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LGDA FUND RAISING EVENT – FIRST ANNUAL GOLF OUTING – KEWASKUM,WISCONSIN
The Lymphangiomatosis & Gorham’s Disease Alliance is pleased to announce the upcoming event, September 24, 2011 at the Hon-E-Kor Golf Club, of Wisconsin’s First Annual Golf Outing in support of the work of the LGDA.
Having the challenge of living with the disease spectrum of lymphangiomatosis/Gorham’s disease since he was a child, Scot Wiesner is the driving force for this inaugural event to raise funds to support research into this rare, catastrophic, often life-threatening disease syndrome. As Scot explains: “I am 36. Many kids who get this disease don’t reach teenage years”. Scot is being supported in organizing this event by his dear friends and co-chairs, Mitch Maersch and Melissa Zehren.
The reason for this benefit is to raise money for the LGDA to be able to fund research and help patients & families cope with this debilitating disease complex.
If you are interested in learning how you can participate in, or give your support to help Scot achieve his objectives to help others with this disease, we urge you to go to the link www.lgdagolfouting.info. You can register to play, or perhaps, sponsor a hole to honor a loved one or commemorate the memory of a special person, or, simply make a donation to the event. You may mail any donations to: LGD Alliance, c/o Scot Wiesner, P.O. Box 9, Brownsville, WI 53006. We will be most grateful.
The Lymphangiomatosis & Gorham’s Disease Alliance is an approved IRS 501 (c)(3) public charity. Donations are tax deductible.
UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE AT SHANDS HOSPITAL SPONSORS RARE DISEASES DAY EVENT
The Lymphangiomatosis & Gorham’s Disease Alliance (LGDA) and the University of Florida College of Medicine & Shands Hospital, Gainesville, FL, and UF‘s Orthopaedic & Sports Medicine Institute, are having an all day exhibit and information booth on rare bone diseases, including bone tumors, on February 28th.The exhibit will be held in the grand atrium of the hospital to commemorate the 4th worldwide Rare Diseases Day co-led by the National Organization of Rare Disorders (NORD) and the European Organization of Rare Diseases (EURORDIS)
John D. Reith, MD, Clinical Professor & Director of Bone and Soft Tissue Pathology, UF–Shands, and Jack Kelly, President, LGDA will be hosting the exhibit.The LGDA is a member of the Rare Bone Disease Network, a consortium of 8 rare musculoskeletal diseases, and the American Thoracic Society Council of Public Representatives for rare lung disorders. Dr. Reith is a founding member of the LGDA Medical Advisory Council.
Florida Governor Rick Scott issued a proclamation declaring February 28, 2011, Rare Diseases Day throughout the state. There are more than 6000 rare diseases affecting more than 25 Million people in the U.S.
INSTITUTE OF MEDICINE OF THE NATIONAL ACADEMIES RARE DISEASES REPORT
The Institute of Medicine (IOM) released a report calling for implementing an integrated national strategy to promote rare diseases research and product development.
The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by theNational Institutes of Health (NIH) and the Food and Drug Administration (FDA).The full text of the report is available on the IOM website at this link:
As a key stakeholder in the rare disease community, the National Organization for Rare Diseases (NORD) provided input to IOM for this report. NORD President and CEO Peter L. Saltonstall today issued the following statement: “The IOM report contains many recommendations that NORD advocates and endorses.
On the regulatory and discovery front, NORD is working closely with the FDA and NIH to help implement many new initiatives. Earlier this year, for example, NORD established a task force with the FDA and NIH to achieve many of the objectives identified by the IOM report.
The report provides further support for these joint efforts. “NORD especially endorses the IOM recommendations that would seek to assure better access by patients to new therapies and a compendium that would recognize that some therapies used by patients with rare diseases are not formally approved by the FDA for that use. Assuring access to existing and new therapies is a top priority, and we are pleased that the report recognizes that patients with rare diseases often face special challenges regarding access.”
[The foregoing information provided courtesy of NORD press release.]
Gorham disease is included in a section of the IOM report.. The Lymphangiomatosis & Gorham’s Disease Alliance (LGDA) is listed in the reference.
LGD ALLIANCE EXPANDS WITH AFFILIATION IN EUROPE
LGD Alliance – Europe soon to be registered
The Lymphangiomatosis & Gorham’s Disease Alliance will soon have official organisational status in Europe. We are moving on to establish and register Lymphangiomatosis & Gorham’s Disease Alliance – Europe, LGD Alliance – Europe, a not-for-profit sister association of LGD Alliance, spreading the activities and reaching towards the patients and families all across Europe. The European affiliate will include founding members from Denmark, France, Germany, Finland, and Spain.We expect members to participate from many other countries in Europe.
“This development is a significant step in advancing the worldwide mission of the LGD Alliance – to improve the care of patients with lymphangiomatosis & Gorham’s disease, and to promote research that will lead to effective treatments and a cure”, said Jack Kelly, President, LGD Alliance, Boca Raton, FL.“We have many patients in our rare disease community throughout Europe.LGD Alliance –Europe will be the beacon of ‘hope and help’ for all those afflicted with the orphan diseases: lymphangiomatosis/Gorham’s disease”, said Monique Schloupt, leader of A.L.E.G,the first Gorham disease association in France and Spain.The country for registration will be Finland; the field of activity and members will be scattered throughout Europe.
