Giving patients living with a rare disease a voice

LloydsPharmacy Clinical Homecare currently treats 400 patients with 12 different rare diseases. Rene Sonders, lead nurse for rare disorders, talks about how less-common conditions impact people’s lives and highlights the importance of raising awareness.

If you asked someone what the first thing that came into their mind was when you said February, they’d probably say Valentine’s or Pancake Day. If you also asked that same person if they’d heard of Atypical Hemolytic Uremic Syndrome or Hypophosphatasia, they’d most likely say no.

February isn’t just the month for showing our loved ones how much they mean to us or deliberating over what topping to have on our pancakes. It’s also the month of Rare Disease Day, an event where patients can come together to be heard, support one another and raise awareness of their rare conditions. It takes place every year, on the last day in February because it’s a month with an unusual amount of days, 2020 being particularly significant with it being a leap year.

For a disease to be categorised as rare, less than one person in a population of 2000 must be diagnosed with it. There are currently between 6,000 and 8,000 known rare diseases. In the UK, this means that any one condition could affect up to 30,000 people, but most of these disorders will be much less common. Some only impact a small minority, or even a single person in the whole of the UK.

Imagine how you would feel if you were diagnosed with a condition you’d never heard of, that there’s no cure for and that no one else, or only a handful of other people have? Then combine that with the fact it may have taken you up to five years to be diagnosed after multiple misdiagnoses. That’s the reality the patients we treat have had to face, a lot of which are children. Naturally it’s worrying and frustrating, not only for the individual but also for their loved ones. There are also very few people who can understand what that person’s going through which can leave them feeling isolated and scared. Our nurses are there to help support these people when they’re feeling at their most vulnerable.

It will come as no surprise that a patient’s quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease they’re living with. During my 13 years specialising in rare disorders, I’ve provided treatment to patients in their homes on a regular basis and witnessed first-hand the difference it can make to their day to day lives. But it isn’t just the clinical aspect of the care we provide as nurses that helps to positively impact their well-being. Simply lending an ear and being empathetic goes along way too. Being able to help people to feel better, both physically and mentally, is a privilege and is what made me want to become a nurse.

In my role now, I provide clinical expertise to a fantastic team of nurses and patient coordinators who are responsible for providing treatment and support to 400 people living with 12 different rare diseases. Our patient coordinators ensure the right medicines and equipment are delivered on time whilst our nurses deliver vital treatment to patients in the comfort of their own home. They will spend anywhere between 30 minutes to 6 hours with them on each visit, with some patients needing to see a nurse every week and others only once a month. The care we provide ranges from simply delivering medicines to providing 5-6 hour long IV infusions with costs of treatments varying from £1,000 to in excess of £30,000.

As part of our Year of the Nurse activities and in order to increase awareness of rare diseases, I am running workshops and will be sending out a fact sheet to all colleagues across our family of businesses.

Saturday 29th February is an opportunity for the 350 million people living with a rare disease globally to unite with a common purpose. The more that people living with these conditions share their personal experiences the less alone others will feel, which includes the patients we care for.

To find out more about Rare Disease Day click here.

Rare is Many, Rare is Strong, Rare is Proud