By Sarah Cortell Vandersypen, CFRE, Executive Director, United MSD Foundation
On May 9, 2016, Willow Cannan, the two-year-old daughter of Tom Cannan and Amber Olsen, was diagnosed with a terminal disease called Multiple Sulfatase Deficiency (MSD) — a rare genetic disease which left Willow’s body unable to process the natural cellular waste made in normal everyday organ functions. They were told to take her home and love her until she passed.
This story is all too common for rare disease parents. What isn’t common is what came next.
After Willow’s diagnosis, Tom and Amber were determined to fight this disease in every possible way. In 2016, after meeting with researchers, doctors, and other parents with children with MSD from all over the world, Amber established the United MSD Foundation with a single yet powerful mission: to cure Multiple Sulfatase Deficiency.
Over the past seven years, the United MSD Foundation assembled a global research team. The organization made a decision to focus its research funding on AAV9 gene therapy coming from the lab of Dr. Steven Gray as well as the pre-clinical work, including a gene therapy mouse model and subsequent toxicology study, and a Natural History Study.
On May 16, 2023, the Bespoke Gene Therapy Consortium (BGTC) announced our gene therapy project partners Children’s Hospital of Philadelphia as award recipients. The BGTC is a public-private partnership funded by the Foundation of National Institutes of Health; the National Organization for Rare Disorders (NORD) is one of its members. This award will fund the manufacturing of the AAV9 gene therapy and Phase I/II clinical trials and keeps us on track with its goal of gene therapy as a potential treatment option.
Meanwhile, Dr. Lars Schlotawa at the University Medical Center in Gottingen, Germany, is moving swiftly toward clinical trial for his drug repurposing study. In partnership with REMEDi4ALL, Dr. Schlotawa is exploring the use of tazarotene to help with symptomatic management. That clinical trial is projected to enroll by the end of 2024, pending agency approval.
This is an incredibly exciting time for the MSD community. Families are provided with research opportunities through our Foundation-managed Biobank and Patient Registry, a Prospective Natural History Study, and two upcoming clinical trials. Interested patients and caregivers can join these research programs here.
Moreso, the Foundation provides family support, patient navigation, resources, and community. This wasn’t available when Willow was diagnosed. We now support families in 19 countries, speaking 10 languages. As part of our commitment to removing any barriers to support, we translate many of our patient materials and often hire interpreters for family phone/Zoom calls and group family support meetings. We aim to ensure that no family will go through this difficult journey alone.
As a way to connect the worldwide MSD community, MSD World Day was created together with our partner foundations. Each year on July 30, MSD World Day is a day to acknowledge Multiple Sulfatase Deficiency, to shine a spotlight on those impacted by this ultra-rare disease, and to raise awareness around the world. The awareness day includes a fundraising campaign, state proclamations, building and landmark illuminations, and other events planned by our international partner foundations in Argentina, Ireland, and Spain, as well as those in Florida and Missouri in the United States.
This year, we plan to apply for 22 state proclamations and several building and landmark illuminations in areas where our staff or MSD families live. New this year is our team of volunteer social media ambassadors, who will play a critical role in raising awareness and promoting our fundraising campaign. All funds raised will go toward patient support—including individualized patient navigation, family support programs, translation and interpretation services, and more.
Lastly, in just over one week, the 2024 International MSD Scientific and Family Conference, co-hosted by the Foundation and Children’s Hospital of Philadelphia, a NORD Rare Disease Center of Excellence, will bring together MSD researchers, physicians, care providers, and families to connect, learn and identify needs in the MSD community. We encourage you to attend in the future and watch our channels for updates from this year’s event.
As you can read, we’ve come a long way from one mom looking for a treatment for her daughter, but everything we do is underpinned by our commitment to our families. Join us on this global movement for a cure for MSD.
If you are a MSD caregiver or if you know a family impacted by MSD, we encourage you to reach out to us so we can provide support and connection to a worldwide MSD community.
If you would like to donate to our MSD World Day campaign, make your contribution here.