Testimony to the Outreach Hearing on Compassionate Allowances for Autoimmune Disease
March 16, 2011
Mr. Commissioner, members of the Hearing Panel, distinguished guests, and interested citizens, good afternoon, I’m pleased to be here today to address the panel and share my experience as a diffuse scleroderma patient. I have come to know that each person’s scleroderma is their own. I also feel blessed that I can be here, to speak on behalf of my scleroderma friends who lost their battle to this strange and unpredictable disease.
Sixteen years ago, at the age of 43, I was a healthy woman. I had reached a high point in my career. I passed the CPA exam and was appointed as the first female supervisory auditor in a branch office of the federal Defense Contract Audit Agency, advancing from a GS 3 to GS 13 over the course of my career. And then something started to change. I became very fatigued, but I chalked it off to doing too much – I was finishing my Masters degree at night, had two teenagers, and was working long hours in my new position. But then there was a Red Cross blood drive in our office building and I tried to give blood. They said “thanks, but no thanks”…followed up with “Do you feel okay? You should see a doctor because you are very anemic.” Well, I thought, that explained it – that is why I was so tired.
I followed the advice and went to a doctor who determined that I had iron deficiency anemia – the advice - go home and take iron supplements and I would be fine. I did that, but then other very strange symptoms began to develop. My hands and feet puffed up like balloons, I could not get my shoes on and it was tremendously painful if someone shook my hand, feeling as though they were inflamed and on fire. My joints ached and I needed help getting out of a chair, my hands changed colors when I was in the freezer section of the grocery store, and the fatigue intensified. I remember considering closing my office door and lying on the floor. One day, I actually walked out to the parking lot and lay down in the back seat of the car. I would go home from work and collapse in a chair, often with my coat still on, and fall asleep.
I continued to seek medical help. I went to a hand specialist, who said I had carpel tunnel. I went to a hematologist, who confirmed the iron deficiency anemia and had a colonoscopy to try to find the cause of the anemia, which had not improved. I even flew out to the Mayo Clinic in Rochester, MN to try to find out what was wrong with me, only to be told I had iron deficiency anemia. I cried on the airplane on the way home, knowing I was sick but not knowing where to turn. At this point I had seen 5 different doctors. One day my teenage daughter suggested that I see a local rheumatologist who had helped a friend of hers with a rare autoimmune disease that had some similar symptoms. At this point, I did not know what an autoimmune disease was or what kind of doctor a rheumatologist was.
After one visit and a series of blood tests, the rheumatologist said, you probably have general lupus. I was not happy to hear that news, but was relieved that someone was going to help me figure out what was wrong. He did more blood work and at the subsequent visit he said, “well, based on this blood test, you don’t have scleroderma; that is good.” I asked “why, is that worse than lupus?” He said it could be much worse than lupus. He prescribed prednisone, prilosec and plaquanil.
I had monthly visits to the rheumatologist, each time reporting a new symptom. Intense itching, severe acid reflux, strange skin pigmentation changes (I called it my Gerry Garcia tie dyed legs), my face felt like I had a tight facial mask on it, my hands started to harden and I was unable to flatten them, and my shins were very painful when I walked. I told the rheumatologist that it seemed as if you should be able to hear the grating in my shins. He spun around, put his hand on my shin and knew what he was feeling - tendon friction rubs, which can be an early hallmark symptom of scleroderma. After six months of visits, we figured out that I did not have lupus, but had scleroderma. My medication was changed to DPenacillamine, a drug some doctors were using for scleroderma and we made arrangements to visit one of the larger scleroderma centers. It was this visit to Dr. Thomas Medsger, a leading scleroderma researcher at the University of Pittsburgh, that confirmed I had scleroderma. Yes, I had tested negative on screens for scleroderma, but at a university center, they could test for other scleroderma autoantibodies, and I tested positive for a lesser known autoantibody which indicated that I had the diffuse form of scleroderma and I could be more prone to kidney involvement. Diffuse scleroderma is the most devastating form of the disease because it attacks many of the bodies organ systems, including heart, lungs, kidneys, and the GI and vascular systems.
