A Google search of Scleroderma, like any serious chronic disease, will undoubtedly present you with a horror show of terrifying images and equally spine-tingling stories about the disease and so I just wanted to create a safe space here to outline my journey towards my diagnosis in a hopefully calm, soft, easy to digest way.
June is Scleroderma Awareness Month, but of course each and every single day is important for each and every one of us suffering from this condition. We are always fighting for our voices to be heard, to raise awareness for all of the illnesses, visible and invisible. But every June, we fight even harder to have our voices heard to reach those who are suffering with Scleroderma or some of the other symptoms to make the world see us and to know that if you’re suffering and waiting for a diagnosis, or have one and felt bewildered, you are not alone.
Know that nothing is more important than you getting all the help, answers and support you so deserve and I really hope this post can help serve you in this way.
What Is Scleroderma?
So what is Scleroderma? The name of the condition comes from the Greek, ‘sclero’ for hard, and ‘derma’ for skin and it is a very rare, chronic disease of the immune system, blood vessels and connective tissue that affects up to 2.5 million people worldwide including about 19,000 in the UK. And yes, sadly is Scleroderma is a horrible life-changing disease, but it’s also a disease in which no two cases of Scleroderma are ever the same. There are mild cases and then there are life-threatening cases. Like Lupus, Scleroderma is an autoimmune condition, meaning that the immune system becomes overactive and starts to attack healthy tissue in the body.
The excess of collagen that Scleroderma creates starts to affect the skin, joints, tendons and internal organs and can cause scarring, by stopping the affected parts of the body from functioning normally. This graphic below created by SRUK, the official charity of Raynaud’s and Scleroderma is particularly helpful. I have the Systemic branch of Scleroderma and I’ll discuss more about this below.
Types of Scleroderma
There are two main types of scleroderma, ‘localised’ and ‘systemic’:
Firstly, Localised Scleroderma is divided as follows:
- ‘Morphea‘: is the name given to localised patches of hardened skin that are smooth and shiny. Usually, they appear on the trunk, but they can affect any part of the body. They are painless and there are normally no other problems or symptoms.
- ‘Linear‘: with this scleroderma the skin affected is in a line, usually along an arm or leg. The skin appears shiny, miscoloured or scarred, and often feels tight and uncomfortable. In children, it has to be monitored carefully as the normal growth of limbs can be affected.
Then, Systemic Sclerosis is divided as follows:
- Limited Systemic Sclerosis (my diagnosis): People have normally lived with Raynaud’s syndrome for a long time. The condition progresses gradually, and usually only affects the face, hands, arms below the elbow, feet and legs below the knees although the lungs and digestive system (for me it already is) may be affected over time. Symptoms can include thickening of the skin, heartburn and problems with swallowing.
- Diffuse Systemic Sclerosis: it is more likely that the whole body will be affected, and in some cases there can be potentially serious complications involving the heart, lungs and kidneys. Common symptoms include fatigue, joint pain, and stiffness.
My medical background
I was never really a ‘healthy’ child and developed quite severe asthma at a very young age. However, despite this, I was lucky enough to avoid many of the bugs that went around school, although if I did catch anything I became quite seriously ill. I had also had two operations before the age of 14 so I was aware that my health was different from my peers from a very young age.
However, in terms of Scleroderma symptoms, looking back, my own experience with Raynaud’s, one of the key symptoms, started as early as my childhood. I vividly remember my hands turning through a rainbow of shades when swimming or sitting in a drafty assembly hall.
From as young as 9 years old I recognised that I was already very different from the other children around me and I would painstakingly warm my hands between my knees or neck in agony. Thankfully my Grandmother also had Raynaud’s and immediately took me to see a doctor. An official diagnosis of Raynaud’s was given however I was told I would grow out of it and there was nothing to worry about.
During my late teens and early twenties a ‘clusters of symptoms’ started to develop within my body leading me to seeing up to 5 specialists on a regular basis. This led to a battle of 10 years with things that I thought were all completely unrelated (I was diagnosed with a benign Pituitary Tumour, PCOs and Endometriosis during my studies but my other symptoms over the years never related to these). Instead, I was gathering answers for a great many unexplained or misdiagnosed conditions that were actually side effects of the auto-immune disease Scleroderma.
Like every undiagnosed, chronically ill person reading this knows only too well, suffering in such a way is not just physically draining, but also emotionally unbearable, and especially in such formative years of my life.
I felt that I had to fight relentlessly to be taken seriously by the medical profession and it truly felt like being in an actual ‘game’ attempting to fit the pieces of the jigsaw together yourself. I started to feel like I didn’t know who I was anymore, as my body was transforming beyond my control and I didn’t know how to help or stop it getting worse.
Incidentally, it was this act of joining the jigsaw pieces together that resulted in me finally receiving help when I was receiving injections for carpal tunnel syndrome (something that is quite common as the initial manifestation for a Scleroderma diagnosis that I’ll discuss below) and my specialist asked if anyone had looked into my Raynaud’s Phenomenon more deeply, and because I hadn’t, he referred me to a rheumatologist.