The first official meeting to establish the LGD Alliance – Europe will be organised as “chat meeting” through the internet-based program, Skype, to give an opportunity to all those interested from any part of Europe to participate. We also cordially welcome, as guests, others from around the globe who may be interested in our mission to participate and follow the meeting.Guests will have no voting privileges or rights.The meeting will be held on Wednesday 24th of March 2010 at 6PM Central European time. We warmly welcome everyone to get connected! You may contact firstname.lastname@example.org, three days prior to the meeting to be included in the participants of the meeting.
The primary matter for the Agenda of the meeting will be to take the official decision on establishing LGD Alliance – Europe and election of the first Chairperson and Executive Committee. We kindly ask anyone willing to be considered for nomination as Chairperson or into the Executive Committee to send their biography or Curriculum Vitae by 18th of March to Titta Antilla, Acting Chair, at email@example.com
For the Organising Committee
LGD Alliance – Europe
Titta Antilla, Helsinki Finland
FOUNDATION EXPRESSES DEEP GRATITUDE TO WORLDWIDE LYMPHANGIOMATOSIS & GORHAM’S DISEASE COMMUNITY AND FRIENDS
We wish to express, most sincerely, our deepest appreciation to all those throughout the world who sent us letters, notes, cards, and emails, and personal calls to convey their support and condolences on the passing of our Founder, Jana Kelly Sheets. And, we are so grateful for the special gifts made to the LGD Alliance honoring the life and work of our courageous, indefatigable leader who dedicated the last 5 years of her life to bringing brightness where there was darkness.
The outpouring of support to Jana’s family has been overwhelming – and for all of the family I extend our deepest thanks. We never realized how widespread the impact was that Jana had on people’s lives around the globe. We all miss her so very much – especially her gentleness.
At this time we wish to assure the worldwide community that the Patient Support Program at the LGD Alliance continues – and that we are fully committed to providing the same high level of support to the L/GD patients and families who seek assistance and information about lymphangiomatosis and Gorham’s disease, or help in finding expertise. We have named a new Director of Patient Support and will be announcing the formal appointment next week, along with other very important news.
New patient inquiries can continue to be sent to Patient Support Team. For all other matters please contact us at firstname.lastname@example.org.
With our deepest gratitude,
JANA SHEETS, FOUNDER OF LGD ALLIANCE, DIES
Jana K. Sheets
Founder, LGD Alliance
1974 – 2010
Jana Kelly Sheets of Bahama, NC, age 35, died Wednesday, January 6, 2010 at home surrounded by family. Jana’s long fight against her rare disease – lymphangiomatosis, has been chronicled in several print-media feature stories.
As founder of the Lymphangiomatosis & Gorham’s Disease Alliance, a charity dedicated to patient support and organizing research interest, Jana was known throughout the worldwide patient and medical professionals communities concerned with these two catastrophic –mainly pediatric diseases. She had devoted the last 4 years of her life to the cause of patients and families affected with these rare, poorly understood, orphan-diseases. Jana was also a founding Board Member of the Lung Transplant Foundation, Durham, NC.
Jana was born in Basking Ridge, NJ and lived in Mendham, NJ, Berlin, NJ, Ithaca, NY, and Delray Beach, FL, moving with her loving and caring husband, Eric D. Sheets, to the Durham, NC area for a live-saving double-lung transplant six years ago at Duke University Medical Center. She graduated from Ithaca High School in 1992, and attended Ithaca College. Until she was no longer able to work, Jana was a product manager, and special assistant to the vice president of Rexall-Sundown, a supplement product company in Boca Raton, FL. Jana was a devout Christian who honored her Lord and Savior every day.
Eric and Jana spent so many wonderful years together since their marriage on Sanibel Island, FL in 2003, living first in Delray Beach and then in their current home in Bahama, NC. A highlight of her life included the many frequent visits to their NC home by her stepson, Gavin D. Sheets, 12, of Delray Beach.
Jana is survived by her dear soul mate – who loved and cared for her in her most difficult times – Eric Sheets; and her stepson, Gavin; and by her mother, Suzanne E. Fitzsimmons, Greensboro, NC; father, Jack Kelly, Boca Raton, FL; sister, Megan B. Kelly, NY, NY; brother, Brock Fitzsimmons, Port Charlotte, FL; stepmother, Carol Harris Kelly of Boca Raton, FL; stepsister, Jessica Harris, Orlando, FL, stepbrother, John Harris, Delray Beach, FL; and her two – “babies” – the Kitties – Roxy and Techno. Jana is also survived by her mother-in-law, Joyce Sheets, Boca Raton, FL; sister-in-law, Nikki Cook and husband, Corydon, and niece, Libby Cook of Weston, FL. Surviving relatives include more than three-score others including aunts, uncles, and cousins from Florida to New Hampshire, from New Jersey to California to Alaska. Jana was predeceased by her grandparents, Helen and Michael Kelly of Jersey City, NJ, and Beatrice and Joseph Wohlers of Harrington Park, NJ, and most recently, by her former stepfather, Lloyd Fitzsimmons, Port Charlotte, FL.
