Amyloidosis: Our family’s curse
Amyloidosis: Our family’s curse
Hi! My name is Amanda Wang (nee, Boyd). I am 38 years old; originally from a very small town in Manitoba, Canada; have been married for 7 years; a proud step-mom to a wonderful 18 year old man; and currently living in Toronto, Ontario, Canada; and I have Amyloidosis.
My first exposure to Amyloidosis came at a very early age. As I grew up, I was aware that several family members on my mom’s side either had suffered, or were suffering, from the same disease. This included my mom, my grandfather ‘Papa, Papa’s father, Papa’s brother, and my mom’s oldest brother. My great uncle passed away when I was quite young. My uncle and Papa also passed away while I was still in school. I have since become aware of five more family members who have been diagnosed with Familial Amyloidosis.
I hated watching my family members suffer with this disease. As much as I worried for my family, I wasn’t concerned for myself. I really wasn’t. I knew that every child has a 50% chance of inheriting, but I had convinced myself that it wouldn’t happen to me. My reasoning was two-fold. Firstly, I didn’t look anything like my grandfather, mother, or uncle. That’s right, I was basing my theory on physique – you can roll your eyes; it’s okay. They were all dark haired, dark eyed and olive complexioned. They resembled what is known as ‘Black Irish’. I, on the other hand, have red hair, blue eyes and skin that burns if I even THINK about the sun. Outwardly, I didn’t have anything in common with them. That’s the tricky thing about genetics though. It is entirely, completely, infuriatingly, RANDOM. Secondly, and perhaps even more selfishly, I believed that because I already had so many health issues to deal with (growth hormone injections, daily medications, surgeries, infertility), that I had more than my fair share. I felt very strongly that God/the universe would not burden me with any more medical hardships. SNORT! Life is not fair.
I was diagnosed with Familial Amyloidosis in 2007. I was not experiencing any outward symptoms as of yet and it was discovered quite by coincidence (I like to think of it as Divine intervention, if you believe in that sort of thing). I was in the hospital to receive a shot of cortisol to help manage a nasty flu. When the nurse took my blood pressure she was surprised to see that it was through the roof. My blood pressure (bp) was normally very low. After administering my shot, the attending doctor advised that I monitor my bp and if it didn’t come down in the next three days I should see my family doctor. I wasn’t concerned. Other than having the flu, I felt fine. On the ride home with my mom, I even joked about it. I said, “watch, it’ll turn out I have Amyloidosis.” Mom didn’t find my joke very funny. Soon, neither would I. My bp didn’t go down. This sent off warning signals to my family doctor, who was familiar with my family’s history of kidney disease/amyloidosis. He ordered several tests to measure protein and creatinine and found these levels were all abnormally high. He was of the opinion at that point that, ‘if it walks like a duck, and talks like a duck’…. it’s probably Amyloidosis. He immediately referred me to the renal specialist that had looked after our family’s disease. When I heard that my doctor wanted me to see the specialist, my gut twisted in a knot and a heavy curtain of dread fell over me. I couldn’t relax. I kept calling my mother and basically talking myself into believing that it would all come to not. Deep in my heart, though, I knew.
The specialist concurred that it looked very much like Amyloidosis and sent me to a geneticist who performed a DNA test. After a few months I went back to the geneticist and she confirmed the diagnosis once and for all. She stated, ”you have the gene for Familial Nephropathic Systemic Amyloidosis caused by apolipoprotein AI variant Arg26.” Well… isn’t that just CRAP-TACULAR. Yes, I had known that I have Amyloidosis for months prior to that meeting. But nothing prepares you for hearing a final diagnosis. Up to that point, before the genetic results came back, I could delude myself into believing it was all just a big mistake. I’m being punked; the numbers aren’t accurate; whatever helped me feel better. No more. Now I had to face reality, and the reality was that I had Amyloidosis. By the way, my bp came back down to normal all on its own after I was diagnosed. I’m telling ya, Divine intervention.
