Loose Connections, February 1998 by Mark Martino

Loose Connections Vol. XIII, Number 1 The Official Communications Link Of The Ehlers–Danlos National Foundation 6399 Wilshire Blvd. Suite 510 Los Angeles, California 90048

February, 1998 (213) 651–3038

The Revised Ehlers–Danlos Syndrome Nosology Compiled By Darlene A. Clarke, R.N., M.S.N., Karen Skrocki Czerpak, R.N. & Linda Neumann–Potash, R.N., M.N. Editors Note: As many of you are aware, the EDS Nosology paper is still “in press” with the American Journal of Medical Genetics and has not been published to date. Therefore, the EDNF has not been able to provide complete information on the revised Nosology. In an attempt to update our members as much as possible at this time, the Editors of Loose Connections decided to print the Foundation’s two new EDS brochures as the lead article for this issue. The following brochures were revised in January of 1998 to reflect the revised Nosolgy. Please know that as soon as the EDS New Nosology article is published, the Foundation will request permission from the publisher to reprint the article for our members.

In This Issue... The Revised Ehlers–Danlos Syndrome Nosology ........................... 1 Notes From Nancy .............................. 2 EDNF’S Comic Connection with Harvey Korman .......................... 2 The Chair’s Connection ...................... 3 The Executive Element ....................... 4 Branch News ................................ 5 & 6 Wish List ............................................. 7 A Very Special Thank You .................. 7 Manuscript Guidelines ....................... 7 Eighth National Learning Conference ........................ 10 EDS In NIH Research Project .......... 10 Letters To The Editor ........................ 11 Memorials and Honorariums ............ 12 Donations .......................................... 12 Non-Bowl, Bowl–A–Thon ............... 13 Back Issues ....................................... 14 Membership Form ............................ 15

The Facts About Ehlers–Danlos Syndrome Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a “glue” in the body, adding strength and elasticity to connective tissue.

Symptoms Clinical manifestations of EDS are most often skin and joint related and may include: Skin: soft velvet–like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid

pseudotumors (fleshy lesions associated with scars over pressure areas). Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis. Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.

Prevalence At this time, research statistics of EDS show the prevalence as 1 in 5,000 to 1 in 10,000. It is known to affect both males and females of all racial and ethnic backgrounds.

Hereditary Patterns The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found in another EDNF informational brochure. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. Continued Continued on on page page8.8

Views expressed herein are only those of the authors, and should not be construed to represent the opinions or policies of the Ehlers–Danlos National Foundation and it’s elected officials.

L oose Connections Published Quarterly By The

Ehlers–Danlos National Foundation — Founder — Nancy Hanna Rogowski 1958 – 1995

Executive Director Linda Neumann–Potash, R.N., M.N.

President Nancy Regas, R.N., M.S., M.F.C.C.

Vice President Karen Skrocki Czerpak, R. N.

VP for Patient Advocacy Susan Stephenson, R.N., B.S.N., C.C.R.N.

Secretary Maggie Buckley

Treasurer Harold Goldstein

Board of Directors Darlene A. Clarke, R.N., M.S.N., Chair Maggie Buckley Karen Skrocki Czerpak, R.N. Harold Goldstein Nancy Regas, R.N., M.S., M.F.C.C.

Medical Advisory Board Petros Tsipouras, M.D., Chair Patrick Agnew, D.P.M. Robin Bennett, M.S. William Cole, M.D. Mark Evans, M.D. Richard Wenstrup, M.D.

Medical Consultants Pat Aulicino, M.D. Peter Beighton, M.D., Ph.D. Peter Byers, M.D. Sheldon Pinnell, M.D. F. Michael Pope, M.D. Catherine A. Stolle, Ph.D. Alan Weinberger, M.D.

Editors Darlene A. Clarke, R.N., M.S.N. Karen Skrocki Czerpak, R.N. Linda Neumann–Potash, R.N., M.N.

Publisher

S ’ F it h N w D n E nnect io n o a C c m i r m o Co K y e v r a H The EDNF’s first major fundraising event, “Comic Connections” with Harvey Korman and Yarmy’s Army is really taking shape. The event will be held on Sunday, June 14, 1998 at the Olympic Collection in Los Angeles, California. This black tie comedy night will feature Harvey Korman and many other well known comedians. The cost of each ticket to attend this star studded event is $200.00 per person. The Honorary Committee for this event is forming with Harvey Korman as the Chair. The following individuals have agreed to serve

on the Honorary Committee, notably, Mel Brooks, Carol Burnett, Tim Conway, Ted Danson, Budd Friedman, Norman Greenbaum, Buz Kohan, Tommy Lasorda, Hal Linden, Peter Marshall, Tom Poston, Vin Scully, Steve Soboroff, Alan Thicke, Saul Turteltaub and Dick Van Patten. This event has been a dream of the EDNF Board of Directors for many years. It almost seems unbelievable that it is really going to happen. But thanks to the generosity and compassion of Harvey Korman, this is soon to be a reality.

Notes From Nancy Nancy L. Regas, RN, MS, MFCC — President, EDNF A new year has begun and we are one step closer to the turn of the century. A constant that transcends these milestones is hope. Webster’s Collegiate Dictionary says that hope is to expect with desire. It is the belief that there is something better, something to reach for, dreams can and will come true; finally, it puts definition into our lives. Without hope, there is no living, there is only existing. There isn’t a single person that can say their lives are perfect. In our human struggles, we cling to the belief that things and people can change and grow. In our growth comes fulfillment and the attainment of goals. Without hope, why should we reach for the stars, why should we try? I saw a tremendous story on a news program about a three year old girl who needed a five organ transplant. They asked the mother, How can you go on? The mother’s reply was simple, How can I not? Look at the smile on her face. She doesn’t even know how sick she is, she just loves life. They traveled the country and eventually got the transplants. They met a five year girl who had had the same surgery, which was successful. She told the reporter, “This is a lucky world. I wouldn’t be alive without the operation.” It was so clear and so simple for her; children just know and unquestionably believe. When the five year old visited her new friend in the hospital after surgery, the nurses told the little girl to open her eyes to see her guest. With tubes everywhere, attached to everything, she shook her head no. The five year old spoke, “That’s okay, you don’t have

to” [such wisdom]; “do you want your mommy?” [she knew what really mattered] The patient nodded. The five year old marched down the hall of the Intensive Care Unit and said, she wants her mommy. She found the mother and pulled her into the room. As I watched the story, tears streamed down my face because the hope was so powerful it traveled across the air waves; it will and can defeat any trial or tribulation. In both cases, the parents believed and gave their children hope, and the children gave hope right back. It is contagious. So if there is any new year’s resolution you make, promise yourself to never give up hope and to live for the wonderful bounty in life. I have personally learned, time and time again, there is no substitute and there is nothing better. Maybe it’s time to recall the words to our song; they were written to provide hope and to serve as a reminder of that hope: We are searching for tomorrow, but we’re blinded by today, The winds of fear may blow us down, but the dreams and hope remain. Just open up your hearts and minds, you never know what you might find; Together we will find a way, And help to make tomorrow, A Brighter Day With Hope, Nancy

