A long and difficult journey to a diagnosis of a disease I had never heard of.
In 2012 I started having issues with my lower back. I tried everything I could to avoid having surgery but in 2014 I was out of options and had a laminectomy and discectomy L4/5, L5/S1.
In 2016 I developed an odd array of symptoms. I had swelling in my lower legs. After standing up and walking a short distance I would often get a whooshing sound in my ears, a dissociated feeling and a sense of impending doom. I also had a loss of temperature control and carpal tunnel issues.
I saw every ‘Ologist’ there is, except maybe a Proctologist. That list included an Endocrinologist, Cardiologist, Rheumatologist, an expert in autoimmune diseases who believed I had Potts syndrome and suggested I have more salt and water. All the tests the specialist performed showed some mild abnormalities, but nothing they felt was worth pursuing. How I wish that they had all known about Amyloidosis and conferred with each other.
In 2017 I had to have a spinal fusion which all went swimmingly until late 2018 when the leg oedema returned. Another Cardiologist, more tests, nothing significant. The swelling continued to increase , to the point it was up to my head. Not surprisingly my mental health was not in a good way. I went to see a second Rheumatologist who diagnosed me with Serum Negative Rheumatoid Arthritis. He treated me with a concoction of different medications which relieved my symptoms and the pain associated with them. I was so relieved to finally have some sort of diagnosis, even if eventually it was to be a
misdiagnosis.
I eventually apparently went into remission and no longer required the medication. However odd symptoms returned, mild left sided facial droop and tingling in my cheek, all investigated with an MRI and no cause found.
In August 2021 I required more back surgery for spinal stenosis. Spacer was inserted between L3/4. For 2 weeks all was good until the pain returned with a vengeance. The vertebrae had collapsed and on the 1st of Oct, I had my second spinal fusion.
At home 20 days later, I had an unknown collapse. The investigation process started again. An MRI to rule out something going on in my head. Another cardiologist who performed an echocardiogram which showed there was some enlargement in the wall of my heart. He ordered an MRI of my heart and referred me to my 3rd cardiologist. The MRI indicated that I had cardiac amyloidosis ( Whatever that was!!!). I went home and Googled it….bad, bad, bad! I should have never gone down that worm hole!!! A referral to Dr Simon Gibbs and Dr James Hare ( my 4th cardiologist ),and nuclear medicine scan confirmed the diagnosis. Both doctors explained my diagnosis and even with my medical background as a nurse, I found it extremely confronting. I can’t begin to imagine how daunting it must be for those with no medical knowledge. I was convinced that I only had a few years to live.
At the time of my diagnosis in 2022, there was very limited treatment available. Only Diflunisal, Doxycycline, Amitriptyline and Lyrica for the nerve pain and green tea. How things have advanced since then.
Due to the plaque in my heart, the cardiologist ( number 2, I think) thought it would be a good idea to insert an internal defibrillator/pacemaker (ICD) as a precautionary measure. I think they jumped the gun a bit and I kind of wished I hadn’t had it inserted. In the 4yrs it has been in it hasn’t done anything ( thank God) and has only recorded 3 or 4 abnormalities that lasted less than 12 sec. It’s been more of a hassle having to organise a technician to come in and switch it off every time I need an MRI…which has been quite frequent.
Genetic testing has confirmed that I have hTTRv (Asp58Val). So not only do I have a rare genetic condition, the mutation that I have is even rarer. There are only 7 reported cases worldwide. Due to my rarity, I have had a case study written about me which in a creepy way is kind of cool. At least I will go down in history.
Update August 2023
My back continued to deteriorate, reducing my ability to walk any distance due to the pain and weakness. After a visit to my surgeon and a consult with a neurologist and numerous tests, a serious stenosis was found at L2/3. So on Nov 22nd I underwent another laminectomy. For a while my pain improved slightly but my right leg got weaker, and I developed muscle wastage. By February I needed a wheelie walker to get around and the pain was unbearable. A further myelogram showed the vertebra had collapsed where the laminectomy had been done. That all went swimmingly until 3 days before I was due to be discharged. The pain increased and my mobility decreased. After yet another CT scan it showed that the fusion had collapsed, and the screws were protruding into the disc.
I was then referred to my 3rd surgeon who was more specialised in extensive back fusion. On the 18th of Feb I had my 7th back fusion. I was on the operating table for 8 hours while he revised the previous fusion from the 26th and then extended the fusion to T4. I now had titanium rods and screws from S2 – T4. No bending or twisting for me any more. It was a rough ride from there with 7 days in ICU where I developed multiple, bilateral pulmonary emboli, 7 weeks in hospital and 14 weeks of outpatient rehab. My entire body was having to learn a new way to do everything. There isn’t a muscle that doesn’t complain. But I can walk without assistance and drive again which is sooo good. I have some of my freedom back.
Geraldine Bergmeir
Update April 2026
April 2024 I somehow managed to break one of the titanium rods and they had to open me from top to bottom again. They stapled me back together. I took a photo and sent out a competition to all my friends to see if they could guess how many there were. Just when I thought it was the end of my back surgery in September 2025 I managed to break another rod. This time my surgeon inserted bracing rods and a bone graft. Fingers crossed that all that metal will support itself and not break again. I am now 7mths down the track. My surgeon was happy with everything at my 6mth check. Another check at the 12 month mark and hopefully I will never have to see him again.
As far as my amyloidosis goes, there hasn’t been a lot of change. My cardiologists ( yes I have 2) are happy that my heart hasn’t changed a lot.
In July 2025 I started on Vutisiran. It was so good to not have a 3mthly infusion for the Patisiran. I have since had my Port removed as I no longer need it.
2026 is the start of a new chapter for my husband and I. We are selling our house in Melbourne and building our forever home in a little town called Woorage in the Nth East of Victoria. It’s situated about ½ way between Beechworth and Yackandandah. I can’t wait. It’s been a long time in the planning and I thought for a time that it may never happen. It’s still a little surreal and I wont really believe it until the first sod is turned in early 2027.
Despite the huge change in my life from the Amyloidosis, I refuse to let it beat me!!!
Geraldine Bergmeir
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