Is there really an app for this?


13 January 2009 – The day my beautiful daughter princess Amily was born. I remember the day very clearly – in fact it’s etched onto my brain. I was sitting in the car, listening to the radio, and the Jim Reeves song Welcome To My World started playing. It was like a sign from the heavens, signalling the start of an amazing and fulfilled life.

What we weren’t expecting were life-changing complications when Amily was born. Her photo shows a cheerful young girl, but at a early age we were shocked to be told that some of her facial features, for example the widening of her eyes, the lowering of her ears, her slightly larger than average mouth, were indicators of a child with a genetic condition – but no one could tell us what that was. Initially, the many doctors we saw thought it was autism.

  • Estimates suggest that one in 100 people in the UK have autism
  • Four times as many boys as girls are diagnosed with autism
  • The number of diagnosed cases of autism has increased over the past 20 years, thought to be due to better diagnosis
  • There is no cure but there are a range of interventions available

For 4½ years we searched for answers, trusting the medical profession when they told us they couldn’t make a firm diagnosis. It was a really difficult time. We spent hours trawling through mountains of information on the internet, our minds going into a paranoid frenzy. We felt lost and helpless.

Here’s the problem

Screening tools are not used routinely in the UK and their use is potentially problematic as there are many factors affecting a child’s development and many other sensory, physical and mental health conditions that require specialist investigation.

Amily was to be part of the genome project. Up to 100,000 people in England will have their entire genetic makeup mapped in the first stage of an ambitious public health programme the government hopes could revolutionise treatment and prevention of disease. Sir John Bell, professor of medical sciences at Oxford University and the government's adviser on genetics, said the UK hopes to lead the world in the practical applications of DNA mapping, having been “very late to the game” in using other British-developed technologies such as CT and MRI scanning.

But we mustn’t miss out on the digital revolution either. Modern technological advances need to take their place in the diagnostic system.

It is beginning though. Earlier this year, in a keynote speech at a conference in the US, Dr Eric Topol suggested that “we have the components for a digital revolution”. Calling for an end to the current system when “only the physician has access to healthcare information”, he highlighted technological tools such as wearable wireless monitors and smartphone attachments that will enable patients to diagnose and monitor their own conditions. Click here for full article.

My idea

Being creative has its advantages and certainly enriches my life, but sometimes it’s really hard to switch off. So on 24 October when Oxford University phoned us to say that they had a diagnosis for Amily, I had a spark of inspiration. Amily has Pacs1, a genetic condition caused by a very rare spontaneous gene mutation. The doctor showed us a case study of two boys with the same condition. Their facial features were identical to Amily’s and they both had similar learning difficulties. I asked the doctor about the prognosis only to be told that the boys in the study were the only two in the world – Amily is now the third to have been diagnosed.

With the advances in mobile technology and medicine I wondered why there isn’t an app using facial recognition software and 3D imaging to scan the patient’s facial features and search through a database of other patients. I did an online search – and there is one. In 2007 the BBC reported a company that had developed 3D face scans ‘set to speed up the diagnosis of rare genetic conditions in children.

In fact, more than 700 genetic syndromes affect facial traits, but some, like Amily’s are difficult to spot because few cases exist. This new software has a 90% success rate. Professor Peter Hammond is currently using the technology at UCL London, but would like it to be rolled out across the UK.

My conclusion

The point I want to make is that the earlier you get a diagnosis, the quicker you can get help without getting tangled up in the NHS system. My app, idiagnose, would enable doctor and patient to use the accessibility of mobile devices to find information about the condition plus provide links to leading institutions and support organisations.

The possibilities are endless for example, recent advances have suggested that it’s possible to use facial recognition technology to diagnose depression.

And for parents like us, it could revolutionise the diagnostic process and remove years of uncertainty and confusion.

Video of Amily

Please take a look at the lovely video of Amily, she's a fabulous little girl and sees things slightly differently but her world is still as beautiful, interesting and important.