I went through a lot of emotions when I found out I had inherited my family’s disease. It’s not fair. I can’t take being sick anymore. I’m angry at God. How could He DO this to me???! I need God. I’m scared out of my mind! Having watched Amyloidosis kill Papa and almost kill my mom, I was deathly afraid of what the next ten to twenty years would look like. It was even more confusing for me because I was not experiencing any physical symptoms. I didn’t feel sick, but I knew I WAS sick. It was like I had a ticking time bomb inside my body and I didn’t know when it was going to go off and, when it did, how bad the damage would be.
Thankfully, all of these negative thoughts and emotions didn’t last. With help from mental health professionals, proper medication and amazing support from my friends and family, I was able to pull myself together. I realized that I had to stop dwelling on what was, and start thinking about what I was going to DO about it. My mom had already been successfully transplanted in 2003, so I knew that Familial Amyloidosis doesn’t have to be a death sentence. The thought of having a liver transplant scared the ever-living daylights out of me, but the alternative scared me more.
When the time came for me to decide what to do, I didn’t even think twice. My specialist was telling me my options and barely even had time to say the word ‘transplant’ before I blurted, “Yup! Where do I sign?”
From there I went through a series of appointments with other specialists and was sent to London, ON that fall to determine if I was a candidate for transplantation. I was a very good candidate for transplant; I was young, in relatively good health and had an excellent support system. The only strike I had against me was my blood type; O-. This is the rarest blood type and, combined with the fact that I wasn’t as sick as other people waiting on the list, I was told I may have to wait for up to five years.
FIVE years. At the time that seemed like an eternity.
FIVE years. At the time that seemed like an eternity. And all I could do …was wait. To prepare for my wait I bought a cell phone and kept it with me 24/7. For the first few weeks I found myself constantly checking my phone and every time it rang my heart would race. I even developed phantom ring (where you swear you can feel your phone vibrate or hear it ring, even when it’s not). I packed a duffle bag and set it right by the door… and waited. And waited, and waited…. and waited some more.
Well, after a while I started taking clothes out of the duffle bag and forgot to repack them. I stopped jumping every time my phone rang and eventually I did something I never thought I’d ever be able to do… I kind of forgot that I was even waiting for a transplant. It wasn’t as if I completely forgot. If someone asked me about it I’d say, “oh yes, I’m still waiting,” but it wasn’t on my mind every day. I had relaxed enough to start living my life again.
Fast forward to Friday, May 7th, 2010. It was 12:30 a.m. I was comfy in bed, curled up with my cat and the best of Sherlock Holmes. I’ve often wondered why I was still awake, especially since I was planning on being back at work in less than eight hours. I just seemed to be restless and couldn’t unwind. Out of the quiet darkness, the phone rang. I prayed that there hadn’t been some terrible event as I reached for the phone in the darkness of my kitchen.
“Hello, is Amanda there?” The voice on the other end of the line was not familiar, but she was looking for me.
“Speaking,” I replied, a cold lump growing in my stomach.
“Amanda, hi! My name is xxx and I am a Transplant Coordinator with London Health Sciences Centre in London, Ontario. I’m calling to let you know that a liver has come available that we feel would be a really good match for you.”
Now, I have heard people talk about out-of-body experiences, but had never experienced it myself until that night. It was like my inner world (all my senses, my emotions, my physicality) had come to an immediate and abrupt halt. My mind’s ability was suddenly limited to repeating “liver… transplant” over and over again.
Meanwhile, the world was still going on around me and the transplant coordinator was still talking to me on the other end of the phone. Somehow, my brain registered that I had been asked a question and I snapped back from wherever it was I had been.
“Oh my God,” I mechanically grasped the nearest kitchen chair and sank into it. When I realized I wasn’t dreaming and this was really happening I could feel my adrenaline start to pump. The transplant coordinator proceeded to explain the next steps to me. She wanted to give me her phone number. In panicked excitement, I ran into the other room where my desk was. I didn’t bother turning a light on. That would make too much sense in this emergency; there wasn’t time for that kind of logical nonsense. I fumbled in the dark and grabbed the closest writing instrument, It was a marker. I couldn’t find any paper immediately, so I wrote the coordinator’s number….. on my kitchen counter.
