Former Prime Minister David Cameron has revealed how his late son’s diagnosis with a rare neurological disorder devastated his family – but how scientific breakthroughs could help parents who find themselves in a similar situation.
Mr Cameron’s eldest child, Ivan, was born in 2002 but by his second week he was rapidly losing weight and making jerky movements. He was eventually diagnosed with Ohtahara syndrome – a rare neurological disorder characterised by seizures. He died in 2009 aged just six years old.
The former Prime Minister said the news hit him and his wife Samantha ‘like a freight train’ – and that the condition was so rare ‘there was barely a diagnosis – yet alone a cure.’
Mr Cameron’s eldest son, Ivan, was born in 2002. He was forced to undergo dozens of painful tests before he was eventually diagnosed with rare neurological disorder Ohtahara syndrome
Today, writing in The Times, the former MP for Witney revealed how Ivan was forced to undergo dozens of often painful and invasive tests before doctors knew he had Ohtahara syndrome.
But, Mr Cameron adds, new and advanced genomic testing could end the anguish of uncertainty for parents of children with such rare neurological disorders.
He said: ‘Different treatments are tried, some with excruciating and potentially damaging side-effects. Huge efforts are being made on your child’s behalf, but no one knows exactly what is wrong or how to make it right.
‘In many cases the doctor is unlikely to have seen a patient with the same condition before. They are left to rely on intuition and antiquated tests to determine which of the 7,000 rare diseases may be affecting the child.
Mr Cameron with his wife Samantha and children (from left) Ivan, Nancy and Elwen
‘This gruelling process can go on for months, even years. If a correct diagnosis is eventually made it is often too late to undo critical damage that has already been done to the child’s development.
WHAT IS OHTAHARA SYNDROME?
Ohtahara syndrome is a rare complication of epilepsy, affecting just one in 500 sufferers, and boys more than girls.
It is caused by an underlying structural brain abnormality which may have a genetic origin or is the result of brain damage.
It is rarely an inherited disorder and it is thought only four families in the world have two affected children.
Seizures start before the baby is three months old. Most die before the age of three, often due to chest infections or pneumonia.
A phenomenon known as sudden unexplained death in epilepsy is also a constant fear.
Babies with Ohtahara syndrome – first described 30 years ago – are often very floppy, excessively sleepy and over time develop stiffness in their limbs.
Medication has limited effect and the children make little developmental progress, being totally dependent on others.
They often feed poorly and their sleep is punctuated by seizures and muscle spasms – between ten and 300 every 24 hours, which make round-the-clock care a necessity.
‘Yet we are on the brink of a huge breakthrough. Instead of looking at individual chromosomes [through genome sequencing] we can sequence the whole genome, determining the unique ordering of three billion letters found in almost every cell in a person’s body. Rather than testing one disease at a time, this process simultaneously can test for all rare diseases, 80 per cent of which are genetically based. All it takes is a blood test. It is that simple.’
Though Ivan’s condition meant he could not move his limbs or speak, the Camerons drew strength from the fact that he appeared to respond to their love and care.
‘Ivan’s only self-conscious movements are to raise his eyebrows and to smile,’ Mr Cameron said in 2004. ‘And his smile – slightly crooked, sometimes accompanied by a little moan – can light up a room. It never fails to make me both happy and immensely proud of him.’
But asked once if he thought Ivan enjoyed his life, he replied: ‘Oh, not really, I think his life’s very tough.’
Managing Ivan’s condition was an intensive process and he was given as many as 20 different drugs a day. There were regular emergencies caused by seizures, infections and changes in his blood pressure.
In both 2002 and 2003, Mr Cameron had to abandon the Tory party conference because Ivan was in hospital.
Mr Cameron added: ‘We were all devoted to Ivan and as a family we still talk about him all the time today.’
WHAT IS WHOLE GENOME SEQUENCING?
Whole genome sequencing allows researchers to read all the little bits of code that make us who we are.
The human genome is composed of more than three billion pairs of building-block molecules and grouped into some 25,000 genes.
It contains the codes and instructions that tell the body how to grow and develop, but flaws in the instructions can lead to disease.
Many argue giving patients the blood tests will allow doctors to spot rare diseases caused by genetic mutations.
Former Prime Minister David Cameron set-up a project to sequence 100,000 genomes for NHS patients with a known rare disease or cancer.
Chief medical officer Dame Sally Davies wants to set up a central genetic database within the next five years to aid research.
She said genetic testing should become as routine as an MRI scan, although patients would have the opportunity to opt out.
The first decoding of a human genome – completed in 2003 as part of the Human Genome Project – took 15 years and cost £2.15 billion ($3bn).