My Battle with AL amyloidosis

I live in Toronto, Ontario and have AL amyloidosis with multiple organ involvement.

I am currently in a clinical trial and I’m happy to say that I’m doing well. I am one of only 260 people worldwide receiving this treatment; which I believe has given me my life back. I want my story to bring some much needed awareness to this horrible disease, and hope to those who are newly diagnosed.

My symptoms presented themselves over time and in strange ways. I’m not even really sure when it all started. It’s a slow, progressing disease and it can take years before any symptoms show. I began noticing symptoms in 2014, tingling in my hands, changes in my migraines (they became more frequent), and a general feeling of fatigue and being unwell. I had recurrent UTI’s and a two week long bout of what they thought was stomach flu.

I went to see my doctor but my blood work came back normal. The only thing they found was during an ultrasound, when they noted that my liver was enlarged. After more blood work for liver related problems they found the results came back normal. I made some lifestyle changes and went on a new medication for my migraines. My doctor tried to convince me that my symptoms were caused by anxiety, and that I should try going on anti-depressants. I felt like I was going crazy; that no one believed that I was sick – but I knew that something was wrong.

During the two years between these strange symptoms presenting themselves and my 

diagnosis, I was sick on and off. I was fatigued but thought I was just tired from a busy life. I had a young son and was trying for another baby. The latter proved to be very difficult and my doctor couldn’t figure out why at the time. I had four miscarriages before I finally managed to get pregnant and give birth to healthy baby boy.

My pregnancy was pretty uneventful. The only thing that showed up during my pregnancy was protein in my urine, and because there was no sign of infection they said it was “just one of those things your body does when you’re pregnant”. I know now that it was a sign of my kidneys beginning to fail.

When my son was about eight months old, I began to feel sick again and started to have swelling in my legs and feet. I went to the doctor. I continued to go back, pressing for answers. They were convinced however, that there wasn’t anything seriously wrong with me. I was not.

I’m certain I may have seemed a bit crazy at this point. I felt out of control, scared and confused. I knew something was seriously wrong but was getting no answers. I went to my doctor with a giant list of symptoms and I asked for more blood work to be done. Finally things came back with extremely abnormal results. At this point I was sent to a hematologist. There was no more denying that there wasn’t something seriously wrong. I was extremely sick. I was retaining so much fluid in my abdomen that I looked about seven months pregnant. My legs and feet were so swollen that I couldn’t walk far without extreme discomfort. Because of the accumulation of fluid around my heart placing additional pressure on my lungs, I had to sleep sitting up to breathe properly.

I was finally admitted to the hospital, and a great team of specialists (including the hematologist) took over my care. They were still unsure as to what was going on, and I had to undergo multiple tests. X-rays, MRIs, ultrasounds, a kidney biopsy, a bone marrow biopsy, and… ridiculous amounts of blood work! As these specialists ruled one thing after another out, a more serious diagnosis seemed to be looming in my future.

I remember the first time I heard one of the doctors say amyloidosis and I thought, “ what is that?” They said “it’s probably not this, we just need to rule it out”. But that was it. There I was; finally with a diagnosis. On the one hand relieved that we’d figured it out and could move forward with treatment, but on the other hand, what a frightening diagnosis this was.

I went on the internet…what a mistake! Very few stories had a happy ending. Many people did not live past a year after being diagnosed. It seemed I needed to make peace with this possibility. This meant that I had to face death and consider very seriously that this was the start of the end. I wrote letters to my husband, parents and children saying goodbye. I made scrapbooks for my boys so that they would have something tangible, just from me. I recorded myself singing their favorite lullabies. I was prepared to fight, but needed to have these things in place just in case I didn’t win.

Now it seems like the universe was on my side for this one. My hematologist told me about a worldwide clinical trial taking place at Princess Margaret Cancer Centre. She recommended I try it as it was what she considered to be my best line of treatment with the greatest possibility of success. The timing was perfect with my diagnosis. It was actually a very difficult decision to make, as it not only meant being a guinea pig for a mystery drug, but also more testing and waiting to begin chemo in order to see if I would even be accepted into the study group. My heart was also involved, the walls of my heart were thickening due to amyloid deposits. This increased the threat of the disease, but also made me eligible for the clinical trial. The whole time I waited for the results I felt myself getting sicker and sicker. I went back and forth and finally decided to do the study. I am so thankful that I did!

