LGMD ORGANIZATION: 스티칭 스피어크라흐트
웹 사이트: www.stichtingSpierKracht.com
페이스북: https://www.facebook.com/stichtingspierkracht.nl
INSTAGRAM: https://www.instagram.com/stichting_spierkracht
조직이 중점을 두고 있는 LGMD 하위 유형은 무엇인가요?
We focus on LGMD2D / R3 Alpha Sarcoglycan-related
하위 유형에 초점을 맞추는 경우 레지스트리가 있으며 환자는 어떻게 가입할 수 있나요?
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.
귀사는 비영리 단체인가요? 그렇다면 어떤 유형인가요?
Yes, we are a non-profit organization based in the Netherlands. We only have volunteers and no overhead.
조직을 만들게 된 계기:
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.
조직의 미션은 무엇인가요?
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.
조직이 제공하는 서비스
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.
귀사의 가장 자랑스러운 점은 무엇인가요?
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.
귀사에 대해 전 세계가 알았으면 하는 것은 무엇인가요?:
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.
사람들이 조직을 지원하는 데 어떻게 참여할 수 있을까요?
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.
조직에 연락하는 가장 좋은 방법은 무엇인가요?
Email our patient expert at stichtingspierkracht@ziggo.nl, or fill out our contact form on our website: http://stichtingspierkracht.com/
추가하고 싶은 내용이 있나요?
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.
