This is a forum for GNE Myopathy where I discuss the challenges and insights I encounter on my journey in living with a progressively "weakening" disease. GNE Myopathy is also known as Hereditary Inclusion Body Myopathy (HIBM). I will invite others to share their stories, tips, and comments. I will discuss potential treatments, clinical trials, current research, and resources available for patients with GNE Myopathy.
tara
LA Mayor's Office Acknowledges the NDF's Advocacy with GNEM
The bio-pharmaceutical company Ultragenyx will celebrate Patient Day with patients and families of rare diseases. This is our chance to meet and celebrate our "rareness" with others.The deadline for travel scholarship was March 14th, however you may want to try to register and see what happens. Please refer to the link below for additional information. This would be another opportunity for gne-myopathy patients to get to know each other.
ULTRAGENYX PATIENT DAY 2015
When: Saturday, April 11, 2015 from 11:00 AM - 3:00 PM PDT
Where: Ultragenyx Pharmaceutical Inc. Headquarters
60 Leveroni Court, Novato, CA 94949
Ultragenyx Patient Day is held to honor patients with rare diseases. Please join us for a fun-filled day of food, games, refreshments, live music and much more. Kids are welcome to attend!
*Bounce House *Face Paint *Tattoos *Video Game Truck
Agenda
11:30 AM - Buffet Opens
12:30 PM - 1:30 PM - Presentations on Stage
1:30 PM - 3:00 PM - Entertainment including live music
Travel Scholarship Information
A limited number of travel scholarships will be given. Requirements are as follows:
Be a patient, or
Be a family member, or
Involved in a patient organization
Please click on the registration link below to be considered for a travel scholarship. Rx Worldwide Meetings, Inc. is the designated meeting planner for this event and will be assisting you with any special requirements, as well as hotel accomodations and transportation. Rx Worldwide Meetings will send travel requests to Ultragenyx for scholarship selections. The Deadline for scholarship consideration is March 14th, 2015. For any questions, please contact ultragenyxpatientday@rx-worldwide.com or patientday@ultragenyx.com.
I was very fortunate to be able to attend a Rare Disease Day Symposium at the Sanford Burnham Research Institute in La Jolla, California. This campus is located in a coastal area, and the views were quite stunning. I wish more of us could have been able to attend.
This symposium was entitled "Treating Disease with Sugars," a befitting title especially related to GNE-myopathy. Mr. T. Denny Sanford, an Honorary trustee of Sanford Burnham reminded the participants that we were there to get a good basic presentation of the many important research projects going on in rare disease. The structure of this symposium was very unique as it brought together faculty, students, scientists, doctors, patients, and families. We are all stakeholders in finding cures through presenting and questioning ongoing research. By listening and collaborating with both patients as well as scientists, we will be bring effective therapies sooner to the patients.
There were at least seven GNE-myopathy patients, including myself in attendance at the symposium, This is the first time I have seen so many of us in one room at the same time. A major part of the symposium was dedicated to research on GNE-myopathy. Dr. J. Bartfeld began the symposium with her presentation, "Letting Go While Holding On" Dr. Bartfeld is a GNE-myopathy patient and her presentation brought me to tears as I saw in her a younger me who had experienced the profound pain, of not being able to participate in my children's physical activities at school, home, or with their playmates. It is a fundamental purpose for parents to be able to be join with their young children's activities.
NOTE: *I have posted the link to the video presentations at the end of this discussion, except for Dr. Malicdan which is not available as of this posting.
Many noted researchers attended the symposium. Drs. Carrillo-Carrasco and May C. Malicdan from the National Institutes of Health presented research on various forms of ManNac tested on mice, and also discussed their recruiting of patients for the soon-to -start ManNac trial. Here is the link. https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2
Dr. E. Conner from Ultragenyx explained the results of the Sialic Acid Phase Two trial. Kim Mooney, Associate Director of patient advocacy from Ultragenyx was very attentive and helpful to our patient group. Ultragenyx hopes to start Sialic Acid Phase Three trial soon. They will be recruiting additional patients to the patients currently in the extended Phase Two trial. Please refer to this link and check the site regularly for updated information on recruitment. https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3
I understand that most GNE-myopathy patients will want to view only the videos on our disease; however, if time permits, please take a look at Dr. Freeze's presentation. I found it quite riveting and fascinating. I loved the visuals he provided and his way of presenting research. I learned some new facts.
