From collecting data from connected wristbands to undertaking self-diagnosis on the Internet, patients are becoming increasingly ‘engaged’ with their own illnesses – to the point where they’re now even helping to develop their own treatment.

In 2013 some 35% of all US citizens used the Internet “specifically to try to figure out what medical condition they or someone else might have”, according to a report from the Pew Research Center. Indeed people coping with illness are no longer content to remain passive. Technologies has enabled them to do something to try to understand their medical condition – whether that means using devices to detect an anomalyforewarn of epileptic fits or drawing on the encyclopedic knowledge available on the Internet. Roughly 1% of the billions of Google searches carried out every day are symptom-related. With this in mind, some months ago the leading search engine specialist launched a ‘symptom search’ tool, providing cards listing the symptoms of the condition you’ve typed in, and detailing any action that should be taken.

When an illness is rare and there are very few – or only costly – solutions available, or even no treatment available at all, patients tend to get even more involved and may even go so far as to participate in the development of treatments. “As a patient or a parent of a patient, you may feel desperate and want to find a solution at any price. For rare illnesses, you’ll be tempted to turn to large pharmaceutical firms and clinical trials to get help,” points out Cynthia J. Frank, a patient and lobbyist who has lived through all this. 

Collaboration increases understanding of the illness and patients’ needs

When I was diagnosed, there was no treatment and the doctors didn’t think I’d live beyond 30,” recalls this sufferer from Gaucher’s disease, a condition which, according to the US non-profit National Organization for Rare Disorders, affects close to 6,000 people in the United States. Over the last 30 years, Ms Frank has followed a range of treatments and has collaborated with a number of medical companies in order to help them find a cure, the latest being San Francisco-based Blue Turtle Bio Technologies. In tandem with Adham Aljahmi, the startup’s cofounder and CEO, Ms Frank told the audience at the Hello Tomorrow Future of Healthcare event in San Francisco in December just how useful it is when patients and companies team up and work together.

Explained Adham Aljahmi: “When we set up the company we could have just continued to read everything available about Gaucher’s disease on the Internet, but we would never have got to know as much as we have without recruiting Cynthia and talking to her about her condition. The sooner you start working with a patient the faster you progress.”  He argues that success for a company in the sector depends on precisely this sort of collaboration. “Not only have we learned more about the disease and what you have to treat – Cynthia has enabled us to save a lot of time by telling us which are the best articles and reports to read – but we’ve also been able to understand patients’ difficulties and needs,” he told the Hello Tomorrow audience.

Adham Aljahmi and Cynthia J. Frank discussing patient-medical startup collaboration at ‘Hello Tomorrow – The Future of Healthcare’ in San Francisco.

In the case of Gaucher’s disease, for example, the currently available treatment is very costly. “My treatment costs $310,000 a year,” revealed Cynthia Frank. “It’s tough. I worked for the National Gaucher Foundation for eleven years, but the Foundation couldn’t pay for my health insurance – which is ironic for an organisation which is itself working to combat the disease. I had to go through my husband to get insurance.” The patient came to realise that her co-sufferers ought probably to look for a job that would provide an appropriate medical insurance policy. Meanwhile she is hoping to be able to help develop more affordable treatment.

The challenge for startups: finding doctors, scientist and… patients

A patient like Cynthia, who is well integrated into her community, is also able to introduce you to doctors and researchers working on the disease. These are people she’s known for thirty years and it would have taken a lot of time and effort to get in touch with them ourselves,” underlined the Blue Turtle founder, explaining: “Today, most companies still wait for the clinical trials stage before getting involved with patients, and that’s a mistake.” Moreover it’s easier to meet patients via other patients. “If just one person is convinced [we’re doing something positive], then s/he will want other people suffering from the same condition to benefit too. We were very lucky with Cynthia; she was the one who created the Facebook group for people suffering from Gaucher’s disease”, acknowledged Adham Aljahmi.

Finding patients to test out a treatment in clinical trials is a real challenge when the treatment is for a rare disease. If by definition only few people suffer from rare illnesses, fewer will accept having their lives disrupted and inflicting a series of tests on themselves when there is no guarantee of finding a better treatment

That’s also a reason why it’s important to understand the requirements and the sacrifices a participant has to make when going through a clinical trial,” pointed out Cynthia Frank, who helped develop the first treatment, produced in 1991 by Massachusetts-based American biotechnology company Genzyme Corporation.

Patient engagement makes all the difference

It was a difficult time for me, I had to do the return trip in a day, lose two days’ work a month, to hide the physical and physiological discomfort,” recalls the Gaucher’s sufferer. “At that time I was doing it for my own good; I had no other choice if I wanted to get better, or cope better with the disease. Now I’m doing it to make a difference, because a new treatment could be used to treat a number of illnesses and so help millions of people.”  And also because the existence of a remedy should not be taken for granted.

This is the lesson to be learned from the problems experienced by Cerezyme, a drug whose production had to be halted and then run at a lower rate for a time after the factory became contaminated by a virus in 2009. As the manufacturer, the Genzyme Corporation, did not have enough of the drug in stock, it had to ration deliveries, and then was subsequently taken over by French firm Sanofi. During this time, patients turned to a competitor which had just managed to obtain US Food & Drug Administration (FDA) approval to market its own treatment.  

That was nearly eight years ago but some people are still very angry with Genzyme because the company wasn’t able to go on protecting them,” Cynthia Frank underlined. Patient engagement generates a special relationship with the firm concerned but that doesn’t guarantee loyalty. If a cheaper treatment comes on to the market, you are quite justified in changing your supplier, she argued. However, Blue Turtle Bio Technologies is very clear about the need to care about patient wellbeing. “When a patient helps us, we ought to take care of him or her, and not only on a therapeutic and medical level,” stresses Adham Aljahmi.

The FDA has also taken on board the importance of really understanding patient needs. Since 2013 the US agency has held 21 disease-specific meetings with patients suffering from the illnesses in question and asks them to fill in forms on their perception and priorities. In the coming years, the FDA is planning to take on extra staff who will focus on patient engagement and to draft a number of regulations requiring the collection of information and patient opinions, including during clinical trials, and mandating the disclosure of this information when marketing treatments. The regulators might also be more inclined to work with firms that develop drugs in conjunction with the people affected. Patient engagement certainly seems to have a future.


By Sophia Qadiri
Managing Editor & Journalist