Congressman Ted Deutch

Washington D.C.—Recognizing that many patients either have no treatments available for their rare diseases or are using older therapies not designed for their disease and the need to update the Food and Drug Administrations decades-old Accelerated Approval regulation, Congressmen Cliff Stearns and Edolphus Towns on March 5, 2012, introduced House Resolution (H.R.) 4132, the bi-partisan bill known as the Faster Access to Specialized Treatments (FAST) Act. Passage of this legislation would modernize and expand the FDA’s Accelerated Approval regulation to encompass a broader range of diseases, speeding the approval of new and novel therapies for rare diseases, while ensuring that the FDA’s high standard for approval is maintained, thereby protecting patients while allowing them access to new and novel treatments for serious or life-threatening diseases. The bill currently is under review by the House Committee on Energy and Commerce.

We encourage you to write to your representative in Congress, especially if he/she is a member of the House Committee on Energy and Commerce and ask him/her to support HR 4132. You can find a sample letter below. If you aren’t sure who is your representative in Congress go here, enter your zip code, and you will be taken to a page with information about and the link to your representative’s official page. This legislation is important to speed the process of making new and innovative treatments available to patients within the LGDA community. The more members of Congress who support the bill, the more likely it will be passed. So, please write today.

The LGDA thanks Congressman Ted Deutch of Florida for joining as a co-sponsor of the bill and encouraging the whole Florida delegation to do the same. Congressman Deutch represents Florida’s 19th Congressional District wherein the Lymphangiomatosis and Gorham’s Disease Alliance is incorporated.

Sample Letter:

Date

The Honorable ____________________
U.S. House of Representatives
Washington, DC 20515

Dear Congress(man/woman)____________________,

As a voting constituent in your area dealing with a rare disease for which there currently is no effective treatment and no cure, I am writing to ask you to support H.R. 4132, the FAST Act. This bill modernizes the FDA’s Accelerated Approval rule and provides for speeding the approval of new and novel therapies, while ensuring that the FDA’s high standard for approval is maintained, thereby protecting patients while allowing them access to new and novel treatments for serious or life-threatening diseases. The bill currently is under review by the House Committee on Energy and Commerce.

The course and prognosis of Lymphangiomatosis and Gorham’s Disease are very difficult to predict because there have never been any studies done to analyze these mysterious conditions. Cases vary from person to person and there is no recognized standard diagnostic measure or treatment for physicians to use. In severe cases, the fatality rate is high and in others the quality of life can be greatly affected by a life-time of doctor’s appointments, chronic pain, and even deformity. Our children are those hardest hit by this disease. It happens that the most severe form generally begins at a very young age giving children little hope for chance at a good life and even survival. Passage of the FAST Act will help in the search for treatments and a cure for these diseases and save lives. Again, I ask you to support the FAST Act.

Thank you for your time.

Sincerely,

____________________

For the first time lymphangiomatosis and Gorham’s disease will be featured at the Forum. During the morning session, “Meet the Expert,” Debra Boyer, MD, will meet with patients/families to discuss the latest in research, clinical trials, and clinical care of patients of all ages with lymphangiomatosis and Gorham’s disease. Dr. Boyer is an Assistant Professor of Pediatrics at Harvard Medical School and a member of the Children’s Hospital Boston Vascular Anomalies Center, which has perhaps the greatest experience with lymphangiomatosis and Gorham’s disease. A large portion of the LGDA patient community has received or is currently receiving treatment at CHB. We are grateful to Dr. Boyer for giving her time to meet with patients and families during this conference. The afternoon session will consist of a panel discussion with prominent pulmonologists on quality of life, lung transplant, and other issues affecting patients and families living with diseases that involve the lungs.

There is no charge for patients and their families to attend the Forum, but reservations are required. Valet parking is complimentary and lunch will be provided following the morning session, with refreshments for the afternoon session. If you would like to attend, please send an email with the names of those planning to attend to Channels@LGDAlliance.org no later than Thursday, May 3, 2012, so we can provide the organizers with our reservation information by the May 4 deadline.

In addition to the Patient-Family Forum, the LGDA will be hosting an information and display booth in the main exhibit hall, Booth #1440. The President of our Board of Directors, Jack Kelly, will be manning the booth May 20-22 from 10:00 a.m. until 4:00 p.m., sharing information about lymphangiomatosis and Gorham’s disease and the LGDA with conference attendees from all over the world–13,000 people from 95 countries attended last year’s Conference! Jack also will be attending the Patient-Family Forum on May 19 and is looking forward to meeting all of you who attend.