On behalf of Jana, her family wishes to express our deepest gratitude to all who took an interest in Jana’s health and happiness, and her work at the LGD Alliance. Special gratitude is given to Robert Cady, MD, Tim Damron, MD, both of Syracuse NY, Scott Palmer, MD, Tracy Holland, RN, R. Duane Davis, MD, and Jerry Eu, MD, of the Lung Transplant Team at Duke University Medical Center, the entire therapy staff at the Duke Center For Living, Chrissy & Gale – Duke Home Hospice team, the medical, nursing, critical care and therapy staffs at DUMC, Rev. Todd & Laura Maberry, close friends of Jana – Amber, Suzanne, Heather, Kristine, Dr. Laura, Teresa, Dave Cece, Ann Monthei and the many other friends and family who were such loving friends to Jana & Eric through good and hard times. We remember fondly, also, pal and friend of Jana’s, the late Onjo Stevens. Special thanks to the VAC clinical teams at Children’s Hospital Boston, Cincinnati Children’s, and Wisconsin Children’s. We wish to express very special thanks to a person who wishes to remain anonymous – a very honored friend of many years who has been Jana’s angel. Please know that everyone of you are dear in our hearts and will remain there eternally.
A celebration of Jana’s life and work will be held at Duke Gardens, Durham, NC, at 2:00 p.m. Saturday, January 16, 2010. Dress is casual. Further information on the location is at www.hr.duke.edu/dukegardens. All who touched Jana’s life are invited. No flowers, please. Jana has suggested that anyone wishing to honor her life and her work may make a gift to the LGD Alliance, 19919 Villa Lante Place, Boca Raton, FL 33434.
CLINICAL TRIAL FOR COMPLICATED VASCULAR ANOMALIES – CINCINNATI CHILDREN’S HOSPITAL
Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies
An FDA funded Phase 2 Study – Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies is being sponsored by Cincinnati Children’s Hospital Medical Center. The ClinicalTrials.gov identifier for this study is NCT00975819. Eligibility of conditions – including lymphatic malformations (lymphangiomatosis) may be reviewed in the description of the Phase 2 Clinical Trial.
Those interested in further information about the study please visit: http://clinicaltrials.gov/ Enter in the search bar “Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies”. There, you can find detailed information about the study including a detailed description, eligibility requirements, research location, and full contact information. The primary study contacts are Matthew B. Allen, Clinical Research Coordinator and Mary Sue Wentzel, RN. Principal Investigator is Denise M. Adams, MD, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio.
Cincinnati Children’s Hospital Medical Center has a Hemangioma and Vascular Malformations Center (HVMC) which has treated and/or consulted in cases of patients with lymphangiomatosis & Gorham’s disease.
U.S. AND EUROPEAN RARE DISEASE ORGANIZATIONS SIGN STRATEGIC ALLIANCE
NORD Press Release
Danbury, CT. —– The leading advocacy groups for Americans and Europeans with rare diseases—the National Organization for Rare Disorders (NORD) and the European Organization for Rare Diseases (EURORDIS)—have signed a Memorandum of Understanding to join forces on several key strategic initiatives on behalf of rare disease patients and their families.
The intent is to increase global awareness, promote research and the development of new treatments, and provide advocacy for more compassionate public policies.
“Collaboration between our two organizations will make both stronger and more effective in representing our constituents,” said Peter L. Saltonstall, President and CEO of NORD. “Since patients with rare diseases may be located anywhere in the world, international collaboration to support and advance their needs is extremely important. This strategic partnership will help us address issues and challenges that are essentially the same on both sides of the ocean.”
Yann Le Cam, Chief Executive Officer of EURORDIS, noted that “EURORDIS and NORD are in a unique position to promote solidarity between Europe and the US and help bridge the gap between those regions of the world that have progressed more than others in their strategies to address the needs of people living with rare diseases. We can be key facilitators to promote the common interest of people with rare diseases and to empower patient advocates all over the world.”
As part of their strategic partnership, EURORDIS and NORD will:
Co-organize an annual global Rare Disease Day
Establish common positions on key advocacy priorities
Play a pivotal role in the International Conferences for Rare Diseases and Orphan Drugs (ICORD) to help expand the rare disease movement
Collaborate in the development of international web media and social networking information and communication services
Implement an international mentoring project for rare disease patient organizations
Coordinate more closely activities to enhance relations with the pharmaceutical and biotechnology industry
EURORDIS and NORD will kick off their collaboration with a joint public policy advocacy blog and shared online communities.
This collaboration among patient advocacy leaders mirrors other recent developments. The U.S. Food and Drug Administration (FDA) and its counterpart in Europe, the European Medicines Agency (EMEA), have announced a collaborative effort to ensure appropriate conduct of clinical trials. The two agencies have also adopted a common application for “orphan” products—products being developed as treatments for rare diseases.
A disease is considered rare in the U.S. if it affects fewer than 200,000 Americans. Almost 30 million or nearly one in 10 Americans have rare diseases. In the European Union, a disease is considered rare if it affects fewer than one in 2,000 people. There are 30 million Europeans with rare diseases.