Keith G. Clarke February, 1998 Ehlers–Danlos National Foundation — Page 2

The Chair’s Connection Darlene A. Clarke, R.N., M.S.N., Chair, Board of Directors I have been asked repeatedly by friends, family and members of the Northeast Ohio Branch the following questions: “What is alternative medicine?” “Can it help someone with EDS?” As a product of “Traditional Western Medicine”, I knew that I did not have the answer to either question. Therefore, I decided to answer the first question in an attempt to educate myself as well as other EDNF members. Before I proceed, I must stipulate that neither the EDNF, the EDNF medical advisory board, nor myself personally advocates using alternative medicine in place of traditional medicine to manage EDS. Alternative medicine used in conjunction with traditional/conventional medicine may prove beneficial in helping to manage your EDS. This is an informed decision for you and your current physician to make. So, what is alternative complementary medicine? Alternative complementary medicine is known as a holistic approach to medicine. This means that physicians approach disease and illness by simultaneously focusing on the “whole” person (body, mind and soul). Alternative complementary medicine includes treatments that are non-traumatic to the body - some of which have been documented in many cultures for more than 2,000 years. The goals of alternative complementary medicine are to manage, cure (when possible), or reduce the pain and severity of disease conditions. These goals are accomplished by protecting, promoting, or modifying normal body functioning without the use of drugs which are considered “xenobi-otic” or foreign to the human body. A new trend is slowly emerging in medicine today. Some physicians who can prescribe medications (M.D.’s and D.O.’s) are gradually supplementing their traditional medical practice with alternative complementary options to provide optimum patient health care and treatments. It is estimated that over 200 alternative therapies are currently being used in the U.S. today. It is important to keep in mind that what we Americans and Western medicine practitioners identify as alternative medicine is literally traditional medicine for almost 80% of the world. That doesn’t make one form of medicine right or wrong - although, it is worth investigating all of your healthcare options whether you are ill or are just trying to maintain an optimum level of health. Let’s take a look at possible alternative complementary therapies that might be prescribed if you visited a physician who practices alternative medicine. Prescribing physicians offering alternative medicine in conjunction with traditional medicine will often prescribe alternative therapies such as: osteopathic manipulation therapy, Chiropractic manipulation, acupuncture, energy work, massage, tai chi, and vitamin and nutrition therapy to assist the body in its quest for homeostasis (inner balance). Alternative complementary medicine is now receiving serious consideration by patients and physicians alike. Medications and surgery are sometimes weighed very carefully alongside the benefits of alternative medicine as a complementary or primary procedure choice by patients and physicians. Most insurance companies are not currently reimbursing the cost of many alternative medicine treatments and therapies. It is worth noting though that positive treatment results and patient demand is

facilitating the reevaluation of this healthcare insurance practice. Despite the lack of reimbursement by insurance companies, many patients are continuing to employ alternative complementary therapies. These patients generally assume an active role in their healthcare plan and take responsibility for their treatment choices. Research estimates that at least 61 million Americans use some form of alternative or complementary therapy for existing problems or for preventative purposes. How did these individuals choose an alternative or complementary care physician? The best advice one can give on how to choose an alternative complementary care physician is to use the same criteria that you used to choose your physician trained in Western medicine. You must carefully look at the physician’s qualifications. Specifically ascertain his or her alternative medicine knowledge, experience in alternative medicine, educational preparation, certification and diagnostic abilities. Interview the prospective physician either in person or on the telephone (you have the right to do this). It is extremely important to determine how much he or she knows about EDS and its complications. If you choose an alternative complementary medicine physician, what procedures/tests might you expect to be done prior to any form of treatment? Several of the diagnostic tests that will be done are the same as when you see your primary care “traditional medicine” physician - some will be different though. When you visit a physician operated alternative medicine clinic, you will have a thorough diagnostic work-up including: blood work, live blood cell analysis, urinalysis, infra-red imaging, hair analysis, digestive tract evaluation and biological aging markers. These tests will be completed before appropriate therapy is prescribed. Alternative complementary medicine is now recognized as a viable treatment option that may be explored as a second opinion to disease centered treatments and to surgical procedures. It also has demonstrated merit as a life-long preventative health care practice, particularly for individuals wishing to improve the quality of their lives. Alternative complementary medicine may or may not be an appropriate choice for you. The information presented only gives you a basic understanding of alternative complementary medicine. The decision to further explore this form of medicine is totally up to you. If you decide that alternative complementary medicine might be an option for you, you need to conduct more research on this subject. Always be informed of your healthcare options, success rates and potential complications before agreeing to any form of medical treatment - traditional or alternative. Respectfully, Darlene Reference: Mrklas, T. (1997, Fall/Winter). What is alternative medicine? Chronic Pain Solutions, p. 14.

February, 1998 Ehlers–Danlos National Foundation — Page 3

The Executive Element Linda Neumann–Potash, RN, MN A mission statement. How important is it? It is absolutely essential for any organization because it provides direction and purpose. Have you taken the time to read the mission statement of the EDNF? We have printed it on every issue of Loose Connections for the last 10 years. It states “The Ehlers-Danlos National Foundation was created in 1985 in an effort to provide emotional support and updated information to those who suffer from the disorder. In addition, EDNF serves as a vital informational link to and from the medical community.” We recently rang in the New Year, typically a time for most people to reflect on the year they’ve had and to plan and dream about the future. It is the same for me in my job as Executive Director of the EDNF. I looked back and have planned with our mission statement in mind.

