Tove Jensen-Munroe

Diagnosed with AL amyloidosis in January 2017.

Heart and autonomic nervous system damage.

Three months to diagnosis.

Treatment was CyBorD and stem cell transplant.

My message for clinicians: 

• Rare does not mean never.   

• A differential diagnosis that considers rare diseases is crucial. 

• Sometimes Zebras will visit you.  

• We need multi-disciplinary supportive care sometimes for a long time after chemotherapy.

My message for other patients and their carers: If you have AL amyloidosis you have to educate yourself and prepare to suffer.  You also have to change habits that make your symptoms worse.  However, with patience and a willingness to endure uncertainty you can get through this.  There are lots of amazing survivor stories out there.  Read them for hope.      

My name is Tove and I was diagnosed with AL amyloidosis the day after my 51st birthday in 2016.  I was living temporarily in Palmerston North attending Massey University studying psychology.  My husband and I were life-long athletes; riding bikes, swimming, skiing, climbing, and walking everyday with our two Blue Heelers.  The first symptoms that I noticed were that I was getting slower and slower on bike rides and feeling winded and dizzy when I ran up flights of stairs.  I thought it was the stress of being a middle-aged university student.

The first symptom that I noticed was oedema caused by heart failure. In July of 2016 when I was attending a Zen meditation retreat I noticed swelling in my ankles.  This was something I had never experienced before.  I thought it was from so much sitting in meditation and sitting at home to study.  I assumed I wasn’t exercising enough.  So I pushed myself even harder.  Four months later when I finished my final assignment for the last term of a graduate diploma I made an appointment at a health clinic.  I had felt my heart fluttering in my chest, I was extremely fatigued, and the ankle swelling was not going away. 

At the clinic I had an ECG that was normal except for showing my heart was low-voltage.  (This was the first missed clue – an amyloid heart will often show up as low-voltage on an ECG.)  The nurse drew blood and then the doctor sent me home saying it was likely just stress.  I received a call an hour later as I was out walking my dog and trying to run up hills to exercise the stress away.  The nurse recommended that I go to ED at Palmerston North Hospital right away.  My blood results showed elevated BNP and Troponin T.  They thought I had had a heart attack. 

More blood tests were done in ED and my BNP and Troponins stayed elevated.  (Another clue.) If I had had a heart attack then these numbers would have come down quickly.  An ED doctor wondered if I had experienced a Takutsubos event; a stress induced heart attack.  It sounded plausible to me, I went home.  This was Friday.  My Kiwi husband was in Africa.  He got on a plane and started the journey home.  By Monday I was feeling worse and I went back to ED and then was transferred to the coronary care unit. 

Over the next week I had an ultrasound and an angiogram and more blood tests.  The cardiologist handling my case said I had a hypertrophic cardiomyopathy and maybe it was genetic.  I also had a leaky mitral valve.  He recommended surgery.  The panel of cardiologists who reviewed the request for surgery recommended ACE inhibitors and beta-blockers for a few months to “remodel” my heart and then review.  (Hypertrophic cardiomyopathy presents as a thickened and stiffened heart muscle.  This was another missed clue.  But I was saved from unnecessary heart surgery, bonus!)

After a few weeks on the beta blockers and ACE inhibitors I was considerably worse.  (Another clue missed, these drugs can make AL amyloidosis patients worse.) I could now barely manage a walk around the block.  I called the cardiologist, he said I was out of shape.  I knew he was wrong.  He said to stop the ACE inhibitors but stay on the beta-blockers. 

The cardiologist then referred me for a stress echocardiogram and a second opinion with a cardiologist in Wellington.  I waited a couple more weeks for that appointment and continued to decline. By the time I got to see the second cardiologist I was struggling to get up stairs without help. I prepared for the stress echo first walking on a running machine ready to jump off and lie down on the exam table when the doctor requested. The radiographer could then use the echo wand to view my heart.  We needed to see my heart beating under stress.  

The doctor was holding my arm and monitoring my heart rate and blood pressure as soon as I started walking.  After only 90 seconds he urgently asked me to lie down and then the echocardiogram was done.  My blood pressure had gone down as soon as I started walking on the treadmill.  It should have gone up on exertion.  I think he knew right then what my problem was.  I got his official results two days later.  Preliminary diagnosis of AL amyloidosis that was confirmed two weeks later with a cardiac MRI with gadolinium contrast. 

As soon as I had the diagnosis I got onto Google and read as much as I could.  (It was the Christmas holiday and I had too much time alone to wonder.) When I looked for amyloidosis resources in New Zealand I found numerous references to a haematologist in Hamilton who had been a clinical research fellow at the National Amyloidosis Centre in London.  I wanted him to be my doctor.  My husband and I already had plans to move to Taupo.  Instead, we settled in Rotorua. because Rotorua Hospital had a chemotherapy ward.   We could easily drive from there to Hamilton to see the heamatologist. 

