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About this blog

This blog is intended to share information of interest to  families affected by MeCP2 Duplication Syndrome and others who are concerned about those with this condition.  It is important to remember that each individual who has MeCP2 duplication is unique. What works well for one, may not work for others. The information shared on this site should not be considered medical advice. Therefore, it is essential to consult with your family member’s physician  before applying medical interventions discussed on this blog.

This blog is designed as a partner site to www.mecp2duplication.com. If you have a child or family member, who has MeCP2, please visit that site and consider adding your family to those already listed on the site. That website also includes a discussion forum for communication among interested parties.

About the Editor

Dick Sobsey is a Professor of Educational Psychology and Director of the John Dossetor Health Ethics Centre at the University of Alberta in Edmonton Canada. He has worked with children and adults since 1968. He is the coauthor of Educating Children with Multiple Disabilities and is Assocate Director of the JP Das Developmental Disabilities Centre. He is also the father of an 19-year-old son with MeCP2 Duplication Syndrome. More about David is included on  www.mecp2duplication.com.

4 responses to “About

  1. JoAnne, Australia

    A welcome site. And pleased to see the qualifications of the editor. I am grandmother of a boy with MecP2 duplication in Australia. We have been becoming aware of the rare/not rare situation; that there are probably many more undiagnosed older boys out there.
    For promoting research funding, we need to find out more about prevelance (requires it’s own research funding!). I was interested/encouraged to see “Xq28” as part of your heading. And that is mostly what has prompted this message.
    Our boy has duplication of nine genes from distal Xq, so we are feeling we need to direct our attention, for support and research to “distal Xq” (or Xq28) rather than just MecP2 – but we haven’t been able to find anything looking at all these things together. A quick perusal of your listed bibliography indicates that MecP2 is considered to be the most important gene in this area (I have also gained the impression that Xq28 is a ‘weak point’). But we have looked up the other genes and they all have significant effects, some apparently already well known in relation to mental impairment, also luekemia. Currently in Australia the best place for us to turn is Rett groups. On the net we have now found this blog, and the linked MecP2 site.
    However we feel strongly that Xq28 duplication/mutation is the “banner” we need to go under, in relation to promoting research, and perhaps more importantly where to look for support, and what to expect. But medical/research people we have contacted seem currently focussed on MecP2. Interestingly our boy, unlike most of the MecP2 dup boys is tiny, but perhaps more seriously interesting is that so far he has shown no particular susceptibility to infection. We understand that other boys will have duplication of a different range of genes at Xq28, and perhaps MecP2 is the one that matters (rather than just the flavour of the month) however it seems that the other genes are not insignificant, and that focussing on MecP2 alone will not provide the whole picture. We are interested in talking/corresponding with people with a bit more understanding (than us) of “the whole picture” in relation to Xq28 duplication. [we are also aware that the chances of research being able to help our boy are not high, still there is the feeling of the need to know, and to do something. We are aware that what information there is is new, and everyone is ‘feeling their way’].

  2. Thanks for the kind words on the website.

    Our knowledge about MeCP2 Duplication Syndrome is clearly in its infancy, and almost everything that we currently know, we need to consider as being tentative. There have only been a fairly small number of cases diagnosed at this time. Since diagnosis is not a random process, we really don’t know if the diagnosed cases are the same or different as the undiagnosed cases. For example, we could discover that there are many cases with milder symptoms that have so far gone undiagnosed because there is less reason to exhaust diagnostic possibilities in the absence of major difficulties.

    While a lot of the other genes in the are are important in the sense that they can cause serious problems if they are absent or defective, so far they do not seem to have major effects as a result of duplication. In addition, regardless of the length of the duplication or whether the MeCP2 gene is near the proximal or distal end of the duplication, boys with the MeCP2 gene duplication do seem to have similar clinical pictures. So while there is a lot to learn about the effects of duplication of all of the genes, the current focus on the duplication of teh MeCP2 gene makes sense.

  3. I have a 20 month old little boy who has Xq28 duplication involving MECP2. He got tested at 15 months. We haven’t any clue as to what to do next…I would love to know where we go from here.
    We are active duty in the Navy and we would like to know where the best place for care and job placement for my husband would be! Help!

  4. Hi Laura,
    I don’t think there is one right or simple answer to this, but here are some thoughts. Some information and the chance to link with other families is available through this site and through http://www.mecp2duplication.com/ Other parents of children with MECP2 Duplication syndrome are very willing to share their ideas and experiences. If you click on the COMMUNITY tab on http://www.mecp2duplication.com, you can join in a discussion that is a great place for asking questions and collecting ideas.

    The Doctors who are known as the leaders in this field are at Baylor in Houston. Dr. Melissa Ramocki is probably known as the leader in clinical treatment. So, if it happens to work out to be somewhere around Houston, that might be a good bet.

    In my opinion, the most important thing is to establish a good working relationship with a committed and willing to learn pediatrician. It is less important that he or she is an MECP2 Duplication syndrome specialist, because there are very few who can say that and because we are so much at the beginning of understanding this condition that even the most knowledgeable have limited information. Also, while this diagnosis is helpful in understanding your child, every child with this condition is highly individual and needs unique treatment. Therefore, having a doctor who can take the time to become an expert in knowing your child is at least as important as a doctor who knows the syndrome. The best doctors treat patients not disorders.

    This means that staying in one place may be an advantage, and that is sometimes hard to do in military family lifestyle. It MAY be possible for your husband to ask for an assignment to one location considering special family circumstances.

    Best wishes to you and your family

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