The LGDA has been working on a special report for our community concerning the advancement of both research and clinical care. We expect to publish this exciting summary of the recent efforts of the foundation and our partner – the Lymphatic Malformation Institute/LMI before the summer. 

 

As a preview, we will say that we are most excited about both areas of work to benefit our community. In research there have been several discoveries – U.S. and International – some published, some soon to be published. We will relate how these discoveries improve our overall understanding of our rare disorders and how they provide hopeful advances in new therapy. In the area of clinical care, the LGDA has been selected to be a full member of the newly established network of investigators of complex vascular anomalies – CaNVAS. This new consortium of physicians and patient advocacy will work closely to establish a natural history database of lymphatic disease – including studies and trials of effective therapies. We will provide further details in the upcoming special report. Support from our patient community will be of the utmost importance in advancing the work of both science and clinical research and care improvement.

 

A major emphasis for this exciting work ahead will be the increased effort to register all patients in the LGDA Patient Registry and the Boston Lymphatic Anomalies Registry and active donor participation in the Tissue Bank. Our investigators stress that they need tissue to study. Without tissue samples, they cannot study the pathology and behavior of the diseases.  We will be offering details and guidance on these through our Patient Support Programs. We hope every patient and family will join in making sure we can support the research by clinical investigators and scientists.

 

The LMI has been the steady and substantial provider of research funding for GLA, GSD and KLA – both for basic research and for the Boston Lymphatic Anomalies Registry – the only such database in the world! The LMI is how the first recent discoveries were made possible! We are so very grateful to the LMI and Dr. Michael Dellinger and the accomplishments of the several Labs (more later on these).

 

In addition, an important source of research funding comes from our annual participation in the UPenn Orphan Disease Center Million Dollar Bike Ride. Together with the funds we and the LMI Team raise, and the threshold of matching funds from UPenn, we have raised $600,000 for GSD, GLA and KLA research (we will provide an update on these projects in our special report). We want to remind all about the current effort to raise funds for the 2019 Project. For whatever donation you can make – your gift will be matched 100% (up to $30,000). Every dollar of the funds for our Riding Team will go to research for our diseases. We have a good- sized group of riders this June 8 in Philadelphia. Please consider donating, riding, and/or rooting us on! You can donate at our Bike Ride page by clicking here.   Every gift is very much appreciated.

 

We want to thank every person who has donated to the LGDA in 2018 – whether to the Bike Ride or directly to the LGDA. We are enormously grateful for your gifts. We may be slightly behind in personal acknowledgements, but we try to acknowledge every single gift. Please accept our deep gratitude. Every single dollar is needed and is used for either our Registry, patient support programs, medical and scientific conferences, promoting our ultra-rare diseases, and supporting research. We have no employees – and just one paid part-time support person, so our administrative overhead is quite minimal. Please help us raise funds to grow our foundation. Our community is getting larger every year!

It’s hard to believe our awareness day is fast approaching. May 26 will be our third year of holding our awareness campaign, with the last two years being a huge success. This is a fantastic opportunity for the LGDA and its international partners, LGDA Europe and Alfie’s Trust, to work with our patient community so they can share with others the impact this disease has on them and their families. The campaign is about raising awareness within our own patient community and also the general public. 

 

Two Ways You Can Help Us to Help You:

Share Your Story

We know that each person has a different story to tell and it is important that this is shared with others. It doesn’t have to be your whole story. It could just be about the diagnosis or your treatment journey. It could be about how you have coped (or not) emotionally. These can be hard things to write down and share, but it is important because your story can help others. If you would like to take part, then send your story along with a photo of yourself or family (not compulsory) to [email protected] . Your story will be added to our website and shared with our patient community over the course of our awareness campaign. Need help? Please just get in touch and we can send you a document to help you choose which part of your story you would like to share.

Tell Us About Your Daily Challenges:

If telling your story is not for you, then the second part of our campaign is about the daily challenges you face because of your diagnosis. What are your top two challenges? It could be finding a doctor that listens and takes your disease seriously, the disability that comes with the disease, the fatigue or the isolation you feel because your family and friends just don’t understand. Whatever your challenge is we would like to hear about it. You may have more than two! Pop them in an email and send them to [email protected] .

Our campaign is all about bringing people together, sharing information that will help educate and support others. Please get involved! All information needs to be sent to us by April 30. Thank you.

With more and more non-English speaking patients and families contacting us, we have opened up a community with RareConnect. With translation available at no cost to participants, RareConnect allows patients from different countries to interact in English, Dutch, French, German, Italian, Portuguese, Spanish, Russian, Serbo-Croatian, Czech, Ukranian and Japanese.

 

Through RareConnect, patients and those who care for them may communicate, sharing experiences and information in a safe, moderated online forum.

RareConnect, maintained by Care4Rare Canada in partnership with EURORDIS, is the growing online network of rare disease communities that brings together thousands of patients, families and groups who might otherwise be isolated.

