Always remember you are braver than you believe, stronger than you seem, smarter than you think and twice as beautiful as you’ve ever imagined.Dr. Seuss
So what am I sick with (besides optimism)?? I’ve struggled to write this post as I would like my blog to be as positive and optimistic as possible. After much consideration I had determined it would be good to give an overview of my illness to-date so you may better understand where I am coming from and hopefully to help others who may be struggling with similar issues.
Hard to say, hard to diagnose and hard to predict!
It was not a simple process to receive the Scleroderma diagnosis. During one of the most stressful periods of my life I experienced unexplained swelling in my right hand and arm. Many causes needed to be eliminated, from blood clot to carpal tunnel syndrome requiring a large number of specialist visits and a battery of tests from ultrasound to nerve testing. The final clue was from a blood test indicating that my ANA was abnormal (a marker for autoimmune disease).
After four of five months of aggressively pursuing an explanation for the inflammation in my arm I had my answer. I was diagnosed by a rheumatologist who had worked as an intern at the Mt. Sinai Hospital and University of Toronto Scleroderma Clinic. She considered my ANA level, my long-term experience with Raynaud’s phenomenon and acid reflux. But the tell-tale marker for her were the appearance of nailfold capillary abnormalities. Scleroderma is considered a rare disease. Had my rheumatologist not worked in the Scleroderma clinic it is hard to say how much longer it would have taken me to receive my diagnosis, so I feel fortunate to have been referred to her when I was
Localized Scleroses – CREST Syndrome
Scleroderma, which means hard skin, is essentially an autoimmune disease, where your own immune system causes you to create excess collagen. The symptoms are diverse and not everyone with Scleroderma experiences the same symptoms and outcomes. In general, the disease is divided into two camps Localized Scleroses or Systemic Scleroses. As their names imply, localized scleroderma is not as devastating (in most cases) than systemic. In my case the Scleroderma appeared localized; at first I demonstrated 4 of the 5 symptoms of CREST syndrome, usually found in those diagnosed with localized scleroses; by the end of that year I was experiencing all five.
CREST stands for:
C – Calcinosis, painful calcium bumps on the skin. This was the last symptom of the five CREST tells I developed. These were primarily on my finger knuckles.
R – Raynaud’s Phenomenon a lack of blood circulation to the fingers and toes due to change in temperature (cold) and stress. I had been experiencing this symptom for many years. Beyond my fingers and toes turning white, and sometimes blue, I did not realize how serious this sensitivity to the cold was.
E – Esophageal dysfunction which I dismissed as I had been experiencing acid reflux since my early 20’s so initially refused the medication for this. This symptom can also present itself as difficulty swallowing, which I did not have a problem with at that time.
T – Telangiectasias which are red spots, mine were on my face (just my left cheek bone) for months before my diagnosis, I had presumed it was rosacea. I later developed them across my face and on my arms and legs.
CREST is typical of localized scleroses. I assumed my scleroderma was localized and did not research the disease much further than that. Ever the optimist! When I did look at the potential symptoms of severe or systemic scleroses I did not like what I saw and felt that it would be hard to remain positive going forward if I immersed myself in this information. That being said, I obediently went to all follow-up appointments including pulmonary and respiratory function screening.
In terms of treatment, the only thing that could be recommended was medication for the Raynaud’s Phenomenon. I took Nifedipine to help dilate the blood vessels. I also learned that each episode of Raynaud’s could result in permanent damage so began to be somewhat more proactive in protecting my hands and feet from the cold. I was also prescribed pantoprazole for acid reflux but initially rejected that until the doctors told me that not treating the reflux could lead to esophageal cancer. My local rheumatologist also referred me to the Toronto-based Scleroderma Clinic at Mt Sinai Hospital to be assessed and followed there as well.
My Bad Year – Systemic Scleroderma
Within months I started to experience worse and new, strange symptoms. Beginning with a bad taste in my mouth that ended up with sores or lesions in my mouth. I saw my dentist and an oral specialist recommended by my gastroenterologist, a dermatologist, a more specialized dermatologist and others who either could not or wrongfully diagnosed and treated the issue. I was unnecessarily treated with strong drugs for what my dentist thought was thrush. Other doctors wondered if it might be Sjogren’s syndrome (which starts out as dry mouth and eyes, found in those with autoimmune disease). When the weather became colder I began to develop sores on my fingers, a result of the Raynaud’s Phenomenon.
As the months went on I seemed to be picking up viruses steadily, including a bout with what appeared to be shingles. This was completely unprecedented as I had always been one of those people who seldom required a sick day from work. It was uncovered that I had anemia, but was not sure if the anemia was the cause or the result of my string of illnesses. Gradually my creatinine began to creep up. My GP monitored me very closely with blood work and frequent visits, even calls to discuss my test results. She was alarmed by the creatinine increasing and attempted to get me in to see other specialists including a hematologist and a nephrologist. She was frustrated by how long it would take to get me in so called the nephrologist on-call at Mt. Sinai Hospital (Toronto) Emergency department to discuss. They along with my rheumatologist determined that I should report immediately to ER for assessment.
