Gina’s guest post is the 23rd post in the segment on my blog, called “The Reality Of…” which gives others the ability to share their story and raise awareness of the disabilities, illnesses, impairments and invisible illnesses that they have.
Hi! My name is Gina, and I am from Canada. I write for the Sick With Optimism blog – my goal is to help others who may be struggling with chronic illness.
While some of what we write about pertains to specific conditions, the focus is mainly on ideas pertaining to optimism, hope and practical solutions or ‘life hacks’ to deal with specific symptoms; it is our premise that mental health is related and equally important to physical health.
I have a rare autoimmune disease called Scleroderma, specifically Systemic Sclerosis.
Scleroderma affects approximately 300,000 Americans, of those about 100,000 have the ‘Systemic’ form (the others fall under the ‘Localized’ category). Scleroderma can strike anyone at any age, but the vast majority of people diagnosed are middle-aged women like me.
There are a few varieties of Scleroderma beneath these two categories, with a broad spectrum of possible symptoms and seems to present differently for each of us living with it.
Scleroderma, literally, means ‘hard skin’ – it is a connective tissue disorder caused by an immune response that produces excess collagen. While the name refers to the skin, it can also affect muscles, tendons, blood vessels or damage/destroy internal organs and systems including lungs, gastro-intestinal system, kidneys and heart. I have what is called Diffuse Scleroderma, involving both the skin and internal organs.
Due to its rarity and broad spectrum of symptoms, Scleroderma can be very difficult to diagnose. I have heard that on average it takes about two years, but have read of patients going undiagnosed for decades. Because early intervention can lead to better outcomes, it is so important to spread awareness (to the general population and to healthcare professionals alike) in order to facilitate earlier diagnoses, therefore, I want to thank Ami for the opportunity to discuss the reality of scleroderma with her readers.
It is said that most of us with scleroderma are originally diagnosed with Raynaud’s disease/phenomenon, in many cases years before scleroderma.
Raynaud’s is a lack of blood flow to the extremities, typically fingers and toes but also nose and ears. Flares are typically triggered by changes in temperature (cold) and stress; colour will blanch from fingers, which in turn may appear red, blue or purple as the extremities warm up. Numb at first, extremities can become quite painful or burn as the blood flow returns.
This was indeed the case for me. When diagnosed with Raynaud’s it tends to be automatically assumed it is the primary disease until other symptoms are connected, indicating it is secondary to an autoimmune disease such as scleroderma or lupus.
Another common early symptom of scleroderma is acid reflux/GERD, but for me this connection was not made at first as I had suffered from this since I was a university student, typically associating my heartburn with stress and consumption of certain foods and beverages.
Much more subtle for me was the lack of wrinkling of my facial skin as I aged due to collagen build-up. In fact, wrinkles or smile lines that had been more apparent at one point did begin to fade, but I attributed this to weight gain as at the time I had taken a more sedentary job.
I had also developed some red spots on my cheek which I thought were rosacea (confirmed as such by a dermatologist) were actually telangiectasia, another scleroderma tell.
Other very common symptoms which I experience include: Kidney failure, muscle and joint weakness, pain and stiffness, dry eyes and mouth (Sjogren’s Syndrome), extreme fatigue, some difficulty swallowing from narrowing oesophagus (this can become severe for some), weight loss and hair loss.
Scleroderma manifestations I have not experienced are difficulty breathing due to fibrosis of the lungs which can also lead to dangerous Pulmonary Arterial Hypertension, inability to swallow or digest foods leading to malnutrition or regurgitation requiring the insertion of a feeding tube.
I went along with life with Raynaud’s, blissfully unaware that I had scleroderma or the damage it was secretly doing to my blood vessels. While the Raynaud’s flares were becoming worse, beyond wearing warmer mittens and boots, I didn’t pay much mind to it as I was unaware that with each flare permanent damage could be done.
