News and Events
International Rare Disease Day 2016
International Rare Disease Day is just around the corner. This year will mark the ninth year that the international rare disease community celebrates Rare Disease Day.
Theme: Patient Voice
Slogan: Join us in making the voice of rare diseases heard.
On February 29, 2016, people living with or affected by a rare disease, patient organizations, politicians, caregivers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.
The Rare Disease Day 2016 theme ‘Patient Voice’ recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.
The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.
We have created our new flyers for this year with emphasis on our virtual morning tea. Its as simple as asking people to donate the cost of their morning tea to ISMRD.
Author of Diagnosis: Rare Disease does Radio Interview
Denise Crompton, author of Diagnosis: Rare Disease, have given an interview to raise awareness and to highlight some of the issues families living with rare diseases have to deal with on a day to day basis.
Diagosis: Rare DiseaseDestined to be a classic ....... The sequel to Kelley's Journey is now available as an E-book and about to be released in hard copy.
In Diagnosis: Rare Disease Denise Crompton offers a compelling look at 13 families who received the diagnosis no parent ever wants to hear. This gripping book provided a heartbreaking expose of what life is like for families that have a member with a rare disease.
Denise details the journey of each family including her own, who has one or more children with a rare disease called Mucolipidosis.
Within 24 hours of being released in September 2014, Denise's book hit the #1 spot for paid bookes in the Genetics category of Amazon. This is a must read. You can per-order your copy here.
What people are saying:
"This book gives a heartbreaking exposé of what life is like for families that have a member with a rare disease," explains Carolyn Paisley-Dew, ISMRD Board Member. "It follows the journey of 13 families who have one or more children with a rare disease called Mucolipidosis, as they wade through the erratic diagnosis process, medical muck-ups, endless pain, a plethora of medical appliances and home modifications, special education, multiple hospitalizations and surgeries, unrelenting stress and the ever-present fear of death.
“The book highlights how stoic, resilient, strong and resourceful these families are, and how heartless, or thoughtless, some medical professionals can be. It underlines the importance of networks to allow these isolated families to support each other and to give them a sense of belonging.”
“Regarding the topic of Diagnosis: Rare Disease, Denise Crompton amply demonstrates two of her important assets: one is the personal experience with ML III in her own daughter and two, her manifest ability to widen the subject and to bring a streamlined report on a number of other patients and families with either ML II or ML III. The book is to become a classic in the still little known world of very rare or orphan hereditary disorders.” Prof. JG Leroy MD. PhD
Kelly's Journey - Facing a Rare Disease with Courage
Denise Crompton is the author of this book. Her daughter Kelley was affected by Mucolipidosis type III. The book is about the family’s journey of living with ML III and how they managed the very complex issues.
You can purchase Kelley’s Journey at Amazon.
The new revised and expanded version of Kelley’s Journey, including her final years and will be available on-line as an e-book on:
ISMRD and National MPS Society join together to support ML Research
In 2013 ISMRD and the National MPS Society offered a Partnership Grant for mucolipidosis II/III. The grant is $20,000 for each year of the two years. Following a global request for proposals which were reviewed by a committee comprised of members from our respective Scientific Advisory Committees, the grant was awarded December 2013 to Dr. Heather Flanagan-Steet at the Complex Carbohydrate Research Center at the University of Georgia. We are grateful to the National MPS Society for their work with ISMRD, ensuring the success of this endeavor.
Below is the abstract from the project that was accepted for funding.
“Investigating the role of cathepsin proteases in ML-II cardiac pathology”
Heart valve defects represent a life threatening but poorly understood symptom of ML disease. Recent work in our ML-II zebrafish model has provided new information on why the valves don’t form or function properly. Our earlier work on cartilage defects in this model identified the enzyme, cathepsin K, as a central player in the disease process. Inhibition of cathepsin K in the ML-II background resulted in improved cartilage development, suggesting a new therapeutic strategy for ML disease. Since the development of heart valves and cartilage share many common features, it is likely that cathepsin K also contributes to ML heart valve disease. We propose to use inhibitors of cathepsin K (and another related enzyme cathepsin L) to ask whether they reverse the heart valve defects present in ML-II zebrafish. At least one cathepsin K inhibitor, odanacatib, recently passed Phase III clinical trials for the treatment of osteoporosis and is expected to be available in 2014. Our proposed work may uncover a new opportunity to treat ML valve disease with these inhibitors.
ISMRD publishes a electronic newsletter called Pathways that has interesting articles and colorful illustrations about ISMRD’s activities, as well as information about Glycoprotein Storage Diseases.
If you would like to download a copy in Adobe Acobat format, please feel free to sample it right on your home computer.
If you have changed your e-mail address or you would like to be added to the e-mail list please contact us at email@example.com.
Older newsletters can be found here.
ISMRD has been fortunate to achieve a few notable milestones through the hard work and dedication of the members of our Board of Directors, past and present; an empathetic and sincere group of scientists and medical professionals and a concerned and proactive group of families from many different countries. Without the three groups working as a team, ISMRD would not be in its present position of being the world's most prominent advocate for Glycoprotein Storage Diseases.
Among our most significant achievements have been the following listed below. To learn more please follow the links to a more detailed account about the highlights of each.
- The 1st International Scientific and Family Conference on Glycoprotein Storage Diseases held in Washington 1–4 April 2004.
- Crossing Oceans for a Cure workshop and walk–run fundraiser held in Ann Arbor, Michigan 22–23 April 2005.
- The 2nd International Conference on Glycoprotein Storage Diseases held in Michigan 24–27 July 2007
- The 3rd International Conference on Glycoprotein Storage Diseases held in Charleston, South Carolina 28–29th July 2012. We also held two Natural History Study Clinics either side of this meeting.
- The 4th Glycoproteinoses International Conference – Advances in Pathogenesis and Therapy – held in St. Louis, 23–26 July 2015