I am a 34-year-old inspirational speaker, former investor relations consultant, girlfriend, sister, daughter and overall wellness enthusiast. When I was 31 years old, I was diagnosed with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
MNGIE is a condition that affects several parts of the body, particularly the digestive system and nervous system. The gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia).
For 15 years, and prior to being diagnosed, I suffered from debilitating and unexplained physical symptoms. Most common were crippling stomach pains onset by food. If I ate anything, with the exception of chicken noodle soup, I was at risk of severe stomach pains. These pains would force me to stop whatever I was doing and go home, causing me to feel very isolated from my normal life. Often it would take days for these episodes to pass.
Because of how rare MNGIE is, doctors were unable to pinpoint the root of my problem. I was misdiagnosed and searching for answers for over a decade. Doctors tested me for Crohn’s disease, colitis, irritable bowel syndrome and food sensitives. Many people treated me as though I had an eating disorder or that stress and anxiety were causing my stomach pain, which was extremely hurtful and couldn’t have been further from the truth. I love food but – for some reason – it didn’t love me back. My situation was extremely difficult because no one understood why I couldn’t eat.
Somehow, despite the frequent episodes of stomach flare-ups, I was able to maintain a relatively normal life. I started my own consulting business, had a ton of close relationships, traveled and exercised. I ran several charity events and was very engaged with my community. However, it was becoming apparent that things were getting worse. My pain was becoming more frequent and more severe. I was spending several days a week in bed in distress with little to no answers as to why this was happening to me.
In November 2016, after searching for answers for over a decade, I was diagnosed with MNGIE, an extremely rare and potentially fatal disease that affects the digestive and nervous system. Dr. Mark Tarnopolsky at the McMaster Hospital in Hamilton, Ontario, whose focus is on neuromuscular neurometabolic diseases/rehabilitation and mitochondrial disease/dysfunction, was the doctor who diagnosed me. To be diagnosed, a fresh blood sample was taken to measure thymidine levels and thymidine phosphorylase activity. I also received a genetic test to show that I had MNGIE.
When I tested positive for MNGIE, I was in shock. I remember driving home from the hospital in the back of my parents’ car – not knowing what it actually meant but knowing I just received some very life-changing news. On the one hand, it was a relief to finally have an answer but on the other was the fear of what this actually meant. Where was I going to find answers? As you can imagine, the diagnosis left me feeling lost, afraid and scrambling for answers. While it was good to finally have an answer to my medical issues – it could not have been a more terrifying diagnosis.
What made matters even worse was the fact that we couldn’t find a team in Toronto that knew much about the disease. So, while the diagnosis was like an additional piece of the puzzle – I was still left with several missing parts of the puzzle to figure out. How do I fight this? When can we start? How long will it take? When will I be better? Let’s get this done and out of the way! Boy, was I in for a surprise when I learned about the treatment.
There are probably fewer than a thousand known cases of MNGIE worldwide and it can only be treated via chemotherapy, a stem cell transplant and/or a liver transplant. Each is an extremely risky procedure with very little data due to the limited number of people with the disease.
Given I was completely naïve to the treatment, my doctor set up a video call with a doctor at the Ottawa Hospital. I went into the call like I would any investor call. Prepped with questions, confident and ready to get my answers. I was ready to establish my game plan of how I was going to get MNGIE out of my system.
Quickly this call became very real and words like chemo, stem cell transplant, donor, 10/10 match were being used. I also learned that if I didn’t treat the disease, it would eventually be fatal. I was not prepared for this. But being the stubborn and determined lady that I am, once the doctor told me all I needed was a 10/10 match, it was like I had tunnel vision. Nothing else mattered. I must find a donor.
I was told, if all went well it would take about a year to recover. I was informed of all the risks – but come on – that wouldn’t happen to me. I’d be fine. I would put my career on hold for a year, rally up my support group, and put my boxing gloves and come out stronger in the end. No big deal. Boy, was I wrong.
On August 31st, 2017, I had completed one week of extensive chemotherapy and became a recipient of an allogeneic stem cell transplant. My life changed forever.
I would really like to be able to say that my transplant was some life-enhancing, soul-awakening experience. However, for me, it has been quite the opposite. While I am eternally grateful I had a 10/10 donor and a remarkable team at the Princess Margaret Hospital, who have been fighting for my life for two years, it does not change the trauma I have endured.
About a year after my transplant was when things became very difficult for me. It started off with a vicious flare-up of GVHD of the skin and gut, which I continue to battle. As a result, I am on immune-suppressants and heavy doses of steroids. The immune-suppressants make it extremely hard to live a normal life as I am in constant fear of germs in the outside world. In addition, the long-term steroid use has caused muscular myopathy and osteoporosis. I currently have several fractures in my spine due to poor bone density.
On the upside, my MNGIE symptoms have subsided and I can eat. Food is delicious and I have been enjoying every bite. However, this does not make up for all of the post-transplant complications I deal with every day.
I am hopeful things will get better and I am hopeful we will find a way to control the painful GVHD flare-ups. But I am uncertain if life will ever fully return to ‘my normal.’ Will I ever ski again? Will I recover mentally from all the trauma? Will I be able to return to work? Will I be well enough to be a mom? These are a few major uncertainties that I deal with on the daily as a result of my transplant.
Most days I remain hopeful that my life will become more stable. In the meantime, I stay busy with yoga, meditation, painting and seeing friends and family. I am also very busy with medical obligations. I have many appointments throughout the week which take up most of my time.
I keep my eyes open for career opportunities that I would like to pursue when/if I am able. Currently, pain management and the use of CBD are of interest to me and I would like to get involved and more informed in this area if/when I can return to work.
I am also very happy to use my experience in the hope that it will help others with their diagnosis and the rollercoaster that it comes with. I often speak publicly at various forums, which I think will have an impact on others in a positive way. In addition to this, I am a participant in the MNGIE natural history study with hopes that additional information about MNGIE will help others in the future.
