Losing mum: a scleroderma story
Scleroderma is rare, but at its worst it can drastically shorten life expectancy. We recently spoke to a family from Leicestershire, who shared their devastating experience of this auto-immune disease in order to raise more awareness about the impact it can have on daily life.
Imagine having a rare disease even doctors do not understand, that gives you constant pain and discomfort, changes your appearance, and can cause a serious heart problem. Scleroderma is a rare auto-immune disease, which affects only around 19,000 people in the UK, and 2.5 million people across the world.
Scleroderma occurs when the immune system starts attacking the body’s own tissues, such as the skin on the hands. There are different types of scleroderma, with ‘localised’ scleroderma being the mildest form (yet potentially still very painful) as it only affects the skin, usually in patches around the body. ‘Limited’ scleroderma and ‘diffuse’ scleroderma affect both the skin and organs, with ‘diffuse’ scleroderma being the most severe as it can affect tissue throughout the body.
We spoke to Alison Bexton, a 35-year-old mum of two from Leicestershire who, along with her two older sisters, supported her mum, Elaine, for 15 years through the worst type of scleroderma, until she passed away from severe complications of the disease.
The start of scleroderma symptoms
In her younger days, Alison’s mum, Elaine, was an active, confident girl and a keen swimmer – swimming for the County and travelling abroad to swim in competitions. Elaine was very driven in all areas of her life. She was a single parent raising three daughters (Michelle, Lisa and Alison) whilst working as a swimming teacher and lifeguard, later becoming the Learn to Swim Coordinator at the local leisure centres – a job she loved. As a mother, she was loving and caring, and always there for her daughters, no matter what.
In the late nineties, the family lived a happy and fun-filled life together, until Elaine started to develop strange symptoms.
“Mum’s first symptoms started with her eyes. At Christmas in 1997, she couldn’t see properly out of one of her eyes and it became red. She was diagnosed with iritis (a common eye inflammation condition). She went to the doctors many times complaining that she felt unwell and had itchy skin.”
It’s common for people with scleroderma to develop eye conditions because the disease can affect any part of the body and its tissues. Itchiness can develop due to inflammation in the skin, which releases chemicals such as histamine, causing the skin to itch.
After many GP visits, Elaine’s doctor suggested she may have an auto-immune disease and sent her to see a specialist who, disappointingly, was unable to see her personally to discuss the results of her tests. It was left to his secretary to drop the bombshell that Elaine did in fact have a rare, chronic auto-immune condition, which left her confused and anxious.
“The secretary was harsh and, frankly, not very nice. She didn’t explain anything about the illness apart from informing mum that she had ‘scleroderma’ and to go research what it was! Mum and her sister, Diane (my auntie), went to the local library and used books to research the illness, as we didn’t have internet in homes back then. They found out that mum’s life expectancy could be as little as 3 to 12 years, which came as a massive shock to us all.”
Multiple auto-immune diseases
Elaine’s symptoms soon progressed and scleroderma began to affect her skin, her appearance and her daily life more drastically.
“Mum’s finger nails started to splinter and her hands and fingers became very cold. Her fingers began to swell and her skin tightened so much that her rings had to be cut off at the local fire station. As her skin tightened, her fingers bent forward and became permanently claw like. She lay awake in agony with burning, sore, itchy skin. When she went back to the GP, he prescribed anti-depressants which stopped the itching. The burning skin slowed down as her skin transitioned to being tight.”
It is common for people with one auto-immune disease to develop another, and this was the case for Elaine. Raynaud’s disease commonly occurs in people with scleroderma, causing the skin to react to even slight temperature changes, feeling extremely cold and painful.
Elaine was aged just 44 at this point, with Alison being 15, Lisa, 18 and Michelle, 21 years old. Elaine ploughed on despite being in constant pain. She was committed to her role as single parent and provider for her girls, who she came to rely on for help in managing her symptoms.
“Mum was still ‘Mum’ - she was in control, she worked and took care of us all. My sisters and I would help her by applying creams and cold, wet towels to her skin when she was at home. We did the heavy lifting so she didn’t bang her hands, as they were very sore and ulcerated easily if she knocked them on anything, but generally, she still did everything herself.”
