Marshall-Smith Syndrome Organization of the USA, Inc. ("MSS-USA" for short) was founded in 2023 by parents of children diagnosed with Marshall-Smith Syndrome (MSS). MSS is classified as an "ultra-rare" genetic disorder, and fewer than 100 cases have ever been described in medical literature worldwide.
A spontaneous mutation in the NFIX gene causes MSS, and in most cases, nearly every body system is affected in some way. MSS causes unique facial features, difficulties with breathing and feeding, advanced bone maturation, and global developmental delays. People with MSS usually require feeding tubes, respiratory support (tracheostomy, ventilator, CPAP, oxygen), mobility devices, and lifelong, round-the-clock skilled supervision. Despite these needs, individuals with Marshall-Smith Syndrome are happy and engaged members of their families and communities.
There are approximately 30 known individuals living with Marshall-Smith Syndrome in the United States. Until MSS-USA came along, information about US-specific cases was mostly shared in a parent-to-parent manner. The US healthcare system is vastly different than many around the world, so MSS-USA was formed to provide support to a more targeted group of families. One of our primary goals as an organization is to create a rare disease patient registry. This registry will host information on MSS from all over the world in one central database, opening doors for new research projects to enhance current standards of care, establish safe and effective treatments, improve patient outcomes, and increase quality of life for individuals living with MSS, now and in the future. Marshall-Smith Syndrome was long considered a disease of childhood, with an official life expectancy of 3 years, but thanks to advances in medical care and increased knowledge, people with MSS are living well into adulthood.
In addition to creating a patient registry and advancing knowledge, MSS-USA communicates with families of US patients, especially those new to the diagnosis, to help them navigate the practical aspects of their journey. We provide emotional support to reduce feelings of isolation that are so common when raising a child with special needs. We hope to build even stronger relationships between families through various outreach projects and regular, virtual and in-person family meetup events.
The third goal of MSS-USA is to foster advocacy for individuals living with Marshall-Smith Syndrome. We do this by first mentoring families along their own advocacy journeys. From the doctor's office, to the playground, to the classroom - we are our children's voices! MSS-USA also aims to educate families, medical providers, policymakers, and the public about Marshall-Smith Syndrome and its varied presentations and effects. We plan to develop a set of Clinical Practice Guidelines that will lead to early detection of secondary issues commonly seen in MSS (scoliosis, bone fractures, failure to thrive, etc) so that the effects may be delayed, minimized or altogether avoided. Our organization also believes it is important to raise awareness about the challenges that individuals with MSS and their caregivers face with regard to inclusion, accessibility, representation, and discrimination.
MSS-USA is and always will be a parent-led organization, backed by directors and medical advisors with a proven commitment to the disability community. Your generous donation will help us fulfill our mission of support, research, and advocacy.