A long and difficult journey to a diagnosis of a disease I had never heard of.
Although I have recently been diagnosed with Hereditary ATTRv Amyloidosis I believe that I have had some symptoms for most of my life.
In 2014 I started having issues with my back, ending up having a laminectomy. In 2016 I started getting swelling in my legs, woozy episodes where I would stand up and walk 10-20 steps and then get this whoosh, whoosh sound in my ears, a dissociated kind of feeling and a weird sense of impending doom. I am aware of what is going on around me but can’t participate. This sensation can last anywhere from 10sec to 1min. I also had/have loss of temperature control (sweats/ cold) and carpel tunnel issues. Before  any one diagnosed why this might ne happening I saw every ‘ Ologist’ there was. Endocrinologist, Cardiologist, Rheumatologist and an expert in autoimmune diseases, he decided that I had Potts Syndrome.  All the tests the specialist did, showed insignificant results, none of which they believed warranted pursuing.
In 2017 I had my first spinal fusion. All was going swimmingly until late 2018 when the oedema started to return. Again no one was able to tell me why. Further investigations with another Cardiologist showed a slightly low ejection fraction but this was not thought to be significant. At follow up 12mths later  there was no heart enlargement and the Cardiologist decided this  was just ‘how I ran’.
However the swelling slowly moved up my legs until it was all the way to my head. I could hardly walk as my feet were so swollen and painful I couldn’t get any shoes on and I refused to go out in my slippers. I was getting very depressed and thought that I was just going to continue to deteriorate with no one able to tell me what was going on, when a friend suggested I see her Rheumatologist. So despite having seen a Rheumatologist  before I went and saw him. He diagnosed serum negative Rheumatoid Arthritis and put me on a course of Prednisolone, Plaquenil, Methotrexate, Amitriptyline and Doxycycline. I was so relieved to finally have a diagnosis and treatment that seemed to work as the swelling went away, as did the pain associated with it.
But about 12 months ago I developed a slight left sided facial droop and tingling in my cheek. I went and saw my GP who sent me for a MRI of my head to rule out a lesion and a hearing test to exclude nerve damage. All tests  were negative and again no explanation for my odd symptoms.
Last year I started having issues with my back again and in August 2021 I had more back surgery where a spacer put between L3/L4. This seemed to work really well initially but two weeks post-surgery the pain returned with a vengeance. The bone had collapsed and on the 1st of October 2021, I had a second spinal fusion. Twenty days after this surgery, I had an unknown collapse at home. I remember sitting watching the television and thinking I needed a drink. The next thing I remember is waking up on the floor of my son’s bedroom. I have no idea why as he was not there. I had managed to put my glass on the bench in the kitchen on the way through. I had fallen so hard and fast that I had managed to twist both my ankles under his bed badly bruising them and causing swelling which made it difficult to walk. My GP started a myriad of testing again. I saw a neurologist and had another MRI of my head to rule out any seizures, growths, strokes or other possible causes of the collapse. I was also referred to another cardiologist who ordered an Echocardiogram. This showed that I had some enlargement of the walls of my heart. My father was diagnosed with HOCM  Hypertrophic Cardiomyopathy, 30years ago and the cardiologist believed that I may also have it. He ordered and MRI of my heart and referred me onto my 3rd cardiologist who was an expert in HCOM. But the MRI strongly indicated that I did not have HCOM but Cardiac Amyloidosis. I had no idea what that was. I did the worst thing I could of done and Googled it. I shouldn’t have gone down that worm hole!!!
A referral to Drs Simon Gibbs and James Hare (my 4th cardiologist) and a nuclear medicine scan confirmed the diagnosis without a heart biopsy. They  explained everything about my type of amyloidosis to me and also tested an old colonoscopy biopsy which confirmed  I had amyloid plaques in my gut too. I had a cardiac defibrillator implanted on the 20/5/2022 as a precaution  because of significant damage to my heart from the amyloid.
So my life has been a whirl wind of appointments and tests and an emotional roller coaster which I am still very much on.