Alison, Michelle and Lisa
The family carried on as best they could, still not really understanding what scleroderma was or how it might continue to affect Elaine’s body and life. With the family all desperate for answers and knowledge, Elaine’s sister, Diane, found and contacted a hospital in London that specialised in scleroderma, to ask for help. Elaine was given an appointment with Professor Carol Mary Black, an expert on the disease, who diagnosed her properly with ‘diffuse scleroderma’. This meant the condition may affect more than just Elaine’s skin, and could have complications involving her organs. Even with this diagnosis, the family did not realise the impact that scleroderma would have on Elaine, due to the lack of information about the disease.
“At this point, we still did not realise Mum had the worst type of scleroderma, we were focused on trying to manage all of her symptoms. Mum’s skin became tight on her face – she had barely any wrinkles because her skin was pulled so tight! Her feet were sore and she had to go and see a chiropodist to care for her hard skin and corns.”
Elaine later discovered she also had coeliac disease, another auto-immune condition in which the body’s immune system is triggered by the consumption of gluten – a protein found in wheat, barley and rye. Having coeliac disease means that gluten causes the immune system to attack the gut, which causes a variety of gastrointestinal symptoms as well as issues such a brain fog and joint pain. People who are diagnosed with coeliac disease must eat a gluten-free diet and avoid all sources of gluten, which will eventually help their gut to recover and symptoms to decrease, as long as they do not consume any gluten again for life. Not only was Elaine battling her physical skin symptoms, but she now had to get used to eating a gluten-free diet as well.
“She was diagnosed with coeliac disease, which was very difficult for her because she loved bread and all types of food, so having to be careful with her diet was another challenge to face. Back then, the supermarkets had very limited options, restaurants had no special options and there was just no variety and anything you could get was expensive and dry.”
As time went on, almost 10 years after her initial scleroderma diagnosis, Elaine’s condition had developed to a point where it seemed to be affecting more than just her skin and she felt constantly ill. Alison explained that the family were constantly let down by the medical profession, who dismissed Elaine’s worsening symptoms and missed crucial signs that scleroderma was affecting her internal organs.
“Mum had 6 month reviews with the hospital rheumatology department. We never saw the professor, only the student doctors and always a different one, who often didn’t understand her illness and never passed information on to the senior doctors. She felt the appointments were pointless. For over 18 months, she explained to them, in her words, ‘my head feels like I’ve had a bottle of whiskey’. She constantly felt dizzy, tired, out of breath and generally unwell. She picked up every bug going. Despite describing these new symptoms, none of the doctors investigated these further or carried out testing.”
Because of this carelessness, things finally came to a head when the family took a well-needed break abroad in 2008.
“It wasn’t until we went on holiday to Spain when mum’s symptoms peaked and she passed out. She was going in and out of consciousness. It was horrific. An ambulance took her to the hospital. The next day, the hospital was planning to discharge her with a simple inhaler, but we knew she needed more care than this, so we called our own GP who insisted she stayed in the Spanish hospital for further tests. Thankfully we did.”
Elaine on holiday
Elaine was sent to a private hospital and within days was diagnosed with pulmonary hypertension, a serious complication of scleroderma, which meant the disease was affecting her heart and lungs. This condition should have been picked up in her six-monthly appointments back home, and highlighted how let down she had been by her care team who should have been routinely checking her heart and lung health, especially with the breathing problems and fatigue she had been reporting for some time.
“Had they picked up the pulmonary hypertension earlier, mum could have had earlier intervention and medication instead of just having to put up with the symptoms and never getting on top of them.”
Pulmonary hypertension is high blood pressure in the tiny blood vessels that carry blood to the lungs, and is not diagnosable from standard blood pressure tests using a cuff on the arm. The blood vessels in the lungs become narrower and eventually may become completely damaged, causing higher blood pressure in the right side of the heart, which has to over-work to pump blood to the lungs. The heart gradually gets weaker because it has to pump so hard, and becomes less efficient at pumping blood to the lungs. This leads to symptoms such as fatigue, feeling dizzy, swelling of the tummy, chest pain and a racing heartbeat, as well as breathlessness. Elaine had reported several of these symptoms for over a year.
People with scleroderma may be at risk of developing pulmonary hypertension because it’s thought the blood vessel tissue becomes thickened, which gradually makes them tight, in a similar way to how the skin is affected.
Coping with with effects of scleroderma
With the additional diagnosis finally made, Elaine picked up and started to feel a little better for a short time.
