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 discovered in 2005. 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.
Research into MECP2 duplication syndrome is in its infancy, which means we also do not know the spectrum (mildness to severity). Preliminary studies suggest that prevalence may be 1.8 per 10,000 live male births. 50% of cases do not live beyond 25 years of age.
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.
In 2013 Van Wright Foundation funded the establishment of a database of MECP2 duplication syndrome cases, so that scientists can better understand the disorder. If you have a family affected by MECP2 duplication syndrome, please register them at the link below:
www.interrett.org.au and follow the link ‘Join InterRett/MECP2 Duplication database’
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.
The Van Wright Foundation will not rest until a cure for the children affected by MECP2 duplication syndrome is found. We invite your support.