Category Archives: Family and PArenting

Video: MECP2 Duplication and Hope for Families

This 5-minuted video from Joseph Mendoza does a superb job of telling the story of children and adults with MECP2 Duplication Syndrome and their families.

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Andrew Solomon on Parents of Children with Severe Disabilities

I am sorry that I have been neglecting this blog. I’ve just been trying to balance too many things. This excellent video from Andrew Solomon is definitely something that parents of children with severe disabilities need to access.,,, and it inspired me to try to catch up. See previous post on his book, Far From the Tree, for more on the book this is based upon.

2014 New Years Message for Families

envelopeThank you to all the families of individuals with MECP2 Duplication Syndrome that have made the effort to communicate with and support other families.

Thank you to all the families of individuals with MECP2 Duplication Syndrome that have worked so diligently to spread public and professional awareness of the syndrome. Continue reading

Far From the Tree

FFTTJust a week ago, I posted an entry on the Agony and Ecstasy of parenting a child with severe and multiple disabilities. The next day, a friend was telling me about a remarkable interview he heard on CBC radio with Andre Solomon, author of Far From the Tree: Parents, Children and the Search for Identity, that dealt with some of the same things. I was interested enough to check out one of many interviews with Solomon on the the internet, and I was 50 impressed with the interview that I bought the 996-page book.

Since this book has been a best seller for about a year now, I am a little embarrassed that I am just hearing about it. I haven’t finished it yet, but I have read enough to say that it is truly wonderful and important reading for anyone who wants to understand parents of children with intensive needs or any parent whose child is exceptional in some significant way Continue reading

The Agony and the Ecstasy of Parenting a Child with Intensive Needs

ristina2 This post is for parents of children or adults with MECP2 Duplication Syndrome but it is also for all parents of children or adults with intensive needs. It is about how having a child with intensive needs changes our lives so fundamentally… about how challenging and sometimes painful it makes our lives…. but also how it enriches our lives and makes our lives better in some ways. Continue reading

MECP2 Duplication Syndrome Families on Facebook

 

MECP2FTFBFamilies of children or adults with MECP2 Duplication Syndrome are invited to join one (or more) of the Facebook groups connecting families.  The MECP2 Duplication Syndrome Family Talk Group links more than 300 family members from around the world. Topics of discussion include: information sharing, mutual support, news on research and treatment, practical tips, and lots more.

The UK MECP2 Duplication Syndrome Support Group links 1904 family members, primarily in the United Kingdom and Europe.
Duplication MecP2 France links 72 Francophone family members in France and other countries.
To join these groups, family members must join Facebook (if they are not already members). Then go to the group page and request membership.

MECP2 Duplication and Miscarriage

questionWhether or not MECP2 Duplication Syndrome is associated with a higher rate of miscarriage during pregnancy remains an open question. Some families have reported a history of miscarriage in families carrying the duplication and voiced the question of whether there is a connection.

At this point there seems to be inadequate data to draw a conclusion. However, one research study crossed MECP2 Duplication Lab mice with other lab mice. Simple genetics would have predicted that 25% of offspring would have MECP2 Duplications, but researches found that only 11% of surviving offspring had the duplication (Alvarez-Saavedra et al., 2010). This strongly suggests that MECP2 duplication reduces the chances of fetal survival, but there might be some other explanation. In addition, even if true, the applications of these findings to humans is unclear.

So the question remains open at this time pending further research.

Alvarez-Saavedra, M., Carrasco, L., Sura-Trueba, S., Demarchi Aiello, V., Walz, K., Neto, J. X., et al. Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development. Human Molecular Genetics, 19(11), 2177-2190. [e-publication 2010/03/06].

Family Talk Update

Just a quick note to indicate that the information on the MECP2 Duplication Syndrome Family Talk FaceBook Group has been updated. Family members of individuals with MECP2 Duplication Syndrome are encouraged to consider joining the group.

Video

Pam Albert’s Plea to Tim Tebow

Here is Pam Albert’s Plea to Tim Tebow. She is trying to get this video to be viewed by as many people as possible to help get Tim Tebow on board to support her efforts to raise awareness of MECP2 Duplication Syndrome and raise funds for research. Continue reading

MECP2 Duplication Syndrome Family Map

Jason Moore created an interactive Google Map of the World indicating where families of individuals with MECP2 Duplication Syndrome live. You can view the map with this link. If you have a family member with MECP2 Duplication Syndrome, You can follow these directions to add your family location: Continue reading