Get to Know WWOX Foundation
WWOX is an abbreviation of the name of an enzyme and associated gene called “WW domain containing oxidoreductase” located on Chromosome 16 at band 16q23.1-q23.2. An extremely rare recessive mutation of the WWOX gene causes a deficiency of this protein which has a severe impact on brain development. The resultant syndromes are known as SCAR12 (Spinocerebellar Ataxia-12) and EIEE28 (Early Infantile Epileptic Encephalopathy-28) or WOREE Syndrome (WWOX-related Epileptic Encephalopathy).
WWOX Clinical Features
Children affected by SCAR12 or WOREE syndrome display the following symptoms in varying severity: refractory epilepsy, profound global delay and severe cognitive impairment. Many children with WOREE Syndrome will not live through to adulthood with an average life expectancy of 4 years. At present there is no cure.
SCAR12. This syndrome is typified by early-childhood onset of cerebellar ataxia which means children are unable to coordinate the movement of their muscles. This in turn causes problems with walking, speech and also abnormal eye movements. Most children also suffer from generalised tonic-clonic epilepsy and psychomotor development delay, slurred or slow speech that can be difficult to understand, gaze-evoked nystagmus where the eyes make repetitive, uncontrolled movements. All children also suffer from a learning disability. They can also have muscle weakness, tight muscles, overactive reflexes and clonus. Mild cerebellar atrophy is usually visible on a brain MRI.
WOREE. Most affected children will present with seizures within the first two months of their lives. The seizures types vary but are typically focal or multifocal in nature. There is usually a progression to Infantile Spasms (West Syndrome) which respond poorly to the standard adrenocorticotropic hormone (ACTH), prednisone, and Vigabatrin therapies. Seizures largely remain refractory to most medications, although some children do attain a degree of seizure control after some time.
Get to Know WWOX Foundation
The WWOX Foundation is a charitable organization dedicated to promoting community awareness of WWOX related syndromes and supporting scientific research that aims to develop effective treatments and ultimately cure the syndromes.
The WWOX Foundation was formed by a group of parents with children affected by the devastating syndromes associated with WWOX deficiency.
Our goals are:
• Establishing a support framework for families with children suffering from WWOX deficiency.
• Providing financial support to researchers to pursue scientific endeavours related to WWOX.
• Connecting WWOX patients with WWOX researchers for ongoing clinical studies with a Patient Registry.
• Assist researchers with better establishment of the phenotypic spectrum of WWOX patients.
• Raise awareness in the medical community to allow quick and accurate diagnosis of WWOX related syndromes.
I am especially proud of ...
We are especially proud of the massive achievements on the scientific research front as a result of establishing a collaboration between a number of highly motivated scientists working towards a cure for WWOX related syndromes. We are also very pleased that we managed to connect with so many WWOX parents around the world, despite the disease being so ultra-rare.
Excited to REN because...
We believe that many genetic developmental and epileptic encephalopathies have so many similarities and we look forward to exchanging ideas and collaborate with other REN members as we all move forward towards improving the outcome of our children and ultimately finding cures for our respective genes.
My journey and motivation...
Like so many first time parents we were excitedly anticipating the birth of our first child Lucia. Unfortunately, from birth our daughter started suffering from devastating seizures and profound global developmental delay. A year of continued hospital admissions ensued before we finally received a diagnosis that our daughter was suffering from an extremely rare and as yet poorly understood genetic mutation affecting the WWOX gene with an average life expectancy of 4 years. Since that time we have established contact with many other parents of children also suffering from WWOX related syndromes and in conjunction with these parents, the WWOX Foundation was established. Lucia is 3 years old and still suffers from daily seizures. She is profoundly impaired and doesn’t have the ability to seat unaided, crawl, walk or talk. Caring for a severely disabled child has been very challenging but at the same time taught us as parents so much about the importance of acceptance, patience and also hope.Of course we would do anything to cure our daughter immediately, but not for one moment do we resent how our lives have changed. Life with Lucia has been a blessing and we love her to bits.
By Johann Mentz, Director/Founder