A few years ago I was caring for a dying relative, it was a hectic and stressful time for me as I already had a full plate with work, family, and volunteering but it was important to me to be there for my loved-one. During that same time both of my In-laws experienced debilitating health issues as well. We were spread thin and things were very stressful. I know today that stress can be a trigger for autoimmune diseases.
Late in that difficult year I realized I was having some pain in my arm. I had been madly preparing for the holidays and wondered if it was from carrying parcels from my shopping haul or all the baking I had been doing in a short time-frame? I observed that my right arm was noticeably larger than my left, swelling in my hand reaching at least half-way up my arm. This is the symptom that set me on my journey to diagnosis… again, swelling is another common early symptom of scleroderma.
I visited a number of specialists and underwent a wide variety of imaging, nerve, and blood tests but none could provide a diagnosis which explained the swelling.
Finally, I visited a rheumatologist, my bloodwork showed a raised ANA level and from my symptoms: swelling and tightening skin, heartburn, nailfold capillary abnormalities (red spots), and the aforementioned Telangiectasia.
Credit to my rheumatologist, because not just any doctor would have diagnosed the scleroderma, but fortunately for me she had worked early in her career as a fellow with a scleroderma clinic. In my case, I was fortunate to be diagnosed within 5 months; at the time I thought it had been a long a tiresome process, but as I mentioned earlier, this was actually a relatively quick diagnosis. Kudos to my GP who never gave up and kept pursuing different specialists’ opinions on my behalf.
My disease didn’t give me much trouble the first year, but then I began experiencing strange symptoms which only now I am beginning to tie back to my scleroderma. For one thing, my hair was falling out. I had a lot of hair, so nobody from hair stylists to doctors really took that seriously. I then began developing large lesions inside my mouth which made it difficult to eat – my dentist treated it as it were thrush, unnecessarily prescribing an almost toxic level of medication which did not help, but made me feel more ill.
I eventually saw a dermatologist whom I was told works with scleroderma patients, but he did not feel it was related to scleroderma and attributed it more likely to stress.
My Raynaud’s episodes became more frequent and severe and I began developing lesions on my fingertips as well as calcinosis (painful little lumps of calcium beneath the skin) on my knuckles.
After a lifetime of being oddly healthy I seemed to keep getting sick very frequently! I experienced various colds, a week of vertigo, and a painful bout of what appeared to be shingles. Reading about other scleroderma experiences from Facebook groups I belong to, all of these strange and diverse manifestations could be associated back to scleroderma, though no doctor has ever told me this for certain.
My GP was following me carefully during this time. Bloodwork indicated my creatinine was rising (a sign of kidney damage), so my doctor referred me to specialists but there were long waiting lists and they were unwilling to see me urgently as they did not find my creatinine distressingly high.
In addition, my blood pressure was low which is not consistent with kidney failure. During this time, I was becoming weaker and ever more fatigued. I would often take my work ‘coffee break’ in my car to have a cat nap.
Exasperated by our local specialists, my GP contacted the nephrologist (kidney specialist) on-call at a teaching hospital in the city near our community. Both doctors agreed I should report to that hospital’s Emergency Department right away. I spent an entire day in ER, I believed waiting to be prescribed meds, but ended up being admitted. I was in hospital to be monitored and receive a kidney biopsy.
I was diagnosed with Scleroderma Renal Crisis. Renal crisis is one of the less common but dangerous manifestations of scleroderma. It was tough to diagnose because in my case I was part of a 10% subset of people with renal crisis who have low blood pressure rather than sky-rocketing BP. The doctors tried medications; however, my low blood pressure could not sustain the indicated medication levels.
I was fortunate to receive therapeutic plasma exchange and doctors applied for grants for wildly expensive medications to help improve my vascular performance.
My anaemia became worse as my kidneys failed. My kidneys continued to fail under close supervision and just about the time I would have had to go on dialysis I also experienced terrible muscle inflammation and my heart function dropped by half.
I was admitted to hospital and began dialysis along with twice-weekly plasma exchange and at last the experimental medication, all of which worked together to bring me back to well enough to go home after several weeks in hospital.
