Three years ago, Sarah and Sam Pontifex of Adelaide, Australia, had never heard of myotonic dystrophy, but their three children were experiencing shared symptoms that they knew could not be the result of mere coincidence. Unfortunately, when they consulted doctors they were repeatedly told that Lucy’s extreme fatigue, Sophie’s club feet, Harry’s speech and motor difficulties, and all three children’s developmental delays were unrelated. Although some of their questions were answered when Sam and all three of the children were diagnosed with DM1, they continue to feel that those around them – including their doctors – do not fully understand what a diagnosis of myotonic dystrophy really means and what the impact of the disease has been on their family.
As the family caregiver, Sarah has had to navigate the medical, therapeutic and educational landscapes on her own. “It often feels like a long and lonely journey when everyone else around you seems so mainstream,” Sarah says. Sarah and Sam have often been told that they are simply overprotective parents, that their gastrointestinal issues are due to stress, and that their children will outgrow their symptoms as they get older. When Sarah discovered the Myotonic website earlier this year she finally received validation that what her children and husband were experiencing was typical for a DM diagnosis and that their struggles were very real.
Speaking to other Myotonic community members has been enormously helpful for Sarah and Sam. Earlier this fall, Sarah made a trip to California and for the first time met with others impacted by myotonic dystrophy. She also met with the Myotonic team to learn more about the disease and the resources available to her. The family plans to attend the 2015 Myotonic Annual Conference in Washington, DC, in order to continue their education and build a supportive network of others engaged in the DM journey.
Though Sarah hasn't met other Australians with myotonic dystrophy, she has been able to connect with Myotonic community members through the Myotonic Caregivers Group, the Myotonicwebsite, and the Dispatch newsletter. She particularly enjoys the family stories. “They are heartwarming and provide me with a great deal of comfort and inspiration,” she says. “Whenever I feel a little bit lonely or isolated from friends, I always turn to Myotonic’s website and its wonderful resources.”
Throughout the month of November, Myotonic will celebrate caregivers like Sarah from around the world by featuring their stories during National Family Caregivers’ Month.