The LGDA and the Orthopaedic & Sports Medicine Institute at the University of Florida College of Medicine & Shands Hospital, Gainesville, FL, have organized 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 will take 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).

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. As of this writing 10 tables have been reserved and will feature 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.

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

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.

The LGD Alliance is a proud CaringBridge Partner. Many members of our community have created a free CaringBridge page to help them keep in touch with friends and family as they deal with the challenges of living with lymphangiomatosis and Gorham’s disease.

CaringBridge’s free websites offer a personal and private space to communicate and show support, saving time and emotional energy when health matters most. The websites are easy to create and use. Authors add health updates and photos to share their story while visitors leave messages of love, hope and compassion in the guestbook.

In this post we’ve included links to information about how the test is performed. It is not a commonly performed test, but some in the LGDA community have had it done. Of course, these articles about the test make no mention of lymphangiomatosis or Gorham’s disease, but they do provide a good overview of what is involved in having the test done.

From Medline

From Answers.com

Do you ever wonder if they all talk to each other? If any of them ever communicate with one another? You may be shocked by the answer.

A study published in The Archives of Internal Medicine in January 2011 found that 69% of Primary Care Physicians (PCPs)—family doctors and pediatricians—said that they send information about a patient’s history and the reason for consultation to specialists “always” or “most of the time” while only 35% of specialists reported that they received this information “always” or “most of the time” from referring physicians. And the reverse isn’t much better, with 81% of specialists who participated in the survey reporting that they “always” or “most of the time” send consultation results to the referring PCP while only 62% of PCPs reported “always” or “most of the time” receiving consult reports from specialists.

After reading this study one might well conclude that the more doctors you see and the further the distance between them the greater the chance that they do not communicate effectively about your care. Not surprisingly, the authors of the study further found that “Physicians who did not receive timely communication regarding referrals and consultations were more likely to report that their ability to provide high-quality care was threatened.”

For patients in our community with lymphangiomatosis and Gorham’s disease and their parents this report confirms what many of us have long suspected:

We must take responsibility for making sure our information reaches all of the doctors involved in our care.

The way to assure the availability of those records is to be proactive in securing and organizing those records. You can’t realistically tote around every piece of paper generated by every doctor with whom you come in contact. Nor is that necessary. But you should make it a practice to obtain and share certain information. Fortunately today’s technology makes this task easier than ever before.

Find out who in you doctor’s office is responsible for keeping track of consults and reports and get to know that person. Some doctors will have a nurse who handles these matters while others will rely on a medical records clerk. This person can be your best ally in making sure information gets where it needs to go. Once you are an established patient with a specialist you may not need a referral from your primary care provider (PCP), so he or she won’t know you have an appointment with the specialist if you don’t let them know. So when you have an appointment with a specialist call the person who handles your medical records at your PCP’s office, tell her whom you are going to see, and ask her to send a copy of your most recent office visit notes and lab results to the specialist. Always ask the specialist when your PCP can expect to receive a consult report about your visit then follow up with your PCP’s office to find out if they received the report.

Besides improving communication among your doctors, there are two other reasons for keeping copies of your own records. First there is the issue of traveling for medical care that patients in our community deal with every day. Chances are you will not encounter any serious issues while traveling away from home. But having copies of your records can help should you find yourself needing emergency care while traveling. Second is the risk, though small, of the original records being lost to natural disasters and accidents. Even doctors’ offices and hospitals can suffer fire, flood, and tornado. The loss of records for a healthy person is complicated. For someone with a rare disease it can be devastating. Keeping copies of the most important records is no different than taking out an insurance policy on your house and car.

There are 5 basic types of records of which you need to have copies:

Radiology, Ultrasound, and Nuclear Medicine Tests

In most modern hospitals these studies are stored digitally on computers and placed on CDs or DVDs for easy transport to other hospitals and physicians. When you have testing done ask the technician how to get a copy of the test and report. Some systems can make a copy of the test immediately, but that will not include the radiologist’s report. You need both. So, if possible, go back to the hospital radiology department the following day and ask for your test on disc so the report is included. If you are traveling and cannot wait for the official report you can ask that it be mailed to you when it’s complete. If you or your child has been hospitalized in another city be sure to contact the medical records department before discharge to get discs with all the tests that were done during the hospital stay.

Tests you need copies of include CT, MRI, x-rays, ultrasounds, bone scans, bone density tests, angiograms, arteriograms, lymphangiograms, and PET scans. The reason you need copies of these studies is that often specialists want to see the pictures for themselves and you don’t want to travel several hundred miles (or even across town) only to find the discs were not sent or did not arrive and the doctor you waited weeks, if not months, to see does not have the information needed for a thorough review of your case.

When possible have all studies done at the same facility. This has a number of advantages. The same group of radiologists will evaluate the tests. All the films and reports will be located in one place and you can go periodically and ask for a disc that has all tests and reports for a certain block of time to be put on one disc, saving space and making them easier to take with you. Finally, going to the same facility allows you to build relationships with the people who work there, which takes some of the stress away from having to have testing done.

Pathology reports from biopsies

The physician who performed the biopsy will be able to give you a copy of the report. You should keep a copy so that any doctor who sees you in connection with the diagnosis made from the biopsy can read the report first-hand.

Operative reports from any surgery

It may read like something in a foreign language to you, but the operative report from the surgeon has much important information. Think of it as a road map for new visitors to your insides. It is helpful to a surgeon to have access to reports of operations performed by other surgeons so they can know in advance what happened during those prior operations, especially if they are operating in an area that has already been operated on before.

Results of blood tests, pulmonary function tests, and physical and occupational therapy evaluations

Most of these reports can be obtained from the doctor who orders them. Physical and occupational therapy evaluations are important in providing a baseline and information about progress in therapy. You need the initial evaluation and then ask for a copy of the report when therapy ends. You should ask your pulmonologist for a printout of pulmonary function tests every time they are done. If you go to a hospital respiratory department for the test ask the doctor to include in the order for testing an instruction for the respiratory therapist to give you a copy. (The original printout is easier to read than a copy of the faxed copy the doctor will get.) Deciding which blood tests are important to have copies of is not always clear. In general, if the test results are normal, you probably do not need to have copies of them. And if there is a value that is consistently abnormal you really don’t need a copy of every time the test is done. A copy of the most recent report with a note that the value is typically abnormal will be sufficient.

Discharge summaries from hospitalizations

These are reports that provide the basic information about why you were in the hospital, what happened while you were there and your condition at the time of discharge, and the instructions the doctors gave for follow-up. It is especially important to have this when being discharged from a hospital away from home so you have it while you are traveling home.

There are several ways to store these records. Most scanners will allow you to save scanned pages as PDF files which you can then save to a document file on your computer. PDF files can be read by any system, so this is the ideal format for your digital medical records. Be sure to keep printed copies of these records in case of computer crashes or loss of your phone or flash drive. Keeping them in a 3-ring binder with vinyl sleeves to hold the discs of your scans is the simplest way. Use dividers to separate each category.

Keep these records together with a summary of your medical history. (For information about how to create your own medical history summaries read our post Paper . . . Paper . . . Paper.)