Connections is our primary source for disseminating information. I am sure that all would agree that Loose Connections has continued to improve both in format and in We promise to provide emotional support to content over the last year. Thanks to the hard our members. Have we done it? I think so. work of Keith Clarke, an EDNF member who Although we have not had a national learning graciously volunteers his time and talent to conference since we last met in Cincinnati, we publish Loose Connections, we are able to still have other ways to provide you with a keep you well informed. We continue to seek sense of support. The list of chartered local an editor for Loose Connections; that is, branches continues to grow. We now have 21 someone who will look to the future to secure chartered Branches and more are on the timely articles and manage the whole horizon. This allows our members to meet on enterprise of putting together an issue filled a regular basis and share experiences with one with medical information as well as ideas for another. If you are not being served by a local living and coping with EDS. In the near branch and would like to start one in your future, we will have brand new brochures on area, you are welcome to contact Harold subjects such as types of EDS and the Facts Goldstein, Director, Local Branch about EDS based on the new Nosology. The Organization. His address and phone number brochures will be a good way for you to are listed at the end of each issue’s Branch inform your health care providers about EDS. News section. If you live in an area not We promise to serve as a vital informational serviced by a local branch, we can provide link to and from the medical community. you with the name of other EDNF members, Have we done this? The answer to this is a so that you may communicate with someone resounding yes. This has been a very exciting who knows what life with EDS is like. Finally, year for us. In June, EDNF and the EDS for those of you who have been waiting for Support Group of the UK, co-sponsored the what seemed an eternity, we will be having Nosology meeting in Villefranche, France. our eighth national learning conference this Five physician experts on EDS from around July, in Tampa, Florida. For those of you who the world gathered in France to discuss the are newly diagnosed or new to the revision of the classification of EDS. The Foundation, I strongly recommend attending resulting Nosology paper will be published in this conference. It is a very powerful the American Journal of Medical Genetics in experience. You will meet many other people the near future. The classification of EDS with EDS and learn more in a few days than types has been simplified, each defined by you could ever think possible. Of course, for major and minor criteria. Preliminary those of you who have already been to a brochures have been printed based on the new conference, I need not sell it to you. You Nosology. We have purchased a booth and already know the benefits of meeting and have disseminated our new information at the sharing with other people in a similar American Society of Human Genetics last fall situation. Some describe it as the one week in Baltimore and will be doing the same this out of the year that they feel normal. February at the Joint Clinical Genetics We promise to provide updated information to those who suffer from EDS. Have we done this over the past year? Most definitely. Loose

conference in Los Angeles. We distributed over 2000 brochures in Baltimore to researchers, geneticists, nurses and genetic

counselors. We plan to continue this annually. We will also be targeting other specialty groups such as orthopedic surgeons and rheumatologists by attending their yearly conferences and distributing our information. Hopefully, more people will become aware not only of our existence, but also of our new information. Our goal is to help facilitate earlier diagnosis of EDS. In addition, we now have a website full of information on EDS. Many articles from past issues of Loose Connections may be found there. It is linked to other related websites such as those of local branches and those of EDS support groups around the world. Many people have found out about our existence through the information superhighway. Please take some time to visit the website if you haven’t already done so and invite your health care providers to do the same. Once again, we have Keith Clarke to thank for setting this up for us. Our web site address is: http://www.ednf.org So, in my assessment, 1997 looks like it was a good year. We hope to make 1998 an even better year. On June 14th, we will hold our first major fund raising event. It is our Comic Connections event, hosted by Harvey Korman. In addition to Harvey as the host, many others have agreed to serve on the honorary committee, notably, Mel Brooks, Carol Burnett, Tim Conway, Ted Danson, Budd Friedman, Norman Greenbaum, Buz Kohan, Tommy Lasorda, Hal Linden, Peter Marshall, Tom Poston, Vin Scully, Steve Soboroff, Alan Thicke, Saul Turteltaub, and Dick Van Patten. This event has been a dream of everyone on the board of directors for many years. It almost seems unbelievable that it is really going to happen. But thanks to the generosity and compassion of Harvey Korman, this is soon to be a reality. It is a tribute to him that so many others answered his request to serve on the honorary committee. With this event, we hope to not only raise necessary funds, but also to raise awareness of EDS. The Board of Directors meets via telephone conferencing every other month . We are striving to continue the dream of Nancy Rogowski. We believe that we are doing a good job, but we realize that much more needs to be accomplished. If you feel that you have a talent or resources that would help our efforts, please contact me. EDNF was built by one person, volunteering her time and talents and continues to run by people volunteering their time and talents. We welcome your feedback as well as your support. You now know our mission statement. Our goal is to improve the lives of those affected by EDS through support, education and, research.

February, 1998 Ehlers–Danlos National Foundation — Page 4

— Branch News — By Harold Goldstein, Director, Local Branch Organization An outfit from the Texas Panhandle area around Amarillo came loping in to town carrying an application for a charter that would make them our 21st chartered branch. The Internal Revenue Service has notified us that the tax-exempt status of the national organization has been extended to the first 20 chartered branches, those whose names are printed in capital letters in the summary below.

Phoenix: An organizing meeting is planned for late in February. Christine Phillips, (602) 465-0502. Tucson: The group held a meeting and elected officers. Robin Forsyth, (520) 579-8351.

GREATER LOS ANGELES BRANCH: At its November meeting the branch elected new officers. Believing that its area was too big to serve members conveniently, it decided to ask the Board of Directors to change its charter to Greater Los Angeles Branch. Meetings will be held every second month, alternating between the San Fernando Valley and Central Los Angeles. First meeting for 1998 was set for January 11, with Linda NeumannPotash presenting a brief overview of the new EDS Nosology. Goals for the year were also established. Several members of the Branch have volunteered to assist with the EDNF booth at the 5th Annual Clinical Genetics Conference to be held in Los Angeles. On March 8 th, Cheryl Hood, C.P.O., will speak on “Bracing and Orthotic Options for People with EDS.” On May 17th, Linda Neumann-Potash will speak on the new diagnostic criteria for EDS. Shari Gamson, President, (818) 893-3937. San Diego: Toni Owen, (619) 274-0472 NORTHERN CALIFORNIA BRANCH: The branch’s exhibit at the Abilities Expo in San Mateo was visited by many people, and there was much interest in a list and demonstration of “EDS-friendly products” by Stayce Curry, R.N. The branch also ran a successful dinner gala and silent auction to raise money for scholarships to attend the Tampa Learning Conference. The meeting on February 21 will feature a discussion of skin care. At the April 18 meeting Patti Gladfelter will return, discussing physical therapy, and conducting brief individual sessions with members. Maggie Buckley, President, (510) 947-2358. Santa Barbara: This is a support group that meets irregularly. Rich Scholl, (805) 683-8874.

WASHINGTON METROPOLITAN AREA: A meeting to take care of organizational chores and to set an agenda for the year, including topics for speakers, was scheduled for February 1. Marilyn Della Badia, President, (703) 924-1220.

TAMPA BAY AREA: At the November meeting, the branch decided to skip a Learning Day for 1998 and concentrate on the national EDNF Conference, on which members are working hard. Peggy Rocha Snuggs, President, (813) 949-1585. Southeast Florida: Colleen Butcher, (561) 283-9499. Orlando: Pam Williams, (352) 735-2735.

GA IL

ATLANTA: Kathy Parrish, Secretary, (770) 338-9570. CHICAGO: Branch is raising funds by “Shop N’ Share” days at local stores, at which the branch gets a percentage of the amounts of members’ purchases. Local dues were set at $20 per year for each family. Pat Damler, President, (815) 568-6216.

ME MAINE BRANCH: On February 8, Jeannie Young, Occupational Therapist, will speak on “Small Joint Protection and Adaptive Equipment.” Samantha Paine-Paradis. President, (207) 442-8779.

