When Ethan was born in 2008, his little body was completely floppy. Specialists told his mum and dad to expect the worst.
Ethan has congenital fibre type disproportion with the faulty gene being ACTA1. While he is a typical little brother, he is also a unique little boy. Doctors call him ‘child 3’, as at the time of diagnosis he was only the third child in Europe that they knew of with this specific diagnosis.
Ethan’s floppy little newborn body sent the medical specialists into a flurry. In fact, for the first year of Ethan’s life, his parents said they went through a rollercoaster of potential diagnoses followed by temporary relief as Ethan had tests and then they returned negative. Considering the possibility that they might never get a diagnosis, Ethan’s parents were surprised when the paediatrician suggested he should have a muscle biopsy and some further blood tests when he was just over a year old.
About three months later, Ethan was diagnosed with congenital fibre type disproportion. Not only that, but the genetic consultant had located the faulty gene – ACTA1 – making Ethan’s diagnosis almost one in a million. After his mum and dad were tested, it was found that neither had any trace of the faulty gene; Ethan’s faulty gene had appeared spontaneously.
The prognosis for Ethan is very much unknown. His parents say they really just manage the symptoms. The breathing muscles are often affected in CFTD and this has happened in Ethan. Tests showed he was not breathing fully overnight and Ethan is now on overnight ventilation, which has made a huge difference.
He also has regular hydrotherapy, which has helped him to develop his strength and mobility, and he uses his powered wheelchair when he goes to nursery, to the respite centre and on outings.
Ethan is a lively, smiley, witty little boy who is the class clown at nursery school, who annoys his older sister and who absolutely loves cars. He has a loving family around him, all the care and support he needs, specialist equipment, a cupboard filled with toys and a big sister who keeps him in line.
A strong future is the least he can ask for.