NORD, established in 1983, and EURORDIS, founded in 1997, are both non-governmental, patient-driven alliances of patient organizations and individuals dedicated to improving the lives of people with rare diseases. The NORD website is at www.rarediseases.org. The EURORDIS website is at www.eurordis.org.
(203) 744-0100 (office) or (203) 482-9934 (cell)
October 1, 2009
LGD ALLIANCE CONDUCTS FIRST FUNDRAISING EVENT. HOPES TO INSPIRE OTHERS TO RUN LOCAL EVENTS TO SUPPORT RESEARCH.
Boca Raton, Florida. August 29, 2009. With the help of a local Pub in Boca Raton, FL, the Lymphangiomatosis & Gorham’s Disease Alliance (LGD Alliance) ran its first organized fundraiser to raise money to support its new research program. The Co-ordinator of the event, Pam Kalin, proprietor of a local Palm Beach County paving company, presented the proceeds of $1528 to Jack Kelly, president of the Lymphangiomatosis & Gorham’s Disease Alliance.
The event was organized just a few weeks ago. With the help of a small volunteer committee, gifts and gift certificates were obtained from several local business and individuals in west Boca. A giant sign was also donated to promote the affair. The team sold raffle tickets for the donated gifts and a cash prize drawing – which the winner donated back to the Alliance! Food was provided by local friends and patrons of the Pub – Moon’s Tavern, owned by Bob & Rose Mooney of Boca Raton.
This was a historic event indeed – our first public event to raise money to help fund the research to study the rare diseases – lymphangiomatosis & Gorham’s disease” , said Mr. Kelly. “In starting out, we have been very fortunate in having gifts from our Board members, and a significant gift in honor of our Founder, Jana Sheets. This has enabled us to fulfill key elements of the first part of our mission: – providing patient support via a new website; establishing a first-ever directory of Doctors Around the World (DAW’s) – enrolling doctors who can treat patients of these orphan diseases; attending medical conferences and workshops to promote awareness among the medical/scientific community; and, participating as a member or attendee in such medical & rare disease associations and conferences, such as the Rare Bone Disease Patient Network, the American Thoracic Society International Conference, the International Society for the Study of Vascular Anomalies, the Orthopaedic Research Society, the National Organization for Rare Disorders, the Genetic Alliance, and the Lymphatic Research Foundation”, Mr. Kelly explained.
“We are focused now on the second pillar – raising funds to support our research objective to identify the disease factors of ly
mphangiomatosis and Gorham’s disease. Our friends in the community have shown extraordinary support for the Alliance as we take the first steps to find the causes”, said Mr. Kelly. “And, we are hopeful that other community-supported fundraisers will be held to help us build a sufficient fund to award funding for research projects that will bring us closer to developing life-saving treatments for lymphangiomatosis and Gorham’s disease”, he added.
LGD ALLIANCE IN THE NEWS
The LGD Alliance was featured for the second time in just a short few days.
In connection with the continuing promotion of the TV episode on lymphangiomatosis in the recent Mystery Diagnosis program on Discovery Health Channel, our Founder, Jana K. Sheets, of Bahama, North Carolina, was portrayed in an excellent feature report in the Raleigh-Durham newspaper – THE NEWS&OBSERVER. Following is the complete story. We are very grateful to Sarah Avery, Staff Reporter of the NEWS&OBSERVER, for producing this excellent article.
Shining a light on her own rare disease
, Staff Writer
BAHAMA – A lifetime of battling illness was one thing, but Jana Sheets had grown tired of fighting obscurity.
Everywhere she went, Sheets was the first patient doctors had ever seen with her disease — an extraordinarily rare abnormality of the lymph system called lymphangiomatosis. It causes a proliferation of cysts that damage bones and organs, often fatally.
There were no treatments. No research programs. No fun runs to raise money and awareness. “They don’t even know how many people have it,” she said.
But today, she will celebrate a bit of notice for her disease when it is featured in an episode of “Mystery Diagnosis” on the Discovery Health channel — attention that comes in no small part because of Sheets’ work.
A wispy 95 pounds and tethered to an oxygen tank at her home outside Durham, Sheets founded the Lymphangiomatosis & Gorham’s Disease Alliance, which offers support and guidance to people who have the disease. Since she launched the Web site two years ago, more than 230 people have contacted her from around the world, all desperate for her help finding a doctor, a hospital, a researcher.
So when the producers of “Mystery Diagnosis” decided to feature the illness on their show, they contacted Sheets, who readily recommended an 11-year-old girl in Wisconsin as the program’s subject.
“I was so excited,” Sheets said. “Maybe someone will see it and be interested in doing research.”
For so-called orphan diseases, securing research dollars is the Holy Grail. Because so few people suffer from such illnesses — by definition, a disease is rare if it afflicts fewer than 200,000 Americans — researchers and drug companies are loath to study them. The market for potential therapies is considered too small to justify the research investment. It’s a boon to get a bit of limelight on programs such as “Mystery Diagnosis,” “Grey’s Anatomy” or “House,” said Mary Dunkle, vice president of communications for the National Organization for Rare Disorders.
“I think those shows do a lot of good to get these diseases out there and raise awareness,” Dunkle said. “People don’t realize how many are affected. One in 10 Americans has a rare disease. That’s a lot of us.”
