The Possible Relationship of Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary Exostoses
MHE is caused by mutations in EXT genes which are necessary for Heparan Sulfate Synthesis. The recent mouse study conducted by Dr. Y. Yamaguchi’s laboratory at Burnham Institute, La Jolla, CA (published in the November 7, 2003 issue of Science) has demonstrated the potential connection between Heparan Sulfate and nerve cell function. Since most MHE patients are cared and treated mainly for bone problems, neurological and other symptoms may have been overlooked. Therefore, Dr. Yamaguchi and his research team would like to know how many members of The MHE Coalition have neurological and other symptoms in order to obtain baseline information for further research.
Questions about many of these symptoms and their possible connection to MHE have been raised for years to the MHE Coalition and through the email support group. Now that these questions are being raised on a scientific level based on laboratory findings, we are very interested in supporting Dr. Yamaguchi’s work to see if there is indeed a link between MHE and these symptoms. For many years, MHE patients have tried to bring a variety of symptoms to their orthopedists’ attention, only to be brushed off and not have their complaints taken seriously. Due to the lack of scientific and medical research done on these issues, physicians had no knowledge of the possible connection of neurological and other symptoms to MHE in their patients. This was dramatically shown in the pain study done by Jacqueline Hecht and the MHE Coalition. Prior to this study, many physicians discounted the notion that MHE caused pain, based on prior medical literature. The study showed that pain in MHE has been under appreciated, and that it is an important aspect of MHE which must be addressed when caring for people with this condition. (Preliminary results of the study are available on our web site). Upon the publication of Dr. Hecht’s paper, patients and their physicians will have a scientific/medical resource of information about the association of MHE pain. That is why your participation is vitally needed! Even if you or your child has none of the symptoms listed on the following pages, it is imperative that you return the questionnaire. It is only by the participation of a large group of MHE patients that a statistical correlation of these symptoms can be made. Because of the size of our membership and because of our track record in working with researchers, The MHE Coalition is in the unique position of having researchers contact us for participants in their studies. Every individual who participates in this study not only helps provide the answers to these particular questions, but will also help strengthen our organization’s standing in the scientific community. Even if the issues raised here do not affect you and/or members of your family, please keep in mind that they do affect others with MHE and may affect future generations of your own family. Every single questionnaire counts! Please feel free to forward a copy of this questionnaire to any of your family members who have MHE. We are grateful to each and every one of you for taking the time to read, answer and return the attached questionnaire.
Your questionnaire will be submitted to the researcher under an ID Number, with no personal identifying information. However, depending on the initial results of the study, it may become necessary for us to contact some of the participants in this study so we require the following information, which will be kept strictly confidential and released only upon your consent. Please fill in and sign this form and send with the completed questionnaire to: Sarah Ziegler, National Director and Coordinator of Research, The MHE Coalition, 149-34 16th Road, Whitestone, NY 11357. If you have any questions, please call Sarah at 718-747-1701, cell phone: 917-841-2217, or email at dinosarah@prodigy.net.
Patient’s Name:_____________________________________________ Age: __________________
Name of Parent or Guardian: _________________________________________________________
Address: ___________________________________________________________________________
___________________________________________________________________________________
Telephone No.: ________________________ E-mail Address: ______________________________
_____________________________________________________
Signature of Patient
_____________________________________________________
(Signature of Parent/Guardian if Patient is a minor child)
Date:__________________________________ [For MHE Coalition Use Only: ID #__________ ]
Questionnaire Checklist:
o Please read “The Possible Relationship of Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary Exostoses.
o Please make a copy of the cover form and questionnaire for each member of your family with MHE.
o Please sign and date the cover form.
o Please answer the questions in the Questionnaire
o Please send the completed form and questionnaire to:
Sarah Ziegler
National Director and Coordinator of Research
The MHE Coalition
149-34 16th Road
Whitestone, NY 11357
If you have any questions regarding the study, you can contact Sarah at: 718-747-1701, Cell phone 917-841-2217, or email at dinosarah@prodigy.net
Thank you for your participation in this important study!
Questionnaire: The Possible Relationship of Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary Exostoses
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