Becky Slack meets a young woman who has made that her motto, in the face of some quite overwhelming difficulties
Look at Natalie Fernandes and the first thing you see is her big smile beaming up at you. Warm, friendly and chatty, she appears just like other girls in their 20s and enjoys nothing more than shopping and hanging out in coffee shops with her friends.
But Natalie, 29, from Hatch End, isn't like other girls. In fact, she is unique; one in a million – quite literally. She suffers from Relapsing Polychondritis (RP) with Lupus overlap and secondary Sjögren's Syndrome – and if you’re wondering what that is, then you’re not alone. Even the medical profession doesn’t know much about it. With no more than a few thousand people world-wide diagnosed with the condition, most doctors will go through their entire careers without ever meeting anyone who has the disease.
RP is, in fact, a rare chronic disorder of cartilage, characterised by recurrent episodes of painful inflammation: ears, nose and joints in particular. With no known cause (it’s suspected that it results from a faulty immune system) or cure, the few who have the condition suffer from pain, swelling, fever and fatigue among many other things.
Couple that with the effects of the Lupus (fever, malaise, joint pain and a painful rash) and the Sjögren's Syndrome, which attacks tear and saliva glands – and you’d be right in thinking that Natalie gets a very raw deal indeed.
“The cartilage in my ribs will become inflamed, my ears swell up in varying degrees, and I get a red, swollen and very sore rash, which covers my face, fingers, knees and toes. This affects what I choose to wear, as buttons are not fun, and what I do – I can't hold a pen for example, as it's too painful,” explains Natalie. “I also get joint and muscle pains, and because I've been on steroids for so long I've developed Osteoporosis in my spine and hips.”
The fact that the condition is so unusual makes it especially difficult to diagnose, and, as is the case with so many rare diseases, it took several attempts for doctors to correctly pinpoint what was wrong with Natalie, who recalls some grim experiences. “Sometimes I would be so exhausted I would drag myself around my room by my hands and legs as I was too tired to stand up. I had always thought I was a hypochondriac, especially with the muscle pain. I very much blamed myself for it,” she reflects.
Even when the Lupus displayed itself with a prominent rash that covered her face, doctors still didn't pick up on what was wrong, sending her away twice in a six month period before finally agreeing to a biopsy… which came back inconclusive.
“I felt like I was going to spend the rest of my life with these strange symptoms that no one really cared about – except my family. They so much wanted me better. Mum came to every single hospital appointment with me. I don't know who was more upset – her or me,” she says.
The rash eventually went away of its own accord and Natalie began to pick up where she had left off. An exciting new life was ahead of her at Roehampton University where she was to study English Literature and Psychology; dreams of becoming a journalist were waiting to be fulfilled.
Then in September 2004, not long after she had graduated, those dreams came crashing down around her. It started with her ears swelling up, growing so large and becoming so heavy that she had trouble keeping her head up. Her eye became inflamed, her knee was swollen and she had an extremely high temperature. The rash also came back – this time all over her legs and her back – and every time she tried to stand she would be in agony.
Natalie was admitted to hospital where initially she was kept on the infectious diseases ward. It was not until a week later that she was passed over to the rheumatology team and tests for autoimmune diseases began.
“To have your child go through all that upset and upheaval is just so traumatic. I can't really describe how it felt,” remembers Lillian Fernandes, Natalie's mother. “Thankfully we had an amazing doctor, Dr Andrews, who was exceptionally supportive and didn't leave any stone unturned.”
After much prodding and poking, Natalie was diagnosed with RP. Finally there were at least some answers to the questions the Fernandes family had been asking for so many years.
“It had been such a nightmare as we kept thinking one day we would wake up and everything would be alright, but we never did which made it all feel so hopeless,” says her father, Arthur. “Then when we found out what was wrong we knew it would never end, there will never be a cure, but at least we knew how to cope.”
For Natalie, receiving her diagnosis was a day she will never forget. “When I look back,” she says, “it's like there are two of me: pre-diagnosis me, and post-diagnosis me. There were a million things I had wanted to do with my life, but it had all been turned upside down. I started looking at everything and everyone completely differently.”
Diagnosis was one thing. Treating the disease was another. RP is so very rare that there is very little that is known about it, never mind medicines available to treat it. As a result, the British medical community is woefully unprepared and Natalie is forced to take medication that’s actually designed to combat other diseases and conditions, such as cancer, organ rejection and malaria. Drugs to treat the Lupus have been developed, in fact, but they are too expensive to be approved by NICE (National Institute for Clinical Excellence).
With only very limited information provided to her by the hospital, Natalie has been forced to rely on the internet and patient support groups for further illumination. There is only one research fund, but as the disease is so uncommon it has very little money available for projects – indeed, to date, Natalie herself is the biggest donor to the fund, with money that she has raised through completing sponsored challenge events.
Psychologically this has, of course, all had a huge impact on her. In addition to knowing that her life has been shortened considerably by the disease, she’s had to deal with depression, upset stomachs and hair thinning caused by the medication that she takes, and she faces endless hospital appointments and tests. Despite this she tries to live her life as any other 29-year-old might. She has a part-time job working at a global health charity called Medact, aspires to move into her own flat, and is what her friend Julia Vethamony describes as ‘someone who has a wonderful listening ability, who always approaches life with a smile on her face’.
The big dreams are also still there, only now with a different focus. “I want to make sure that there is a huge headway into research about RP, better medication and better support… People with rare diseases really struggle to get the emotional and customised support we need. When I die, I would like people to say that I helped more doctors understand RP. I'm not a miracle worker but I'd like to have some impact.”
“In a way, having this disease has given me the opportunity to work for a really great charity that I would never have found otherwise, to meet some really inspirational people and to go to places I might never have gone before. You just have to hang onto the positives. It's the only way to get through.”