It Runs in the Family

$5,435 of $740 goal

Raised by 120 people in 35 months
My name is Jill Viles, and I am seeking to raise $740 (the running total represents previous fundraising dating back to 2016) to facilitate genetic testing for a dear friend, Salome of Iceland.  (I am pictured at the far left of the photograph, and Salome is seated at the far right).  Salome and I had the pleasure of meeting at a research conference in Italy in April of 2017 and were amazed at the similarities of our conditions in terms of progression of muscle weakness, body build and surgical history.  We were both diagnosed with Emery-Dreifuss muscular dystrophy (EDMD) in early childhood, and we both represent a severe presentation of the disorder.  Our diagnosis was confirmed by mutations in the gene, nuclear lamin. 

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.
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Hello! This American Life is re-broadcasting my story this weekend (Jan. 13th). I am so thankful to my wonderful donors, and in case there are any newcomers to the site, I wanted to post an update. I was invited to speak at the 2nd annual conference on the laminopathies, a collaborative effort among Italian and French researchers. The conference will be held April 6-8, in Bologna Italy. A few months ago, I contacted my previous donors to see if they would be willing to let the funds raised be used to fund travel expenses for me to attend this conference with my husband (I need his help to travel abroad). and I did not receive objections. I am excited to attend as they will be presenting about potential pharmaceuticals that may be available in the future. I wanted to make sure if there were any new donors that they were aware of this update and that this is acceptable. If more funds are donated than needed for my travel, I am happy to donate the excess to another person with EDMD that wants to travel to the conference, but needs assistance in paying for airline ticket for themself and/or a required travel companion. Thank you all so much for all you've done for me and for my family. I hope to find answers to help my two year old nephew who is asymptomatic, but did test positive for this mutation. Thank you for caring so much!!!
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Hello donors to my "Go Fund Me" page,

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.
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Read a Previous Update
Sharon Obenland
25 months ago

I trust your judgment to use the funds as you deem necessary. Thank you for what you are doing.

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Chris Theiler Driscoll
25 months ago

I think this would be a wonderful use of the funds. Safe travels

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Lissa Poincenot
35 months ago

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!

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Kathy Sorensen
35 months ago

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 !

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$5,435 of $740 goal

Raised by 120 people in 35 months
Created January 12, 2016
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SK
$35
Salome Kristjansdottir
21 days ago

I think it's very important that we encourage research into EDMD!

$35
Jill Viles
21 days ago

I am happy to donate because I appreciate all that Salome has done to make our Facebook group so successful!

AS
$15
Arild S
5 months ago

Keep doing what you're doing. You're an inspiration!

MV
$40
M Velasquez
5 months ago

I don't know how I ended up reading your David Epstein's article about you and your journey but I am glad I found it.

NS
$25
Nicole Selinger
16 months ago

Go Jill go!

$100
Anonymous
17 months ago
$25
Anonymous
21 months ago
JH
$100
Julie Hou
22 months ago

I was very inspired by your story and wanted to share my admiration for your persistence in all the adversity you have faced. Particularly, I am a medical provider, and I hope that more providers hear your story especially given the way you were dismissed initially. I believe that as doctors we are more guides for our patients and our patients know their bodies the best for your are the ones who live in your skin day in and day out. While we have an obligation to guide our patients appropriately, dismissiveness and paternalism no longer has any place in modern medicine. You have the true spirit of a scientist, your insights are remarkable. I hope you keep pursuing your hunches and curiosities as there are some things we are born with that can never be taught, and I believe you have an unique mind that will lead us to remarkable advances. I hope you do also engage in sharing your story particularly with medical students so that they may remember it when they become medical providers.

Sharon Obenland
25 months ago

I trust your judgment to use the funds as you deem necessary. Thank you for what you are doing.

+ Read More
Chris Theiler Driscoll
25 months ago

I think this would be a wonderful use of the funds. Safe travels

+ Read More
Lissa Poincenot
35 months ago

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!

+ Read More
Kathy Sorensen
35 months ago

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 !

+ Read More
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