PART 1-'s History

[Guest guest]

Heidi, here is my history. It's lengthy and pretty detailed, but I had repeated it to so many different doctors that I began writing it down early on. As I look back, the symptoms jump out like classic RP. Reading all of the other histories has been so helpful in better understanding this disease. Thanks for your tremendous efforts.

In early Sept. 2000, I went to my PCP with symptoms of a sinus infection, flu-like aches, and a feeling that my ears were stopped up. I had just flown back from Dallas and felt like my ears never popped open after we landed. That Dr. said my ears were bulging and I probably did have a sinus infection, so she started me on an antibiotic and Humibid. After 10 days, I returned to her, feeling worse, not better. So we tried another antibiotic and a 6-day Medrol Pac - my first time on steroids. I felt great for the first 5 days, but on day 6 was back to the same symptoms. My 3rd appointment was with another doctor as my PCP was out of the office. He put me on another round of antibiotics and a 12-day dose of Prednisone. He also thought maybe I had a sinus disease and scheduled me for a sinus CT and follow-up appointment with an ENT. The ENT found no sinus disease but put me on a forth round of antibiotics and prednisone for 12 days. On day 13, all of my symptoms returned. By now it was mid-October. I woke up one morning with an incredible wheezing every time I took a breath. I went back to my PCP. She thought I'd developed asthma and prescribed 2 asthma medications and 12 more days of prednisone.

Since I'd always enjoyed good health, I was completely baffled by all of this. So, I started keeping an Excel spreadsheet of my symptoms, doctors' appointments, medications, and results. This proved to be invaluable because with each new doctor I was referred to, they'd ask me to start from the beginning. I simply took a copy of my spreadsheet and walked them through my medical history to date with all the facts.

By late October 2000, I developed a violent cough. In fact I coughed so hard I hurt my back. My PCP prescribed Tusselin Perls to stop the cough. In early Nov, I awoke thinking my entire chest cavity was on fire. My husband took me to the ER and after a chest x-ray and discussion of my symptoms, the ER doctor thought I was developing pneumonia so he prescribed yet more antibiotics. The next morning I called my PCP and said, "Look, you know me...I never get sick. What's happening to me?" Her reply was, "Well, sometimes your immune system can get turned on and just forgets to turn off, then it sort of attacks your own body." I asked when this would stop, and she said, "Well, I don't know. I've only had one other patient and it took her about 2 1/2 years to get better."

The next morning, my husband took me to a new doctor who said that 2 1/2 years was just not acceptable and vowed to find out what was wrong. He did a chest x-ray and said, "This is not pneumonia, but you do have a fractured rib from coughing so violently." He also did an EKG and then blood tests that showed my SED rate at 110. He thought from my chest pain that I was having a gall bladder attack. He referred me to a surgeon who ordered abdominal scans and other tests. My gall bladder was removed the next week. The pathology reports showed that it was diseased. I felt relief from the burning pain, but the more chronic pain in my chest persisted. In early December 2000 I was referred to a pulmonologist who diagnosed me with costochondritis. After starting me on 40 mg of Prednisone I finally got relief from that pain, but my Pulmonary Function Tests were about 50% of predicted and I was extremely hoarse. He ordered more blood work, scans, etc. and asked me to come back in four days. I had no energy to move at that point and would sweat profusely just getting into the car. If my husband hadn't taken me to all of my doctor appointments, I don't think I would have made it. When I arrived for my appointment, the Pulmonologist had reviewed my results and had made arrangements to admit me into the hospital. My liver enzymes were about 15 times higher than normal and my SED rate was over 110. I also told him I felt like I had a weight on my chest when I was lying down. He formed a team of specialists including a Cardiologist (heart was ok), a Gastroenterologist who did more liver function tests, an Infectious Disease doctor who kept running different blood tests, and an ENT who confirmed that my sinuses were okay. I was really jacked up on Prednisone at this time and felt no pain, but each doctor visit began with, "Where do you feel pain?" At 240 mg of Prednisone, I felt like building a small wing onto the hospital! After 8 days, my liver enzymes started going down and none of the blood work pointed to anything conclusive, even the Wegener's Granulomatosis came back negative again. So with reduced Prednisone (40 mg) and more asthma medication, I was discharged to go home where I slept for 20 hours a day.

Near the end of December 2000, two of my finger tips turned red and began to swell. I went to the Pulmonologist who prescribed an antibiotic and referred me to a Rheumatologist thinking some type of vasculitis may be involved. Before I could get into the Rheumatologist my right elbow, right big toe, and left knee began to swell. My PCP did a blood workup and said my SED rate was 110 and climbing. He called the Rheumatologist and said, "She's on her way-work her in!" The Rheum. aspirated my knee and had it cultured. There was no infection because of the antibiotics I was still on for my infected fingers. There were no crystals and the Wegener's Gran. test also came back negative. I stayed on Prednisone to control the swelling and saw him every other week or as needed. In January, my PCP asked me to see a Pulmonologist colleague that he knew would not give up until he solved my mystery disease. He said he could just look at me and tell I wasn't getting better. He also looked up my nose and noted that it was very swollen. I thought it was just stuffy and was taking Afrin. The new Pulmonologist did another Pulmonary Function Test and noted that my breathing was getting worse-42% of predicted on expiration. He wanted to review all of my past medical history and then schedule me for a bronchoscopy. In early March 2001 I had the bronch which revealed that my trach was about the size of a straw. The Pulmonologist's eyes were as big as saucers. He said, "You're going to Mayo Clinic next week."

The next day, I saw the Rheumatologist again and told him I was going to Mayo. He asked me if I'd ever had any ear problems. Yes, I had for about a week back in February, but I thought the ear was red from bending it while sleeping since I could no longer breathe well enough to sleep on my back and had to lay on my side. He then asked about my nose. I told him about my PCP's comment that it was swollen back in January just before the ear incident. He left the room and came back with a medical book, and we began to read about a condition called Relapsing Polychondritis. He'd seen one case in his 20 years of practice and thought this might be it. He then called my Pulmonologist who had already consulted with his colleagues about this same possibility. They felt sure that Mayo could confirm their suspected diagnosis and prescribe a treatment plan. By March 29, 2001, I was diagnosed with both RP and Wegener's Granulomatosis overlapping (Mayo's testing was more sophisticated than the blood work I'd had done here and I now had a positive C-Anca). My PFT was now 32% of predicted on expiration. The treatment plan was to start Cytoxan immediately and go up to 150 mg per day along with 40 mg of Prednisone, Fosamax, Bactrim DS, and Prevacid for my stomach. Weekly CBC's and urine tests were done in my PCP's office to monitor my white blood count and kidneys. We planned to start decreasing the Prednisone by July.

The bottom line is after 6 months, 14 doctors, and 3 hospitalizations, I got my diagnosis and treatment plan. I give full credit to my PCP who never knew me when I was totally healthy, but listened, asked questions, read all of the other doctors' notes, kept studying my spreadsheet, and kept referring me until he got some answers. He also fought with my insurance company when they refused to pay for certain medications and even involved the insurance commissioner when they denied my Mayo claims. Note: on 1/1/02, I had to change insurance companies and he's not in their plan...very, very sad.