A DAD was given years to live and faces a painful death after noticing his fingers were “paper white” after spending time in the snow.
Scott Nell, 47, noticed a painfully cold sensation in his fingers in November 2017, and pulled off his gloves to reveal digits as white as a sheet of paper.
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The dad, from Houghton-le-Spring, County Durham, later struggled to breathe and found his airwaves were “shutting off” if he lent to one side.
After undergoing tests and seeing specialists, the garden designer was diagnosed with diffuse cutaneous systemic sclerosis, a type of scleroderma.
This is a rare autoimmune condition that causes the skin to harden and thicken, and can lead to serious organ problems and can be life-threatening.
Scott underwent chemotherapy treatment every month throughout 2018 to help soften the skin and tissue around his internal organs.
Read more on rare diseases
But Scott now faces issues with his lung function and pain due to the muscle-wasting nature of the condition.
He was given less than two years to live in March 2022.
The dad defied odds to outlive doctors projections and now wants to raise awareness of the disease.
He’s urging others to push for early diagnoses so they can live longer and spend more time with their families – as Scott tries to snatch more precious moments with is his wife, Charlotte, 48, his 15-year-old daughter Tiffany and his step-sons.
He said: “I was originally given less than two years to live and I’ve exceeded that already, I still feel like I’ve got plenty left.”
Scleroderma is a rare, progressive autoimmune condition caused by the body producing too much collagen and resulting in the hardening of the skin, according to Scleroderma and Raynaud’s UK (SRUK).
Around 19,000 people in the UK live with the condition, which can stop parts of the body from functioning properly and, in severe cases, cause physical disability and be life-threatening.
It’s also common to have another condition called Raynaud’s alongside scleroderma, which causes the small blood vessels in the extremities such as the hands, feet, fingers or toes to be over-sensitive to changes in temperature, cold and stress.
Scott said he started to experience unusual sensations in his fingers in November 2017 – which was later diagnosed as Raynaud’s.
“There was something going on with my fingers and one occasion, I was working and laying a drive and it was snowing but it was so cold, I couldn’t stand it,” he said.
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“I took my gloves off and my fingers were white, like sheet-of-paper white.
“I was really quite shocked and I had to go into the car and heat them.”
Scott said he then noticed fluid appearing under the skin of one of his fingers and he also felt “excessively tired”.
He added: “I woke up one morning and I could not straighten my arms and legs out, it took me a few minutes.”
This prompted Scott to arrange a GP appointment where they took stool and blood samples.
The latter came back with a marker called SCL70, an antibody which is present in around 20 percent of patients with scleroderma, according to the NHS.
What is scleroderma?
Scleroderma is the name for a range of conditions that affect your immune system and can cause hard, thickened areas of skin.
Sometimes, they can also cause problems with muscles, bones, internal organs and blood vessels.
The two main types of scleroderma are:
- Localised scleroderma (morphoea) – this mostly affects the skin but some types can also affect tissues under the skin, such as muscle and bone
- Systemic sclerosis – this may affect blood circulation and internal organs as well as the skin
Some types may eventually improve on their own, while others can lead to severe and life-threatening problems.
Although there’s no cure for scleroderma, symptoms can usually be managed by a range of different treatments.
Everyone’s experience of scleroderma is different.
It depends on what type you have, how severe it is, and what parts of your body are affected.
For most people, scleroderma causes skin changes. These symptoms can include:
- Patches of thick, hard skin that may become discoloured
- Itching
- Tight skin that makes it harder to move your joints
- Hard lumps under your skin
- Tiny blood vessels (spider veins) appearing just beneath your skin, called telangiectasia
- Painful sores on your fingers and toes, called digital ulcers
Causes of scleroderma
Normally, the body’s immune system fights off any germs that infect the body.
It responds like this to anything in the body it doesn’t recognise, and settles down when the infection has been cleared.
It’s thought scleroderma occurs because part of the immune system has become overactive and out of control.
This leads to cells in the connective tissue producing too much collagen, causing scarring and thickening of the tissue.
It’s not clear why this happens. Certain genes are thought to be involved, and having a close family member with the condition may increase your risk.
Sources: NHS, SRUK
“My wife and I googled it but we never thought [scleroderma] must be what I’ve got,” he said.
Scott then had an appointment to see a rheumatologist, who found indentations on his fingertips that were producing calcium deposits.
“They were pushing away out of my fingertips… the skin was so tight you couldn’t grab anything and he said I had scleroderma,” Scott said.
He was taken for an X-ray of his lungs, as the condition can impact these organs in many ways, but no issues were found at the time.
Months passed and Scott was given medication to help relieve his initial symptoms, but in March 2018, he found he was struggling to breathe.
“As soon as I leaned over to one side, my airwaves just shut off,” he said.
“I was trying to sleep sitting up and it just got to a point where I couldn’t breathe.”
Scott was given morphine and found this improved his ability to breathe.
A specialist in Newcastle was able to officially diagnose him with diffuse cutaneous systemic sclerosis, a type of scleroderma.
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Gruelling treatment
Scott was advised to undergo chemotherapy treatment, as he said the chemicals included can help soften the skin and tissue around the internal organs.
“It’s not intensive, such as for a cancer patient, and I lost very little hair,” he explained.
“I had chemotherapy every month for a year to start with and they reduced that to once every six months, which is where I am now.”
Alongside this, Scott now takes around 250 tablets each week, saying it is a “whole arrangement”.
Some of this includes morphine, which helps with his breathing and pain, paracetamol, of which he takes around eight tablets a day, and antibiotics.
“I pretty much live in a certain amount of pain,” he said.
“I’m on tablets to stop me from having diarrhoea, tablets to stop me from being sick, immuno-suppressing tablets.
“It’s a lot. I think some of my tablets are to combat the ill-feeling from other tablets.”
It’s not going to be a quick process for me, I know I’m going to suffer for a long time
Scott Nell
Scott also needs to use oxygen tanks when he is awake to help him breathe.
“It’s difficult to sleep and I sleep on the sofa, it’s very rare that I actually sleep with my wife, because there I can position myself so I’m not tossing and turning,” he said.
The disease has also caused Scott’s skin to tighten.
“Sclero means hardening and derma means skin – so hardening of the skin,” he explained.
“It can produce a lot of calcium deposits, which can sometimes cause scarring and disfigurement.
“I think because I was diagnosed really quickly it saved the best part of my appearance – I think actually the tightening of my skin probably took a few years off me.”
‘Early diagnosis is key’
Scott said his wife, his daughter, Tiffany, from a previous relationship, and his step-sons find the disease difficult to process.
“My line of thought is their suffering, not mine,” he added.
“It’s not going to be a quick process for me, I know I’m going to suffer for a long time and the end.”
Scott advised those who may have received a diagnosis “not to panic”.
“If you think you might have scleroderma, don’t back off if a doctor suggests it could be something else,” he said.
“Anyone who has a confirmed diagnosis, I would say not to panic and there are new treatments coming out all the time.
“Early diagnosis is the key – the sooner you’re on treatment, the longer you have to live, the longer you’ve got with your family.”
For more information, visit the website for SRUK here.
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