We Now Need Your Help: A Letter to our Members from Sarah Ziegler
A website, developed by the Burnham Institute and Dr. Freeze, gives all those interested in this research a chance to take a firsthand look at what took place during the December conference. The Web Site address is: www.burnham.org/presentations/human_glycosylation_disorders/index.htm. I highly encourage everyone to visit this website. If you don’t have Quick Player on your computer, you will need to download it (a link is available on the web page) in order to view and hear the slide show presentations given on December 3, 2003. The Presentation Link may take a long while to load on your computer, so you may want to leave your computer and return later to view the slide show. I can assure you this is well worth your time. During Dr. Esko’s presentation, “A Murine Model for Hereditary Multiple Exostosis (HME)” you will both hear and see some of the progress he and his laboratory have made in researching MHE, with the participation of the MHE Coalition.
During the conference, I had the opportunity to have several meetings with both Dr. Esko and Dr.Yamaguchi and visit both their labs. During these meetings, we spoke about the progress made so far, the challenges that lie ahead, and the ways we can meet these challenges. We also discussed the range of possible symptoms that may be associated with MHE and how The MHE Coalition can best help the scientific community in their preliminary investigations. Researchers need to know all the possible symptoms of this disease; and how often the symptoms appear in the population of subjects they are studying. We, as a group of people suffering from this disease, are the ONLY PEOPLE that can provide the information that researchers need to help develop new research projects and expand on the research being conducted now. This will ultimately bring research forward.
Dr. Yamaguchi and the MHE Coalition have developed a questionnaire to help provide insight into some neurological and psychological symptoms that may be associated with MHE as a result of the possible impact of heparan sulfate deficiency on nerve cell function. As National Director of Research, I will be individually e-mailing this questionnaire and following up with a telephone call to each member for whom the MHE Coalition has the correct contact information.
The data collected in this study will be analyzed in various ways, with one of the goals being to identify the possible symptoms and statistical rates that these symptoms occur in people with MHE. Once the symptoms and statistical rates have been analyzed, new research projects will be developed. One of the tools researchers are now using are mouse models developed in both Dr. Esko’s and Dr. Yamaguchi’s laboratories. Mouse models are very important, as illustrated in Dr. Esko's presentation. Using mouse models helps researchers identify the biological pathways needed in understanding this disease, and in the future compounds could be developed and tested on these mouse models, a very important step in developing a treatment for MHE.
Statistical Rates and their Importance: Example: A researcher conducts a study that has 10 subjects and one subject identifies fatigue as a symptom. The statistical rate for fatigue would be 10%. If the same study is conducted using 100 subjects, and one of the subjects identifies fatigue as a symptom, the statistical rate for fatigue would then be 1%. This example shows how important it is to have as many responses to this questionnaire as possible.
The Numbers Matter! The symptoms you are – or are not - experiencing matter! Responding to this questionnaire matters. Researchers need to see a true picture of what they are facing in order to solve this very complex disease. This can only be accomplished with a large return rate of the questionnaire! The number of questionnaires returned definitely matters!
You could look at it this way: The idea behind the TV game show, “Wheel of Fortune,” is for the contestants to figure out the phrase before them. The contestants are the researchers, and we are Vanna White, turning the letters of the puzzle over for the researchers to figure out the phrase. That phrase is “MULTIPLE HEREDITARY EXOSTOSES!” Each time a contestant (or researcher) makes a correct guess, the closer they are to figuring out the puzzle.
Jigsaw Puzzle Pieces come in many forms:
Multiple Hereditary Exostoses research is like trying to put together a huge jigsaw puzzle, but without having all the pieces. As the people living with MHE, we need to help give the Researchers some of puzzle pieces they are missing. Only then will we begin to get the answers we need. Clinical research papers written about MHE will help educate doctors treating people with MHE, and The MHE Coalition will then have clinical information to educate the people living with MHE. This will also continue the groundwork of information needed by researchers to find a treatment for MHE.
Any of the following will help complete the puzzle: Answering and returning questionnaire studies when asked; becoming a member of the National MHE Registry; donating exostoses of people who are having surgery; making financial donations and/or participating in active fundraising so that the MHE Coalition can help fund the MHE Conference being held in Houston in Nov 2005, as well as helping fund new research projects; sharing information about MHE and your experiences thru e-mail postings; completing requested Bio Information; and reading Newsletters and literature. Jigsaw puzzle pieces come in many shapes, sizes and subjects and all are equally important.
Our dream for many years has been to find a treatment for this disease. We can see for the very first time a light at the end of a long, dark tunnel. We have an obligation to our children and the generations to come to do everything we can to make sure they do not have to live with the pain and suffering endured by so many of us and the people we love. Let our pain and frustration unite us and serve as fuel in the commitment needed to find the answers we are looking for.
The “Wheel of Fortune” is in your hands, and our dream can only be accomplished by giving the researchers the pieces of the puzzle they are in desperate need of. Having worked with many of these researchers, I know that they are united with us in trying to accomplish our goal, our dream of finding a treatment for MHE. It is going to take many people to make this dream come true, and until it does, we will keep looking for answers, keep trying to gather the MHE community together to provide the information that researchers need, so that one day all the pieces needed to put this puzzle together will be there. Please complete it and return the questionnaire to me, and know you are making a difference for future generations!
Thanks,
Sarah Ziegler