The ATS International Conference is one of the largest gatherings of pulmonary, critical care and sleep clinicians and researchers in the world. As a member of the ATS Public Advisory Roundtable, the LGDA is pleased to participate in this Conference each year in order to bring attention to lymphangiomatosis and Gorham’s disease. One of the most serious manifestations of lymphangiomatosis and Gorham’s disease is lung involvement and because of the LGDA’s membership in the ATS-PAR pulmonologists from around the world are learning about these diseases and how they effect the lungs.

We hope you will be able to join us this year for the Patient and Family Forum. We’ll see you there!

Exhibit tables representing some of more than a dozen orphan diseases.

The LGDA and the Orthopaedic & Sports Medicine Institute at the University of Florida College of Medicine & Shands Hospital, Gainesville, FL, joined together to organize the 2^nd Annual Rare Disease Day event, comprised of an all day exhibit featuring information booths on rare bone diseases, including bone tumors. The event took place on Rare Disease Day, Wednesday, February 29, 2012, in the Grand Atrium of UF/Shands Hospital. Rare Disease Day is an international advocacy day conceived to raise awareness of rare diseases as a global health challenge and sponsored by National Organization for Rare Disorders (NORD) and Rare Diseases Europe (EURORDIS).

Dr. Reith and Kathy Boudreau of the Byrne Lab for Orphan Diseases Research

The inaugural UF/Shands exhibit on Rare Disease Day 2011 consisted of a single table that proved a great start at increasing awareness and providing information. “This year the interest has been tremendous,” reports John Reith, MD, Clinical Professor & Director of Bone and Soft Tissue Pathology, UF–Shands, primary organizer of the event. More than a dozen groups participated in the event, which featured information about lymphangiomatosis and Gorham’s disease and other rare diseases. Joining in organizing this year’s event is the Byrne Lab for Orphan Disease Research, which studies Pompe disease, Barth syndrome, and Duchenne and Becker muscular dystrophies, among others.

Dr Reith explains what is known about Gorham's disease w/Mom of recently diagnosed boy.

The exhibit was hosted by Dr. Reith, a founding member of the LGDA Medical Advisory Council; Kathy Boudreau, a member of the Byrne Lab; and Jack Kelly, LGDA President, assisted by a number of others from UF Shands.

This post was updated March 12, 2012.

Proceeds totaling about $18,000 went to the Lymphangiomatosis & Gorham’s Disease Alliance (LGDA) for research of these rare and debilitating diseases.

Nearly 60 golfers and 50 more dinner attendees enjoyed a fun day of golf, mingling, and participating in the silent auction and bucket raffle at Hon-E-Kor Golf Club. The outing offered about 80 prizes.

“I was honored and humbled to see so many people come together and support the LGDA and its mission to find a cure, especially given this was a first-time event. Our expectations were blown away,” said outing Co-Chair and Kewaskum alumnus Scot Wiesner.

A 1992 Kewaskum graduate, Wiesner has battled through these diseases since he was a child. Though Scot is forced to get around in a scooter, he considers himself fortunate to be alive and able to start a fundraising event to help others who suffer from the diseases. The chairman and founding member of the Board of Directors of the LGDA knows it’s likely too late to help his own symptoms.

“I’m in my late 30s. Some kids who get this disease don’t reach teenage years,” he said.

Lymphangiomatosis is characterized by overactive lymphatic vessels that invade the bone. They can progress to other bones and lead to deterioration of bone and tissue and vital organs.

Gorham’s disease is a musculoskeletal condition in which spontaneous, progressive deterioration of the bone occurs through abnormal lymphatic proliferation. This deterioration can cause weakness in bone structure to the point of easily breaking and even the disappearance of the bone entirely.

Lymphangiomatosis & Gorham’s disease are believed to be very closely related, pathologically.  Either disease attacks various and multiple parts of the body.   The cause is unknown, and there are no standards of care.

Though connected through the diseases, many of the outing’s attendees had never met before. Three of the attendees from across the state – ages 36, 13 and 2 – have at least one of the diseases, breaking a world record for most patients ever to be in one room at the same time. Some 300 people across the world are known to be afflicted.  Many more are believed to go un-diagnosed.

The diseases are so rare that 13-year-old Claire Mantey of Green Bay was once featured on the Discovery Channel’s “Mystery Diagnosis.”

“Like Scot, I was humbled by the passionate, compassionate and generous nature of the crowd,” said Mitch Maersch, event co-chair and longtime friend of Wiesner. “Beyond the money raised, new, lifelong friendships and support networks have now been formed. That’s just another benefit we didn’t necessarily predict during the months of planning, and it serves as another reason starting an annual get-together was so important.”

