Drooling: Pros & Cons of Treatment

CAUTION2Many children and adults with MECP2 duplication syndrome excessive drooling. Some are treated medically to reduce this problem. This post discusses some of the pros and cons of medical treatment for drooling. Ptyalism and sialorrhea are medical terms that are medical terms that are sometimes used as synonyms for drooling although their precise definitions may differ slightly.

What causes drooling? There are two major Continue reading

MECP2 Duplication Carrier Status: Part 1

XxThis is a topic that I have been somewhat reluctant to write about for couple of reasons. First, since this is something that directly affects women, perhaps a woman’s perspective would be more appropriate. Second, while there is some interesting information that has emerged on this topic, most of it is fairly tentative at this point, and there are few well-established facts. Nevertheless, there have been a couple of recent developments that make me feel that this might be a good time to summarize some of the information that is available. First, because some women in affected families have been requesting this information. Second, because a recent research article has helped shed a little more light on the topic. So, I will try to summarize some of the available information here.

Who are carriers?

In most cases, the mothers of BOYS with MECP2 Duplication Syndrome also share exactly the same duplication on one of their two X chromosomes. This is not usually the case for most girls with MECP2 Duplication Syndrome. Since the mothers who carry this duplication do not have the major symptoms, we do not say that have the syndrome, but because they can pass the duplication on to their offspring, we refer to them as carriers.

Of course, some women who are carriers do not have sons with the syndrome. If a carrier has a son, there is only about a 50% chance that he will have this syndrome. Some would argue that the chances are even a bit less than 50% for reasons explained later. In the vast majority of cases, daughters of carriers will not have the syndrome, although there can be rare exceptions, however, there is 50% chance that daughters will also get the duplication and be carriers.

Why don’t carriers have major symptoms of the syndrome?

Because females have two X chromosomes and always inactivate one in each cell, they can protect themselves by selectively inactivating the X with an extra copy of MECP2. In most cases, some process allows the body to detect the X chromosomes with the extra MECP2 and selectively inactivate it. This is sometimes referred to skewing, and in most cases females carriers are able to selectively inactivate nearly 100% of the Xs with the duplication.

Can men be carriers?

Men cannot be carriers in this sense. Since men only have one X chromosome, they can not inactivate it. If they have the duplication, they will have the syndrome. To the bast of my knowledge, no male with the syndrome has fathered children, so they do not pass it on. If a man who had the syndrome fathered children, boys would presumably be unaffected, because men do not pass an X chromosme to their sons (the exception might be if the duplication was translocated to another chromosome. If they fathered a girl, she presumably would be a carrier, since she would get the affected X from her father.

This is Part 1 of a series.  . Part 2: “Do Carriers have symptoms” will follow


Multiple Seizure Disorders?

SeizureThis post expresses my personal opinion. It is merely a theory for discussion and possibly a hypothesis that will or will not be supported by evidence over time. Simply stated, my theory is:

A: There are different kinds of seizure disorders.

B. It is possible for an individual to have more than one kind of seizure disorder.

C. Individuals with MECP2 Duplication Syndrome often have multiple seizure disorders. Continue reading

Touch, Autism, and MECP2

flaskResearchers at Harvard University are suggesting a new theory of autism. They are raising the possibility that atypical neurological responses to touch can play an important role in developing symptoms of autism, and suggesting that abnormal levels of MeCP2 levels in cells that respond to touch can be critical to the development of symptoms of autism.

Experiments with a number of types of genetically engineered laboratory mice, they found autistic-like behavior developed in those without MECP2 activity in touch cells, but not if normal activity was present in touch cells but not in other cells in the body. There are a number of cautions in interpreting this finding and the associated theory, but there are also a number of general observations that make this theory enticing. Continue reading

Genetic Alliance UK -Patient Voice Survey

strThe genetic Alliance UK is currently conducted a survey on “Impact of MECP2 duplication syndrome on patients, families and carers.” If you are a carer or family member, please consider completing this survey.
This survey will close on Sunday 12 June 2016 – if you wish to contribute after this date please email beth.mccleverty@geneticalliance.org.uk


Huda Zoghbi & Adrian Bird Honored

shaw31 May 2016 Today it was announced in Hong Kong that 2106 Shaw Prize in Life Sciences and Medicine will be shared by Professors Huda Zoghbi and Adrian Bird:

for their discovery of the genes and the encoded proteins that recognize one chemical modification of the DNA of chromosomes that influences gene control as the basis of the developmental disorder Rett syndrome.

We are extremely fortunate to have these outstanding researchers working on MECP2 related disorders. The Shaw prize is the latest in a long list of honors recognizing their contributions to the field.

Directory Photos: Family Talk Members

MECP2FTFBThis post is intended only for Members for the MECP2 Duplication Syndrome Facebook Family Talk Group. Group membership is limited to family members of individuals with MECP2 Duplication Syndrome

Our MECP2 Duplication Syndrome Facebook Family Talk Group Photo Directory currently includes photos and some information about 167 individuals.  It has been about a year since we invited photos, so I am renewing the call for photos at this time.

To include your child (who has this syndrome) in this album, please e-mail a photo to mecp2familytalk@shaw.ca
Please include the child’s name, date of birth, and the country where you live. If you would like, you are also welcome to include the names of family members, city and state,  date of diagnosis, and other relevant information.
If the pictured is deceased, you may choose to indicate when they passed away.

You can use the same e-mail address address to send a newer photo or update previous information, but only one photo of each individual will be included in the directory so newer entries will replace older ones.  NOTE: if you are updating a photo, you will probably need to include all the associated information as the previous information normally is lost when the old photo is replaced.

To view the directory album, you must be signed into facebook and be a member of the MECP2 Duplication Syndrome Family Talk Group. The directory album can be found at here.


Educating Students With Severe and Multiple Disabilities

Orelove-1b…Time for Some Shameless Self-Promotion

I am really happy to announce that the 5th edition of Educating Students With Severe and Multiple Disabilities is finally on the brink of publication. In addition, to the 4  previous English editions, an Arabic and Korean Edition have also been published over the three decades since the first (1987) edition (pictured below)

51mImEM3Z7L._SX331_BO1,204,203,200_Through all of those years I have been pretty passive about trying to promote sales of these books. This hasn’t been due to humility on my part; I think I have just been a little too socially awkward and insecure to make a sales pitch. Continue reading

Sisters and Brothers

Family Together - Parents and Kids, WheelchairBrothers and sisters  growing up with sibling with severe and multiple disabilities often are required to make sacrifices that most other children do not have to make. Parents often feel guilty about neglecting their other children when they are overwhelmed with the urgent demands of a child with ongoing urgent needs.

Before going on with this discussion, I need to issue a disclaimer and apology. Writing about this topic, it is tempting to present it like I have it all figured out, like everything is and always was under control, and like I always handled things perfectly. Unfortunately, that is not the case, and I am sorry for those times that I fell short as a dad. Nevertheless, I do think there are a some thoughts that are worth sharing, and I am passing them along for what they are worth.

At times. it is hard on siblings growing up with a brother or sister with intensive needs. It is also difficult for parents who want to be fair to all their children, when one has needs that are so much more frequent and urgent than the other. Continue reading

Unity, Strength, Hope Conference


This is a reminder about the upcoming conference on MECP2 related disorders in June. This event is really two conferences in one: (1) A family conference for those whose family members are affected by Rett syndrome, MECP2 duplication syndrome, FOXG1 syndrome, CDKL5 disorder, or other MECP2 related syndromes., and (2) a concurrent professional and research symposium on the same disorders. The conference will take place at the Eaglewood Resort in Illinois, June 22-24, 2016.