Spread the news in July
July 2010 is officially designated as MECP2 Duplication Syndrome Awareness Month in the State of Pennsylvania, but it would be great if the rest of the world followed the lead of the Keystone state and joined in. Individuals and families affected by this condition need to raise public awareness as a first step toward improving treatment and quality of life.
So, there are two simple things that you can do to help:
One, take a few minutes to learn something about this condition.
Two, take a few more minutes to share what you know with one or two other people.
Here are 31 facts about MECP2 Duplication syndrome one for each day in July. Please consider sharing one or a few of these facts with two or three people you know and encouraging them to do the same during the month of July 2010.
1. The name MECP2 Duplication Syndrome is usually pronounced Mek-P-tu Duplication Syndrome but some people say M-E-C-P-tu Duplication Syndrome. It may also be called MECP2 Duplication Disorder.
2. The syndrome was first described in 2005 clearly enough to permit unambiguous diagnosis.
3. The actual incidence is unknown, but so far only a small number of cases (probably under 300) cases have been diagnosed. It’s actual incidence appears to be much higher, and as more cases are diagnosed, the actual incidence will be better estimated.
4. The syndrome is caused by having an extra copy of a gene called MECP2 which is normally found on the X chromosome.
5. Most people who have an extra copy of this gene actually have extra copies of several or sometimes dozens of other genes on the same area of the X chromosome. The effects of the extra copies of these other genes are poorly understood, but most of the features of the syndrome appear to be related to the MECP2 gene.
6. The number of other genes duplicated doesn’t seem to influence how severely the condition is expressed, but having additional extra copies (e.g., triplication instead of duplication) seems to frequently be associated with severe expression of the disorder.
7. The vast majority of individuals with the syndrome are boys or men, but a few girls also have MECP2 Duplication Syndrome.
8. Girls can can alo carry an extra copy of the MECP2 gene, but in most cases without any significant symptoms.
9. A few girls actually have the syndrome, usually because the extra copy is attached to a different chromosome.
10. MECP2 Duplication Syndrome can vary quite a lot in the severity of its effects, but it is generally a severe developmental disability and typically many of the effects worsen over time.
11. The major know features of the syndrome include: (a) low muscle tone as an infant through early childhood, (b) excessive muscle tone in arms and legs develops in later childhood, (c) severe to profound intellectual disability, (d) autistic or autistic-like behavior, (e) communication limitations (many seem to understand more language than they can produce), (f) immunodeficiency resulting in frequent severe infections, particularly pneumonia, (g) multiple forms of seizures generally appear later and are often poorly controlled by medication, (h) gastrointestinal problems (e.g., reflux, constipation, and pseudo-obstruction), (i) teeth grinding, and (j) drooling.
12. Infections and seizures often prove to be the most difficult to manage and potentially life threatening aspects of the disorder.
13. Other possible effects have been reported in some individuals but there is not enough data yet to determine whether they are effects of the syndrome or individual characteristics of those who have these symptoms.
14. The MECP2 gene implicated in this disorder is the same gene implicated in Rett syndrome but the nature of the problem is different. In Rett syndrome, the gene is damaged or missing and therefore is underactive. In MECP2 duplication syndrome, the gene is not damaged but there is an extra copy so it is overactive.
15. Perhaps surprisingly, many of the symptoms of Rett syndrome and MECP2 Duplication Syndrome appear to be similar, but some symptoms differ. Since these conditions are completely different at the cellular level, it is unlikely that any fundamental approach to treatment will help both conditions.
16. Treatment for or management of MECP2 Duplication syndrome is symptomatic.This means that treatment is based on managing specific effects, such as seizures or infections.
17. There is no known treatment for the condition itself, but in many cases the symptoms can be managed through good health care.
18. While it is generally understood that the condition shortens life expectancy, there is currently inadequate data to say how this effects life expectancy. Some individuals live only a few weeks or months, while others have survived into their 20s, 30s, and even 40s.
19.Cases have been identified in many different countries including Austalia, Canada, England, Finland, France, New Zealand, Norway, Scotland, Taiwan, and the United States.
20. Researchers are studying the condition both to in order to try to discover a treatment, to improve outcomes for those who have the condition, and to better understand the function of the MECP2 gene, which is currently only partly understood.
21. MECP2 Duplication syndrome has been artificially created in mice and this has helped to understand how it affects humans.
22. Right now, there is no promising approach to treatment for MECP2 Duplication Syndrome and any hope of a curative treatment appears to be a long way off.
23. Plans are currently being made for a conferece on MECP2 Duplication Syndrome, sponsored by Baylor College of Medicine, Texas Children’s Hospital and the Blue Bird Circle Rett Center on May 26 and May 27, 2011 in Houston, TX. The conference will be specifically geared toward families affected by the disorder.
25. Increased availability of new genetic testing methods such as chromosomal microarray analysis is leading to the identification of many more cases of MECP2 Duplication Syndrome.
26. Although seizures are reported in about half of all cases, they are less common in younger and more common in older individuals, so that seizures appear to be present in the vast majority of individuals who survive to adulthood.
28. Developmental milestones such as sitting up and walking are significantly delayed and some individuals never walk or use speech.
29. Of those who develop some speech and learn to walk, these skills are often lost as the condition progresses in adolescence or adulthood.
30. May individuals with MECP2 Duplication Syndrome enjoy music and water (baths and wading or swimming).
31. Children and adults with MECP2 Duplication Syndrome are mostly gentle souls who are cherished by their families and others who get to know them.