One evening highlight was a surprise $10,000 corporate sponsorship from Dash Financial Corporation that earned a roaring ovation from an already energized crowd.

“My hand was shaking. I could barely speak,” said Wiesner. “This will do immeasurable good in the world of research. This is one of many examples of the kind of character of people connected to the LGDA. It’s special and good-hearted people and organizations like Dash Financial Corp. who will someday help us find a cure.”

The LGDA was founded in 2007 as a 501(c)(3) nonprofit foundation in Florida by Jana Sheets. Jana has since passed away from the diseases but smiled on the outing, sending a rainbow through the cold and rain that brightened everyone’s day.

“Jana is smiling,” said Jana’s father, Jack Kelly, who made the trip from Florida for the event. “She would be proud to see the LGDA now has an annual fundraising and awareness mechanism that connects patients and forwards research.”

Plans are already under way to continue the outing next year.

To make a donation to the LGDA, click here.

All doctors and hospitals ask for much of the same information at your initial visit or when you seek treatment in an emergency room or urgent care center. Schools need similar information in order to act in the best interests of your child in the unlikely event of an emergency occurring while at school. Preparing it in advance benefits all involved, especially the patient. The information will run several pages, but you will have a complete history to hand over so you and the doctors and nurses can then focus on why you came to see them. The typed information will be easier to read and you will be confident that you have not left out something important.

Begin with the basics. On the first page list patient’s full name, date of birth, address, and telephone. Parents should then list their names and contact information. You should also provide contact information for at least one other person who will always know how to contact the patient’s primary caregiver. Next write the name and contact information of the patient’s primary care physician (family doctor or pediatrician). Copy all of the information from your insurance cards and make copies of the actual cards.

Next create a page listing all medications. On the first line type ALLERGIES and list all known food and drug allergies. Then list all the medications the patient takes. Include non-prescription medications, vitamins, and nutritional supplements. Take out all the medicine bottles and copy the information from the labels: medication name, dosage, frequency, and name of the doctor who prescribed it. Example:

furosemide 20mg – take one tablet by mouth 2 times every day – Dr Smith

Be sure to include medication infusions you go to the clinic or hospital to receive or are given to you by a home health nurse. If you have an infusion port like a PICC line, Hickman, or Port-A-Cath, write the type and location on your medication list. Supplemental oxygen is also a medication and should be included on this list, noting how many liters per minute and if you require mechanical support during sleep.

The next page will summarize the patient’s medical history. On this page make a list of conditions the patient has been diagnosed with, major illnesses, illnesses requiring hospitalization or ongoing care, and surgeries, including the dates and physician’s name and location, beginning with the most recent. Here is an example:

2007 January  – lymphangiomatosis – University Children’s Hospital/Dr. Smith

It is not necessary to include every doctor’s office visit in this summary, nor is it necessary to include illnesses such as strep throat and influenza unless they were serious enough to result in hospitalization. If the patient has many medical conditions and/or numerous surgeries, separate pages for the diagnosis list and surgery list may be helpful.

Now list all the tests done to diagnose and monitor the lymphangiomatosis/Gorham’s disease and any other major diagnosis, such as heart conditions or asthma. Be sure to include the area examined, where the test was done, and the name of the doctor who ordered the study:

2011 August – CT chest – City Children’s/Dr Brown

It is not necessary to include blood tests in this list. If the patient has a blood component that is abnormal on a regular basis, it is adequate to make a note something like this: white blood cell count usually below normal.

The final page will list the full names of all the doctors whose names appear in the file and how to contact them. Typing the names in BOLD CAPS makes it easier to scan the list for a given doctor.

These are the basics. This information should be updated each time your medication changes, you have a test or procedure done, or see a new doctor and you should keep a copy of it with you at all times. Print a fresh copy and take it with you to every doctor appointment. Also take copies to your child’s school and give one to the school office and one to the school nurse.

Now let’s talk a bit about how to store and share this information. Most new word processors enable you to save files in the pdf format to allow reading on any computer. There are a number of ways to store and share the file to ensure you can always access it:

• put a copy of it on a flash drive attached to your key ring
• sync a copy on your smart phone
• email a copy of the file to yourself so you will be able to access it from anywhere with a computer or smart phone
• upload the file to Google Docs so it can be accessed over the internet

Another effective way to store and share the information is to register with MedicAlert and wear the identification bracelet that is engraved with diagnosis, allergies, and a personal identification number along with their 24-hour hotline number. Emergency medical personnel look for these identification bracelets, then call in the ID number and MedicAlert sends the information in the file to the medical provider. For a small annual fee you get peace of mind that, as long as that bracelet is worn, any medical provider can access information about your medical history.