And there are a lot of rare diseases to choose from — more than 6,000.
Alon Orstein, executive producer of “Mystery Diagnosis,” said his program explores the universal struggle people go through when they need to know what’s wrong with them.
“That’s a big thread in the show,” Orstein said, noting that many who have rare diseases are initially misdiagnosed, leading to potentially harmful treatments.
For the lymphangiomatosis episode, he said, program officials contacted Sheets to find a patient with a compelling story. She referred them to Claire Mantey, 11, of Green Bay, who had been misdiagnosed for several years until escalating symptoms finally compelled a different conclusion.
It’s a story Sheets herself could have told, but her case went back too far for the program’s researchers to recreate. At 35, Sheets is one of the oldest survivors of her illness.
She has battled the disease since she broke her leg at the age of 6, and doctors later discovered cysts filled with lymph in many bones and later in her lungs. The cysts grow unchecked and clog normal function, leading to organ failure and death.
Doctors have few remedies. Five years ago, Sheets had the first-ever lung transplant for her illness at Duke Hospital, and moved to the Triangle to continue her care.
Now, however, she has no further options, and her lungs are failing. She was urged to contact hospice but has resisted. “I haven’t given up,” she said.
Instead, she said, she’ll work as long as she can bring attention to the disease that will likely kill her and however many others, unknown and uncounted, who suffer.
email@example.com or 919-829-4882
PALM BEACH POST – FLORIDA- LGD ALLIANCE STORY
Woman battles rare disease, tries to help others
Palm Beach Post Staff Writer
Thursday, August 20, 2009
Lymphangiomatosis. If the word looks foreign to you, you’re not alone. Many doctors don’t even know what it is, nor have they agreed upon a simple definition.
But for suburban Boca Raton resident Jack Kelly and his 35-year-old daughter, Jana Sheets, this rare disease has consumed their lives. Sheets broke her leg in the same place twice as a young child, which led to some raised eyebrows and extensive testing. But it took doctors five years to settle on a diagnosis of lymphangiomatosis – a rare disease in which many tumors or cysts grow in the lymphatic system of the body. It often affects infants and children, most of whom don’t reach the age of 20, Kelly said.
The family immediately began researching the disease, only to find that there wasn’t much information out there.
Before one of Sheets’ many operations, Kelly remembers a doctor saying to his daughter, “You know more about your disease than I do.”
In the mid-’90s, Sheets moved to Delray Beach while she was recovering from an arm surgery related to the disease.
“I just absolutely fell in love with the area,” she said.
She got a job in retail and spent her weekends at the beach. She was managing with her disease until fluid began to accumulate between the lining of her lungs and chest wall. From there, her lungs began to fail.
In August 2003, she married her husband, Eric, and by December, she found out she was accepted as a double lung transplant patient at Duke University Medical Center.
They moved to North Carolina to be near the hospital, and in May 2004, doctors performed the surgery. Sheets was the first documented double lung transplant patient with lymphangiomatosis.
During her lengthy recovery, she met other transplant patients, mostly who suffered from cystic fibrosis, and she saw the amount of support they got from outside organizations. It was then that she began reaching out to others with her disease to try to create a similar support network.
In July 2007, she founded the not-for-profit Lymphangiomatosis and Gorham’s Disease Alliance. Although the transplant has left her weak and tired and she must be on oxygen 24/7, her work for the organization has kept her going, along with the support of her family.
Her father is retired and spends his days doing what he can as president of the organization. He attends medical conferences, takes continuing education classes and is constantly doing some type of research.
“I’m sometimes mistaken for a doctor,” he said.
With hit shows like House and Grey’s Anatomy, many rare medical conditions are getting some time in the spotlight. That day has come for lymphangiomatosis. The disease is being featured on Monday night’s episode of Mystery Diagnosis on the Discovery Health Channel.
“It’s a major accomplishment,” Kelly said. “It’s hard to get interest in the disease, but this might help.”
Sheets said it’s a step in the right direction, although they have a long way to go.
“We’re trying to make sure that no other patients have to go through living life the way I had to, with no information,” she said.
LYMPHANGIOMATOSIS TO BE FEATURED ON DISCOVERY HEALTH CHANNEL’S AWARD-WINNING PROGRAM MYSTERY DIAGNOSIS!
On August 24th, 2009 at 10:00 p.m. (EST), Discovery Health Channel’s award-winning program “Mystery Diagnosis” will feature the story of Green Bay, Wisconsin child; Claire Mantey and her family while they struggle to find a diagnosis for her rare health condition – lymphangiomatosis.
“The Lymphangiomatosis & Gorham’s Disease Alliance (LGD Alliance) is grateful to Claire Mantey, her family, and the doctors, nurses, and support staff at Children’s Hospital of Wisconsin in Milwaukee who came together to re-create Claire’s story. The episode of “Mystery Diagnosis” will bring lymphangiomatosis into the media spotlight for the first time ever and hopefully educate viewers about this rare condition. Families reach out to us weekly out of desperation for fear of the unknown and due to their inability to find doctors and overall support. This is so important to broadening the knowledge base of the medical community and educating families affected by this orphan disease” said Jack Kelly, President of the LGD Alliance.
