LGMD ORGANIZATION: Stichting Spierkracht
WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON:
We focus on LGMD2D / R3 Alpha Sarcoglycan-related
IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN?
We advise all LGMD2D patients to register: https://lgmd2d.org/patient-resources/register/. It is very important to have a DNA confirmed diagnosis. If your mutation is not confirmed, it can impact your medical treatment.
Is your organization a Non-Profit? If so, what type:
Yes, we are a non-profit organization based in the Netherlands. We only have volunteers and no overhead.
WHAT INSPIRED THE CREATION OF YOUR ORGANIZATION:
We got the foundation of SpierKracht as a Christmas gift. Our son was diagnosed with LGMD2d in 2006. As we lost our oldest daughter to a heart disease we were determined to do everything for our kids and traveled many years to the best children’s hospital. Friends fund raised money with marathons etcetera to cover the costs and we organized benefit banquets.
WHAT IS YOUR ORGANIZATION’S MISSION:
All patients deserve the best care so we decided to reach out to all patients and their families diagnosed with LGMD2D in the Netherlands. We mainly focus on Awareness, education, problem-solving and everything you need to know before you enroll in a trial. As the Netherlands is a very small country and LGMD2D is really rare we reach out globally. We recently made a video about three people living with LGMD on three different continents.
WHAT SERVICES DOES YOUR ORGANIZATION PROVIDE:
Reliable information for the patient’s next of kin with LGMD2D on all adequate subjects in the different stages in the patients’ lives. We also have one qualified patient expert and we work on early diagnosis and patient advisory not only for the Dutch patients but worldwide.
WHAT IS YOUR ORGANIZATION MOST PROUD OF:
We are very proud of all the people we know, the families living with the diagnose LGMD2D, but we are also very proud of all the people who dedicate their life to find a cure and providing the best care for the patients. The right diagnosis opened a door to a gene trial and we are looking forward to a treatment. Until then we will do everything to guide the families practical but also pave the way for providing a treatment and global access.
What do you want the world to know about YOUR ORGANIZATION:
Getting the diagnose LGMD2D is not the end of the world. It is a journey with challenges, but you get a great LGMD2D community with it. The disease manifests differently in every patient but we have a lot in common and we can do everything together. Don’t let the disease define or limit you. You are who you are and still chase your dreams.
HOW CAN PEOPLE BECOME INVOLVED IN SUPPORTING YOUR ORGANIZATION:
We are always looking for friends who want to organize a fundraising activity. Due to the pandemic,
most of the families are in isolation and we were not able to organize our annual banquet in 2020 due to the coronavirus. Any donation, big or small, will be used on helping families with LGMD2D finance medical care or, for example, adaptations to their homes.
WHAT IS THE BEST WAY TO CONTACT YOUR ORGANIZATION:
Email our patient expert at email@example.com, or fill out our contact form on our website: http://stichtingspierkracht.com/
IS THERE ANYTHING ELSE YOU’D LIKE TO ADD?
10 years ago there was no treatment available and doctors just followed the disease’s progress. The gene trial of Prof. Jerry Mendell in 2015 for LGMD2D had positive results and now there are also promising research for LGMD2 A, B, C, E, and I. I am looking forward to some time, somewhere in the near future where genetic treatment is made available to everyone, and who knows where the neuromuscular field will be in another 10 years. But in 2020 there are still doctors that give patients a diagnosis but don’t tell them advancing research including gene therapy. Your treatment is all about you, become the expert and connect with a Community Advisory Board member for any type of LGMD.