel from all around the globe for the opportunity to come together, under one roof, to exchange information, share stories, and create friendships to last a lifetime.

In this relaxed environment, individuals with CMT have unfettered access to CMT clinicians, who benefit from interacting with the people who live with the disorder on a daily basis—the real experts. These face-to-face interactions help doctors provide the best possible care in a way that is truly patient- and family-centered. Moreover, the knowledge-sharing and collaborative aspects of these in-person meetings lead to empowering experiences, enabling attendees to be the best possible advocates for themselves and their loved ones.

If you have CMT or know someone with CMT, you are not alone! The upcoming Boston CMT Patient and Family Conference will provide an invaluable opportunity for those with CMT and their families to learn more about the latest advances in CMT research, treatment, and care. CMTA’s comprehensive agenda will include treatment-specific sessions, symptom management strategies, motivational speakers, lunch with CMT experts, research updates, and much more.

We hope to see you in Boston or at other conferences in the near future. And many thanks to our sponsors, notably Invitae, who promote CMT awareness in the community and provide the funding necessary to make these conferences possible.

To find out more, please visit the CMTA and Boston CMT Patient and Family Conference websites.