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‘I passed incurable disease to my son’
11:00am Friday 2nd March 2012 in Witney
TO discover your baby has an incurable rare genetic disease must be devastating for any parent.
But for Martin Balfour-Allen, the shock of discovering his son Samuel had the life-changing Tuberous Sclerosis was even worse.
That is because the 36-year-old had gone most of his life without realising he too had the condition, and had unknowingly passed it on to his child.
Tuberous Sclerosis (TS) causes growths to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs.
It is so rare that only one person per year is diagnosed with it in Oxfordshire and there are currently thought to be only about 50 sufferers across the county.
But the consequences of the illness can be devastating.
When Samuel started experiencing convulsions at the age of six months, Mr Balfour-Allen and his wife Sally immediately took him to see their GP.
The infantile spasms, which made it look as if Samuel was experiencing a painful ‘wince’, were dismissed several times as a symptom of teething pain.
It was only after months of further fitting the the Balfour-Allens from Witney took a video of their son having a spasm.
They then took it to their GP who diagnosed epilepsy, which can be caused by TS. A consultant later confirmed Samuel did have TS.
At the same time Mr Balfour-Allen, who lost a kidney 12 years ago because of a tumour, realised his own medical history of serious kidney, eye and skin problems, were also signs of TS, which had been missed over the years by successive doctors.
Mr Balfour-Allen said he feared the delayed diagnoses may have contributed to his son’s current condition.
The couple also have a daughter called Gabriella, six, who is unaffected by the condition.
He said: “When Samuel was finally diagnosed, I realised that the health issues I’ve experienced probably meant I had TS too.
“Looking back, I believe the doctors could and should have spotted my TS earlier.
“Had they done so not only would my own health problems have been better managed but more importantly my son would have been diagnosed at birth and could have received treatment that may very well have prevented the damaging seizures that have so profoundly affected him.”
Samuel, now five, has the development age of a one-year-old, severe learning disabilities and autism.
There is no TS specialist clinic in Oxfordshire and they are currently facing a battle to persuade NHS Oxfordshire, the county’s primary care trust, to approve a referral to a specialist clinic in Bath.
NHS Oxfordshire said the case was being considered by a specialist panel.
A decision would be taken over the next few weeks.
Mr Balfour-Allen said: “No one should have to fight for access to healthcare for their child.”