Currently I have altered sensation in both feet, the left worse that the right but it has always been that way. My left ankle has been weak for years and I keep rolling my ankle. An ultra sound a few years ago showed thickening in the ligament and also a tear which the doctor said they could surgically repair. I told him ‘that when it snaps, they can repair it’.
I have tingling in my hands. Some days worse than others and I have on and off again carpel tunnel symptoms in my right wrist. I continue to have altered sensation in the left side of my face and a slight facial droop that nobody else seems to notice. I alternate between constipation and diarrhoea but looking back on that now I have done that all my life and was again miss diagnosed with IBS.
I also have loss of temperature control and 15 to 20  hot sweats a day, most of them overnight. When I walk I sweat profusely, even if the temp is below 5 deg. But  I have always perspired a lot all my life. I also have episodes where I just can’t get warm despite being under a feather doona with the electric blanket on.
Along with the pins and needles, I get sharp stabbing pains that only last a second but keep coming and going for hours sometimes. I have nerve pain, particularly in my lower back and buttock area. It feels lick someone has injected battery acid.
But as much as it’s not the diagnosis I wanted to have, it is good to finally know that I am not going crazy and the symptoms I have been having for years do actually have a cause. I was starting to think that all the specialists I had seen were thinking that I had Munchausen’s Syndrome. Very depressing when no one can tell you what is wrong and not being able to get treatment.
The genetic testing showed that not only do I have a rare hereditary condition but there is only two other documented cases in the world of my mutation Asp58Val.  In a creepy kind of way, it’s kind of cool to be a ‘super freak’. Dr. Gibbs has actually asked if he can write my case up and why not? I may as well go down in history!
I currently take Diflunisal, Doxycycline, Amitriptyline and Lyrica for the nerve pain and to help me sleep and Vit D and magnesium and Nexium to prevent gastric issues from the Diflusinal. The fluid is bad some days so I take Frusemide as needed and limit my fluid intake. I have to be careful not to get dehydrated as that lowers my already low blood pressure and causes my ‘woozy’ episodes to increase.
I was taking Green tea capsules but this increased the number and intensity of my hot flushes so my doctors have stopped that .
I have slowed down considerably. I can’t walk like I used to. In 2020 as we couldn’t do anything other than walk, I was walking 10-12km a day. I managed to clock up 50km shy of 5000km for the year. I wish I had tallied up the kms earlier and walked that last 50!!! But in spite of all the issues above, my quality of life is still pretty good.
I have 2 sister’s and a ½ brother who are all waiting to have or receive genetic testing results to see if they carry the gene. from their genetic testing to find out if they also carry the gene. Fingers crossed that they have dodged that bullet.
I think one of the most difficult thing about having this diagnosis, is knowing that I could have possibly passed it on to my kids. They are only 14 and 16 and we think they are too young to take on the burden of possibly knowing they carry a rare genetic condition that could possibly be fatal. All we have told them so far is that I have a ‘dicky’ heart and having treatment for it, not what is causing it. I will talk to them about it when they are older or if, unfortunately they start to develop symptoms.
Update August 2023
A year ago, I wrote that my quality of life was pretty good. Unfortunately that changed at the end of 2022 when my ability to walk any distance began to decrease due to increasing back pain and weakness in my right thigh.
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 vertebra had collapsed where the laminectomy had been done.
Due to what I felt was a conflict of interest, I returned under the care of my original back surgeon and on January 26th had a fusion of L2/3 and large screws put into my pelvis to help support the sacral vertebra and prevent them from collapsing.
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 ended up only being able to lie on my left side. Unable to get out of bed, roll, go to the toilet. I have never been so humiliated. As a nurse I am not a good patient.
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.
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 is 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 o fmy freedom back.
Rehabilitation is slow and recently I started to lose my balance. It is hard to know whether this is just a result of my back problems, some medication issues or progression of my amyloidosis. Only time will tell.
I had hoped that I might be accepted on a clinical trial this year but was told I did not fit the trial criteria. Although this was rather a blow at the time, it is also good to learn that my amyloidosis has not progressed enough for me to be on this trial.
Geraldine Bergmeir
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