October 2014

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Updated Newsletter Format

We hope you like the new look and feel of our MSS newsletter.  The new format will enable us to provide more frequent and timely information to our MSS families, friends, and professionals.  Let us know what you think! Contributions and suggestions are always welcome.
About the MSS Support Group

The MSS support group now includes about 50 families including people from 18 countries: US (many states), Canada (several provinces), France, UK, Germany, Pakistan, Italy, Brazil, Australia, Mexico, Turkey, Spain, Malaysia, Japan, Lithuania, Norway, India, and Netherlands. We really cover the globe!  The ages of the MSS patients range from two years to middle-age to senior citizens. About half of the families who have shared their Sil1 status with us (not a scientific sample) have tested positive for a Sil1 mutation.

Introducing our newest members

Colton, 3 1/2 years old, lives in Texas with his parents and 2-year old brother.  He had cataract surgeries about a year ago and was diagnosed recently based on symptoms (no Sil1 mutation). Colton's mom is enthusiastic about helping to get the MSS support group more active again. More about Colton

Joey, a 5-year old girl, was recently diagnosed in the UK after getting the results of Sil1 testing.  Her parents noticed poor head control and delayed milestones in her first year. She had cataract surgeries (with IOLs) in 2012. Joey can stand by leaning against wall, step when holding onto the furniture, and her talking is greatly improved. She has a special trike which she can pedal to school and around the parks.  More about Joey

Athena, two years old, is from Florida. Her parents want to learn everything they can about how to help their little girl flourish. She wears braces on her feet and currently uses a stander.  Athena does not yet have cataracts. More about Athena

A big welcome to all of our new families!
Family Updates 

Kimberly from California is 22 years old. She recently completed the four-year post-secondary program in her local school district and is enthusiastic about attending her new adult day program.  She enjoys horseback riding, book club, special needs gymnastics, and working out at the gym with her personal trainer. More about Kimberly

Bron is a high-schooler from Wales.  She enjoys choir club at school, computer games, her iPod, and using technology to keep in touch with friends.  Bron also loves playing with her dog, Honey - they're great pals!

Eighteen year old Cameron is from Canada.  He likes high school and is very happy in his new group home, with strong support from his parents and grandparents.

Richard is from the Netherlands.  He and his brother both have MSS. He is interested in corresponding with others with MSS (particularly those in middle-age) who are experiencing increased weakness. 

Dominic and Daniel live with their parents in Australia. Dominic completed high school, is active in a community participation program, and loves drama. Daniel is doing well in 11th grade.  He has become more independent, recently attending church camp without an aide and using his walker to move around for the whole five days. 

Misa in California is in her late twenties.  She graduated from community college, continues to take additional classes there, and sometimes volunteers at the local hospital.

Sylvain in France lives independently, works part-time in an office, and even got his drivers license.  Congratulations, Sylvain!

Jake from Pennsylvania is in middle school (and from what we hear, quite popular with the young ladies!).  He has participated in basketball, baseball, horseback therapy, and karate. He has been walking independently now, without the need for a walker, for about three years. Also, he is one of the managers for his Middle School's 7th and 8th grade football teams.  Jake and his family enjoy spending time at the beach.

Join us on RareConnect

MSS is one of the rare disease communities on the NORD-EURODIS sponsored RareConnect site.  RareConnect makes it easy for families to share stories, ask questions, and exchange information in five languages -  English, French, Italian, Spanish, and German.  Many of the families described above belong to RareConnect. The group has had interesting discussions on recent diagnosis, eating challenges, dealing with increased weakness, on-going research, and more.  Please join us on RareConnect.  If you are interested in corresponding with a particular family, but they aren't yet a member of RareConnect, email us and we will help connect you.  
Latest MSS Research

Pubmed is the best source of information about the latest MSS research. Some technical papers are available at no cost.  If you are interested in a particular paper, please contact us.  Here is a very brief summary of the most recent papers. reviewed 36 patients from Japan. Most of the patients had the same SIL1 mutation. Clinical features of patients without SIL1 mutations were indistinguishable from those with SIL1 mutations. describes mechanisms that may contribute to mental retardation in MSS. looked at the Sil1 mouse mutant woozy to explore mechanisms leading to Sil1 deficiency-related skeletal muscle pathology. The mouse abnormalities were similar to the myopathy in human MSS patients. did SIL1 mutation analysis on 62 patients. 60% of the patients with ataxia, cataracts, and myopathy had SIL1 mutations. Not all had intellectual disability. Cataracts were present in all patients over seven years, but not always in infants. looked at 15 patients from 14 families and found 7 different SIL1 mutations. Some patients had novel clinical features, but there was no clear way to distinguish those with and without SIL1 mutations. 

Fun activities

Several of our families have suggested the following organizations for fun, exercise, or socialization.  If you have other recommendations, please send them to us and we will include them in the next newsletter.

Miracle League Over 200,000 special athletes participate in baseball in the US and other countries.

Therapeutic Horsemanship  Find a therapeutic horseback riding center near you. 

Next Chapter Book Club Offers weekly opportunities for people with developmental disabilities in over 150 cities to read and learn together, talk about books, and make friends in a relaxed, community setting.
EURODIS Photo Contest

The European Organization for Rare Diseases (EURORDIS) has announced its 2014 photo contest.  Participants have the chance to win an iPad Air. Photos must be submitted by December 16. More


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