MD BALTIMORE: A meeting of branch officers is scheduled for January, and a branch meeting will be held in February or March. Michelle Adams, President, (410) 879-0548.

MA Boston: The group is working at finding a place to hold its first meeting. Robin Neas, (617) 767-4553 . Continued On Page 6

February, 1998 Ehlers–Danlos National Foundation — Page 5

— Branch News — MI Detroit: Renee Hall, (313) 868-7086 MN MINNEAPOLIS-ST.PAUL: A meeting on January 6 was devoted to discussion of plans for future activity. Jackie Collins, President, (612) 934-4420.

MO ST. LOUIS: The branch meets on the first Thursday of every month at Uncle Bill’s Pancake House, on South King’s Highway. Janet Dunn, President, (314) 645-4114.

NE NH NJ

Omaha: An organization meeting was set for January 24. Cheri Lynne Woodward, (402) 451-8905. Manchester: An organization meeting is scheduled for February 28. Tom and Tina Roe, (603) 624-7947 SOUTHERN NEW JERSEY: The group is actively promoting information on EDS among health professionals and the public. A branch meeting is planned for February. Cathy Bowen, President, (609) 625-7975. CENTRAL NEW JERSEY: A meeting is planned for early April. Lisa Schoenberg, President, (732) 254-1285.

NEW YORK METROPOLITAN AREA: At its November meeting the branch discussed the problem of finding doctors familiar with EDS, and pain management and physical therapy in treatment of EDS. Catherine Alvarez, Co-President (718) 652-2867, and Kim Christensen, Co-President, (914) 632-7264. WESTERN NEW YORK: Branch meetings have been devoted to their project to mail information on EDS to 800-1,000 health professionals in the area. The branch is considering making a video to send to medical and nursing schools. Lou VanWert, President, (716) 688-2756.

PIEDMONT TRIAD: The January 24 meeting will be devoted to business. On February 28 the branch will meet as a support group, with a leader provided by the University of North Carolina at Greensboro. (The branch has found that its support group sessions are more productive when led by a trained counselor.) On March 28 the speaker will be Dr. Duncan McCall, a rheumatologist. Charlotte Mecum, President, (336) 722-5879. Western North Carolina: Hannah Dickson, (704) 253-1323.

NORTHEAST OHIO: The branch held a very successful fund-raiser in December, selling bushels of nuts and bringing in bushels of money. The annual holiday celebration in December featured lots of food, exchange of gifts, and a raffle of gifts donated by local merchants. At the next meeting, February 14, Dr. Jane Steckler will talk about “Coping with a Chronic Illness.” Darlene Clarke, President, (440) 888-7317.

OR PA

Portland: Shulamit Levine, (503) 775-0058.

RI TX

PHILADELPHIA: Susan Johnson of the Education Department of Doylestown Hospital will speak to the branch on pain management on February 7. The branch is trying to enhance its support group sessions by asking members to report to the group on an experience they have had, in this way focusing the discussion more sharply. Roberta Kroll, President, (215) 794-8043. Providence: Sue Kozlow, (401) 233-2046. Dallas: Sarah Tovar, (972) 625-9142. TEXAS PANHANDLE: At a meeting November 1 the group elected officers and applied for a charter. Connie Nieto, (806) 293-7361.

VA RICHMOND: Kim Hayes, President, (804) 739-0739. WA SEATTLE: Meetings will be quarterly, starting in February, At each there will be a pot-luck dinner, and, usually, a speaker. Barbara Uggen, President, (253) 529-4861

MILWAUKEE: The branch goes into hibernation in the winter. Next meeting will be in March. Lynn Sanders, President, (414) 679-9682.

For Information About Local Branches & Support Groups Your organizer would appreciate a call from you expressing your interest. If you would like to set up a branch in your area, write or call: Harold Goldstein, Director, Local Branch Organization, 4701 Willard Ave., Apt 934, — Chevy Chase, MD 20815 (301) 656–2053

Manuscript Guidelines for...

A Very Special Thank You The Board of Directors would like to express their sincere gratitude to members of the Baltimore and Atlanta Branches who helped Linda Neumann-Potash and Darlene Clarke man the EDNF booth at the 47 th Annual Meeting of the American Society of Human Genetics in October of 1997. Their assistance allowed us to speak individually with each participant who came to our booth. We could not have done it without their help! The members who deserve this special thank-you are:

Loose Connections 1.

Manuscripts should be voluntary contributions submitted for the exclusive attention of Loose Connections.

The submitted manuscripts should be written in a clear and concise manner. The author(s) should write in a style appropriate for lay audience. The content of the manuscript must focus on Ehlers–Danlos Syndrome, complications of EDS, current research on EDS, or the day to day issues of living and coping with EDS.

Manuscripts should be submitted on a 3.5" disc in WordPerfect 5.1 or higher or an IBM compatible word processor. If this is not possible, the manuscript must be typed double spaced. Handwritten manuscripts will be automatically rejected.

Fancy type fonts, italic, bold and underlines are not to be utilized. We will convert them to our printing style.

April Leaman

The 48 Annual Meeting of the American Society of Human Genetics will be held in Denver, CO from October 27-31, 1998. If any EDNF members in the Denver area would like to volunteer to help the EDNF man our booth, please contact Linda Neumann-Potash at the National Office. We really need your help to make this meeting a SUCCESS!! Thank you in advance if you can be of any assistance at this meeting.

Manuscripts/discs should be sent to: The Ehlers–Danlos National Foundation 6399 Wilshire Blvd., Suite 510 Los Angeles, CA 90048

A 100 word abstract should be included that stimulates readers’ interest in the topic and states what the readers will learn or how they will be better off after reading the article.

Include a title/author biography page. The authors’ biographic information includes: name, credentials, position, professional affiliation, city and state. Example: Thomas Smith, M.D., Professor, Department of Pediatrics, Case Western Reserve University, Cleveland, OH.

Tables and figures should be placed at the end of the manuscript after the references. Tables must be numbered consecutively with Arabic numbers and have a title at the top. Figures and tables must be cited in numerical order in the text.

Number pages consecutively centered at the bottom of each page. Do not justify the right margin. Do not use running headers or footers.