And it was finally in early 2018 that I was diagnosed. Naturally, the diagnosis was heartbreaking, and it’s taken me longer still to grasp the situation fully. Because ironically, despite living with this and a series of other chronic illnesses, I still cannot grasp the deeply debilitating and mystifying elements of this illness, and especially how it could of been related to my Raynaud’s. However as time goes on, I know it’s totally okay to grieve this on a daily basis. I realise now that even on the worst days all I want to do is help others so they don’t have to suffer the long anguish of isolation and pain I suffered on my long battle to be diagnosed. So let’s start to breakdown some of these symptoms below.
Symptoms of Scleroderma
- Raynaud’s phenomenon: Raynaud’s is the constriction of blood vessels in response to a decrease in temperature, and/or stress. This narrowing of the blood vessels can be extremely painful, accompanied with a burning or tingling sensation. The symptoms can cause an extremely visible three-way colour change to the affected area, which can include any site on the body. The hands and feet are most commonly affected, but the ears, nose, and tongue, among other sites, can be affected also. I’ve posted quite extensively about Raynaud’s and my posts can be found here.
- Heartburn: Other than my Raynaud’s getting worse, this was my most prominent symptom. For me this presented itself as very severe acid reflux to the point I became dangerously underweight and diagnosed with anorexia because there was no other investigation to understand why it was so difficult for me to eat. I also have Gastroparesis so this whole topic is ready for a big blog post alone! Look out for posts going in this handy tab right here.
- Carpal Tunnel Syndrome: Nerve pain is a common symptom for many people with Scleroderma and conditions such as Carpal Tunnel Syndrome and neuralgia are regularly experienced. As I’m typing this right now in fact I’m experiencing quite severe pain so sadly since I developed this in 2015 it hasn’t eased. Carpal Tunnel can be treated by wearing splints on the wrists and with cortisone injections, however, my specialist has stopped the latter due to them apparently not reacting well to Scleroderma.
- Fatigue: The fatigue that accompanies Scleroderma and really all chronic illnesses that I can think of is a relentless symptom that is difficult to control and manage, but also can quite often be overlooked, with the initial management of the disease focussing on the more important life-threatening skin and organ fibrosis progression. However, this is something I have found emotionally and physically so unbearable and I want to discuss this in more detail soon.
- Puffy Fingers: I can’t say this is something that has troubled me too much, however over the years I have noticed an increase in swelling or puffiness of my hands. Especially when rings either swim around on my fingers or feel stuck on! Swelling is another typical early symptom of scleroderma, and this may be especially noticeable upon waking up in the morning due to muscle inactivity at night.
- Hardening of the skin: Everyone with Scleroderma develops some skin changes. However, the severity of the problem varies greatly between people. The most common skin problem is dryness and cracking caused by the skin thickening that is a feature of Scleroderma. For me this actually hasn’t been noticeable at all because I grew up with Eczema. However I have noticed recently my knuckles becoming ‘locked’ and feeling very uncomfortable.
- Body Aches/Arthritis: I have felt for many years what I can only begin to describe as relentless ‘growing pains’. The connection between Scleroderma and Rheumatoid Arthritis is that they are both diseases which attack connective tissues and involve pain, swelling, and immune system responses.
Tests and Diagnosis for Scleroderma
I met my rheumatologist for the first time in January 2018. He explained that Raynaud’s is either a primary disease or linked to other illnesses including Scleroderma or Lupus. After a thorough physical exam, I was then sent for blood tests to check for elevated blood levels of certain antibodies produced by the immune system. Because Scleroderma can take so many forms and affect so many different areas of the body, it can be difficult to diagnose on the spot, and because there’s a small chance that 1 in 10 of those with primary Raynaud’s can go on to develop secondary Raynaud’s.
The blood test or ANA test to identify whether you have autoimmune antibodies in your blood and these antibodies are a type of protein that is produced by your immune system and attack other cells within your body.
If your specialist or GP is unsure you could have Raynaud’s you might be referred for a thermography test. This is a functional test to see how the blood vessels in your hand reacts to cold water. The water will be around 15 degrees and you will be asked to place your hands fully in the water for 1 minute. After 1 minute, you will be asked to remove your hands and using a thermal imaging camera the clinician will see how quickly your hands take to warm up. This test helps to diagnosed the severity of Raynaud’s.
You could also be referred for a capillaroscopy. Your clinician will use a strong microscope to look at the blood vessels in your nail fold, the cuticle/nail bed on your finger nails. This is to look at the structure of your blood vessels and see if there is any damage to your blood vessels. If the blood vessels have wide gaps between them or are broken this is an indication that there may be an underlying condition, such as Scleroderma.
As I was diagnosed with the Systemic branch of this autoimmune disease I was rushed for extra examination of my organs that include breathing tests (pulmonary function tests), a CT scan of your lungs, an ultrasound of my kidneys, a Barium Swallow for the gastric symptoms and an echocardiogram of your heart. For more information on the common tests for Scleroderma please visit the fantastic resources at SRUK.
Thank you so, so much for taking the time to read this post and engage in any way you can with this very important awareness month. I’m truly beyond grateful and your constant love and support is the strength that I will use to create the seemingly impossible things. To read all my posts about Scleroderma the dedicated category is right here and I also have a Raynaud’s category right here. But, meanwhile, have any questions? Please leave them below and I would be thrilled to connect with you all xoxo