Why did you start Cure MLD? I get asked that question pretty frequently.
The idea started at the 2019 Global Leukodystrophy Initiative. A group of MLD parent advocates had come to Philadelphia to learn more about the remarkable progress to treat MLD. And we were united in the idea that we wanted to work together more, learn from one another, and build on each of our strengths.
While we were grateful for the efforts of established patient advocacy groups, we wanted to create a space for new ideas and new voices.
Since July, we have spoken to families in South Africa, Slovenia, Poland, Germany, India, South Africa, Pakistan, Brazil, England, Ireland, Turkey, and all over the US.
We came to realize that the needs of the MLD community were evolving so fast and that a global partnership to bring together mom-and-pop foundations with the more established groups could become a force for good. We also discovered that there were amazing people around the globe doing work for our families. Many of us know about the important work of the Suhrs through MLD Foundation, Bob Rauner at the United Leukodystrophy Foundation, and Hunter's Hope Foundation, but there were other advocates as well.
Not enough people knew about the likes of Les Martin leading the way for newborn screening in Ireland. There is Guido De Barros who had funded research for MLD newborn screening to be piloted in Italy (he did this work in honor of his late daughter Sofia) or the amazing MLD mother Veronica de Pablo who had been working to raise awareness and support leukodystrophy families in her home country of Argentina and all over South America. In 2019, her foundtion had hosted doctors from Children's Hospital of Philadelphia for their family conference in Argentina which really opened the doors for collaboration. We met Tara Casey who goes to local doctors' offices with mason jars filled with suckers decorated with labels that read "MLD Sucks". She hopes doctors will consider rare diseases like MLD when parents come to them saying: "Something is wrong with my kid." There are MLD grandparents like Debbie Beard Skolaski who work to raise awareness of rare diseases and MLD.
We heard from caregivers of adult-onset MLD patient who felt left out of the conversation in our community. We are so grateful for Pam Bennettand @MaryOmecene who schooled us on adult MLD patients and took us to task to do better.
There were our mothers like -Sarah Cornell (Cora's Corner) and Lina Graziano Sereno - who have taught us about the unique challenges faced by our transplant families. Amy Price has become such a great champion for gene therapy and the gene therapy families. There is Shanna Lueck Quimby leading the fight for newborn screening in her home state of Minnesota in honor of her son Gavin. Chloe's Fight Rare Disease Foundation Erica DeMoure Barnes who has become a national champion for rare diseases but has become such a great leader for the MLD community. We can't forget the indefatigable @BobWyborn who works with families in Australia and New Zealand and has become a tireless advocate for newborn screening in Australia. We caught up with David and Lindey McIntyre of Bethanys Hope Foundation in Canada, who have raised millions for research. We can't forget MLD mom Dawn Gelhart of ELA Deutschland e.V. in Germany or Jackie Imrie an MLD advocate in the UK.
Over the past six months, Cure MLD has spoken to MLD families around the world, some newly diagnosed, some years into the MLD journey. We heard about the need for information and connection, and that's why we launched the online support group with Dr. Al and built our new website www.curemld.com.
We realized families did not have access to good medical resources, so we funded the publication of the the "Living with Leukoydstrophy" guide and now provide it free families. When Takeda announced a new clinical trial, we worked with Takeda to get funding for our outreach to families. When doctors and researchers were "overwhelmed" by the great interest in the trial from around the world, we worked with Takeda and the clinical teams to support families and help families make decisions that made the best sense for their children. We sent out 50 care packages and provided $6000 in travel grants.
As soon as we heard that so many of our US families struggled with Medicaid, we worked individually with families in how to advocate for care but we got journalists to cover these stories and, moving forward, Medicaid will be a key priority in our dealings with policymakers and working with the patient communities.
Given our view of the community, we decided to launch an expanded community survey with our partners at KrabbeConnect and National Organization for Rare Disorders, Inc. (NORD) in 2020. We are sponsoring the meeting in New York for doctors to design a standards of care plan for MLD newborn screening patients (and we hope to export these learnings to our friends and partners in the EU and beyond).
We are going to start working on a special family conference at Disney in December 2021 with our partners at KrabbeConnect. This Disney conference will be a family-focussed event with no scientific conference (there will be strictly enforced ban on PowerPoint slide presentations). Instead, this event will be providing a space for new perspectives and voices. Topics will include support for siblings, strategies for nutrition and feeding, a fathers' support group, how to raise awareness and tell your story, fundraising strategies, and dealing with Medicaid.
And we will welcome the support and participation of all the other patient advocacy groups who care for families impacted by MLD.
Finally, we want our MLD families to be active contributors and participants in this conference. Not only will we need the community's help to fund this meeting (and keep costs as low as possible), we also invite you to to submit proposals for sessions at our Disney conference. Is there an idea or topic you want to discuss or you feel passionate about, we want to hear from you? We have MLD parents with some amazing skills out there in social media, writing, fundraisng, etc. and we want to hear from you.
Stay tuned for more details about Disney in 2021.
On Monday, January 6th, Cure MLD will be part of a meeting with stakeholders from around the world. Over the coming months and years , we will continue to invest in our community, listen to your ideas and stories, and work to invest in a future where our loved ones get a chance at healthy and fulfilling lives.
Happy New Year!
Maria Kefalas, co-founder, Cure MLD