Baltimore Branch Michele Adams — Teresa Lancaster Randy Lancaster — Nancy Spencer

Atlanta Branch th

Ask A Physician Question: “What is the difference between Joint Hypermobility Syndrome and Ehlers–Danlos Syndrome?” Answer: Joint Hypermobility is a relatively common manifestation among individuals who present to rheumatologists. In some instances, there is a positive family history as this trait is inherited in an autosomal dominant fashion. Joint Hypermobility is one of the major criteria in several EDS types. However, in order to make the diagnosis of EDS in an individual, the presence of other signs, i.e., skin extensibility or the presence of dystrophic scars is necessary. I hope this clarification is useful. Petros Tsipouras, MD Department of Pediatrics University of Connecticut Health Center 263 Farmington Avenue Farmington, CT 06030

10. Subdivide the manuscript into main sections by inserting subheads in the text. Subheads should be succinct and meaningful. 11. References are placed at the end of the manuscript. References are cited consecutively by number and listed in citation order in the reference list. 12. Written permission must be obtained from a) the holder of copyrighted material used in the manuscript; and b) individuals mentioned in the narrative or acknowledgment. Letters of permission must be submitted to the publisher of Loose Connections before publication of the manuscript. 13. If you request that your 3.5 disc or original manuscript be returned after publication, enclose a self–addressed envelope or manuscript–sized envelope with sufficient postage affixed. 14. Surveys submitted for publication in Loose Connections must include a letter showing IRB (Institutional Review Board) approval from the researcher’s associated institution. 15. Loose Connections reserves the right to edit all manuscripts to its style and space requirements and to clarify the presentation if necessary.

February, 1998 Ehlers–Danlos National Foundation — Page 7

The Revised Nosology from page 1

How is EDS Diagnosed Diagnosis of EDS is based upon clinical findings and upon the family history. Since many patients do not fit neatly into one of the specific types of EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect. Sometimes, a physician may perform a skin biopsy to study the chemical makeup of the connective tissue. The biopsy involves removing a small piece of skin, under local anesthesia. Physicians who are able to diagnose EDS may include medical geneticists, pediatricians, rheumatologists and dermatologists.

Treatment/Management of EDS The gaping skin wounds, which are common in several types of EDS, should be approached with care. Proper repair of these wounds is necessary to prevent cosmetic disfigurement. Surgical procedures can be risky, as fragile tissues can unexpectedly tear. Suturing may present problems for the same reason. Excessive sun exposure should be avoided by the daily use of sunscreen. One should avoid activities that cause the joint to lock or overextend. A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily. Prior to starting a regimen such as this, it is imperative to consult with your physician for specific recommendations. In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause

early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.

Prognosis The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal.

Reference: Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., & Wenstrup, R. (in press). Ehlers-Danlos Syndrome: Revised Nosology, Villefranche, 1997. American Journal of Medical Genetics.

Types Of Ehlers–Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue. There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.

Classical Type (Formerly EDS Types I & II) Marked skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruisability. Examples of tissue extensibility and fragility include hiatal hernia, anal

prolapse in childhood and cervical insufficiency. Hernias may be a postoperative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead and chin. Molluscoid pseudotumors (calcified hematomas) associated with scars are frequently found over pressure points such as the elbows, and spheroids (fat containing cysts) are usually found the on the forearms and shins. Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flatfoot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints. Muscle hypotonia and delayed gross motor development may also be evident. Clinical Testing - Abnormal electrophoretic mobility of the proα1(V) or proα2(V) chains of collagen type V has been detected in several but not all families with the Classical Type. The Classical Type of EDS is inherited in an autosomal dominant manner.

Hypermobility Type (Formerly EDS Type III) Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large (elbows, knees) and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement (hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity. Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited. To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.

February, 1998 Ehlers–Danlos National Foundation — Page 8

Vascular Type (Formerly EDS Type IV)

hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads This type is generally regarded as the most to delayed gross motor development. serious form of EDS due to the possibility of Individuals with the Kyphoscoliosis Type arterial or organ rupture. The skin is usually present with scoliosis at birth that is thin and translucent with veins being seen progressive. The phenotype is most often through the skin. This is most apparent over severe, frequently resulting in the loss of the chest and abdomen. There are certain ambulation in the second or third decade. facial characteristics present in some affected Scleral fragility may lead to rupture of the individuals. These manifestations include ocular globe after minor trauma. large eyes, thin nose, lobeless ears, short Tissue fragility including atrophic scars and stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly easy bruising may be seen in the in the face and extremities. Minor trauma can Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: lead to extensive bruising. marfanoid habitus (Marfan like features); Arterial/intestinal/uterine fragility or rupture microcornea (abnormally small cornea); and commonly arise in this type of EDS. radiologically considerable osteopenia Spontaneous arterial rupture has a peak (diminished amount of bone tissue). incidence in the third or fourth decade of Kyphoscoliosis Type EDS is the result of a life, but may occur earlier. Midsize arteries deficiency of lysyl hydroxylase (PLOD), are commonly involved. Arterial rupture is which is a collagen-modifying enzyme. This the most common cause of sudden death. type of EDS is inherited in an autosomal Acute diffuse or localized abdominal or recessive manner. Kyphoscoliosis Type can flank pain is a common presentation of arterial or intestinal rupture. Life expectancy be diagnosed through a urine test. is shortened with a majority of individuals living only into their forties. Pregnancies may be complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding. Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at birth. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenous fistula (an opening between an artery and vein), carotid-cavernous fistula; pneumothorax (collapse of a lung) / pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingival recession and complications during and after surgery (i.e. wound dehiscence). The Vascular Type of EDS is caused by structural defects in the proα1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.

Kyphoscoliosis (Formerly EDS Type VI) Generalized joint laxity and severe muscle

Arthrochalasia Type (Formerly EDS Type VIIB) Congenital hip dislocation has been present in all biochemically proven individuals with this type of EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS. Other manifestations of this type may include: skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; kyphoscoliosis and radiologically mild osteopenia. The Arthrochalasia Type is caused by mutations leading to deficient processing of the amino-terminal end of proα1(I) [type A] or proα2(I) [type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.

in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small. Dermatosparaxis Type EDS is caused by a deficiency of procollagen I N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.

Other Types Of EDS The current EDS type V (X-linked) has been described in a single family. It is a rare variant and the molecular basis of which remains unknown. THis was previously removed from the EDS classification. The current EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability. This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain. The EDS type IX was previously redefined as “Occipital Horn syndrome”, an X-linked recessive condition allelic to Menkes syndrome. The current EDS type X has been described in only one family. The EDS type XI termed “Familial Joint Hypermobility syndrome” was previously removed from the EDS classification. Its relationship to the EDS is not yet defined.

Conclusion This simplified classification system will facilitate an accurate diagnosis of the EhlersDanlos syndrome and allow a clearer distinction of disorders that overlap with EDS. It is important to note that each type of EDS is distinct. If you have one type of EDS, you cannot develop another type. However, individuals with the same type of EDS may have slightly different manifestations because each of us is a unique person.

Dermatosparaxis Type (Formerly EDS Type VIIC) Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results

Reference: Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., & Wenstrup, R. (in press). Ehlers-Danlos Syndrome: Revised Nosology, Villefranche, 1997. American Journal of Medical Genetics.