Since that time I have added immune suppressant medication to my list of drugs and blood pressure meds as that eventually did become an issue as well.
My physical appearance has changed beginning with weight loss. My eyebrows and eyelashes fell out, as did the hair under my arms. My hairline noticeably receded. My face appeared very puffy and for a long time friends who saw me assumed I had gained weight when in fact I had lost so much that skin was hanging!
My skin is tight in face, hands and feet and up the arms and legs. I can no longer bend my toes and my hands are curling. The tightness in my face has made my mouth smaller, I can still eat but cannot open my mouth as wide as most people.
The telangiectasia have spread across my face and over most of my body. I have a catheter in my abdomen for dialysis and a central line exiting near my collarbone through which I now receive my plasma exchange treatments.
Learning To Adapt
It was a difficult transition from super-busy woman to super-sleepy woman, but at that point I had no choice; I had no energy or strength and a great deal of pain. I remember being taken to the grocery store and crying because I was not strong enough to lift a pineapple, or having to leave because the smells of food would cause me to vomit. We kept trying. I do what I can, when I can, and my family filling the gaps.
Since that time, I have had difficulty adapting to the immune suppressant medications which cause further anaemia and GI issues. I have received several blood transfusions but we are hoping to get to the correct balance of medications (through experimentation) to combat nausea and to help create red blood cells while fighting the auto-immune response.
I see an Occupational Therapist who helps me find solutions to the problems of daily life that are caused by reduced strength, energy, and range of motion. Everything from facial stretching exercises to tips and tools for bathing and toileting. Finally, I have access to counselling at the hospital which I gladly take advantage of when I need some help gaining perspective.
Changing As A Person
On the surface, this disease has changed my body, scleroderma can be miserable and frustrating from the physical perspective. I obviously would not have asked for this disease, however, in some ways it has provided blessings. I was forced to slow way down. I was able to strengthen relationships with people in my family and become reacquainted with old friends I had not taken the time to reach out to for years.
Before I got sick, I knew that I was very fortunate, but since I’ve been ill each day has a sweetness about it which I appreciate far more than I ever did before. I have found my strength in my family, friends and faith. I have remained optimistic (for the most part) and have focused on this so as to not allow pain and fatigue to take over more than my body.
To do this I read and watch things (like Ami’s blog) which inspire me, make me smile or outright laugh. I turn off music that makes me feel agitated or negative. I am trying to educate myself about my disease and provide support to others in online groups where I can, but stop myself when I find the information begins to cause me to feel morose.
I make a conscious decision to find perspective, recognizing the suffering of others, and to stop feeling sorry for myself when those days come. I am open to receiving counselling and highly recommend it to others, whatever their situation, if they are anxious or depressed, as I have found the strategies learned so useful in my pursuit of perspective and optimism.
Finally, I find that attempting to help others gives me great satisfaction and an improved sense of well-being; whether giving newcomers to the hospital directions or writing posts for the Sick With Optimism blog, helping others, even in such small ways, makes me feel more like the old me.
My Favourite Superhero
Okay, so favourite superhero, that is complicated! I feel like I should say Deadpool because Ryan Reynolds is a fellow Canadian, but Deadpool is too much of a “potty-mouth” to reach hero status for me.
As a kid I wanted to BE Wonder Women, as in Lynda Carter from the 70’s television series. I loved how she was so strong and good, I often pretended to be her, much to the chagrin of my friends who thought I was sooo immature!! The outfits were a little, well, skimpy, but other than that if I could have been her, I think I would have–What I could have done with a lasso of truth alone!
All of that being said, truth be told I prefer real-life heroes to the comic book variety. Real-life heroes like the inimitable Undercover Superhero, Ami Tricker, who has overcome so much in her young life and continues to lead as an advocate and inspiration to those of us with chronic illnesses and disabilities. A real-life hero is better than a fictional one any day of the week! Thank you Ami for all you do!
Thanks Gina for sharing your story with my readers and me!
P.S. Thank you Gina for your very kind words!