I started the weekly CyBorD chemotherapy regimen in early March 2017.  I was in and out of ED because of the side-effects of the chemotherapy.  The worst symptom was the oedema, fluid overload, a primary symptom of heart failure.  The chemotherapy drugs stressed my heart.  I had pitting oedema in my legs all the way up my thighs and my abdomen was distended with fluid as well.  I looked like I was 5 months pregnant.  I could not lie down flat on my back in bed.  If I did lie flat or bent over to pick something up off the floor I would feel a panic sensation in my chest.  It felt like I was drowning from the inside if my heart was below my waist.  I was also coughing up foamy white mucous out of my lungs.  I needed intravenous doses of diuretics to drain the fluid out of my tissues and take the pressure off my heart. (Special note: I did not have any problems with my kidneys.  They did not have amyloid damage and I likely tolerated the massive doses of diuretics because of this.) The chemotherapy drugs made the fluid retention worse.  The oral diuretics even at high doses were not working, this drove me to ED for relief. 

I spent the second month of chemotherapy as an in-patient in the coronary care unit (CCU) at Rotorua Hospital.  During this month because my symptoms and suffering was so bad my doctor actually suggested stopping chemo.  She thought maybe it was time for palliative care and giving up.  I did not give up.  The team in CCU at Rotorua Hospital did an amazing job of helping me suffer through the chemotherapy side-effects.  Then amazingly, I was in remission after 8 weeks of chemotherapy.  My haematologist said we could pause treatment. 

Over the next four years my heart improved.  For reference my heart was functioning at about 30% during chemotherapy.  I was being shuttled around in a wheelchair for appointments in the hospital.  My BNP was 1200ng/L.  On my echocardiogram my GLS was -8%, stroke volume 11mls and EF was 32%.  Four years later my BNP was hovering around 120ng/L.  GLS was -17%, just one point off normal.   My stroke volume was 30mls and EF was 65%.  I was back riding my bike, swimming, walking and working a part time job. 

Two years after that I relapsed.  We watched my numbers moving up for about a year before my heart started to get worse again.  I did five more months of CyBorD and then a stem cell transplant.  Today, a year and a half later I am still in remission and my heart is the best it has been since diagnosis.  I am hoping for a ten year remission. 

Being diagnosed with AL amyloidosis with heart involvement at the age of 51 was traumatic.  The disease progressed very quickly.  From diagnosis to being offered palliative care and hospice support was less than 6 months.  Doing my own research on the disease was necessary.  I read survivor stories on supportive websites around the world and I gleaned hope from these stories.  I learned as much as I could about my disease because the doctors and nurses caring for me in Rotorua did not have the experience that a centre of excellence for amyloidosis with a multi-disciplinary team would have in the UK or the USA or even Australia.  I had to educate myself and my care team. 

Looking back now I recognize how lucky I was to have resources and support.  I was lucky and I had to do some very hard work to take care of myself, to learn about my disease, and to push my own boundaries and prove that I could survive against the odds.  It was not easy.  Feeling myself dying was terrifying.  I laid awake for many many nights staring into the darkness overwhelmed at the thought of dying.  I felt that I still had something to do.  I still had a mission to accomplish with my life.  I had strange dreams of people holding me up from deep in the earth.  All of my ancestors buried in the earth below me were insisting that I stay alive.  My health care team did not give up on me either.  They gave me choices, they respected my decisions.  My husband stuck by me, though he struggled to face my emotional needs, he worked hard to keep us afloat financially and he took care of our home and our dogs.  I had many friends come to see me and call me from around the world. 

After chemotherapy was paused I needed IV doses of diuretics for five months and then I was able to transition to the oral pills again.  I still needed to take diuretics for four years.  (240mg of frusemide and 100mg of spironolactone daily.) Gradually i was able to titrate down the dose over those four years.  My heart improved very slowly.  What I know now is that not everyone will recover organ function after chemotherapy is successful.  Age and previous fitness levels have an impact on this.  I was youngish and still fit when I got diagnosed, so that helped me a lot. 

Relapse was hard.  The stem cell transplant was brutal.  My health care team was amazing – they took extra care with me because of my heart.  Not many AL amyloidosis patients can get a stem cell transplant.  But when they do and if they are successful then there is a good chance of a long drug-free remission.  So that’s where I am now.  I do not take any chemotherapy drugs and I don’t need diuretics.   I am grateful for the excellent care and support I have received from the doctors and nurses who work in our health care system here in New Zealand.  It has been more than 8 years since I was diagnosed with AL amyloidosis with heart and autonomic nervous system damage.  I was Mayo stage 3b, as bad it gets.  Today I am active, working, and enjoying my life.