A Couple Participating in The Boston Marathon is Helping to Raise Awareness for Gne-Myopathy

A couple (Mike and Christine) runners who will be participating in the Boston Marathon has graciously "adopted" me as partner/patient. One of my goals is to globally bring an understanding, and increase the awareness of Gne-Myopathy.  We are very fortunate, in addition to recent attention given to our disease, and now two runners will represent us in the Boston Marathon.   This event is coordinated with the National Organization for Rare Disorders.  
"On Monday, the Donabedians will be back on the Boston Marathon course, running for a different sort of healing. This time, they are running as part of the Running for Rare Diseases Marathon Team for the National Organization for Rare Disorders.

"This was an opportunity to get involved with something that really needs people stepping up and getting involved to help raise awareness," Mike said.

It was at the midpoint of the 2014 Boston Marathon that Mike noticed a group of supporters with signs encouraging members of the rare diseases team. So this time Christine and Mike are running for patient partner — Tara Voogel of California, who suffers from GNE Myopathy also known as Hereditary Inclusion Body Myopathy (HIBM). HIBM progressively weakens patients, and often strikes in the prime of life.

Christine said she talks with Voogel at least once each week, getting updates on Voogel's efforts to raise awareness and money for research and treatment for people with HIBM.

"She really provides an inspiration to me," Christine said."

Here is a link of  from The Columbian Newspaper on the Mike and Christine and their effort to help increase the awareness of Gne-Myopathy.
http://www.columbian.com/news/2015/apr/17/locals-make-motivated-return-to-boston-marathon/ 

Please share their web site, and donate if you can.
http://www.firstgiving.com/fundraiser/Donabedians/2015-running-for-rare-diseases-team



Not only they will run for Gne-Myopathy, the funds raised will be given to The National Institutes Of Health.

"All the funds raised for NORD through the Running for Rare Diseases Team will support the Genzyme/NORD NIH Undiagnosed Diseases Program (UDP). As many rare disease patients must endure a long odyssey before finally receiving an accurate diagnosis, the entire Running for Rare Diseases team is passionate about enabling early diagnosis for those living with mysterious, rare conditions.The new fund will pay for the medical testing for individuals who cannot afford the basic medical work-up needed to make them eligible to apply for the UDP. We are thrilled to be able to provide this patient assistance program to support patients who have exhausted all other avenues to seek a diagnosis!"



Thank you Mike, Christine, and NORD for this wonderful opportunity.
 Tara

Patient Day & GNE Myopathy Disease Monitoring Program Newsletter

     On April eleventh  Ultragenyx, a bio-pharmaceutical company held a celebration to honor families and patients with rare diseases.  This was their second year of holding this event.  There were about four hundred and fifty in attendance.  Ultragenyx is working on seven different drugs to help children as well as adults overcome their challenges with rare diseases.
      Ultragenyx offered travel scholarships for patients and their families to attend this event and organised transportation for patients to and from the venue.It was a beautiful sunny day in Novato, California where the event was held.  I attended this event with some of my family members and was impressed with the well-organized and smooth flow of such a large number of attendees.  We were warmly welcomed by the staff, who were very attentive to us and offered assistance to whoever needed it. There were vast amounts of delicious food served, as well a "dessert "truck."  There were many activities, especially for the children, such as game truck, face painting, and a bounce house.  I especially enjoyed listening to the band "Three Dog Night" as I danced in my chair to the captivating music.
     There were three other gne-myopathy patients present, and it is always intriguing to meet more patients as we have an unspoken bond. I was touched to see many young children with rare diseases in attendance.  It was very inspiring and refreshing for me to observe the young children with rare diseases. I feel hopeful that they will get effective treatment.
     Thank you Ultragenyx and your very talented staff for bringing rare disease patients and families together for this memorable event.
                                               Three Dog Night - Sweet Nostalgia

     Below is a link for the April Newsletter from the GNEM Disease Monitoring program.  This newsletter contains a story of another gne-myopathy patient, Colm Mohan, physical therapy tips, and information of the Phase Three trial of Sialic Acid.  Interestingly enough, it also states that over 150 patients have registered from various countries. There is a graph indicating the age of the participants and an overview of the answers they submitted on their functional activities and their areas of weakness. There is important information that researchers are finding out from the patients who are participating in this registry, which will help newly and yet-to-be diagnosed patients..
     Please click on the link to view this newsletter, and I urge those patients who have yet to register, to please do so.  Please feel free to send me a message if you need help.  I would be glad to help anyone who would need help with the registration.
Please email me at:  gne.myopathy@gmail.com

http://www.treat-nmd.eu/downloads/file/registries/GNE_HIBM/GNEM-DMP_Newsletter_April_2015.pdf