It’s been a very long road with many complications along the way. Not long after starting the treatment, I was admitted to the hospital with low sodium. They discovered this at one of my routine, pre-treatment, blood work analysis visits. I stayed a few days until everything was regulated. It was during this hospital stay that I learned the treatment and the clinical trial were working! My free light chains had dropped dramatically.

I continued with treatments and a positive outlook. A few months later I started feeling ill with stomach cramps. It was extremely painful and I couldn’t eat, so I went back to the hospital again. I was admitted to ICU with a partial bowel obstruction, as they debated whether or not I needed surgery to clear the blockage. They did not want to operate on me because I was too high risk. There was talk of sending me to Toronto to a specialist there. For some reason my vitals started to stabilize a bit and they decided to keep me where I was and take a “watch and see approach”. I was in the hospital for two weeks. I was on morphine for the pain, and they stuck a tube down my throat which attached to a vacuum, in an attempt to vacuum out the gas which was blocked and causing my stomach to be so dissented and cramped. I was diagnosed with a partial bowel obstruction and “Ogilvie Syndrome”, meaning that my bowels for some reason were “stunned” and not functioning at all.

The head surgeon had a strange idea that he thought might help. They put me on a table that elevated and tipped, and two people held me down. He proceeded to push on my abdomen starting at the top and followed the path that my intestines took in an attempt to push the blockage through. It seemed to have done the trick! During this visit I didn’t physically eat anything for 5 days and was hooked up to an IV which gave me all my necessary nutrients. This was followed by a fluid diet until I gradually built up my strength and ability to digest again.

Back home and back to treatment. Things were moving along nicely and my levels were slowly starting to improve. Then, a few months later, an Umbilical Hernia I had developed while I was pregnant with my second child became “incarcerated” and it looked like I needed emergency surgery to have this repaired. They sedated me in the hospital and the ER doctor attempted to push it back in. I was still considered “high risk” but it looked like they had no choice. I needed the surgery and I needed it quickly to save my life. They didn’t know what I would wake up to, thinking they may have to take part of my bowel while they were in there; warning me I may wake up with a colostomy bag. Thankfully the universe was on my side (again) and I had a great surgeon. I came out of the surgery with flying colors and no complications!

They stopped my chemo treatment for a few weeks to give me time to recover. It was after this surgery that things really started to improve for me. Because of my fluid retention I had been getting biweekly paracentesis done. This is a procedure where they drain the fluid out of your abdomen. Most times I would lose 11 pounds. October 2016 was my last one and I haven’t had to have this done since.

I’m slowly gaining back my strength and energy. My levels and key markers all continue to improve. My heart has shown a decrease in thickness, my BNP (a marker of heart failure) has dropped to a normal level, my liver continues to shrink and there is less protein in my urine. The trial drug seems to be doing its job!

There’s still been damage done from the amyloid build up; my liver and spleen are still enlarged, my kidney function is still impaired , and my heart still shows signs of amyloid deposits; but it’s reversing. I’m slowly but surely shedding these deposits. I am so thankful for this research! I have no idea what my future holds, but right now I am so grateful to be here, and to be healing.

UPDATE:  August, 2019

It has been just over a year since I finished my last chemotherapy treatment. I am doing well and am so grateful for my healing!

At my sickest, my heart, kidneys, and liver were all failing. I was so full of fluid that I looked 7 months pregnant and had a hard time even walking up a flight of stairs. I got bi-weekly paracentesis to drain the fluid off my abdomen. I had to sleep sitting up in order to breathe comfortably. I was unable to be a main caregiver to my children for over a year of their lives.

After two years of CyborD and being part of the NEOD001 trial, I am doing great! I am keeping up with my kids and making up for lost time. I have since finished online courses and will be starting a new career in the fall.

My hematologist is pleased with my recovery and expects that it will be a long time before I need additional treatment. My heart is beating strong! My BNP, which was once elevated, is now within a normal range. My echocardiograms and ECG’s are almost normal. One issue that remains is a small pocket of fluid around my heart, and an occasional irregular, fast, heartbeat.

My liver, which was once so enlarged and hardened that it was visible under my ribcage, has shrunk down to normal size and all my liver function tests are normal.  My kidney function continues to slowly improve. I went from a GFR of 17 to a GFR of 40. I recently went off all diuretics and monitor my damaged kidneys with diet and lifestyle changes.

It feels like I have been given a second chance and I am so grateful for my healing. Fingers crossed this disease stays hidden for a very long time!