I have the honor and distinct pleasure to represent Team Genzyme/Running for Rare Diseases in the 2014 Boston marathon. The focus on this year’s race is heightened for obvious reasons, and I hope that some of that attention lands on the courageous patient partners on whose behalf we dedicate our efforts. I offer up the incidental discomfort that I experience a week from Monday to those who are suffering every day with their circumstance and hope that this experience draws attention leading to cures for all rare diseases. Not only do they live with the reality of their condition, but the added burden of living without answers and in most cases, a cure. They are champions. I feel blessed to run for Gina and on behalf of all our patient partners.
So this is the story of my friend and patient partner Gina.
Is there a moment in time that you designate as ‘before LCH and, after LCH’ ?
Doctors aren’t sure of whether it is fast growing or slow growing so I don’t know how long it was growing on my rib. I definitely know it was there the month leading up to my diagnosis when I was experiencing a lot of pain. I think back to all the things we were doing in that month, all while having no idea that there was a tumor growing. It’s like watching a movie where you know something the main character doesn’t and you just wish they knew. Paulo and I were in a wedding two weeks before my rib broke…when I look at those pictures, I think about how there I was laughing and not knowing of the life changing thing that was about to unveil itself…who would have ever thought? I never printed those pictures because of that- they made me sad. When I look at our own wedding picture on the wall and other pictures through that past couple years, I want desperately to go back to when everything was “fine” and I had my health.
Your thoughts about the time when you knew something was wrong and the initial visit to the doctors; their assessment and the impact on you.
I remember the day I started feeling some pain. We were going to a Red Sox game in August. We had just parked the car and were walking towards Fenway. I felt a weird pain that I never felt before. It came and went periodically- I couldn’t even pinpoint the spot. I started already thinking of what it could be…maybe gallbladder? The pain didn’t go away so I went to my primary care doctor. She felt that I may have pulled a muscle in yoga class…but it didn’t feel muscular. She told me to take some Advil and see if it goes away. I did, and it got worse. I made another appointment. My primary care doctor was on vacation so this time with a different doctor. He felt that it was nerve related because the pain was sometimes in the front of my body and sometimes in the back. He felt that I had hurt my back and gave me a nerve blocker. I took it for a week and my pain continued to get much worse…sneezing hurt so badly, pushing open a door and driving were painful. Strangely the pain was worse at night when I went to lay down to go to bed. In general I just didn’t feel good.
I made another appointment for the following Monday, but I ended up in the emergency room before Monday even came around.
It was Saturday morning- September 22nd . I was not feeling well…feeling really tired too. I took a shower and began to brush my hair when I really didn’t feel well and decided to lay down. Then I was in extreme pain- couldn’t move. Paulo lifted me out of bed and helped me into the car…my hair was still soaking wet. We went to the ER, the doctors needed to give me morphine and Valium in order for me to be able to lay down so that they could run some tests. They initially thought that I may have had a blood clot in my lung and ran the blood work. It came back positive so they sent me for a CAT Scan. When the doctor came back in the room, she was upset as to why no one had ordered a CAT Scan until now. Then she told me I had a broken rib due to a pathological issue. I just laid there thinking how on earth did I have a broken rib? Paulo immediately asked what she meant by pathological. She turned to me and said “you have some sort of cancer that has caused your rib to break…you’re going to be out of work for a while.” She put her hand on my arm and said “I’m sorry.” She then left to get me more pain medication. Paulo and I immediately started crying. She came back and I said I had a question, but I was so overwhelmed with what she had told me that didn’t even know what to ask and just cried instead.
Your thoughts on the time up to the diagnosis of LCH and the roller coaster ride that must have been your life between that initial visit and diagnosis.
We went home…I called my parents who live right next door and told them to come over. I had a hard time telling them not only because it was awful news but because my mom had breast cancer 20 years ago. My parents were strong- amazingly they didn’t cry in front of me, they held my hand…told me it was going to be okay. I went the whole weekend not knowing what I was facing. At my “follow up” appointment on Monday morning, the doctor seemed speechless. I told him that I needed to see an oncologist that day and he got me an appointment at the Mass General extension of the Emerson Hospital. The oncologist ordered a biopsy and a bone scan of my entire body. She speculated that it could be either breast cancer or lung cancer that had spread or a bone tumor. The next day I went for the bone scan and then the biopsy the following day. Then I had to wait for the results. I think the waiting was the worst part of it…the unknown, thinking of the possible diagnosis, wondering if you’re going to live… just waiting.
I waited for a week before my follow up appointment with the oncologist. She came in the room and said “well, I had to do my homework over the weekend. You have something that normally occurs in children- it’s called Langerhan’s Cell Histiocytosis.” Neither one of us had heard of that and she proceed to ask “are you or your husband familiar with what an orphan disease is?” At that moment I felt a combination of hopelessness, completely alone, and panic because I knew immediately that there was no Genzyme for me. I had gone through life so cautious and took care of myself…ate healthy, exercised. I was your average person…how is it that I had a rare disease? The oncologist described the disease as an overproduction and accumulation of a particular type of white blood cell. I started to freak out because I was learning that this wasn’t just a tumor, this was a disease, this was in my blood. She said that the office had a combined 80 years of experience and no one had ever seen this and they did not know how to treat it- that really scared me. She told me she needed to find me a specialist. As it turns out, there was one specialist in Massachusetts but she was having a hard time getting in touch with him. My husband told her we’d fly anywhere to see a doctor. She said that she was reaching out to doctors as Mass General to see if they knew anyone who had seen this disease or had some experience with it. In the meantime I needed to go in for more tests to see if it was anywhere else in my body…apparently this could be single site or multiple site.
