Update from The MHE Coalition Susan Wynn

It seems that in every issue of our newsletter we try to stress the importance of every one of you participating in whatever way you can. We rely on donations, information, and participation, and as we say, again and again, each of you can make a difference.  Just this week the impact of one person’s voice (and one person’s silence) was evident in my town, where our school budget was defeated by only 15 votes.  The school budget vote was discussed in one of my daughter’s classes, where it was discovered that approximately half of the parents of students in that class did not vote!  They left the voting to other people, the budget was defeated, and all of our children will now pay the price.   Why bring up a school budget vote in an MHE Coalition newsletter?  Because it demonstrates better than anything I can say the consequences of not taking action.  Leaving to someone else the work of voting or, in our case, of answering a questionnaire or making a donation means that all of our children may pay the price. We are very, very excited to announce that the pain study, “Hereditary Multiple Exostosis and Pain” has been published in the Journal of Pediatric Orthopaedics.  This is a major step forward in changing attitudes among many in the medical profession.  It validates all of you who suffer from un-treated or under-treated pain resulting from MHE (including its complication and its treatment), and gives you a tool to present to your doctors:  a scientific study confirming that pain has been underestimated and that pain issues need to be addressed in the course of treatment.  The MHE Coalition is proud to be mentioned throughout the article.  However, the number of people who responded compared to the number of people who received the questionnaire truly demonstrates the power of each voice, and importance of letting yours be heard. Please see the background information in our article, which features an abstract of the paper.  Since starting this organization, we have heard from so many of you about how much you would like the opportunity to meet with the doctors and scientists involved in treating and/or researching MHE.   You will all have the opportunity to do just this at the Second International MHE Conference in Houston.  On Saturday, November 5th, a workshop will be held for MHE patients and families, with presentations on relevant topics by several experts in their fields.  Following the workshop, there will be an informal reception where you can meet with the presenters and many other scientists and clinicians from the conference, who are also looking forward to meeting you and learning more about what it means to live with MHE.  We hope that many of you will make the trip to Houston and take advantage of this rare opportunity to finally make your voices heard!    Dr. Yu Yamaguchi, who is in the process of analyzing the data that many of you supplied in his Questionnaire Study, “The Possible Relationship of Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary Exostoses,” has asked us to relay a message to the members of The MHE Coalition:  “I appreciate the response that we received from members of The MHE Coalition to our questionnaire study.  We are currently analyzing the neurological symptoms of our nervous system-specific EXT1 knockout mice in conjunction with the information from the questionnaire.   I look forward to having the opportunity to meet with you at the November meeting.   There is much I would like to learn about MHE, and can be best learned from families living with this disease.” Our book, “The ABC’s of MHE: Everything you need to know about Multiple Hereditary Exostoses – A resource for MHE patients, their families, and their health care providers,” continues to grow.  We are grateful to Wim Wuyts, Ph.D. (The Genetics of Multiple Hereditary Exostoses – A Simplified Explanation) and Dror Paley, MD (Multiple Exostoses of the Forearm) for sharing their expertise with us and providing these two new chapters for the book (available on The MHE Coalition Website, www.mhecoalition.com).  Information on genetic testing and the laboratories currently performing these tests will also be available on our website. Other members of our Advisory Board and doctors and scientists who will be attending the Second International MHE Conference in Houston continue to demonstrate their dedication to finding out more about the causes, effects, and treatments of this disorder.  The publication of these works in medical and scientific journals continues to educate their peers and stimulates interest in MHE, and we deeply appreciate their commitment. We are also grateful to all of you who support The MHE Coalition with your donations and with fundraising efforts.  We have gone from a “kitchen table” operation, begging for stamps so that we could mail out our newsletters, to a non-profit organization, able to provide financial support to some of the research efforts now taking place.  We partially funded the Pain Study, and were able to provide a grant to Yu Yamaguchi for some equipment that was needed for his study on Heparan Sulfate and Nerve Cell Function.  The MHE Coalition has also committed to providing a large portion of the funds needed for the Second Annual MHE Conference.  As more Coalition members find ways to raise money for MHE research, we become more able to offer financial assistance to some of the MHE researchers who are now facing grant cuts.  We thank each and every one of you who donates to our organization, and we thank those of you who spend so much of your time and efforts to hold fundraisers.  Read about Jim Spier’s “Ski for MHE” and 6-year-old Justin, who designed and sold “Cards from the Heart.”  Suzanne Caputo and David Brooks are co-chairing their Fourth Annual MHE Golf Outing to be held in New Jersey in September.  They have done a remarkable job, and we don’t know where we would be without them!  Kristie Williams and friends Jimmy and Roberta McArthur are holding their third Square Dance in Missouri.  Suzy and Craig Eaton are working with Sarah Ziegler on Funtasia: A Research Banquet to be held in Coney Island, New York, also in September.  This promises to be a very successful event, and we are very pleased to announce that at the Banquet, the first MHE Coalition Humanitarian Scientific Achievement Award will be presented to a researcher who has given years of dedication and commitment to the understanding of MHE.  Our December newsletter and our website will provide updates on all upcoming events – the conference, the fundraisers, the recipient of the Humanitarian Scientific Achievement Award, and more!  Please take a few minutes to read this newsletter.  It represents the hard work of many who give of their time in order to share important information with each of you. Please consider making a donation, going to a fundraising event or contributing to one of the events by donating items for auctions.  As more and more researchers become interested in MHE, we will ask for your participation more often!  I hope that as an organization we can learn that apathy has consequences, and even if they do not affect your household, they do affect many, many others. We hope that many of you will make every effort to come to Houston in November!  If you are planning on attending, please fill out the attached registration form and send it in as soon as possible. Registration forms and conference information will be posted on our website. So many of our members have had or are scheduled to have surgery.  We wish all of them successful surgeries, and fast and complete recoveries.  A special get well message goes to our incredibly hard-working president, Chele Zelina, who will be having hand surgery on June 6. Chele, maybe now you’ll actually take a little break!  Our thoughts and best wishes will be with you!