My Story

 

 

At the age of 28 I had an enriched life. I was surrounded by an amazing group of friends and a

loving family. It was filled with countless opportunities, enjoyment and a future that had an

unlimited possibility. It was an exciting time: I had recently embarked on a new career making my

passion for fitness, sport and wellness into something I always dreamed of by becoming the 

Owner and Founder of a personal training, coaching and fitness consulting firm called Personal FIT.

 

I was healthy, happy and doing all the things I loved. My life as I knew it was shaping up to be

everything I hoped and dreamed of. During that time I was preparing for a 70.3 Ironman Triathlon

so much of my time was filled with training for this event. When I started to experience symptoms

like muscle cramping, spasms and the occasional rigidity, I figured it was all par for the

course considering my training regimen. This wasn't my first race so I was comfortable with the

level of training and the toll it took on my body. I wasn't worried; I wasn't concerned. I assumed the

explanation for these somewhat odd (although somewhat typical) symptoms was an easy one.

Eventually we sought medical advice, mostly because the discomfort associated with the symptoms

was an irritation more than a concern. At that time I didn't realize how integral this moment in my

life would be. 

 

After my first visit with a specialist at McMaster University Medical Centre in Hamilton I was soon

reassured that I had a condition called Hyponatremia, thinking the level of sodium (electrolyte) in

my blood was lower due to the training and exercise. What a relief, I thought. But after the

diagnosis and days to come I came to a realization: my symptoms were often not related to exercise.

It triggered a memory for me that I indeed had experienced my first symptoms when I was in my

early '20s and now years later they were back. That summer I was at a friend's cottage. We were

out waterskiing, as you do, and when it was my turn I was in the water waiting to be pulled up and

my legs started to seize in a way they hadn't really before. It escalated to the point where I had

to be pulled out of the water. This time it felt different and for the first time I was fearful. I was

taken to the Emergency room by ambulance after enduring 8 hours of muscle cramping, spasms

and rigidity in my legs. The muscles were continously tightening and not relaxing. It felt as though

a tendon could rupture or bone could even break. I was in excruciating pain and was given high

doses of sedation drugs, moriphine and kept overnight for observation. That morning I was quickly

told by a nurse that I should get tested for MS. 

 

This episode initiated a more serious investigation into what was really wrong. Shortly after, my

symptoms progressed with more severe stiffening and longer episodes of painful spasms, muscle

contractions, muscle twitches and severe rigidity.  That is when I decided to seek the advice from a

second doctor at McMaster. After extensive testing they discovered abnormalities with my

EMG (electromyogram, which detects abnormal muscle electrical activity) results. That along with 

the symptoms I was experiencing, I was diagnosed and treated for Neuromyotonia. Shortly after

I began a drug treatment therapy for it, but wasn't responding well to the treatments.

As the disease progressed so did our concern and worry. I no longer was experiencing only symptoms in my legs. Muscles began cramping in my whole body and eventually involving the muscles of the respiratory system where I felt like I couldn't breathe. The symptoms attacks were oddly triggered by emotion, stress, loud noises and being startled, which we would later find out were classic symptoms of Stiff Person Syndrome (SPS).  I began being hospitalized frequently each month with high doses of anaesthetic drugs like versed and propofol to help control the attacks. My once carefree life became a daily struggle of unpredicability, isolation and fear. My life was now dictated by a disease that was rapidly progressing.  After more investigation, countless procedures and tests my doctor, along with a doctor in the UK, determined that I indeed had a disease called Stiff Person Syndrome (SPS). They discovered the presence of antibodies to glutamic acid decarboxlase or GAD that is used to provide evidence of autoimmune disease activity. This test came back positive and along with the abnormal EMG and physical symptoms this led to my diagnosis. I then began being treated for SPS with more rigorous treatments, such as intravenous immunoglobulin (IVIg) and plasmapheresis (plasma exchange), a method where two needles are put in each arm to clean out the blood and extract the antibodies. This treatment helped control the disease slightly but was not going to prove to be effective long term. SPS is a devastating progressive disease with no successful cure. The treatments proved to be ineffective and the disease progressed rapidly and now became life-threatening. 

 

In 2010 as the disease worsened so did my quality of life. It was then that my doctor told me that I no longer could drive and my driver's license was taken away resulting in me having to give up something I worked so hard for - my own business. It was at that time I had to stop working and my hope for a positive future was continuing to diminish. The disease began to chip away at every aspect of my being - physically, mentally and emotionally. What kind of future was I going to have? How was I going to manage this disease, a rare disease that was progressing, a disease that had no cure? I felt lost, hopeless, defeated. That is, until one fateful day a woman named Jean came into my life.