I went for a PET Scan and MRI…more waiting…another week before I got the call from the oncologist saying that it in fact had not affected any of my organs or other bones. I so relieved and excited. She also told me that she made an appointment for me to see a team of doctors at Mass General who had seen the disease…an oncologist, a radiologist, and an orthopedic surgeon. The appointment was in two weeks…more waiting When I got off the phone, all the worry about the disease affecting other parts of my body had left, and seemed to have made a large amount of space for reality to really sink in. I have a rare disease…the cause is unknown…there’s no medication to fix it. I wanted to wake up from this nightmare but I couldn’t. Since September 22nd, every morning when I woke up, there was this maybe 2 second time period where everything was fine. Then at second three, when I was completely awake, I would realize that this didn’t go away and I was still in what seemed to be a never ending nightmare. I had to remind myself of the positive…I’m lucky, it’s in one spot and it’s just a rib, things could be a lot worse.
The Mass General doctors felt that I should wait as this sometimes it goes away on its own (again unknown as to why). If it didn’t go away then they’d do a steroid injection into the tumor and if that didn’t work, then a low dose of radiation. I found the specialist that the oncologist had originally mentioned- a hematologist at Dana Farber. I made an appointment with him for a second opinion. He told me that the disease was recently classified as a non-traditional cancer of the blood. Up until then I had been told that this was a “gray” area, and some referred to it as benign. He explained that it wasn’t genetic and that the cause of what triggers it is unknown. We asked him if there were any clinical trials that I could be a part of. The only one taking place at that point involved those who had multiple sites affected. At that point I signed a bunch of documents in which I agreed to have my blood, etc used for research. I didn’t care about privacy anymore, I wanted to help find more about the disease so that a cure could be discovered. The specialist recommended a low dose of radiation. I didn’t know what to do- do I get radiation or see what happens if I let it be? I then went to Beth Israel and saw a team of doctors there. They had the same recommendation as the Mass General doctors- the tie breaker. I decided to wait and see if it went away on its own as radiation had its own set of negative long term effects.
A month had passed since the ER visit – the pain had diminished quite a bit and I decided to go back to work to take my mind off things. It may have been a little too early to go back, as I was out of breath from just walking across the room and sometimes couldn’t get the car out of the parking spot. I was tired and sore by the end of the day. At work, people knew I had been out, some knew why, and in the cases for those that didn’t, I told them why. I didn’t tell about it being a rare disease though, I wasn’t ready to talk about it. I still didn’t know much about it- how would I even explain this? At that point I needed to deal with one thing at a time…when the tumor went away I would tell people that it is a rare disease.
I went for an MRI every 6 weeks and each time the tumor got smaller and smaller. In January the doctor said that it had shrunk enough that he felt comfortable with waiting to having a MRI in 6 months. I was really happy, yet still nervous…it was a rare disease…lots of unknowns. What if got bigger instead? What if it came back somewhere else in my body? Every ache and pain made me anxious.
July came around for another MRI…it was clear. I was relieved but still unsettled as this wasn’t just about a tumor- this was a disease. Since I wasn’t “out of the text book” as they referred to me, the doctor suggested that I have a PET Scan at the one year mark. I recently had a PET Scan of my whole body which came back clear- good news. My treatment plan is to see the hematologist every 6 months. Since active LCH is only diagnosed through a biopsy, the treatment moving forward is to monitor blood work (look at any changes that could be predicative of it presenting itself somewhere in my body) as well as any symptoms. This provides some assurance that I’m healthy, though as I mentioned, I get anxious over any ache, any pain, or change.
Now that, thankfully, you appear to be asymptomatic, what is the most profound difference in your life?
I don’t have active LCH now. Enough time has passed where I feel I’m in better place- that doesn’t mean that a day doesn’t go by where I don’t think about it or question every symptom. The diagnosis had shook me- I remind myself that life is short and I shouldn’t take things for granted or let all the small things bother me.
Your thoughts about the impact on Paulo and your family during your experience.
Paulo and my family were so supportive. I learn now that Paulo was freaking out inside. He wanted to stay strong for me and be positive and didn’t want to reveal how upset he was because I was so upset. I imagine this was the same case for my family. My parents live right next door…they would be over day or night. I’d have moments, sometimes at 10pm at night, where I would be very upset- they’d come over no matter what time and talk to me and comfort me. My mom would make meals for us and give me talks about how important it was for me to eat (I had lost my appetite) and visualization techniques. My mom is a very strong person- she’s my inspiration- this was my chance to try to be strong like her. My brother stopped by after work a lot and sometimes would stay over to be with me. I can’t imagine what they were going through- trying to be strong on the outside when I’m sure they were having a hard time on the inside.
I don’t know what I’d do without Paulo and my family.
What do you want people to know about those dealing with rare disorders?
I’ve been working at Genzyme for 13 years. I always knew how important our work was- there were often patient speakers who came to the site, was which was very impactful because it reminded me that we are all making a difference in someone’s life…patients rely so much on Genzyme and its employees for the therapy that keeps them alive. I feel that sometimes it’s easy to get caught up in work and lose sight of that connection. Even though I knew this, I always thought of a rare disease patient as someone far away (I know that sounds ridiculous)…probably someone I wouldn’t meet except for at work when we had patient visits. I never thought it would be me. I wanted to step forward and be a patient partner to help bring awareness to rare diseases- it could be you, it could be the person in the cubicle next to you, and it could be the person you’ve known your whole life. I want to make a difference- you (Pete) are helping me and you are helping the rest of the rare disease community- thank you.
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