It's Rare Disease Day today, so to mark the day, former UK Prime Minister David Cameron wrote a column in The Times to impart some lessons he has learned from having a child diagnosed with a rare disease.
Cameron's oldest son, Ivan, was born with a neurological disease called Ohtahara syndrome. Epilepsy affects 1 in every 200 children. Of those, just 1 in 500 are affected by Ohtahara, Cameron says.
"I will never forget the moment of being told that he was likely to be severely disabled. Sitting in the doctor's room. Trying to understand the immensity of what is being explained to you. All your hopes and dreams about the life your child is going to have and the realisation that it's not going to be like that. It's a shock and takes a huge amount of time to get over it — but we did. We were all devoted to Ivan and as a family we still talk about him all the time today," Cameron writes. "We were bowled over by the heroic attempts of doctors and nurses to treat and care for Ivan, but we were also reminded of how little we know about conditions such as epilepsy and some of its rare syndromes."
Cameron and his wife Samantha were offered genetic counseling if they were considering having more children. They had three more children. Ivan passed away in 2009 at the age of six.
Importantly, Cameron says, rare diseases really aren't that rare. "There are an estimated 350 million people around the world living with rare and undiagnosed genetic disorders, more than the number of people with cancer and AIDS combined," he writes.
Doctors faced with these patients are often forced to send out samples that are searched for one disease at a time. It takes time that patients don't have.
But Cameron believes that the solution is coming, and that it is clinical whole-genome sequencing. "Instead of looking at individual chromosomes, 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 percent of which are geneticaly based. All it takes is a blood test. It is that simple," he writes.
He cites the UK's heritage in DNA research: Watson and Crick, Frederick Sanger. And, he adds, as prime minister in 2013, he set up Genomics England to run the 100,000 Genomes Project, which aims to sequence 100,000 genomes from NHS patients with a rare disease and their families, as well as patients with cancer.
In order to keep making strides in this area, Cameron says, several things have to happen. Costs must continue to drop. There must also be a renewed focus on what happens after diagnosis: Currently, only 5 percent of rare diseases have an approved treatment, he notes. Pharmaceutical companies to be incentivized to research rare diseases and their possible treatments.
Cameron also announced that he is opening a school run by the charity Young Epilepsy, which conducts research on the impact that epilepsy and related conditions have on families.
"Over the next decade, genomics should transform the way we do medicine and healthcare," he writes. "Of course, that is not to say that it will always supply solutions. In many cases genomic sequencing can help to understand a condition for which there are only limited treatment options.... Yet what this did was provide answers where there had been only questions, reassurance where there had been only uncertainty. For patients and families going through the pain of a serious illness like this those things cannot be overestimated."
Genomics is hope, Cameron says. And it can be used to beat rare diseases.