In the UK, there are between 5,000 and 8,000 rare diseases that affect less than 0.1% of the population.
A rare disease is defined as a condition that affects less than 1 in 2,000 people. It is estimated that there are over 7,000 rare diseases, with new conditions continually being identified as research advances. Even though 80% of rare diseases are genetic, there are still other causes for a rare disease. This can include disordered immunity, infections, allergies and deterioration of body tissue.
Q: Luke, can you tell us about the rare disease Lottie suffers from?
A: My partner, Lottie, suffers from a form of cutaneous mastocytosis, which is the abnormal accumulation and activation of mast cells building up within your body. This can lead to potentially cancerous conditions if healthy mast cells change and grow out of control.
Q: Was her condition diagnosed easily?
A: Lottie was diagnosed in her early 30s when a family outbreak of chickenpox resulted in angry red hives appearing all over her legs and ankles. Thinking it was related, she went to her doctor who struggled to know what was causing it and prescribed steroid cream. As time went on, Lottie started developing all kinds of symptoms after eating certain foods including hot flushes, sickness, diarrhoea, constipation, nausea and dizziness, tummy pains and low blood pressure. As well as this, exposure to certain smells would bring her out in blisters on her neck.
Her local dermatology team at the time in Southampton treated the skin condition but were clearly concerned about the other symptoms. Further tests highlighted issues with her blood so she needed to undergo more invasive and unpleasant tests alongside oncology and haematology tests, which eventually identified the issues with her mast cells.
Q: What impact has having this condition had on Lottie’s daily life?
A: Lottie has made significant changes to her lifestyle which has thankfully reduced the effect on day-to-day life, making it nowhere near as stressful as it once was. Until 18 months ago, she would get incredibly ill on a regular basis, often having to take courses of steroids and antibiotics, which would cause chunks of her hair to break off. Given the rarity of her condition, it was difficult for her to know what she could and couldn’t eat without her body shutting down. Also, the skin rashes she would get from the urticaria pigmentosa would make life incredibly stressful. For example, when Lottie would go swimming she’d often be asked to leave as other people were worried about being in the pool with her!
At one point it looked like stem cell and chemo treatment would be her only option but thanks to a massive adjustment in her lifestyle and diet, these routes of treatment were thankfully taken off the table. It still affects us daily though – we have to be quite careful about what we eat at home, and if she does too much exercise, her body gets worn down which can lead to flare-ups and other symptoms.
Q: How did the pandemic affect Lottie?
A: Ironically, being forced to slow down and make some big life changes during lockdown has really helped Lottie. As she was high risk, she had to stay inside for most of the last 18 months but this has given her the chance to learn to cook good food that doesn’t cause any reactions. This means we’re now able to try a lot of new foods, but in a safe environment so if any reaction occurs, it can be handled immediately.
Also, Lottie’s previous job was running a bar and restaurant which often meant working 14-16 hour days. This was having a substantial effect on her body and was just breaking her. Thankfully, she’s now moved hundreds of miles to Newport so we could live together and is now working much more manageable hours in her new job, which means her body can fight off the mastocytosis much more effectively as she allows herself time to rest. She also gets amazing support from Macmillan Cancer Support.
Q: How can living with a rare disease impact partners or family members?
A: It is cruel knowing that these rare diseases can not only hurt people physically but also their mental health too. I know that having this disorder has made Lottie feel really self-conscious for a really long time, so it’s really important to me for her to know that she is loved and that the condition doesn’t make any difference to who she is. She never asks for sympathy and is determined not to let the disease define her as a person but the truth is that it affects her far more than most people would see in day-to-day life. One of the things I love most about her is her ability to get back up when the condition knocks her down and keep on marching. I’m so proud of how far she’s come.
Supporting Rare Disease Day
At Harding Evans, we support Rare Disease Day every year and hope that by raising awareness for people like Lottie who live with a rare disease, others can understand the daily struggle they have to endure. Raising awareness of and increasing research into these rare diseases can also help to reduce misdiagnosis errors that are so common with this type of illness as unfortunately, it is more difficult to determine the presence of a rare disease in patients and understand how best to treat it.
A report by Rare Disease UK back in 2010 showed that half of all patients in the UK with a rare disease are initially misdiagnosed and wait years for doctors to correctly determine their condition. At that time, almost 20% of patients had lived with their condition for more than five years before being accurately diagnosed and over 10% had to wait more than 10 years.
Clearly, delays in diagnosis can lead to inappropriate disease management as well as disease progression, causing even more problems for the patients who are already suffering. When symptoms present similar to another disease, misdiagnosis often leads to unsuitable interventions for the underlying disorder.
What can people do if they’ve been misdiagnosed with a rare disease?
Here at Harding Evans, we have years of experience in representing clients in misdiagnosis claims. If you or one of your relatives has a rare disease that was misdiagnosed, and would like to speak to one of our legal experts, please get in touch with our medical negligence team on 01633 244233 or email hello@hevans.com.