Lymphangiomatosis is a multi-system disorder characterized by a proliferation of complex, irregular channels in the lymphatic system infiltrating soft tissue, vital organs and bone. It usually presents itself during childhood making it primarily a pediatric condition, but adults are affected too. It is so rare that the number of people affected is not known. There are no evidence-based guidelines for any treatments, and to date, there have been no clinical studies.
Discovery Health’s “Mystery Diagnosis” chronicles the experience of patients who suffer from conditions outside the medical mainstream. Each episode features patients who are initially misdiagnosed or undiagnosed altogether due to the uncommon nature of their symptoms and general lack of awareness regarding their conditions. This popular series – in its seventh season on Discovery Health – profiles the strength and courage of heroic patients and determined medical practioners as they struggle to make sense of baffling conditions.
Check your local cable television listing to locate the Discovery Health Channel in your community.
To learn more about lymphangiomatosis, please contact Jack Kelly, President of the LGD Alliance firstname.lastname@example.org
To learn more about this episode of “Mystery Diagnosis” or Discovery Health Channel, contact: Katie Crockett, 240-662-2707 -or- Katie_Crockett@discovery.com
# # #
Founded in 2007, the LGD Alliance is a nonprofit 501(c) 3 organization serving people with lymphangiomatosis and Gorham’s disease through information, advocacy, and support. Our mission is to improve the care of patients with lymphangiomatosis and Gorham’s disease by promoting research that will identify effective treatments and ultimately a cure for these diseases. For more information, visit www.lgdalliance.org
LGD ALLIANCE RECEIVES $30,000 ANONYMOUS GIFT!
The Lymphangiomatosis & Gorham’s Disease Alliance, Inc. (LGD Alliance) has announced that it has recently received a $30,000 gift – the largest donation ever received by the newly-formed rare lymphatic & bone disease foundation. The gift was made by a benefactor who wishes to remain anonymous.
“We are deeply grateful to this very special friend of the LGD Alliance,” said Jack Kelly, president of the foundation. “To our knowledge, this is the largest donation ever made in support of furthering patient and medical/scientific community education and understanding of lymphangiomatosis & Gorham’s disease since the diseases were first described more than a half-century ago. This gift is such a tremendous help to the mission of the LGD Alliance,” Mr. Kelly said.
“To date, we’ve been focused on developing areas that will further patient support for our growing world-wide community. This began with the creation and launch of the website with a functional patient discussion forum, the development of a Doctors Around the World (DAW’s) directory, and a patient database. We’re now working to develop a network of multi-disciplinary diagnostic evaluation and treatment centers – modeled after our primary case-referral center – the Vascular Anomalies Center (VAC) in the Children’s Hospital Boston at Harvard. We work hard to respond to every inquiry whether it be a patient, caregiver, or medical professional.” explained Jana Sheets, Founder & Director of Patient Support.
The LGD Alliance is a total-volunteer organization which provides patient support for its rare disease community and is currently developing its research plan to study the natural history of these two closely-related diseases. Lymphangiomatosis and Gorham’s disease can affect someone of any age, but mostly affect children and young adults – with potentially life-threatening outcomes. The research program will be aimed at identifying the errant genetic factors and discovering the molecular mechanisms and pathways of the disorders. “This very generous anonymous gift is so important in helping us begin to address a patient registry and research program – both so vital to attract investigators to begin to search for the long dreamed-for treatments and cures,” added Mr. Kelly.
“Speaking for the worldwide community of patients and their families, we say, thank you, dear friend. Your help gives us hope !” Mr. Kelly said.
RARE BONE DISEASE PATIENT NETWORK (RBDPN) PUBLISHES REPORT OF FIRST-EVER RARE BONE DISEASES SCIENTIFIC CONFERENCE.
In the last quarter of 2008, the RBDPN achieved a major milestone in convening for the first time a gathering of scientists, clinical-researchers, senior leaders of the National Institutes of Health (NIH) and the FDA, representatives of industry, and rare bone disease foundation executives and patients. Full information of this inaugural meeting and the report by the conference Co-Chairs, Michael Econs, MD and Craig Langman, MD entitled: A Synopsis of the 1st Advanced in Rare Bone Diseases Scientific Conference, is available at http://www.usbjd.org/rd?1stAdvancesConference.
A presentation of behalf of the LGD Alliance, entitled: Gorham’s Disease and Related Vascular and Lymphatic Disorders of Bone and Soft Tissue was made by LGD Alliance Medical Advisory Council Member, John D. Reith, MD, Associate Professor, Director, Unit of Bone and Soft Tissue Pathology, Departments of Pathology, Immunology, and Laboratory Medicine & Orthopaedics and Rehabilitation, University of Florida College of Medicine, Gainesville, Florida.
