I was first diagnosed with diffuse scleroderma in October 2013 at 43 years old. At that time I was a single mother raising three children working two jobs as an ultrasound technologist. I have always led an active lifestyle which included hiking, skiing and running. I had completed 3 half marathons and at that time I had just started training for a Spartan race. Unfortunately that came to an abrupt halt! Out of what seemed nowhere I developed notable swelling in my hands and fingers which persisted for weeks. At first I thought I must have injured myself training. But as it persisted it also lead to swelling of both my legs something I had never had before. Clearly something else was going on. I had no prior underlying medical conditions. I was the kind of person who had never taken more than an ibuprofen for any kind of pain or illness. I had gone to see a local physician but after weeks of appointments and testing she still wasn’t clear on what was going on. At that point she recommended I see Dr. Robert Spiera, a rheumatologist at HSS. No matter what I tried things just weren’t getting better. Finally, I made an appointment to consult with Dr. Spiera.
Besides my obvious swelling, I had also had an unknown elevated blood pressure which was uncharacteristic of me. I had never had a raised blood pressure in my life prior to this. In fact it had always ran low. I walked into Dr. Spiera’s office completely unknowing of how sick I actually was. He took the time and listened to my story and my symptoms, drew my bloodwork, and examined me. He carefully listened about my symptoms over the last nine months. Dr. Spiera explained to me that what was going on with my body was called diffuse scleroderma, a rare autoimmune disorder that not only affects your skin but can affect your internal organs as well. Unfortunately at the time of my diagnosis Dr. Spiera had also determined I was in renal crisis. My blood pressure was so high it was taxing my kidney function. I was in complete disbelief. Much like I imagine most scleroderma patients are in when they are newly diagnosed.
That moment changed my life forever. From the minute I left his office that day through the next week or so of my life we aggressively tried to get my blood pressure under control. Without doing so I would’ve been placed on dialysis. Dialysis for a woman who was used to running 7 miles a day. Thankfully we were successful in getting it under control in what seemed like the final possible hours before he might have to admit me to the hospital. I am forever grateful for his assessment, diligence and expertise in his field. Since I had never heard of diffuse scleroderma before, I started to do my research. I found out diffuse scleroderma was a rare autoimmune disease that not only affected the skin but could affect multiple organ systems like the lung, kidney, heart and more. I found out there is no cure but only treatments that could help control it. My illness had gotten worse after the initial diagnosis. Although the renal crisis was under control I had started to develop many more symptoms quickly and aggressively. My skin had been tightening all over my body but primarily in my arms, hands and face. I was becoming short of breath where just walking up stairs I was becoming completely short of breath many times stopping mid way up. Simple tasks like buttoning my shirt or opening a bottle of water had become nearly impossible. I could no longer reach behind me to aid in driving. So many normal tasks I could no longer do. It was terrifying and happening very quickly. Unfortunately I found out this was the nature of this illness. I had researched and spoke with Dr. Spiera in great length about it many times. Since most people have not heard of scleroderma it was very difficult to talk to others about how I was feeling. It was hard for them to understand because with scleroderma you do not usually look sick. Many times I was scared and felt alone. How could this be happening? It seemed the only ones who understood were my specialized physicians.
Dr. Spiera had recommended that I go on a clinical trial at HSS for scleroderma patients. It was a double blind trial so neither I nor Dr. Spiera knew if I was going to get the medication. It was an infusion of an immunosuppressant medication. It was called belimumab, which is generally used for lupus patients to help control their flare ups. Over the course of a few months in this trial I noticed I started to feel a little better. Not as achy, less swelling, and my skin wasn’t as tight. I felt I was improving. This was my first sign of hope and relief.
I was on the trial for a year at HSS. Immediately following the trial we had concluded that I had been doing much better than where I started. We still didn’t know if I received the drug or not. It would be a year before I knew the results of that. The year following went well. Eventually I was told that I had indeed received the drug. I had regained my abilities to be active and started hiking again! It was the best feeling in the world until it wasn’t! Unfortunately about a year after the trial I had a relapse. This came on with a vengeance and as I’m told not very common to happen. All of a sudden I was getting short of breath again and my skin started getting tighter. I got to the point where I felt like my skin was completely restricting my movements. I continued to worsen. I did not reach out to my physician immediately because I was afraid to be put on stronger medications. I had just got my life back and didn’t want to be restricted in any way. But there came a critical point when my skin had become so tight that I could no longer extend my arms above my head. The skin was pulling from my legs through my torso and restricting my arms from going straight above my head. My face has gotten so tight it felt like it was suffocating me. It was one of the worst feelings in the world. One you never forget.
In desperation I reached out to Dr. Spiera again telling him of my new symptoms and what was going on. Because of the fact that I responded so well to belimumab in the trial I was originally on he decided to put me on a B-cell therapy medication very similar. Incredibly I started to feel relief very quickly. I have continued to to be diligent in seeing my rheumatologist and continue to take immunosuppressant medication. I have been able to regain my life back in full force. I finally started skiing and hiking again after years of being so restricted. For my son‘s 21st birthday we climbed the highest peak in Vermont, Mount Mansfield. It truly was amazing to get to the top and feel so good. I actually outclimbed him! I resumed most of the activities I had loved before. Last year in early 2020 I was able to go skiing with my husband in Whistler BC. Unfortunately I broke my right tibia and fibula requiring immediate surgery. Although tragic, the fact that I, a diffuse scleroderma patient who was once in renal crisis on the brink of dialysis and who after being stable for a year had an intense relapse, could actually even ski was incredible to me! I had regained myself again. Woohoo! Although I have my limitations and always will with this unpredictable autoimmune illness I know now I remain the person I was. Being faced with an unpredictable and rare illness can be quite overwhelming at times. I am so fortunate to have an amazing physician (and staff) who works endlessly to help find individual treatments for his patients. I find strength in the days when I feel good knowing I can do anything! I take those moments with me when I’m not feeling 100% and use them to push me forward.
I may not be able to climb Mount Everest anymore like I planned (due to the Raynaud's) but Kilimanjaro is still on the radar!