Thursday, October 13, 2011

1p36 Deletion Syndrome Resources

Most of the time I love sharing experiences and information that families with special needs can all relate to regardless of specific circumstances.  But I want to take just a second to share some information that I've found useful with regard to my daughter's genetic disorder. Whitney was diagnosed with 1p36 Deletion Syndrome in the summer of 2004.  It's hard to believe that seven years have passed.  Since then, we've met many amazing families who have been affected by the same genetic deletion.  They've pointed us in the direction of internet support groups and charitable organizations to help answer our questions and be there for us when we've needed it.  If you've just joined us on our adventures in raising Whitney, and you have a loved one affected by 1p36 Deletion Syndrome, please take advantage of the following wonderful resources:

1p36 Deletion Support & Awareness - This non-profit organization was founded in 2008 by concerned parents and caregivers affected by 1p36 Deletion Syndrome.  Their mission is "to help individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy and productive lives."  The organization sponsors annual conferences for families and caregivers working to fulfill that mission.  You can read their quarterly newsletters, learn about upcoming awareness efforts and make a contribution by visiting

1p36 Deletion Awareness & Support Facebook Group - To get in touch with parents and others who have been touched by someone with a 1p36 Deletion please request membership to this Facebook group.  There are now over 245 members with experiences and knowledge to share.  The environment is friendly and supportive.  And it's a great place to get your questions answers if a loved one of yours has just been diagnosed.

Signature Genomics - This company was founded by Lisa Shaffer a genetics researcher who is a pioneer in microarray-based cytogenetic diagnostics.  In other words, the genetic testing techniques she developed have allowed for greater understanding of 1p36 Deletion Syndrome and other genetic conditions.  She is an expert on 1p36 Deletions and has an ongoing study that many 1p36 patients have participated in.  To get more information about this company, Dr. Shaffer's study and how they might be able to help as you learn more about a loved one's condition, visit

I hope these resources will help visitors out.  My family has benefited so much by being in contact with other great people around the world who are experiencing the same things we are.  And if you have questions or other resources you've used, feel free to post in the comments.

No comments: