My name is Tamara Isaacs Ciocci and I have type 1 Gauchers Disease. It took 21 years to diagnose, 27 years to get enzyme replacement and 34 years to get the dose right. I have been diagnosed with rheumatoid arthritis at age 8, lupus at age 14, and leukemia at ages 8, 12 and 21. You might find my story interesting because my father, brother and cousin are doctors. In spite of all of this access, my father spent years trying to find a proper diagnosis to help me.
I was born in Los Angeles, California. I am one of five children…….two brothers, a sister and my cousin. They are all carriers for Gauchers Disease.
Most physicians in my early years ruled out pan ethnic diseases because my maternal grandparents are from Foussemange France dating back to Napoleon. The other side is Portuguese. I only recently found out that two orphaned members of my family from each side, were from Czernigov and the Ukraine.
My earliest symptoms were probably apparent from infancy. I was born prematurely and contracted chickenpox at the hospital. In those days, they didn’t keep you in the hospital…..they sent you home so as not to infect the ward! Sick premies? Get them out of here! My father a resident at USC, probably didn’t have health insurance either. Ironically, there were 3 siblings at home without chickenpox or fever.
My first significant symptom was at 18 months of age when I broke my left hip. It was as simple and complicated as falling off of a bed. It just broke. Anyone who has had toddlers will understand how strange this event must have been. I always refer to this event as my first sports injury as I was never athletic. It was also one of those domestic situations where my father was supposed to be watching 4 kids for an hour and everything went awry. I had surgery and was placed in a body cast for 6 to 8 weeks. My parents had to borrow a station wagon to bring me home. What I do remember from that time, was the pattern on the linoleum floor as I dragged myself around. I even remember being propped up on a ramp with sunglasses to go outside. Many of my baby pictures are head shots! It took a very long time to heal before learning how to walk all over again.
While the hip break was written off as a freak accident, I was continually sick. Whatever my siblings brought home, I would wind up with bronchitis, pneumonia and croup. My father used to bundle me up and take me on his rounds at night to the hospital and hook me up to a nebulizer. There was always an initial pattern: sore throat, fever and bone pain. I didn’t know how to explain it as a child, but I knew that whatever it was, it was extremely painful. I used to get anxious before trips because I was afraid it would hurt and I’d be too far away from home to be comfortable. By the time I was 8 years old, these illnesses were more frequent and more involved. All sorts of problems started to crop up. Lab work revealed low blood counts. Abdominal swelling and discomfort revealed a large liver and spleen. We went from doctor to doctor all to no avail until a hematologist determined that I had leukemia. There were plenty of tests and cultures, but no bone marrow biopsies. All labs pointed to leukemia. There was speculation about juvenile rheumatoid arthritis except for the fact that I had a large liver, spleen and a low platelet count. I also never tested positive for it.
This went on for a few years, all without answers and each episode leading to more questions, more specialists and more testing. At age 11, at the beginning of my 6th grade year, I fell very ill with what looked like mono. I had the usual symptoms I always had, (sore throat, fever, bone pain) except this episode took on a completely different trajectory. I became weak and bedridden. I have said this many times publicly, but will say it again. There have been moments in my life, where I have been too sick to go to a doctor. This was one of those moments. My dad and different colleagues took labs at my bedside before going to work. My friends weren’t allowed to visit me as their parents were frightened I was contagious. I had a home tutor from the school who tried to teach me as I laid my head across the kitchen table. Once an avid social and enthusiastic student, I could not have cared less. I missed more than 3/4 of my school year. In the fall, I was a running for student body president. By the spring, I had missed everything. I started to think I was crazy. Nobody I knew in my family or socially had these problems. It was an open question mark in my brain.
At 14, I met a rheumatologist who had taken a special interest in my story and diagnosed me with Lupus. I never had a positive Lupus test, but was probably relieved to have an answer. I think when you add the lab work, bone pain and liver and spleen enlargement, it’s a common conclusion. I was grateful to have a nice doctor who cared so much about me and my future. He was easily accessible and always made house calls.
One of the downsides to being treated for Lupus, was the medication I was given. When I say I had bone pain, I mean the kind of pain that renders you helpless. The idea of resuming normal activities becomes insurmountable. This is and has been a chronic problem for me even to this day. The treatment for lupus at the time, was steroids and an experimental anti malarial drug they used at that time. In spite of no positive Lupus test, I took steroids for over 6 years. In times of excruciating back pain, my father an anesthesiologist, injected steroids starting from behind my ear lobe and working his way down my neck to relieve the pain. I had more faith in my father than I did in some of the lab technicians and nurses around me. Over the years of poking, prodding, invasive testing and constant labs, I had developed a deep mistrust of doctors.
The down side of steroid use is that it causes weight gain. By the time I was 18, I had 45 pounds of fluid weight and a 42″ waist. My liver and spleen were about 20 times larger than normal. Even if steroids helped with pain, I went from a petite young woman with an active social life, to an embarrassed swollen girl with no desire to see my friends. It was a very hard time. At that time, I would’ve chosen pain over the self conscious feeling I had from steroids if it meant I would get my life back on track. The other problem with my steroid use, was that I still had a spleen and liver enlargement that restricted me from doing all of the activities I loved. I rode horses, sailed, water skied, snow skied and played tennis in times of better health. In my mind, there was no benefit to steroid use if I had to be so restricted and swollen. The low platelets revealed the risk of bleeding internally. One blow to the abdomen or a fall meant I could bleed to death internally or rupture my spleen. I felt my life was not congruent with the person I was. The worst aspect of steroid usage I would later learn, is that they cause bone loss. Not a little bit of bone loss, but a lot of bone loss. This is a problem that haunts me to today.
At 18, I went off to college in hopes of starting a new life. Sometimes transitions help you imagine the possibility of reinventing yourself. I was going to be a writer or an architect. I knew I had something that might be Lupus, but it wasn’t going to be a big deal because once I joined a sorority, got a part time job and a bunch of fun friends, it would slip into the background of my existence. Maybe I was going to outgrow it and maybe it didn’t even exist. I went out a lot, made new friends and tried to restore my former self. One day while riding my bike my junior year, I fell over the handle bars and wound up in the emergency room. It was then and there my rheumatologist told me I didn’t have Lupus, but most likely leukemia. I was sent to an oncology center for a bone marrow biopsy from my tail bone. For those of you who aren’t familiar with that test, they drilled a small hole in my tailbone to extract bone marrow. I’m a pretty resilient person, but it was excruciating and I still remember it today. I was on crutches for about a month after. The biopsy came back positive meaning leukemia. In those 24 hours after, I thought to myself, not again. I had put this chapter behind me. The next day, my father’s friend an oncologist, called to tell me the abnormal biopsy was not a cancer cell, but a Gaucher cell. It was then at age 21 that I learned I had type 1 Gauchers Disease.
Having a chronic illness means you are always second guessing yourself. “does this really hurt?” “Should I call the doctor?” and lastly, “is this real?” I would love to be able to tell you I returned to college on crutches with a new lease on life and a determination to finish strong. It didn’t happen that way. I became depressed and didn’t want to see my friends. I felt like even if I had a diagnosis, it didn’t matter as there wasn’t any treatment available. I was not going to be a famous architect or writer. I probably wasn’t going to see 30, get married, have a career and start a family. I gave up caring about most everything. I did finish college and went on to design school. When I felt well, it was great. When I had pain, it was miserable. I always worked. I loved to work. Being an artistic person, I loved every job I ever had. Long hours, building sets, display windows, 20′ Christmas trees and I was happy. I could go for long bouts without any incidence until my body would dictate otherwise. An innocent cold turned into bronchitis and then pneumonia. A back injury that wouldn’t heal or a simple flu that never went away. I would miss work and sometimes up to 4 months at a time. I had the talent to get good jobs, but I just didn’t have the endurance to go the distance. It was in the 80’s when I was out on a medical leave with a very serious bout of pneumonia, when I was told I was eligible for a clinical trial at NIH for Gauchers patients. It was an enzyme replacement using human placenta. They had 40 spots and one of them was mine. I still have trouble explaining this, but when you are that sick, you could have the solution 10′ away from you and you are too tired to get it. That’s how bad I felt. It wasn’t just the pain, but the fatigue as well. I was too weak to get out of bed and the thought of flying across the country once a week for a trial was a mountain in my mind, I could not climb. I was too sick once again to go see my doctor. My father was devastated.
Luckily for me, that treatment was approved and in 1991, I still remember going in for my preliminary labs with my father at my side. He was ecstatic about my upcoming infusion therapy and proudly announced to a room full of people that I was there for my HIV test! He was so excited I was going to get enzyme therapy, he didn’t even think about how embarrassing it was to say such a thing in a room full of strangers. I went for my first infusion with enzyme replacement at Norris Cancer hospital in downtown Los Angeles in 1991. I threw up the whole way home! Anyone who has driven the Harbor freeway in Los Angeles should be impressed by my driving skills! That was the beginning of a new life for me. Within the first year, I could see my body changing. The water weight disappeared, my fatigue cycles were more manageable and I felt like I could return to work.
In 1994 I switched to Cerezyme. I continued on my bi monthly treatment plan and continued to feel better. I still dealt with bone pain, low platelets, fatigue, large spleen and liver, but I knew I was better than I was. Anything seemed better than the previous state I was in.
In 1995 I met my husband Rich and in 1997 we married in Santa Monica, California. Life was moving at a very happy and fulfilling clip. Gauchers was in the background until I got sick…..which seemed to happen a lot. I was like a fly trap for people with illnesses. In 1997 I learned I was pregnant with my first child. I was excited and scared. The day I found out I was pregnant, was the same day I found out that my bone density was low enough to be osteoporotic. I was terrified. Adding 35 pounds of pregnancy weight was not going to be nor delivering a baby. I sought out the help of a perinatologist and to Dr. Pramod Mistry, my current doctor today. With Dr Mistry’s guidance, I was placed on a maximum dose weekly infusion schedule to overcome some of the physical symptoms that continued to plague me. It’s not easy to care for an active toddler when you don’t feel well. As in all things inherently comical about the universe, my son has hyperactivity disorder……which meant most days we were like a Saturday Night Live skit! I went on to have a second child, but it proved to be more difficult than the first and due to a bleeding problem, lost a twin. Nonetheless, I am eternally grateful for the two beautiful and miraculous children I have today.
I spent 21 years on enzyme replacement infusions. First Ceredase, and then Cerezyme. I was and still am appreciative to have received a treatment that at the very least, least could slow down the progress of my disease or even control it. I would love to tell you those were easy years. It’s a huge commitment and anyone that is currently on it understands the battery of phone calls from the specialty pharmacy, the need to sign for the shipment, the need to make sure the pump is working and that the medication is refrigerated. It’s not an hour or two out of the week. Then the day you get infused is about making time in your schedule. In the early days, I commuted alone, but once I had my first child, I packed a diaper bag, bottles, toys and stroller for the trip all the while hoping he would sleep and not fuss. After so many years of over use, my veins became sclerosed and it was harder to find access. My second pregnancy was a complete disaster. After losing one twin, I had bleeding issues, diabetes, early labor and a whole host of complications to boot. Add in a weekly visit for infusions, and I was a mess. Testing my blood four times a day just added to the misery. Later, taking two children to the hospital for my infusions became a hardship. My health was failing and I was exhausted. Accessing a vein became a guessing game…….drink more water, put hot towels on my arms and pray! Eventually I had help arranging a home nurse come to the house. It was so much better. Still, it’s a commitment. Occupying an infant and a three year old for a few hours became the major task. At one point, the nurse was changing diapers and picking my son up from preschool around the corner! My Fridays became a constant source of anxiety and planning. We would laugh at the chaos and absurdity of it all. I was always grateful though because I knew in my heart how lucky I was to be able to get my infusions at home. Just when you think you can’t handle another minute of your own life, you meet someone with a much worse situation and it all falls into perspective.
Somewhere around 2008, there was a shortage of Cerezyme. I have met many people who never knew they had Gauchers Disease and were asymptomatic. This was never my case. I had been battling bone pain and fatigue my whole life along with the other symptoms. I spiraled pretty quickly without enzyme infusions. I had about a two year period where I was too tired to get up in the mornings. I went from a freelance designer to a sleep at home mom. I needed a nap to recover from the act of waking! I needed a nap from getting the kids out the door. Some weeks I slept more than I was awake. I was in pain. The idea of getting a cup of coffee in the kitchen seemed like a long distance to walk. Raising my hand to brush my hair left me breathless. I often describe my fatigue as if I were a balloon losing air. Deflated. It became pretty clear I needed help and somehow at that time, the clinical trials for Cerdelga were starting. Dr. Mistry was running the trial at Yale University and felt I was a great candidate. This time I made every effort to get there. I went through a lot of testing and evaluations……I might’ve been tested on three occasions. I was elated when I found out I was going into the trial. It represented a miraculous lifeline for me to take my life back and rid those feelings of despondency and depression. It meant a new beginning and another chance.
For those of you who have been on infusion therapy, you will know what I’m talking about when I say you develop a psychological dependency on the treatment plan. Maybe it’s the nurse or hospital setting or maybe it’s that IV medication is so visually impactful, that it reinforces the idea that you are getting relief. Whatever the reason may be, it’s a huge leap of faith to switch to an oral medication. The first time I saw the capsule, I had a feeling of disbelief. How can a small capsule help me the way in which the infusions had helped me? It’s probably a natural question. I was skeptical but knew in my heart that if I didn’t try something, I was going to be in trouble. I was missing out on so many things in my life. I’m a designer that has always worked in architecture and design. I live to create beautiful spaces. After my kids were born, I hadn’t been able to work consistently for years. I’ve wanted to finish my masters in architecture since I was a college graduate, but Gauchers seemed to get in the way. Not as an excuse, but rather I was too tired and in too much pain to care.
The trial was very demanding at first. As I got into the routine and the rules, I found taking the oral medication very liberating. No more anxious Fridays! No more worrying about whether the house was clean for my nurse or putting a pot of coffee on. No worrying about accessing my last lucky vein or traveling to an office or hospital. I didn’t realize how draining it was. I started to see myself functioning. In small ways at first and then more noticeable ways. My energy was better. I wasn’t getting sick as often. When I was sick, It didn’t hang on forever. My labs improved. My spleen and liver reduced in size. I went from 40,000 platelets to 200,000, the highest in my life. It was the best decision I ever made. For the first time in my life, after almost 6 years on Cerdelga, my disease is in a controlled state. I’ve never been able to say that.
There’s a certain confidence that comes with feeling better. I’m making plans and am actively participating with my family. I still struggle with bone pain and fatigue. It always seems to hit me in cycles that have no rhyme or reason. Yet for the first time in years, I’m making plans. I am getting out to see my friends more often. I even took on a few kitchen renovations in the last two years. I’m fully engaged with my life instead of a bystander.
I would say that I am doing very well and on the right path. I used to to measure myself against what other people in my life were achieving. I always came up short. I can still sleep entire days away! Most of my friends are runners or work out regularly. This has never been my reality. I think my happiest revelation in the last couple of years was to measure my success by a different standard. I am happier these days because of that. I feel my world is expanding. On those days I don’t feel so great, I’ve learned to fill my time with other things that I love. Every minute is precious and I try to fill those moments with other achievements. I am mindful of how lucky I am to be here today.
I hope some part of my story resonates with those of you who either have Gauchers Disease or are caring for someone with this disease. My journey has been long, but I would not trade my struggle for anything as I feel I can reach out and help others. If you would have told me in 1991 that I would be here today speaking about my journey with Gauchers Disease, I never would have believed it. Nobody ever thought I would live this long. I am deeply indebted to Dr. Mistry for helping me these last 17 years navigate to a better quality of life for myself and my family. My father passed in 1993 and never had the chance to see me stabilized. I somehow feel he too plays a role in my story and would be so happy and amazed at how far I’ve come.
-Tamara Isaacs Ciocci; Los Angeles, CA