Abstract 25 – Gorham’s Disease and Related Vascular and Lymphatic Disorders of Bone and Soft Tissue
John D. Reith, MD
Associate Professor, Director, Unit of Bone and Soft Tissue Pathology, Departments of Pathology, Immunology, and Laboratory Medicine & Orthopaedics and Rehabilitation University of Florida College of Medicine, Gainesville, Florida Lymphagiomatosis and angiomatosis involving bone and soft tissue, with or without concomitant visceral disease, are rare conditions. Gorham’s disease, classified as an aggressive form of skeletal angiomatosis associated with progressive skeletal resorption, is extremely rare. Since the definitive descriptions of this entity by Gorham and Stout in the 1950’s, fewer than 200 cases have been reported in the literature, the vast majority as individual case reports. Gorham’s disease can affect patients of all ages, and can arise in virtually any bone. Affected patients often present with pain, sometimes following a traumatic event. The diagnosis of Gorham’s disease is usually straightforward for radiologists and pathologists familiar with the entity. Radiographically, affected bones show marked resorption, often resulting in a “licked stick of candy” appearance. The diagnosis is confirmed by correlating the radiographic appearance with the histologic finding of a benign vascular or lymphatic proliferation replacing the bone. Medical treatment for Gorham’s disease has included radiotherapy, interferon, and bisphosphonates. However, surgical intervention is often necessary for stabilization of large bone defects. With early treatment, the risk of morbidity and mortality is usually low; however, patients can die from involvement of viscera, spinal cord, or thoracic duct. The etiology and pathogenesis of Gorham’s disease is poorly understood, and the role of osteoclasts in this disorder is unclear. Common to all cases is the prominent angiolymphatic proliferation, but it is not clear whether this is the primary inciting factor or a secondary phenomenon. In some cases, a marked increase in osteoclastic activity is evident at the interface between the angiolymphatic proliferation and cortical or cancellous bone. Even though increased osteoclastic activity is not always identified histologically, bisphosphonates appear to be effective in limiting the massive resorption in patients with Gorham’s disease. Studies on the cellular and humoral mechanisms leading to bone resorption in Gorham’s disease suggest that IL-6 and VEGF play a central role in pathogenesis. The purpose of this presentation is to introduce the clinical, radiographic, and pathologic features of Gorham’s disease and related disorders of bone and soft tissue, as well as current treatment recommendations. Current theories on pathogenesis will also be discussed.
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LGD ALLIANCE PRESIDENT NAMED CO-CHAIR OF RARE BONE DISEASE PATIENT NETWORK.
The Rare Bone Disease Patient Network, (RBDPN) a coalition of rare bone disease organizations formed under the auspices of the United States Bone and Joint Decade (USBJD) has named as incoming Co-Chairs of the Network for 2009-2010, Jack Kelly, President of the Lymphangiomatosis & Gorham’s Disease Alliance, and Joanne Joseph, Vice President of the XLH Network. In addition to the Lymphangiomatosis & Gorham’s Disease Alliance and the XLH Network, members of the RBDPN include: Fibrous Dysplasia Foundation, International Fibrodysplasia Ossificans Progressiva Association, International Osteopetrosis Association, Melorheostosis Association, MHE Research Foundation, Osteogenesis Imperfecta Foundation, and the Paget Foundation. The RBDPN’s mission is to share information, expertise and resources, in a collaborative effort, to increase awareness, understanding, and research of rare bone disorders.
RARE DISEASE DAY – FEBRUARY 28, 2009
To raise awareness of rare diseases and the need for safe, effective treatments, people around the world will join together to observe the 2nd Annual Rare Disease Day on the last day of February (Feb. 28, 2009). NORD is coordinating this project in the U.S., and is inviting all patient organizations, caregivers, researchers, and companies developing orphan products to join in this observance. The purpose is to focus attention on rare diseases, the challenges encountered by those affected, and the importance of research to develop diagnostics and treatments.
The 1st Rare Disease Day was organized in Europe last year by EURORDIS, the European Rare Disease Organization. It was very successful, with many political leaders and members of
royal families helping to draw attention to the activities. This year is the first time for Rare Disease Day to be observed in the U.S. The hope is that this will become an annual global event on the last day of February.
There are many things you can do to participate in this worldwide awareness push – such as writing your Governor and state and local representatives and urging them to support our efforts by officially proclaiming the last day of February as Rare Diseases Day.
For more information Click Here to visit the NORD Rare Disease Day website.
LYMPHANGIOMATOSIS & GORHAM’S DISEASE ALLIANCE BOARD MEMBER, SONIA J. HERBERT-BRANDE DIES
Sonia J. Herbert-Brande
Founding Member, Board of Directors
It is with great sadness that we announce the death of our esteemed friend and dedicated Member of the Board of Directors of the Lymphangiomatosis & Gorham’s Disease Alliance, Sonia Herbert-Brande, RN, MSN. Sonia, 52, suffered from Gorham’s disease. She was married to Tim Brande, was the mother of 4 children, and had one grandchild. On behalf of the worldwide community of lymphangiomatosis and Gorham’s disease, the Board of Directors and our Founder, Jana Sheets wish to express our deepest sympathy to Sonia’s entire family on the loss of their dear family member.
Sonia Herbert-Brande was a Distinguished Founding Board Member of the Lymphangiomatosis & Gorham’s Disease Alliance. Her expertise as a medical professional, and personal insight as a patient, contributed greatly to defining our mission and developing our objectives. She was a member of our Fund Raising Committee and, despite unceasing pain and disability from her illness of Gorham’s disease, never missed a Board meeting.