The "Doctor-is in" sessions were very helpful, and we got to meet with the researchers and could ask them as many questions as we wanted. This was a very important and valuable part of the symposium as I was able to get my questions answered. I believe other patients were also pleased with this part of the program.
As patients we need to continue to tell all who will listen about Gne-myopathy. Particularly,we must promote increased awareness, find undiagnosed patients, and assist them to sign up on the registry. I know that some of us may think this is not important because it offers no treatment. I understand, however we need to weigh not participating versus the reward. I think the reward will be greater because this will help the researchers see more clearly related patterns, and variables in our disease. In the end it will help others to get a more accurate diagnosis.
Please register using this link. Please feel free to let me know if you need help. https://clinicaltrials.gov/ct2/show/NCT01784679?term=gne+myopathy&rank=5
I want to express my utmost appreciation to all the presenters, the organizers, the patients, and Amy Zimmon (Sanford Burnham). Amy graciously arranged an accessible shuttle for us, made sure we were well fed, and even picked some of us up from our hotels. This event was well organized, and my hope is that we will continue to have programs like The Road To The Cure "SWEET". I am encouraged and full of hope since we have so many talented persons on our side who are working on GNE myopathy.
**This is concurrently posted on gne-myopathy.org web site, (A site organized by patients and family internationally as well as in the U.S.A.) http://gne-myopathy.org/
Addendum Here is coverage done by the San Diego Tribune of the Rare Disease Symposium
For patients with extremely rare or undiagnosed diseases, visits to the doctor may offer more frustration than hope. Modern medicine is devoted to treating common maladies, not rare illnesses a doctor may never have encountered or even heard of.
A group of these patients from as far away as Italy gathered recently at the annual Rare Disease Day Symposium held at Sanford-Burnham Medical Research Institute. The patients, or their parents, hear about the latest research and get a chance to talk directly with researchers and physicians who specialize in rare diseases.
The researchers and physicians talk with the patients as equals, each contributing their own knowledge and perspective. And while the talk gets into rarefied scientific territory, it's brought back to earth by something as simple as a child throwing a ball in a researcher's direction.
This year's symposium focused on diseases of metabolizing sugars. Sugars, also called glycans, play numerous roles throughout the body. They enable immune system to distinguish self from invading pathogens, produce strong muscles, digest food, even to see. Defects in sugar metabolism, or glycosylation, are involved in Alzheimer's disease. Glucosamine, a popular nutritional supplement, is a sugar.
Tara Voogel is an expert in one of these diseases, GNE myopathy, which causes a progressive wasting away of muscles. She has no formal education in GNE myopathy. But as a patient with a disease very few health care professionals are familiar with, she understands its effects as few others can. And she's reading and learning all she can to find help.
Hope for patients like Voogel, who relies on a wheelchair for mobility, comes from research.
Spreading the word on GNE myopathy
Her own condition is tough enough, but to watch her siblings struggle with the disease is even harder, Voogel said.
"I've seen the whole spectrum from my eldest sister to my younger brother, and because of that, I have to do what it takes," Voogel said, choking up.
But more research is needed, and with the National Institutes of Health operating with a stagnant budget, funding that research is difficult. Moreover, few people know of the vital role sugars play, which makes getting attention difficult.
"My background is in nutrition, but we never learned about these sugars," Voogel said in a meeting with her GNE peers and researchers. "All we learned about was the calories."
Even expert doctors don't get educated in the role of glycans in biology, said glycobiologist Gerald "Jerry" Hart of Johns Hopkins University.
"People are educated about DNA and proteins and nucleic acids practically in grade school," Hart said. "There is no education even in graduate school and in medical school, of the importance of these sugars in biology. The field of glycobiology has grown immensely. I teach medical students, and I tell them, every disease that affects mankind directly involves glycans."
Please click on the link to read the whole story. http://www.utsandiego.com/news/2015/mar/08/sanford-burnham-rare-disease/
