It Runs in the Family
Recently, Congenica, a biosequencing company in the U.K. graciously offered whole genome sequencing to me and my family. Congenica discovered that my brother and I (the most severely affected in our family), possess a second mutation in a modifier gene, smad7. The smad7 gene plays a crucial role in the regulation of the hormone myostatin, and this may help to explain the increasing the severity of my condition and that of my brother. My brother, Aaron, and I are the first two people in the world to be identified with a genetic mutation involving myostatin regulation though we believe others exist. We are seeking to determine if Salome also has this second mutation as her case is so very similar to ours. Additionally, other potential modifier gene(s) may be uncovered.
This information is crucial to researchers at the University of Iowa attempting to understand the disease process of EDMD. Using this new information, Dr. Lori Walrath has investigated the upregulation of smad7, and its effects on fruit fly models of EDMD. Though the results are preliminary, Dr. Walrath has demonstrated reversal of skeletal muscle weakness with this genetic experiment. As Dr. Walrath seeks to secure funding for her invaluable research, the identification of an additional patient(s) with the nuclear lamin/smad7 gene mutation combination provides valuable clinical data to support her research.
As I have raised money to support EDMD research, I've been amazed at the incredible insights that may be uncovered when family and friends provide support. Small donations, when pooled together, provide so much benefit. I am forever thankful for the monetary donations already raised, and excited about this research for the future. Perhaps what can be gained by taking a closer look at our genetic blueprint can help a future child to not experience, or perhaps lessen the severity of EDMD. This is the ultimate goal for Salome and me.
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 !