I struggled to work, finding it harder and harder to keep my head above water. I was still anemic - the iron supplements became painful iron injections and then blood transfusions. It was thought that heavy menstrual periods were the cause of the anemia, so a hysterectomy was recommended. I reluctantly agreed. Unfortunately, the anemia continued. After struggling to work for over four years, I finally applied for and was granted, federal disability retirement. While a relief in one regard, it was also a huge loss for me, as it marked the end of the career that I had worked so hard for.
I was then able to do a better job taking care of myself. I also participated in two clinical research trials. The most intensive involved a double blind trial wearing a pump that delivered medication 24/7 subcutaneously in the abdomen, complete with monthly evaluations. One of the evaluations measured the hardness and thickness of the skin. The highest skin score a person could have is 52 – that meant your body was like stone all over. When I started the trial, my score was 36. Over several months it dropped to 22. My husband and I were certain I was on the drug. All of a sudden, I received a call to stop the trial. It was concluded that the people on the drug were doing no better than the people on the placebo. And then the shocking news: I was on the placebo. Two possible answers for my improvement were either the placebo affect or the normal “waxing and waning” of the disease. The overriding message to me was, no wonder this is such a difficult disease to find the cause and cure for, since it can be very unpredictable.
Over the past few years I also have had two surgeries on my hands. These surgeries were to increase the blood flow to the hand, removal of painful and ulcerated calcinosis from the tips of my fingers and thumb, and also pins in the joints to keep the finger in a permanent open position, which is more usable than in a permanently flexed position.
Since I had a difficult time finding out about scleroderma, I started a local support group and became involved in the Scleroderma Foundation, serving in various capacities, including Executive Director of Tri-State Chapter (NY-NJ-CT) for six years. My involvement has given me some real insight into how nasty diffuse scleroderma can be and the challenges patients face each day. On several occasions I have been asked by patients how to navigate the disability maze. It seems to be most difficult for the underserved patients who may not have a scleroderma specialist, who would be more knowledgeable about the relevant disability services. While the process is not identical, I do know that the paper work I submitted for federal disability retirement was voluminous.
I have a tragically long list of scleroderma friends who lost their battle to this disease. I think of my friend Gina, who lost her battle with diffuse scleroderma a year and a half ago; she was 47. She talked about applying for SS disability, but was reluctant, thinking of the stigma that is attached to being “disabled”. I often wonder if she would still be here today if she had applied.
Often people will ask me “is your scleroderma in remission?” The best I can say is, I think it has quieted. But then I come back to the beginning – the anemia. During a scleroderma patient educational forum I arranged, a noted scleroderma researcher described a scleroderma gastrointestinal condition called watermelon stomach. The name comes from the appearance of “watermelon like stripes” on the inside of the stomach, which are caused by small bleeding blood vessels. And guess what the primary symptom of this condition is? Iron deficiency anemia. I quickly made an appointment with my gastroenterologist for an endoscopy and sure enough – he gave me a picture taken during the procedure –which was the prettiest watermelon stomach you ever saw. The treatment is periodic argon gas cauterizations of the blood vessels; I remain anemic even on this treatment.
As I said in the beginning, each person’s scleroderma is their own. After running a support group for 15 years, I have yet to see two people with an identical set of symptoms. Many people with the limited form of the disease can manage it with the care of a good doctor. But diffuse scleroderma is another story entirely, since the serious threat of organ failure and death greatly increases the seriousness of their situation.
Last year one woman with diffuse scleroderma was diagnosed around Valentine’s Day and lost her battle on Christmas Day. Last week a woman had her leg amputated due to a wound that would not heal. I lost four friends to heart involvement – one a forty year old woman with three preschool children. I also recently lost a friend in her early fifties due to gastrointestinal complications. By far the most life threatening condition involves the development of lung and heart involvement.
I thank you for being able to share this testimony. Because of the severe impact diffuse scleroderma has on the body’s organ systems, I request that it become a part of the Compassionate Allowance program. Thank you for this important opportunity.