 

Jean was someone I had heard about, but it seemed more myth than fact for me at that point. As the story went, I had heard she had been suffering from the same disease and underwent a procedure that I was unfamilar with - a stem cell transplant.  It was hard to believe that there was someone else not only with SPS, but someone that had been treated at McMaster by my doctor and underwent a treatment that could potentially change the course of her life. The prevelance of SPS is unbelievably low - 1 in a million suffer from it. The likelihood of us meeting was not favourable because of confidentiality and privacy issues. I learned to accept that I sadly may never get a chance to meet her but I knew that I wasn't going to give up hope. It was the summer of 2010 that that fateful connection was made. Jean and her husband were, in fact, friends with my sister- in-law's parents in Barrie, Ontario. It was like divine intervention - a miracle.  Jean had undergone a stem cell transplant at the Ottawa Hospital. Before having her transplant in Ottawa, she searched for treatment in the United States and went to the Fred Hutchinson Cancer Research Centre in Seattle Washington. To Jean's surprise the head of the clinic was a former classmate of her husband's in medical school. The doctor advised Jean to seek treatment in Ottawa as they were doing groundbreaking work and stem cell transplants that could not be done in Seattle. Jean contacted Dr Harry Atkins, a blood and bone marrow transplant specialist who had been working on stem cell transplants for people suffering from Multiple Sclerosis. He was willing to see if the treatment could apply to SPS, and because Jean's condition was so devastating, he accepted her as a first clinical trial. 

 

It was absolutely incredible to meet someone else that was suffering from the same rare disease. It is hard to express in words what it feels like to be in the presence of someone that understands exactly what you are going through, what you have been through - someone that can relate on so many levels to the isolation, the struggles and fears. We shared something in common that was so unique and although we had never met before we instantly connected. To see her doing so well 14 months post transplant was a miracle in my eyes. It was remarkable.  A friendship quickly developed and a special bond that began the process that would forever change my life. For the first time I had hope.

 

Shortly after, I was introduced to Dr Atkins in December 2010. Dr Atkins was interested in having another candidate to test the theory of his groundbreaking treatment and research in his clinical trial. I would be the second candidate in the world to have a stem cell transplant for SPS. I will never forget that moment in Dr Atkins office: I was with my parents and twin sister and as we sat huddled side-by-side I remember being in awe of him. At first, his brilliance and then his extraordinary way in how he showed such compassion for my situation. It was immediately evident that he was different; someone extremely special. We sat and listened to the play-by-play on what the procedure would entail and no harsh detail was left unvoiced. Despite my initial fears I knew, at that moment, that I was being offered a gift - the gift of life.

 

In April 2011, I started my treatment at the Ottawa hospital for an Autologous Stem Cell Transplant where I would be able to harvest and use my own stem cells as opposed to a donor's. Ottawa would now become our new home for the next five months and I would be admitted to the hospital to begin the process of the transplant.  With all the uncertainties and fears that came with living with SPS, there was one thing that remained constant and clear - I was always surrounded by the most loving, supportive and caring group of people; my amazing family, friends and all of those that knew me were my pillars of strength. This potential transplant wasn't just going to change the fate of my future but would affect all of those who loved and cared for me so dearly.  

 

Within the first few moments of being admitted I was immediately embraced by the entire BMT team and I knew I would be in the best care imaginable - instantly comforted and put at ease by their innate kindness and compassion. I would quickly develop special bonds and relationships that will stay with me forever. They became like a second family to me. My treatment regime was intense: rounds of aggressive chemotherapy, drug therapy treatments and injections to encourage stem cell growth in my bone marrow all with the purpose of destroying my existing immune system.  After 11 days, my stem cells were collected and purified at the Canadian Blood Services Laboratory in Ottawa then, weeks later I was given even more progressive chemotherapy with additional drug therapy treatments to abolish my immune system entirely. Once this was accomplished, the purified stem cells would be transplanted back into my body and the process of rebooting my immune system would begin. Several weeks and months to follow would be a long road to recovery but each day would be one step closer to the start of a new life. May 24th, 2011 will resonate with me forever: this would mark the anniversary of the remarkable day I received my stem cell transplant; the first day of the rest of my life.  

 

Two years later I'm in remission and symptom free - truly a miracle. The course of my future life has been forever changed and in it, a new hope. This promise has evolved into a deep passion to give back; to become an advocate for the miracle that is stem cell research as well as providing support for those unnamed sufferers who are facing the immeasurable challenges of a relentless disease.

 

Words can't begin to express the depth of my gratitude and appreciation for everyone that has been on this journey with me: my family, friends and supporters; the nurses and staff at McMaster, and the Juravinski Hospital and Dr Pursley.

 

An exceptional thank you goes to Dr Atkins and the outstanding team of doctors, nurses and staff at the Ottawa Hospital.  

 

I truly wouldn't be where I am today if it weren't for all of you. My life has been profoundly enriched and touched by each and everyone of you. Thank you, so deeply from the bottom of my heart.

 

Before the transplant I had no hope for a future. Now I have a future of hope. 

 

Tina

 

 

 

 

 

 

 

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What is Stiff Person Syndrome?