On June 29, the MSS support group and Coordination of Rare Diseases at Sanford (CoRDS) launched the international MSS Registry. Establishing a registry is one of the most important things a rare disease advocacy group can do to help advance research, understand the progression of a disease, and potentially help identify and assess treatments. The registry is free for participants, our group, and researchers. Researchers who are interested in studying MSS will be able to review de-identified patient data, CoRDS will notify families of researcher interest, and the families can contact the researcher directly to discuss participation. Registration only takes about 20 minutes and requests contact information, symptoms, and diagnosis. The registry process is separate from joining the MSS support group mailing list or social media.
Athena, now 2 1/2 years old, loves music, Disney, and outdoors. She is talking and saying new words every day. She is working on feeding, walking with a walker, and crawling. Good job, Athena! She is also going to have eye surgery to tighten the muscles and straighten her eyes.
Colton is 4 1/2 yrs old and was clinically diagnosed last fall with MSS (no Sil1 mutation). Prior to that his diagnosis was ataxic cerebral palsy due to under developed cerebellum and issues with balance/fine motor skills. Although he has trouble with balance, he is able to walk. We have tried two types of braces (about to try another called the noodle) and has just started using a walker to help him with his independence. He receives PT, OT, and will start speech therapy soon. He goes to an early childhood school where he has thrived. Colton loves to swim! His family is navigating the insurance world to try to get exome sequencing. They are also waiting on results of an MSS-like panel being done through a doctor with Sanford Research. (CoRDS registry is part of Sanford Research). The family will share all results as soon as they get them.
Kimberly, almost 23, continues to like her full-time adult-day program and participates in many park-and-recreation social activities. She also enjoys horseback riding, special needs gymnastics, a walking club, working out with her personal trainer, and participating in a special needs book club. Since Kimberly does not have a Sil1 mutation, we will be visiting a geneticist again soon to see if they can determine the cause of her MSS symptoms. We will keep you posted!
Best of luck to the families as each moves down a new path!
Cheat-Sheet for Parents with a Special Needs Child
The mother of a child diagnosed with an incurable disease as an infant shares a "cheat sheet"for other special needs parents. No matter the age of your child, the nature of the diagnosis, or how long since your child was diagnosed, these suggestions provide good advice for dealing with a diagnosis and maintaining a healthy family life.
More than 60 patient representatives from 30 countries gathered in Madrid, Spain on May 28, 2015 for the inauguration of Rare Diseases International (RDI) and to adopt a joint declaration to advocate for rare diseases as an international public health priority. RDI represents patients and families of all nationalities across all rare diseases. It will be the voice of all people living with a rare disease around the world today and will work to give visibility to rare diseases in the global health agenda.
United States Adopts ABLE Act
The ABLE Act was signed into law in the United States in late 2014. The ABLE (Achieving a Better Life Experience) accounts are tax-advantaged savings accounts for eligible individuals with significant disabilities, which will become a new financial planning option in 2015. Income made on dollars saved is tax free when placed in an ABLE account (up to $100,000) and used to reimburse for qualified expenses as diverse as housing, employment, transportation, health care and technology expenses. See your financial planner or attorney for all the details.