Madeline’s 9-year old brother Zachary was diagnosed with lymphangiomatosis when he was three.  Madeline has always been so proud of her brother’s strength and determination in dealing with his condition. Wanting to do something to try to help her younger brother, she talked with her close pal, Elle. Together they came up with an idea to raise money that they would donate to the LGDA, which Madeline calls “Zac’s Charity.” The girls decided to host a fashion show to raise awareness about Zachary’s disease and money to help LGDA in its mission to provide patient support and promote research programs to develop effective therapies to improve the well being of patients like Zachary.

Madeline and Elle started planning the show in late December 2009 and spent many months making necklaces, bracelets, tie-dyed scarves, belts, and other trinkets to sell at the fashion show fundraiser. Madeline’s parents recently hosted the event at their home in Barrington, IL. It was a great success, with more than 50 people attending.

Madeline and her friend Elle, who acted as co-chair of the event, eagerly counted the money and called the president of the LGDA to announce they had raised $3,385!

These young ladies truly are an inspiration! The LGD Alliance extends to them its heartfelt thanks and congratulations on a job well done. We also extend our sincerest thanks to those who attended this fundraiser for their generous contributions, which go to support the mission of the LGDA.

Led by the outstanding efforts of two members of the Medical Advisory Council of the LGDA—Denise M. Adams, MD, Medical Director, Hemangioma and Vascular Malformations Clinic at Cincinnati Children’s Hospital, and Steven J. Fishman, MD, Co-Director, Vascular Anomalies Center, Children’s Hospital Boston—the first Consensus Meeting on Lymphatic Anomalies was held at Children’s Hospital Boston on February 4, 2011.

Patients and professionals alike are painfully aware of the lack of standard diagnostic guidelines and classification systems for lymphatic malformations. Throughout the medical literature of the last half-century the rare lymphatic anomalies of lymphangiomatosis and Gorham’s disease have been known by such widely-variable names as disappearing, vanishing, or phantom bone disease; massive osteolysis; skeletal/extra-skeletal lymphangiomatosis; Gorham-Stout syndrome or Gorham lymphangiomatosis; cystic angiomatosis, microcystic lymphatic malformation, and more.  The purpose of this meeting was to begin to look for more consistent and accurate ways to describe and diagnose lymphatic malformations.

The inaugural Consensus Meeting had two primary goals:

• to define appropriate terminology for lymphatic anomalies based on available data and
• to begin discussion of specific diagnostic criteria and evaluation of risk for various complications of the conditions.

The observable characteristics of a disease, such a tumors in bone and fluid around lungs seen on x-rays and an extraordinary number of lymphatic vessels seen on a biopsy, are called the phenotype. A clear and consistent description of a disease’s phenotype is critical for both accurate diagnosis and the design of clinical trials that will hopefully lead to effective treatments. Further, the existence of consistent phenotype criteria helps to promote research that may lead to identification of the actual genetic code responsible for lymphatic diseases. This genetic code is called the genotype.

More than 20 specialists from the U.S. and Europe, representing 10 disciplines from 9 different institutions attended the Consensus Meeting. The day began with a review of the medical literature consisting of several hundred case reports in which the patients’ signs and symptoms were reported, followed by a lively discussion and debate. The work of the Consensus team is ongoing, but its leaders have expressed confidence that the framework for a classification system for these disorders has been constructed that eventually will be the basis of a standard system adopted by the scientific and clinical communities.

The conference was made possible by a grant to the LGDA by the Lymphatic Malformation Institute (LGI). Many thanks go to the LGI, Dr. Adams and Dr. Fishman, and all those who participated in this conference.

When their son Ethan was diagnosed with lymphangiomatosis in October 2009 at age 7 months, Nick and Kelly Moss were devastated. Once the shock wore off, they decided they had to do something to help their son and others living with this disease. On July 24, 2011, Nick set out on a 1500-mile military style walk across the United Kingdom to raise money and awareness.

The walk will take 6 weeks to complete, during which time Nick will be living out of a 50lb Burgan (a type of back pack), eating ration packs and camping. Kelly and their children—7 in all—will join Nick for some parts of the journey doing fundraising and publicity. In addition to raising awareness about lymphangiomatosis, they are trying to raise enough money to bring Ethan (the 6^th of their 7 children) to the United States for evaluation and possible treatment.

For more information about Nick and Kelly and their project, visit website http://walkforlymphangiomatosis.webeden.co.uk/ and see the story about their journey in the Western Daily Press.