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December 2014

 
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Happy Holidays!

Happy Holidays to our families all over the world!  We wish everyone a healthy and happy new year!

MSS Family News

Twelve-year-old Orlando from Brazil loves riding horses, talking with friends, playing Minecraft, and swimming.  His biggest challenges are walking (due to ataxia) and literacy.  He recently developed glaucoma in one eye, but has excellent vision in his other eye.  Like many of our families without a SIL1 mutation, his family is eager to understand the genetic cause for Orlando's challenges.  More about Orlando

Matteo, 7 years old, lives in Italy with his mother, father, and two older brothers.  He was diagnosed with MSS at the age of two and developed cataracts at five years. Matteo's biggest challenge is gross motor skills.  He attends first grade with the help of an assistant and is learning to play the drums!  More about Matteo and more about the Italian MSS association.


Robin from Kentucky learned that she is a carrier of a Sil1 mutation, providing confirmation that her three siblings (now deceased) had MSS.  Two of her three siblings with MSS were discussed in the 1964 paper by Dr. Norwood from Cincinnati.  At the time that paper was written, there were only about 30 published cases of MSS in the world.  Robin is a good example of how the Sil1 gene discovery is being used to confirm diagnosis among our families. More about Robin, her siblings, and her special needs advocacy

Tammy and Isaac live in Hawaii. Tammy is 35 and enjoys doing watercolor painting and selling cards from her paintings. Isaac turned 33 and continues to weave beautiful tapestries.  He also volunteers at the community college helping the International Club. They both enjoy doing crafts of the season and continue their pursuits of learning foreign languages. Tammy and Isaac like traveling to different places and went to visit Korea last year!  More about Tammy and Isaac's early years 

Per-Ivar from Norway shared a fascinating story about his four aunts and uncles that have MSS.  They were born in the 1940s and 1950s in a small Norwegian village when life was very different for special needs children.  They initially lived in "nursing homes", but moved to their own apartments and held various jobs as conditions for the disabled improved in the 1980s and 1990s.  More about Per-Ivar's family.

If you are new to our group, or if you haven't visited the family stories page of our website for some time, please check out the eleven families currently on the site.

 

MSS Registry Coming Soon

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 MSS support group is in the process of partnering with  the Coordination of Rare Diseases at Sanford (CoRDS) in South Dakota to establish an international MSS registry. 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. Participants will also have the option of choosing to share information with the MSS support group, allowing us to better understand the syndrome. We are very excited about the potential  to learn more about MSS and to help stimulate MSS research. The registry will be free for participants, our group, and researchers. Look for launch of the registry in 2015!

Join us on RareConnect or Facebook

Join our MSS community on RareConnect for a convenient way to share family stories and interact with other MSS families around the world. We currently have over 20 members from ten different countries. Translations to French, Spanish, German, and Italian are currently available.  We look forward to the availability of Portuguese language translations in early 2015.

Alternatively, join our MSS group on Facebook. The group is "closed" to protect the privacy of the members, but we will promptly approve your request to join.
Latest MSS (and related) Research

Hasagawa, et. al.. "Whole-exome sequence analysis of ataxia telangiectasia-like phenotype".

Synofzik, et. al., "Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration".

Ichhaporia, et. al., "Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion".

Buchkremer, S, , "Investigation of pathophysiological changes in a SIL1-depleted in vitro model using a combined approach of electron microscopy and quantitative mass spectrometry"

Sanford, T, "The Role of BiP Nucleotide Exchange Factor Sil1 in Immunoglobulin Biosynthesis" (Masters Thesis)

Informal Survey -  Family Members with Weakness or Ataxia?

One of our families has asked us to do an informal survey of the group that may lead to a better understanding of MSS.  We will not share your personal information to anyone without your permission.  Please email us with answers to the following three questions:

(1) Does your family member with MSS have a Sil1 mutation?  
(2) Does the mother or father of the person with MSS have a problem with weakness or ataxia?  
(3) Do any of the healthy (non-MSS) siblings of the MSS family member have a problem with weakness or ataxia?  

Thank you for your help!

New Book:  "A Family Guide to Childhood Glaucoma and Cataracts".  

A 248-page book is now available for families of children with glaucoma, cataracts, and related conditions. The book discusses medicines, procedures, and technology. The book was supported by the Pediatric Glaucoma and Cataract Family Association (PGCFA),  Available on Amazon.

Family Responses to Getting a Diagnosis

The Midwest Genetics Collaborative created an excellent video about getting a diagnosis of a genetic disorder. It is an interesting video for families, whether they were diagnosed recently or years ago.  Link to video.

Rare Disease Day

Rare Disease Day is held the last day of February each year and is the occasion to raise awareness for rare diseases. A rare disease is any disorder that affects a small percentage of the population. Although the disease may be rare, patients and families share common challenges. Visit the rare disease day website to explore the world-wide events that will be taking place.

Copyright © 2014 Marinesco-Sjogren Syndrome Support Group, All rights reserved.


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