February, 1998 Ehlers–Danlos National Foundation — Page 9

Eighth National Learning Conference Comes to Tampa, Florida The Eighth National Learning Conference, will be held in Tampa, Florida July 28th through 31st, 1998. The host Hotel will be the Tampa Airport Hilton at MetroCenter, Room rates are just $85.00 per night, which includes a complimentary service to and from Tampa International Airport. All rooms are oversized, offer individual climate control, color remote TV, alarm clock radios, r ida coffee service, irons, full length mirrors, phones with a, Flo1/98 p m a 3 T DATA ports and voice mail. Eight rooms are accessible — 7/ 7/28 including 2 with roll-in showers. Amenities include the use of the Hotel shuttle within a 3 mile radius, heated swimming pool and jacuzzi, lighted tennis court, complete fitness center, Hemingway’s restaurant and the Bay Breeze lounge with nightly complimentary hor d’oeuvres, 24 hour room service, complete ADA accessibilities, no access fees charged for 1-800 and credit card calls, and an 18-hole golf course across the street. Reservations should be made individually (EDNF will not be responsible for Hotel reservations) prior to July 7th , by calling (813) 877-6688 or the 1-800Hiltons number. Be sure to ask for EDNF Conference rates when you call. Those families wishing to stay in the Bay Area will be given Conference rates for the three day period before and after the Conference. Registration fees (to be announced) will cover the admission to all lectures, seminars, meetings, support sessions, and optional evaluations; admissions to Opening Night Party and the Banquet on July 31st. Also included in this year’s registration are Continental Breakfasts and 2 luncheon buffets. Plans are still being made, but some tentative sessions and seminars include physical therapy, water therapy, genetics, pain management, orthopedic concerns/ scoliosis, podiatry, immunology, patient advocacy, and sessions for care takers and children with EDS. There will be a general membership meeting as well as an update on the new Nosology.

EDS in NIH Research Project Harold Goldstein, Board of Directors Patients with EDS are included in a research project at the National Institutes of Health, described as a “natural history study” of connective tissue disorders. Patients are selected for inclusion in the study on the basis of their previous medical records. They are given a series of examinations - a blood sample is taken for DNA, a skin biopsy is taken for tissue culture (for EDS patients this may help in determining the type of EDS), an extensive eye examination is given by a genetic ophthalmologist, a heart examination is given with an echocardiogram (and a MRI of the chest for Marfan patients), photographs are taken of arms, legs, hands, feet, and joints, a history is taken, and the patient meets with a genetic counselor. In annual follow-ups, the eye exam and echocardiogram are repeated. It is intended that this will be a long-term study. Several hundred patients with connective tissue disorders will be included; there is no particular target number for EDS patients. The study is being conducted in the National Human Genome Research Institute of the National Institutes of Health, under the direction of Dr. Claire Francomano.

A new pre-conference meeting/dinner session on July 27th, will be held for a representative from each Branch. This session will include opportunities to interact and share, Branch finance issues, and the election of 2 Branch representatives to the Executive Board. Local Branches should plan to send a representative. Each Branch may hold a fund raiser and may keep 100% of the profits for this purpose! A complete registration packet will soon be available by calling the foundation, in the next issue of Loose Connections, and on the EDNF Homepage. Mark you calendars and plan to join us this summer in the Sunshine State.

For more information, contact Elizabeth Garabedian at: (301) 435-2443, or write care of: Medical Genetics Branch, NHGRI Building 10, Room 100101, MSC 1852 9000 Rockville Pike Bethesda, MD 20892

Don’t miss this opportunity to meet other EDNF members, while learning more about EDS. Conference Director, Peggy Rocha Snuggs can be reached at (813)-949-1585. February, 1998 Ehlers–Danlos National Foundation — Page 10

Letters To The Editor To The Great People at EDNF:

Dear E.D.N.F.,

I am a member of EDNF for several years now. I have Ehlers-Danlos as so my 2 daughters. It runs on my dad’s side of the family. I asked my younger daughter, Sarah, she is 19, for Christmas hints this year and she wanted me to make a donation in her name to EDNF. She is a great kid, who really cares about others. I told her I’d be happy to fulfill her wish. I would like to make the donation in her honor.

I would like to thank you for giving me a complementary membership this year. I am currently unemployed and struggling. This means a lot to me and I thank you for being so understanding.

Diana H., Macomb , MI

Dear E.D.N.F., The Rugrat’s Are Coming To Town

Dear Editor: I only want to say that it’s a very very good paper which puts the focus on the most interesting issues, even for me who live in Sweden with another health care system and another insurance system. It’s very professional made, specially since EDNF is not a big organization. I use to take home Loose Connections (very good name!!) via internet and read it with Acrobat. The Swedish EDS Forbund also have a paper - EDSbladet - published two times every year. It’s not so good looking as Loose Connections but on the other side the edition circulation is only 400. They can use a copiator and don’t need a printing works-house. As a professional journalist I should help them with the paper, but health problems and too early born children have stopped me from doing that. I will see in the future. Stefan Back, Umea, Sweden Dear Editor, Here is my renewal of my subscription. This past year has been a very hard one. I imagine that at almost 68 years old, I am about your oldest known EDS person. I asked some time ago about white bumps on my brain and if anyone had an idea of what they are. I have consulted 2 neurologists in my area and both agree they are “age bumps”. These same 2 doctors disagree though, on what I had last June. Whether it was a seizure (which I have no history of, nor does anyone in my family) or whether I had a stroke (as I thought I had then and still do). This stroke is in the center of the back of my head which is why my motor functions were affected. I never “passed out” but my muscle movement and coordination were affected. I have had 2 MRI’s and 2 EEG’s and since the 2nd set in October, there is no doubt that I had another stroke. I had one back in 1994. I have been told that the University of Chicago Hospital is a good place for “brains” and plan to go there in May when the Chicago weather is more beautiful. When it was 55 degrees here in Northwest Arkansas it was 7 degrees at my brother’s place in Chicago. I am still very interested in finding out if others have the “white bumps” on their brain as I do. The bumps are growing. In the MRI taken in October, the bumps seem to be larger that when first taken last June. If you know of anyone else with these bumps, please let me know. I wish you all well. Melba Wilmoth Ray 309 Sanders Ave. Springdale, AR 72764

Sincerely, H.K.D.

