The Holland and Wright families, who both have children affected by MECP2 duplication syndrome, open up about their experiences on the 7.30 Report, in an effort to raise awareness and funds in the hope of finding a cure.
Dr Carolyn Ellaway from Westmead Children’s Hospital suggests that more cases of MECP2 duplication syndrome will be diagnosed now that there is widespread use of a genetic test that detects the condition.
MECP2 duplication syndrome was first described in 2004, after initial discovery in 1999. It is a progressive neurological disorder, mainly affecting males. Common features include infantile hypotonia (low muscle tone), global developmental delay, intellectual impairment and/or autistic traits including absent or limited speech and/or repetitive behaviours such as stereotypic hand movements (hand wringing, flapping, mouthing), recurrent respiratory infections, epilepsy. Other signs and symptoms include ataxia (wobbly movements), gastro-oesophageal reflux, severe constipation, feeding difficulties.
The genetic abnormality that causes MECP2 duplication syndrome is a double dose or duplication of the MECP2 or Methyl CpG binding protein 2 gene. Mutations in the MECP2 gene are most commonly associated with Rett syndrome in females. The protein made by the MECP2 gene, called MeCP2, plays a pivotal role in regulating brain function. Too little or too much of the MECP2 protein results in brain dysfunction and physical impairment.
Advances in genetic testing and more widespread use of Array CGH (Comparative Genomic Hybridization) has lead to increased diagnosis of MECP2 duplication syndrome. Array CGH allows for sub-microscopic (cannot be seen under a microscope) detection of missing or additional copies of genetic material and is the best screening test for a child with developmental delay as it will detect a number of genetic disorders including MECP2 duplication syndrome.
Currently, there is limited research about MECP2 duplication syndrome, we do not know the prevalence (total number of cases), which means we also do not know the spectrum (mildness to severity). Preliminary studies suggest that the MECP2 duplication syndrome may be quite prevalent, and that it may be the cause of 1–2% of cases of X-linked intellectual disability. We do know that in some, MECP2 duplication syndrome can lead to early death. This is why we need to fund research and find a cure.
Genetic research is rapidly making world altering breakthroughs, including the area of Rett syndrome (same gene affected in MECP2 duplication syndrome). Our fundraising efforts will mean that advances in Rett syndrome research can be applied to research for MECP2 duplication syndrome. Be a part of the cure.
1. Rett Syndrome Research Trust, USA
Research for a cure of MECP2 duplication syndrome.
A variety of projects are in the pipeline awaiting funding. These include a gene therapy approach to knocking down the level of Mecp2 protein, projects aimed at better understanding and addressing the immune issues in the syndrome and genetic and compound screens aimed at identifying genes and compounds which can modulate levels of the protein.
2. Telethon Institute for Child Health Research, Australia
Establishment of a global database for MECP2 duplication syndrome.
Our first project, funding the establishment of an MECP2 duplication syndrome database was achieved in February 2013, amount funded $20,000.
The MECP2 Duplication Syndrome Database will allow exploration of the phenotypes of MECP2 duplication syndrome as well as provide information on prevalence and spectrum of the disorder. Funds are required in the set-up of the project, including ethics approval, staffing the project, and questionnaire development. Funding required for project: $20,000.
The Van Wright Foundation is a non-for-profit charity established in March 2012, by Collene and Phil Wright, the parents of Van Wright. In November 2011 at 15 months of age, Van was diagnosed with MECP2 duplication syndrome. There was so little information about this disorder at the time that even the medical team who gave the diagnosis had not heard of it. Getting a diagnosis was a struggle. From that point Collene and Phil vowed to raise awareness of MECP2 duplication syndrome and fund research so that a cure may be found.
Our focus is to raise funds for research into a cure, drive activities that will increase awareness, bring newly diagnosed families together and be involved in the establishment of a register of cases of MECP2 duplication syndrome.
We have connected with the medical community in Australia to ask for their assistance in raising awareness; Dr Carolyn Ellaway, Prof John Christodoulou, Dr Helen Leonard and Dr David Amor. Further afield in the USA, we have reached out to Dr Melissa Ramocki and Dr Huda Zoghbi.
We have established a relationship with Monica Coenraads, Executive Director of Rett Syndrome Research Trust in the USA www.rsrt.org, who is the primary beneficiary for our fundraising efforts. MECP2 duplication syndrome families the world over are fortunate to have the resource that is RSRT. We are also working with Pam Albert in the USA. Pam has been at the forefront of developing ties with the medical community in the USA and bringing families around the world together to fight this disease through her website www.mecp2duplication.com.
The Van Wright Foundation will not rest until a cure for the children affected by MECP2 duplication syndrome is found. We invite your support.