“When we got Mum on the correct medication she continued to work, drive, holiday in England, but wouldn’t go abroad as she had lost confidence and the cost of insurance was too expensive. She eventually needed more help around the house with cleaning, shopping, cooking and, on long journeys, me and my sisters would drive.”
Elaine used a selection of daily living aids to help with everyday tasks that were difficult due to her hands being so badly affected by scleroderma. Gripping, turning and generally using her hands was difficult.
“She had aids to turn switches and sockets on and off, a raised toilet seat to make the toilet higher for her and reduce the need to bend, large handled cutlery to help cut her food, and a sock helper.
“She still walked around the garden every day and refused to give into the illness. She only used daily living aids when she really felt it would benefit her and she had no other choice. Mum’s internal organs were tightening and her heart was overworked – her heartbeat sounded as though she was constantly running. She was always tired and out of breath. Eventually, she started to use an electric wheelchair sometimes, not because she couldn’t walk, but because of the fatigue and breathlessness. She realised by having a chair she could still do the things she loved.”
Elaine, Alison and her daughter, Ariah
In 2010, Elaine eventually decided to give up her beloved job as a swimming coordinator to improve her quality of life and enjoy home life more.
“As a family, we encouraged mum to finish work because all of her ‘good time’ was spent at her job and she’d be in bed for the rest of the day, completely exhausted. She had more time with her grandchildren and daughters and also for herself once she stopped working.”
Saying goodbye to mum
Living with pulmonary hypertension meant Elaine was also now under the care of Royal Hallamshire Hospital in Sheffield, who specialise in the condition, and she was able to get the care and support she needed.
“They were brilliant with Mum, listened to her, took control and treated her successfully during her time with them.”
Eventually, in 2012, Elaine’s health took a turn for the worse and Alison described in detail the last months of her mum’s life, which saw Elaine’s health decline drastically and left her daughters shocked and distraught at the unexpected loss of their mum.
“Mum had fought against the worst elements of scleroderma for 13 years. In her last few months of life, she was in and out of our local hospital. As a family, we didn’t understand the severity of how poorly she was becoming – we thought it was a spell of being unwell and she would pick up again, as she had done many times before.
“The hospital didn’t have any idea of how unwell Mum was either, and even made her feel like it was in her head, not believing in what she was telling them, even though it was only a week before she died!
“Mum came home from hospital and spent all her time in bed, barely eating or drinking. Our local doctors came out a couple of times to see her at home but no one knew what to do, so we called the Hallamshire Hospital and asked if they would admit her to do checks as she was getting weaker by the day. Mum was too unwell to get in a car, so an ambulance came for her on the morning of Friday 17th August 2012. We truly believed they would help her through this phase.
“Mum felt safe and secure at the hospital as they had cared for her so well before. Doctors ran tests all day on the Friday and we spoke to the specialist on Saturday 18th August. He said that mum was so unwell, that she only had one to a handful of days to live.
“This was absolutely devastating. We just did not see it coming.
“Mum passed away that night with her three daughters – myself, Lisa and Michelle – by her bedside.”
Living with loss
Alison, Lisa, Michelle and the rest of Elaine’s family were devastated by their loss, and still find it difficult to accept that there were so many errors in her care over the years.
“As a family, we felt angry and let down that Mum was taken away from us so soon. She had been passed around to different departments with no one fully understanding her condition and only finding out information if we looked for it ourselves.”
Alison and her sisters live with their grief every day, but cope by knowing they did all they could to support their kind and strong mum, who lived a fulfilling and happy life – despite having both scleroderma and pulmonary hypertension. They are desperately sad that many of their own children will never know their ‘Mamar’ Elaine.
Alison with her two children
Alison has some words of advice for other people living with the same conditions as her mum.
“My advice to anyone with scleroderma is to believe in what you are experiencing – it’s not in your head! Act fast because symptoms of scleroderma and pulmonary hypertension change so quickly that doctors can’t keep up with it. Make doctors listen to you, push to get the right treatment as soon as possible, chase up results and answers and don’t leave your fate in the hands of anyone – take control. To family members, I would say, help your loved one research the condition, and support them through their scleroderma as they can’t do it alone and most of all, really listen to what they are telling you.”
We would like to thank Alison and her sisters for sharing this brave and candid story. If you or someone you know has scleroderma or associated pulmonary hypertension, the charity Scleroderma and Raynaud’s UK provides lots of advice and support which may be useful to you.
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