Lisa Schoenberg's (Central NJ EDNF) daughter Thea, age 17 has studied nearly every type of dance, voice, acting & the violin for numerous years. She has performed in over 20 musicals with local youth groups, schools & performing arts camp & has done choreography in many of them. She has taught Tap, Jazz, Hip-Hop, Stomp & Funk. Thea created a Dance Troupe at her high school, where she was also a Varsity cheerleader & still found time to entertain at local nursing homes & work P.T. at the local Dairy Queen. She was headed to college in Sept. for a double major in Education & Dance (which requires an audition). To practice auditioning, she went to NYC as they had just announced the new year long live National Tour of the "Rugrats", which is made up of an extraordinary adult cast, management & technical crew. Though she is far younger & had no professional experience, like the others, I guess she was just who they were looking for & Thea was offered the lead role of “Tommy Pickles”. The babies are double casted, as the full body costumes they wear make it impossible for one person to perform an entire show. Thea wanted so much to also dance & sing in the show so, near the end of the show the mobile figures over Tommy's crib become live dancers. By this time Thea has changed costumes, the other Tommy finishes the show, allowing Thea to become one of the dancers, at which time we first actually see her face. This all came as quite a shock to all of us, but it was an opportunity that couldn't be passed up. She is finishing her High School requirements through tutoring & a lap top & will graduate with her class this June & will delay college for a year. I feel that somehow this could lead to some major fund raising for the EDNF. I was never very good at this & am looking for ideas from all of you. The show is opening in Wallingford Conn., on 2/62/10. I still don't have a complete confirmed list. The following is confirmed & I will ask Leigh to post additional info as I get it. I do suggest that you get tickets as quickly as possible if you want to go as they sell “like hotcackes” 2/14-2/16 .... Dayton, OH

3/13-3/15 .... Albany, NY

2/17-2/18 .... Lexington, KY

3/17-3/18 .... Huntingdon, WV.,

2/20-2/22 .... Milwaukee, WI

3/20-3/22 .... Memphis, TN

2/25-3/1 ...... Atlanta, GA

3/24-3/29 .... St. Louis, MO

3/4-3/8 ........ Phila./Camden, PA

4/3-4/12 ...... Radio City Music Hall N.Y.C.

3/10-3/12 .... Springfield, MA

Washington D.C., Massachusetts, Ohio, Michigan, Pennsylvania, Tennessee, Louisville, Chicago, Canada, Calif., Washington , Utah, Colorado, Texas & many more to come. Any ideas or question’s, please contact me. Thanks for you help, Lisa

February, 1998 Ehlers–Danlos National Foundation — Page 11

— Memorials and Honorariums — Donations Donations received October 20, 1997 through January 20, 1998

10/1/97 through 12/31/97

Supporters

In Loving Memory Of Tomas Badik

In Memory Of Mark David Connor

Pam Badik

Stephen & Mary Ann Phillips

In Loving Memory Of William Huber

In Honor Of Carrie Cotter

Frieda & Wilhelm Huber

Jan Davidson

In Memory Of Sara Saltzman Goldstein, Marni Goldstein White & Callie Goldstein Ursula Daniel Gabriela & Bob Romanow

In Honor Of George & Jo Ann’s 34th Wedding Anniversary

In Memory Of Jordan Specht R.E. & Elaine Blouse Doris Parrish

Ruth Carlier

Herbert & Sylvia Malamud Bernice & Ben Malamud Beatrice Liebenberg Leanore & Albert Hutler Rose & James Goding Mr. & Mrs. Ric Fleisher

In Memory Of Danny Carlier Ruth Carlier

In Honor Of Our Daughter, Lisa Schoenberg

In Honor Of Darlene Clarke

Mr. & Mrs. Herman Travis Luba & Eugene Dreyer

Jane K. Clarke

Kathryn Arnow

Donald C. & Jackie Dawson (Premier Mfg. Corp.)

Richard & Iris Slotkin

Margaret Howells Joseph & Marilyn Vassel

Mr. & Mrs. Benjamin Haskel Mr. & Mrs. Ted Seamon Celia Levine Michael Goldstein

( $100 – $249) Arthur & Beverly Altemose Kathryn S. Arnow William Buckley Center Stage Catering Jan Davidson Paul Doughty Luba & Eugene Dreyer Kathy Dunn Executive Exchange, Inc Michael & Gloria Feigi Michael & Mary Ellen Feigi Aviva Goldstein Chery & Wayne Heinmiller Frieda & Wilhelm Huber Irving & Mae Jurow Jeanette & Robert Kreiser Edward & Shirley Martin Greg & Shari McDonald Mary Ann Phillips Ron & Robbin Ricci Gabriela & Bob Ramanow Nancy & Louis Regas Elizabeth Russell Irving Ryckoff Susan & Glenn Schafer Sylvia Serber George & Alison Sharpe Richard & Iris Slotkin Alex White & Cody Lyon Varooge Yerganian Larry & Sandra Zentz Rose N. Zeisel

Mr. & Mrs. Bernard Chapnick

In Honor Of Maggie Buckley

In Honor Of My Daughter, Sarah

Sally & Chick Webb

Diana Hemenway

In Honor Of Melissa Regas

In Honor Of my sister, Meryl Brutman, My #1 Sources Of Inspiration

Sonya & Henry Hirschberg

Nancy, Louis & Emily Regas

Irving Ryckoff

Dennis & Christine Genge

Alex White & Cody Lyon

Frank & Mary Cuenca

Mary & Gene Klaaren

Mr. & Mrs. Bill Pappas

Alan Brutman

Joseph & Kit Reed

($250 – $499) Alan Brutman The Center for Oral & Maxillofacial Surgery Ursula V. Daniel James J. Licari Thomas P. Murphy, M.D. Tibor & Erika Neumann Mr. & Mrs. Louis Rup Jeffrey & Dorothy Samel

Drs. William & Barbara Rafaill

Aviva Goldstein

Silver Benefactor

Mary Maher & Madelynn Rigopoulos

Bruce & Irene Mackler

George & Alison Sharpe

($1,000 – $2,499) Nancy Potash Premier Manufacturing Corp. Murray & Belle Nathan Isabel White & Duffy White

Peter & Theda Henle

Gold Benefactor

Alfred Reifman Eric Goldstein & Xiaorong Li

($ 2,500 – $ 4,999) Anonymous

Jeanette Vosk

Platinum Benefactor

In Memory Of Nancy Hanna Rogowski Mr. & Mrs. David Lockhart

Mae & Irving Jurow Murray & Belle Nathan Mark Levine Harold Goldstein

Jeanette Rigopoulos

Rose Zeisel

Jeanette & Bob Kreiser Isabel Guy & Duffy White

Patron Donors

($ 5,000 or more) Harold Goldstein February, 1998 Ehlers–Danlos National Foundation — Page 12

EDNF’s Non-Bowl, Bowl–A–Thon Announcing EDNF’s First Annual Non-Bowl Bowl–A–Thon. This is your opportunity to get involved and help EDNF and your local branch raise funds without the risks of bowling. The object of this event is to get family, friends, co-workers and especially your physicians to sponsor you “Not toBowl”.