 

To sign up to RareConnect, click on this link here, select your language and follow the instructions to register.

The LGDA tries to make information on lymphangiomatosis and Gorham-Stout Disease accessible for all. This takes time, money, effort. But the result is here: several translations of the website and brochure are available now.

The website by the LGDA Europe is translated in Italian, Dutch, French, Polish, German and Russian ( www.lgda.eu ). Other translations are underway.



The brochure is translated in nine languages: English, Italian, Dutch, Spanish, Polish, Turkish, French, German and Russian.

In November 2015, LGDA the Netherlands organized the first informal meeting of Dutch and Belgian patients and their families in Dordrecht. Five patients and their families spent a lovely afternoon together. Meeting others with the same disease and sharing experiences can be heartwarming.

Four years is a long time, so we thought the time is right to organise a second informal meeting of Dutch and Belgian patients and their families.

When: LGDA Day, Sunday, May 26, 2019

        What: An informal event with drinks and snacks; meet other patients and their families

Where: Family home of patient Sete Braspenning (Bareelstraat 48, 2990 Loenhout/Wuustwezel, Belgium - close to the border of the Netherlands)

Who: Every patient and family affected by GLA/GSD/KLA 

 

Over the last six months, Dr Lopez and his team have organised five expert clinics at La Paz Hospita,l in Madrid, Spain, in which our patient community have been invited to attend. We are pleased to say that the feedback we received from the 13 patients that attended has all been positive.

The clinics are conducted by Paediatric Plastic Surgery and Genetic (INGEMM) services at Hospital La Paz in Madrid to review meticulously each case, offer advice on monitoring and treatment, include the patients in their database and obtain biological samples (blood, serum, saliva, and skin biopsies).

In these clinic’s' patients are first reviewed by Paediatric Plastic Surgery, (Dr. López Gutiérrez and Dr. Triana Junco) going through their medical history and previous treatments (medical, interventional and surgical), as well as actual clinical symptoms. They perform an exhaustive physical exploration, review recent images provided by the patient and establish a presumptive diagnosis.

Next, recommendations regarding clinical and molecular diagnosis, management and follow-up, are explained to the patient and family.

Patients are also introduced to the genetics team (Dr. Martínez González and Dr. Rodríguez Laguna) and are invited to participate in a research project funded by the Lymphatic Malformation Institute (USA), the “Genetic, genomic and functional analysis in patients affected by Gorham-Stout Disease and General Lymphatic Anomaly (lymphangiomatosis)."

If you are interested in attending future organized clinics or would like more information, then please contact [email protected].

The LGDA is again entering a team in the Million Dollar Bike Ride in Philadelphia.

And you don't have to get on a bike in order to help. To donate to the team and for more information, click on this link here.

If you'd like to ride or come cheer on the team, email [email protected] and we'll provide you with details.

The past few years, December has been the month that the people of Belgium show their big hearts by organizing fundraising events for different charities.

This is because of the ‘Warmste week’ in Belgium. It is a national fundraising event organized by a national radio station where people can organize events or pay money for a music record for a specific charity. LGD Alliance Belgium was one of those charities.

Nine fundraising events were held for LGDA Belgium, including a winter BBQ, selling Christmas cards, good luck charms made by a friendly neighbor and 5,458 waffles baked by family and friends.

There was also a weekend full of activities organized in our own village, Loenhout, where four children are affected by a disease. These 4 families decided to join forces and organize a fundraising weekend. It is a way to share responsibilities and divide the tasks. At the end the raised amount was split in 4.

With all the fundraising events held in December 2018, we raised €18.320 ($20,629) for LGDA Belgium!

Fundraising on behalf of the LGDA doesn’t require you to participate in a race or ride, host a dinner auction, put together a golf tournament or run long distances – it can be as simple as passing out a flyer or spreading the word on social media.

Many restaurants offer a “dine to donate” night. You and the restaurant choose a date and time where a percentage of the restaurant's sales will be donated to the LGDA. Different restaurants have different stipulations (some require the guest to show a phone message or a flyer), but your job is easy - invite people to dine! It’s something we all do – and who doesn’t like to eat?

Learn more about this easy opportunity here.

Want to support the LGDA but don't know where to begin? Download our international "Get Involved" flyer with ideas for how to support the LGDA no matter where you live or your level of skill in fundraising.



For questions and direct help, contact Sandy Goldfarb at [email protected] .

The Rudy Study is a UK-based study in rare diseases headed up by a research team at the University of Oxford. Rudy aims to transform clinical care for participants through patient driven research.



The study focuses on how the rare disease affects a person’s life. Questionnaires are sent out every six months looking at a patient’s quality of life, sleep, pain, tiredness. They also collect information on fractures, medications taken and how long it took to receive a diagnosis.

The study is now open to all patients in the UK with lymphangiomatosis (GLA), Gorham-Stout Disease (GSD) and kaposiform lymphangiomatosis (KLA).

For more information and to register, visit www.rudystudy.org, o r contact

[email protected] or [email protected] .