One of colleague's daughter, Evie, was born in February 2010.  From day one she was a very poorly girl and spent her first few years in and out of hospital with hypothermia, pneumonia and breathing difficulties.  Her parents knew she wasn’t progressing as she should as she couldn’t walk or talk.  Despite endless tests Doctors were unable to find the cause of her difficulties.  In March 2015, following a research paper from Southampton University, and their participation in a research study, they finally received a diagnosis. Evie has an extremely rare genetic condition called PURA syndrome.  At the time of diagnosis, she was one of only four known cases in the world.  Two years on the PURA family has grown and there are now 105 known cases.  These are mostly children but with the increasing use of the latest ‘gene sequencing’ technology, it is expected that many more people will be diagnosed with this condition over the next few years (including adults).

The most common symptoms of PURA syndrome include:

• Developmental delay

• Seizures  / epilepsy

• Movement disorder and non-epileptic movements

• Low muscle tone (Hypotonia) at birth and throughout childhood

• Hypersomnolence (excessive sleepiness) in the neonate period and into infancy

• Hypothermia at birth and temperature instability throughout childhood

• Feeding difficulties

• Breathing problems

• Eye sight conditions

• Sensory processing issues

• Orthopaedic issues - including Hip Dysplasia and Scoliosis

• Non verbal / no speech

The University of Southampton is carrying out vital research into this newly discovered condition to:

• Characterise the full spectrum of disease in PURA syndrome and the long-term prognosis.
• To determine possible connections between the gene mutation and the specific findings in the child. This may help us predict what to expect.
• To identify major quality of life issues and identify common care needs.

To do this it will be essential to collect a register of all PURA patients, keep accurate records of all signs and symptoms, and analyse this information so we are able to provide detailed knowledge of the disorder both for patients, families and their doctors.

If you would like to support this invaluable research and help them
find out more about what lies in store for these kids please make a donation.  Thank you.