Rare disease: the importance of getting the right support

By Dan Lewi:

As we approach Rare Disease Day on 28 February, it puts into perspective the estimated 300 million people across the globe living with a rare disease. Those individuals often go through a very difficult time getting a diagnosis in the first place and many struggle to find support within their communities which can lead to feelings of isolation. In the rare disease community, we call this the ‘diagnostic odyssey’ and sadly it is an all-too-common problem.

I know from first-hand experience after my eldest daughter, Amelie, was diagnosed with Tay-Sachs disease at just 15 months. Amelie sadly passed away in 2017 at the age of 8 and at the time of her diagnosis we found it incredibly hard to find the right information or know which resources to trust. In her honour, my wife and I set up a charity, Cure and Action for Tay-Sachs (CATS), in June 2011 to help families going through the same experiences we did.

Amelie with her brother and sister

Though there are over 7,000 known rare diseases in the UK, and one in seventeen people are expected to be affected by one within their lifetime, there is a significant lack of support available. Many have to undergo gruelling medical tests as part of the diagnostic odyssey. Once they receive their diagnosis, it is often extremely difficult to find reliable information on treatments, symptom management and local support.

We struggled with this when we were trying to learn more about Tay-Sachs after Amelie’s diagnosis which is the primary reason why we decided to set up a charity to unite our rare disease community. I still remember when we were given her diagnosis, not having an idea what the disease was or what her future would be. We were told it was a lysosomal storage disorder (whatever that meant) and that she would probably die before her third birthday after losing the ability to function independently. On my lap at the time of being told this was a babbling, smiling, happy little girl eating her favourite snack and there was no way we could imagine that she’d end up in a wheelchair, unable to sit, walk, talk, hear, see and requiring a tube directly into her tummy to eat. On top of this, we were told not to google the disease as it would be too scary to read online. We were handed a standard NHS style leaflet that was very technical talking about enzyme levels, genetic mutations and death. As a young family with our first child it was frightening, confusing and distressing.

Amelie with Patricia

In order to help promote accurate, well-researched information from professionals for CATS, I joined the Cognitant team. Cognitant is the company behind Healthinote, the go-to source for trusted health information which enables clinicians to share health information prescriptions with patients. The organisation has committed to helping the rare disease community and is creating and collating resources with partners to enhance the Healthinote database of information for rare diseases.

Doctors can use Healthinote to share personalised information such as prescriptions and treatments directly with patients, meaning families receive help from the very beginning of their rare disease diagnosis. It helps doctors to create a patient subscription which enables people to view personalised, relevant content including videos. By ensuring that people get the right medical information at the right time by trusted GPs, it gives them access to customised medical support. As Rare Disease Day reminds us, families need to feel supported when dealing with complex illnesses.

All of the information within Healthinote is from trusted partners including advocacy groups such as Niemann-Pick UK (NPUK), Pompe Support Network, the NCBRS Foundation and the AKU Society. These advocacy groups and well-known charities reiterate the importance of the role they play in helping to manage the care of people.

The platform, which currently connects over 3,000 practices with over 30 million people in the UK, also integrates with commonly used patient messaging tools. This makes it easily accessible without the need for any extra clicks or searching, creating a seamless user experience for both clinicians and patients.

I teamed up with Cognitant as their aims align with some of the reasons we started CATS – to make sure families coping with rare disease understand more, feel supported and have reliable information.  Just as Rare Disease Day hopes to create a global community for everyone impacted by these illnesses, we too want to build a strong support system for families who are forced to confront rare disease. There is so much we can do to improve the experiences of those affected by rare disease by helping patients and their families learn, access helpful resources and become empowered partners with their healthcare professionals. I’m excited about what the future holds for the rare disease community as companies like Cognitant move forward with their patient centric initiatives.