It Runs in the Family
In March of 2015, genetic testing revealed our mutations reside in the same gene, LMNA. Priscilla and I are happy to share our very unique story with the world, as we hope that learning more about what has led us to led such different lives may allow physicians and scientists to develop pharmaceuticals to enhance muscle development, not only for those with muscle disease, but perhaps for millions needing a boost to recover from injury or combat the muscle decline associated with aging.
All funds donated will be used specifically to facilitate research on patients with EDMD related muscle atrophy in attempt to understand the disease mechanism, and perhaps someday to devise treatment options. Though I may never know the benefits of the research, I want to pursue this goal in order to help others who come after me. I am thankful for any donation, large or small.
I'm sorry it has taken me a while to post an update. I hope to have more in the future. :) There have been some exciting developments in my campaign, and I'd love to keep you posted. Shortly after the "This American Life" broadcast, I was contacted by Congenica, a British biotech company. They were very moved by the story and wanted to offer whole genome sequencing and analysis to several members of my family and to Priscilla. Working in connection with Hudson Alpha, a U.S. based genetic sequencing corportation, they have sequenced our genomes and are now in the analysis phase. Hopefully information will be gained that may explain the very different muscle physiology of each of us. I would love to keep all of you posted.
Oringinally I had hoped to use funds raised for travel funds for those wishing to travel to see a doctor familiar with laminopathy diseases. Unfortunately, I didn't have a family ready to use these funds. But, on a positive note, the Mayo Clinic has moved in a very progressive direction with laminopathy patients, and they offer coordinated care for any one with a mutation in the lamin gene with a team made up of a neurologist, cardiologist, and an endocrinologist. Hopefully, incredible leaps forward will continue to be made as patients I grouped into specialized care according to genetics. This was my ultimate goal for my fundraising campaign, and I am so happy to see that Mayo has instituted these changes.
I am excited to let you know that I have been invited to speak at a laminopathy conference in Bologna, Italy in April of next year. I wanted to check with my donors to see if you would be interested in using the funds you've generously donated to share my story at this conference. If, for any reason, you do not wish to support this change in fundng purposes I am very happy to refund your donation with no questions asked.
I do need to travel abroad with a companion (either my husband or my mother) as I cannot travel alone, but if my son accompanied us, we would pay for his ticket as he is not affected by this genetic disorder.
Here is a link to the conference if you'd like more information: http://www.aidmed.org/4/international_meeting_2017_887295.html
Additionally I would have the chance to meet several others with Emery-Dreifuss muscular dystrophy inlcuding patients from Italy, France and Iceland. It would be a dream come true for me.
I would love to stay in touch and post updates.
Please feel free to contact me with any concerns or questions.
I trust your judgment to use the funds as you deem necessary. Thank you for what you are doing.
I think this would be a wonderful use of the funds. Safe travels
Wonderful story! I had dinner with a woman with lipodystrophy at the Global Genes Patient Advocacy Gala last fall. Have you connected with any patient advocacy groups for your genetic disorders? Global Genes and Genetic Alliance could be good resources, if you haven't already found them. Our family has encountered similar challenges with a different point mutation, Leber's Hereditary Optic Neuropathy (LHON) which causes sudden onset blindness. Congratulations on all you've accomplished!
Wow! Our son was diagnosed just two years ago with LMNA. We were told there were only three in the world. Now LMNA is being heard of more and more. My understanding was the specialists with LMNA are in Barcelona. We just sent 7 disks of skans, reports etc of our son' medical reports just a month before he passed. Thomas was 18. Physically helpless, but brilliant. He left us far too soon. Good luck with your journey. Sending hugs !