As my dad and I drove to the nearest airport, my adrenaline was pumping at full capacity and I was buzzing with excitement and nerves. I had been waiting for this night for two and a half years, and it was finally here! I had no idea what to expect from this experience, but I wasn’t scared – yet. My mind was on autopilot, going through the motions and doing what had to be done. In fact, I was most worried about the fact that – as my job was a reporter for the local newspaper – I had an interview with the superintendent of the school division first thing in the morning. “You have to tell Mom to call and let them know I won’t be there…. it’s really important…. she needs to call before 9:00 a.m.” Dad just kept reassuring me that Mom would take care of it. He was probably thinking, ‘You’re about to have a liver transplant, and this is what you’re worried about? But I didn’t have time to think about the gravity of the situation or get worked up; everything was happening so fast.
At 3:45 a.m. the Air Ambulance arrived and we arrived in London at 8:45 a.m. We took a cab to the hospital where I was greeted with, “Where have you been?! They’re waiting for you!” I was immediately sent upstairs to the transplant ward where I became the centre of a frenzy of activity. Within minutes I had changed; was introduced to my surgeon, Doctor Hernandez; several nurses and other doctors asked me a million questions; and I was prepped for surgery. While I was being wheeled down to the O.R. I was starting to think about what was going to happen VERY SHORTLY. THAT is when I got nervous – and not the ‘excited’ kind of nervous either. This was a – ‘Holy smokes! They are going to take my liver out of me!’ – kind of nervous. While my dad and I waited just outside the final set of doors in the O.R. waiting room a friendly male nurse struck up a conversation with Dad about the upcoming Stanley Cup Playoffs. As I lay on the stretcher, my hair in a blue net, I was slowly becoming unglued. ‘What if they start operating before I’m completely out? What if something goes wrong? What if, what if….? What is taking them so long?’ I thought irrationally; it had probably only been about five minutes, but every second felt like an eternity. Finally I lost my patience.
“Okay!” I said as I clapped my hands together. “Let’s get ’er done.”
The nurse smiled and said something reassuring. I said goodbye to my dad, and was wheeled into the O.R.
My surgery took about six hours and went well. I awoke Friday night in ICU alert and without any pain. Physiotherapy had me sitting up in bed Saturday and by Sunday they wanted me up and walking. My recovery at the hospital took a LONG time, due to several complications that arose after surgery. I contracted TTP and, not liking the current series of events, my kidneys decided to go on strike. My TTP was treated with plasmapheresis. The process took about four hours, during which I usually slept. There was only one day that I felt I had pins and needles running up and down my right arm that I totally lost it and they had to tie my hands down and give me a tranquilizer. Several of my complications had conflicting treatments so that in treating one, others were kept from improving. This made moving forward with my recovery very difficult and frustrating for everyone involved. While I was concerned about these complications, I had faith in the doctors who were treating me. I was seen each day by several teams of specialists. It takes a special type of person to do what the doctors and nurses of MOTS do every day, and I will forever be in awe of the miracles they perform.
I thought of my donor A LOT. I wasn’t told much about him/her. All I know is that they were ‘very young’. My heart breaks that anyone would have to die before their time, but knowing that it was most likely a small child really upset me. I know that my donor was dead, whether I accepted their liver or not, but it still left me raw. I also had to grapple with feelings of unworthiness. Before my transplant, I wasn’t that sick. I mean, I had been diagnosed with a degenerative disease, but it wasn’t like I was struggling day to day with my health. I was still able to work, play and do all the things I wanted to do. I wasn’t that sick. That left me feeling that, well, maybe there was someone else who needed this liver more! I was reassured that if there was ANYONE who was sicker and could have been a match, they WOULD have received the liver. There wasn’t, so…. I was it. Shortly after my transplant, sitting up in my hospital bed, I looked out the window. I saw the beautiful blue hues of a warm spring afternoon, the vivid green of the trees. I imagined the soft breeze I knew would be whispering through those trees. I thought of my donor and their family. And I cried.
Since then, the last 11 years has been a rollercoaster; lots of ups, and lots of downs. For the most part, though, I am happy and healthy. I want this to be an encouragement to any one else living with Amyloidosis. It does not have to be a life sentence. You can live a full, happy life. Take your life into your own hands, pursue the treatments, live a healthy lifestyle, and be thankful for every day we have on this beautiful earth. If I can do it; so can you.
Amyloidosis: Our family’s curse – Amanda – CANADA