After a stay in hospital where my blood and vitals were carefully monitored and I received a kidney biopsy it turned out I was experiencing Scleroderma Renal Crisis, I was in the early stages of kidney failure. This is one of the more rare complications of scleroderma. The standard treatment was to take Captopril or Ramipril, which are from the family of drugs called ‘ACE Inhibitors’ typically used for patients with high blood pressure. In fact, most patients experience renal crisis have high blood pressure, but in my case my blood pressure was low. This caused a problem in terms of dosing the medication; it seemed I could not take enough of the medication to stop the kidney failure. I started eating more salty foods to try to bump my blood pressure up!
As my kidneys continued to fail, my anemia became worse. The swollen nephrons in my kidneys were actually breaking my red blood cells. It was difficult to say if my extreme fatigue and growing weakness was due to the autoimmune disease, the low blood pressure or the anemia, but all I wanted to do was sleep. I was also freezing cold all the time.
About six weeks from my first hospital stay I was admitted again. My nephrologist referred me to her colleagues, hematologists, at Toronto General Hospital’s Apherisis clinic. I began receiving plasma exchange treatments as an inpatient and continued on an outpatient basis. I didn’t fully understood why, the idea was to break up clumping blood cells and remove antibodies from my plasma to hold back my disease.
Anemia continued to be an issue, therefore, I began receiving injections of Aranesp. This medication was used because my kidneys apparently were not producing the erythropoietin, or EPO, which helps the bone marrow create red blood cells. The dose necessarily starts out low and builds up. It was nearly a year before my red blood cell count began to rise appreciably.
Kidney Failure and Cardiac Involvement
About four months after diagnosis I began to feel extremely weak, to the point where my husband had to lift me off the toilet. I found myself again in the ER at Toronto General Hospital. My kidneys had failed and my cardiac function was about 50%. I had been preparing for the need for dialysis for a month or so at that point and had been booked for a catheter insertion so that I could receive peritoneal dialysis. However, as my disease had become accute I was fitted with a central or tunneled line to receive hemodialysis treatments, which also made the plasma exchange treatments much easier.
My doctors also tried me on a drug called Tracleer (Bosentan) as my situation was worsening rapidly. My nephrologist had wanted to try me on this medication earlier but my private insurance would not cover the drug as it was an “off-label” use of the medication. I applied for a grant from the government but was twice denied. Unfortunately for me, a paper had been published at about the same time as my application which put the drug’s efficacy for scleroderma in doubt. However, it seemed to work well for me when I started taking it, in fact my heart function returned to normal in rather short order. After three and a half weeks in hospital I was delighted to be headed home.
When I became more stable my rheumatologist prescribed an immune suppressant drug. Typically after renal failure the skin tightening from Scleroderma improves but in my case it did not. The immune suppressant, mycophenolic acid, also causes anemia, so red blood cell count continued to be an issue. At about this same time I switched from hemodialysis at the hospital to peritoneal dialysis I could do at home.
I seemed to be tolerating the immune suppressant drug but could not go up to the full dose due to my anemia. I ended up with a cold and a bad cough I couldn’t shake while I was on it. I spent another week in the hospital as my heart began to show early signs of distress. That returned to normal but I then developed a skin infection that required antibiotics. At this point I went off the drug for a few days which helped to clear everything up.
When my cough started again and wouldn’t seem to go away I was sent for a chest x-ray and an ultrasound. I was shocked to learn that I had developed blood clots in my neck above my central line. The theory was that the line was slowing down the flow of blood above it giving the blood the time and opportunity to form clots. I needed to give myself injections of blood thinners for about a week until I got to a safe level to start taking oral blood thinners. I have to say, I started to feel pretty discouraged at that point. Maybe it was the needles or maybe it was just that feeling like it was never going to end. I told myself I was allowed to feel sorry for myself the rest of the evening but the next day I would move on. Surprisingly enough that worked for me. I realized that many people take blood thinners (I am taking warfarin) and that I had the luxury of weekly blood tests when I went for my plasma exchange treatments. Closely monitoring my INR to ensure I stayed at the right levels and I could make adjustments to my medication.
Stronger Than I Thought
A year from diagnosis I was on twice weekly plasma exchange in Toronto, nightly dialysis at home, increasing doses of Aranesp to help boost red blood cell production and a handful of oral drugs, including the Captopril, Tracleer, Warfarin, and some medications for pain as well as prescribed vitamin and mineral supplements. Even though I was constantly fatigued I felt optimistic about my situation. I was stable and I realized I was stronger than I thought and able to accept my new normal, even when those around me struggled to. I couldn’t anticipate what was to follow, the steps forward and set-backs but I felt I was in good hands and was joyful to be alive.