We are unable to adequately express how truly sorry we are at Sonia’s passing. We could never quite fully express our sincerest appreciation and gratitude for the work and commitment Sonia extended to the Lymphangiomatosis & Gorham’s Disease Alliance. After her first priority – her family, Sonia gave her time, under tremendous debilitation, to the cause of improving the lives of patients – most often children and young adults, with Gorham and lymphangiomatosis. Her final gift was to donate bone tissue to advance the research we are desperately working towards funding in order to find the cause. We are so very grateful to all who have been so kind in making a donation to the LGD Alliance honoring the memory of our special friend and crusader, Sonia Herbert-Brande.
For the Board of Directors
Jack Kelly, President
Lymphangiomatosis & Gorham’s Disease Alliance
LYMPHANGIOMATOSIS & GORHAM’S DISEASE ALLIANCE RECEIVES IRS DEPARTMENT OF TREASURY CERTIFICATION LETTER FOR 501 (C)(3) STATUS
We are pleased to announce that the Lymphangiomatosis & Gorham’s Disease Alliance has received its Certification Letter from the U.S. Department of Treasury, Internal Revenue Service as an approved 501 (c)(3) public charity. Effective immediately, with this Letter, friends of the LGD Alliance will qualify under the IRS Code for tax deductibility for all donations made to advance the mission of finding treatments and cures for the often devastating disorders – lymphangiomatosis & Gorham’s disease.
“Completing this certification phase and receiving the 501 (c)(3) status Letter enables the Alliance to begin fundraising efforts in earnest in order to extend our patient support programs, to establish a patient data/tissue repository, and to begin the first efforts in studying the causes of these serious diseases which always threaten to shorten the lives of those afflicted”, said Jack Kelly, president of the Alliance.
“Lymphangiomatosis and Gorham’s disease affect mostly very young children and young adults”, said Sandy Goldfarb, VP of the Alliance. “This is a big step on the difficult journey for their dreamed-for cures”, she added.
FIRST-EVER ADVANCES IN RARE BONE DISEASES CONFERENCE ORGANIZED BY RARE BONE DISEASE PATIENT NETWORK/US BONE AND JOINT DECADE
As a member of the Rare Bone Disease Patient Network (RBDPN), the Lymphangiomatosis & Gorham’s Disease Alliance is pleased to announce that we have been invited to participate in the recently announced 1st Advances in Rare Bone Diseases Conference to be held at the facility of the National Institutes of Health (NIH) in Bethesda, MD, October 22nd – October 24th 2008.
Under the auspices of the U.S. Bone and Joint Decade (USBJD), the RBN-planned conference, will bring together for the first time, professionals in science and medicine who have an interest in rare bone diseases, to exchange scientific and clinical information, to develop new collaborations, and to propose a future research agenda for rare bone diseases. The conference is being co-chaired by Craig Langman, MD, Feinberg School of Medicine, Northwestern University, and Michael Econs, MD, Indiana School of Medicine. Lead participant for the Lymphangiomatosis & Gorham’s Disease Alliance will be John Reith, MD, University of Florida College of Medicine.
“This is a major step on the path to discovering the causes of lymphangiomatosis and Gorham’s disease; we are very excited about this development in rare disease science”, expressed Jack Kelly, president of the Lymphangiomatosis & Gorham’s Disease Alliance. “This is the first event anywhere in science or medicine, that we are aware of, which has expressed an interest in helping to define the factors which appear in the disease state of these orphan diseases.”, said Jana Sheets, Founder of the Alliance. “It is a significant milestone for our growing community of patients.” she added.
LYMPHANGIOMATOSIS & GORHAM’S DISEASE ALLIANCE JOINS RARE BONE DISEASE PATIENT NETWORK
It is a distinct pleasure to announce that The Lymphangiomatosis & Gorham’s Disease Alliance has been accepted as a member of the Rare Bone Disease Patient Network (RBDPN), a coalition of rare bone disease organizations, established under the auspices of the U. S. Bone and Joint Decade (USBJD).
The USBJD is a global, multi-disciplinary initiative targeting the care of patients with musculoskeletal conditions – bone and joint disorders. The RBDPN is a coalition of bone disease organizations to advance the goals of the USBJD which are to improve the quality of life for patients with these disorders by advancing the knowledge and understanding of these diseases through education and research. The Network was formed so that rare bone disease organizations can pursue together their common objectives, such as joint bone-related projects, awareness and advocacy, knowledge-sharing, and integration into the larger bone community.
“Our membership in the RBDPN is very important to our foundation as we begin the very essential and critical task of defining the disease-attributes, and as we start the search for the causes of lymphangiomatosis/Gorham’s disease, explained Jack Kelly, president of the LGD Alliance”. “We expect to work closely with all the other members of this rare bone consortium”, he added
THE LYMPHATIC RESEARCH FOUNDATION OFFERS OPPORTUNITIES FOR JUNIOR INVESTIGATORS & POST DOCTORAL FELLOWS
THE NIH IS SOLICITING GRANT APPLICATIONS TO INVESTIGATE THE BIOLOGY OF THE LYMPHATIC SYSTEM AND POTENTIAL NEW THERAPEUTIC IMPLICATIONS