Being diagnosed with a rare disease often offers challenges that might seem insurmountable to some. Patients and family members who have a loved one diagnosed with malignant mesothelioma know of the challenges that are faced with the diagnosis, access to treatment and decisions regarding the right treatment and the timing of when to have the treatment.
Mesothelioma is a rare disease that has developed a supportive community over the past approximately 15 years that gives patients and families hope along their journey.
Perhaps you have seen the news coverage of Talia Duff and her battle with a rare genetic disease. Talia is a six grader from Ipswich Massachusetts who has a life-threatening disease, Charcot Marie Tooth Neuropathy Type 4J or CMT4J. It is a progressive neurodegenerative disease that affects the nerves that lay outside of the brain and the spinal cord causing profound weakness of the limbs leading to paralysis and later difficulty breathing as the disease advances. This disease is a subset of another disease, Charcot-Marie-Tooth, which is a hereditary disease of the nervous system. Charcot-Marie-Tooth affects 1 in 2,500 Americans. CMT4J affects approximately 22 known victims worldwide. Talia is currently in a wheelchair as her mobility has been affected.
Talia’s parents were understandably devastated by the news and with the options. There are no clinical trials, no treatment and they felt no hope. They researched the internet and brought together interested researchers, one of them, Dr. Jun Li at Vanderbilt who has studied CMT4J. The researchers believe the gene FIG4 mutation causes CMT4J, the thought is to advance the gene therapy and replace the mutated gene with a healthy gene. By doing the procedure it would not only halt the disease but allow peripheral nerves to heal and give Talia back some of her strength. This needs to go through more research including a Clinical Trial. The cost of this happening would be time and money- 1 million dollars. Talia and her family had neither.
Talia’s parents started a 501c foundation for contributions, a website, www.cureCMT4J.org/talia and started brainstorming to find a way to make it happen. They turned to social media. The community responded. There were baseball games, shoelace sales, 50/50 raffles and numerous other fundraisers. Talia’s six grade classmates began getting involved. Selling ingredients to make cookies in a glass jar, raffles, they did a video that appeared on national television. Her parents appeal was in People magazine. In December, they conducted a “twitterstorm” held by her classmates and teen agers from surrounding communities to raise the remaining $200,000. Talia and her parents reached the goal of a million dollars and announced it at an assembly of her classmates in early January.
Rare diseases such as malignant mesothelioma, and CMT4J need a community, support, research and hope.
As nurses, we have the good fortune of being able to put names and faces and people’s stories to people with malignant mesothelioma. Talia and her community have now put a face to another rare debilitating disease, CMT4J. We all pray that the results will be positive for Talia and her family. We look forward to a time when in the words of Mrs. Duff, “We’re so overwhelmed with gratitude for everyone who has gotten us this far. And now Talia is giving other families hope. To every family out there in a similar fight, we want to say, ‘Don’t give up. Anything is possible.’