7 Reasons to get involved • It’s a way to get involved an help raise money and public awareness about EDS. • EDNF chartered local branches receive 40% of the proceeds when their members participate • It’s an activity that everyone can participate in • It’s a fun and easy way to raise money • Can you think of a better way to ask your physician for a donation • Earn an EDNF T-shirt and/or a tote bag for your participation • It’s an AMA approved physical activity for people affected by EDS

Prizes If you raise $100.00, you will receive an EDNF Tote Bag or Fanny Pack. (Colors Vary) If you raise $200.00 you will receive an EDNF T-shirt. (T-shirts are available in S, M, L, XL and XXL) T-shirts are available in Blue or Birch Gray. If you raise $300.00 , you will receive both a T-shirt and a Tote Bag. If you raise $400.00, you will receive a T-shirt, Fanny Pack and Tote Bag.

EDNF’s Non-Bowl, Bowl–A–Thon Please complete the information below. If you are a member of a local chartered branch, please make sure to indicate which branch you are a member of, 40% of the money you raise will be sent to your local branch. Remember the object is to get people to sponsor you “Not toBowl”. Name: ___________________________________________________________ Phone # _____________________________________ Address: ______________________________________________________________________________________________________ City: _______________________________________________ State: ______ Zip code: _____________________________________ Are you a member of an EDNF Chartered Branch? ________________ Which Branch?: _____________________________________ Signature of participation, if you are under 18, a parental signature is required _____________________________________________________________________________________________________________ participant/ or parent

PLEASE USE ADDITIONAL SHEETS OF PAPER IF NECESSARY Sponsor’s Address Amount Total Name Sponsored Paid _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________ _____________________________________________________________________________________________________________

EDNF is a not for profit corporation. All donations to EDNF are tax deductible and sincerely appreciated. February, 1998 Ehlers–Danlos National Foundation — Page 13

Ehlers–Danlos National Foundation — Back Issues — 6399 Wilshire Blvd. Suite 510 Los Angeles, CA 90048 (213) 651–3038 Check Your Library For Missing Back Issues Of Loose Connections & Articles Newsletters Cost: $2.50 each or 5 for $10.00 – price includes postage and handling. For Canadian orders, please add $3.00, and for all other countries outside the United States, please add $5.00 to the cost of past issues requested which will cover shipping and handling charges. 1997, Volume 12, Number 4, “Chronic Pain is a Manifestation of the Ehlers–Danlos Syndrome”

1994, Volume 9, Number 1, “Official Launch of the Ehlers–Danlos Syndrome Database Manager”

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1993, Volume 8, Number 4, “Dental Manifestations and Considerations In Treating Patients With Ehlers–Danlos Syndrome”

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1993, Volume 8, Number 2, “Gastrointestinal Considerations in People Suffering From Ehlers–Danlos Syndrome”

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1993, Volume 8, Number 1, “Chronic Pain Management Treatment Facilities”

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1992, Volume 7, Number 4, “Perspectives on Pain History and Current Status”

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1992, Volume 7, Number 3, “Use of Mesh to Prevent Recurrence of Hernias”

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1991, Volume 6, Number 4, “Ehlers–Danlos Syndrome Type VI”

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1991, Volume 6, Number 3, “Ehlers–Danlos Syndrome Type III and Pregnancy”

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1990, Volume 6, Number 1, “Passport to Seattle”

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1990, Volume 5, Number 4, “The Emergency Room and Ehlers–Danlos Syndrome”

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Number

1997, Volume 12, Number 3, “Managed Care – A Basic Map For Navigating Your Insurance” 1997, Volume 12, Number 2, “The Role of the Rheumatologist in Ehlers–Danlos Syndrome” 1997, Volume 12, Number 1, “Ergonomics: Recognition and Evaluation of Risk Factors and Potential Stressors (Part 3)” 1996, Volume 11, Number 4, “Ergonomics: Recognition and Evaluation of Risk Factors and Potential Stressors (Part 2)” 1996, Volume 11, Number 3, “Ergonomics: Recognition and Evaluation of Risk Factors and Potential Stressors (Part 1)” 1996, Volume 11, Number 2, “The Medical Partnership: How to Work as a Team With Your Doctor”

Payment

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1995, Volume 10, Number 1, “Mandibular Joint, Orthodontic and Dental Findings In EDS”

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1994, Volume 9, Number 3, “Genetic Information and Health Insurance” 1994, Volume 9, Number 2, “Heritable Disorders of Connective Tissue and Disability and Chronic Disease In Childhood”

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Total Number of Back Issues Ordered: Total Number of Articles Ordered: Shipping and Handling Charges: (If applicable) Total Amount of Payment Enclosed: Please make payment to the “Ehlers–Danlos National Foundation.”

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❏ Family Membership ............................................................. $30.00 Canada & Mexico

❏ Corporate Membership ....................................................... $ 50.00 ❏ Patron Donor ...................................................................... $250.00

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Please take a few minutes to list problems or ideas that you would like to see covered in future issues of “Loose Connections”. The Ehlers— Danlos National Foundation was created to help everyone and your ideas and thoughts are very important to us. _____________________ ________________________________________________________________________________________________________________ ________________________________________________________________________________________________________________ If you are interested in corresponding with other families, please sign the release below. Please note that only your name, address and phone number will be released and ONLY to other members. All other information you provide to the foundation will remain strictly confidential. You are not obligated to sign this release. ❏ Check here if you’d like the name and address of three other members in your area to communicate with. ❏ Check here if you want to be notified about a support group in your area (Your name will be forwarded to the nearest branch). Signature: ______________________________________________________________________

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Signature: ______________________________________________________________________ Expiration Date: ____________________ The EDNF does not lend, sell or trade its membership list to any individual or organization. The EDNF is a not for prof it corporation. Your donation is ta x deduct ible and is sincerely appreciated. February, 1998 Ehlers–Danlos National Foundation — Page 15

Loose Connections Ehlers–Danlos National Foundation 6399 Wilshire Blvd. Suite 510 Los Angeles, CA 90048

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Ehlers–Danlos Syndrome (EDS) is a group of heritable disorders of the connective tissue often characterized by hyperextensible skin, hypermobile joints, easy bruisability of the skin, and a bleeding diathesis. EDS is named for two physicians (Ehlers and Danlos) who described forms of the condition in the early 1900s. At least six forms of Ehlers–Danlos Syndrome have been described, which are not gradations in severity, but represent distinct disorders which “run true” in a family.

Together... We Will Find A Brighter Day

The Ehlers–Danlos National Foundation (EDNF) was created in 1985 in an effort to provide emotional support and updated information to those who suffer from the disorder. In addition, EDNF serves as a vital informational link to and from the medical community. Loose Connections, the official communications link of EDNF, is published on a quarterly basis. Subscription information may be obtained by writing the Foundation.

6399 Wilshire Blvd. Suite 510 Los Angeles, California 90048 Phone: (213) 651–3038 — FAX: (213) 651–1366 Web Site: www.ednf.org — E–Mail: loosejoint@aol.com