The story of Eddie
My sons name is Eddie.
Eddie has been diagnosed with VWA1 (combined heterozygote) related recessive hereditary motor neuropathy with myopathy associated with
o Progressive gait asymmetry associated with asymmetrical high-stepping deformity and also left cavovarus foot
o Slow motor development
o Weakness in the peroneal distribution>proximal leg weakness>axial
weakness
o Normally elicited DT reflexes and no sensory involvement.
Eddie didn’t start walking independently until he was 22 months. A few months after we notice his left ankle bending outwards and the foot bending inwards.
During the last few years Eddie has been for various XRays. Had MRI scan. EMG tests. Blood tests. He has Seen Orthopedic specialists, paediatric neurologists, physiotherapist and surgeons.
He has been diagnosed with Bilateral Pes Cavovaus in both feet as a result of his condition. He has little to no control in certain muscles in his legs and feet, because of this his other muscles work hard to compensate. This means he gets tired very easy. He struggles to keep up with his school friends.
It has not been reviewed in full but EMG shows the condition is also present in all his limbs and also in his tongue.
He is currently on week 5 of his serial casting in preparation for future surgery on his left foot/ankle.
We have been told that his ankle will not support him as he gets older and surgery is required. The surgery will not fully fix the deformity and the foot will not function properly in the long term. The surgery will also need repeating when he is older.
At time of diagnosis he was one of 33 in the world to be diagnosed with the condition. The condition was only discovered thanks to the 100,000 Genomes Project.
We do not know what the future holds for Eddie and are waiting for genetic counciling.
Dispute the hurdles he’s faced he rarely complains. To compensate he’s been given a determined stubborn personality to tackle any challenges.