News and Events
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
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.
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:
International Rare Disease Day 2014
This years theme for Rare Disease Day is Care, with the slogan "Join Together for Better Care".
Caring for our loved ones comes in many forms. Some patients have access to therapies and some do not. Some patients are independent and others require very complex care. For most children and adults living with a rare disease the primary care is provided by family members and because of the complex care some families are very isolated.
Rare Disease Day 2014 focuses on Care and encourages everyone in the rare disease community to Join together for Better Care.
We encourage all families within the ISMRD network to get involved and help us raise awareness of our very rare diseases. Let’s break the isolation that many of us suffer from and let our communities know about our very special children.
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 firstname.lastname@example.org.
Older newsletters can be found here.
October 2014 (PDF)
In this issue: In this edition: ISMRD conference and fundraisers,Diagnosis Rare Disease book by Denise Crompton, Artwork and photo competitions, Orphan Drugs: Prevalence and Price.
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.