Published on Dec 01, 2020
Authored by Caroline Pak, PharmD, Medical Editor-in-Chief
Getting a diagnosis for a rare condition can be a long and difficult journey that in some cases, may take years. This was certainly the case for Walt, who saw a number of doctors for seemingly unrelated medical issues for almost 12 years, before being diagnosed with a condition called ATTR-CM (short for transthyretin amyloid cardiomyopathy). Here, Walt shares the story of his quest to find a diagnosis for the symptoms he was experiencing.
Before I got sick, I was enjoying a rich, full life. I had various jobs in the tech sector and even founded a kombucha company! But during the latter part of my career, I started having symptoms of an illness that became so severe, I couldn’t work anymore. At the time, I didn’t know what was making me so sick.
Over the ensuing years, I had many different medical problems. It started in 2005 when I had nerve issues in my hands, specifically carpal tunnel syndrome and trigger finger. I had five trigger finger operations and two surgeries for carpal tunnel. What my doctors didn’t realise is that carpal tunnel syndrome can be a symptom of ATTR-CM. Two years later, I was diagnosed with congestive heart failure (CHF), but the doctors were not sure what caused it.
I had a lot of trouble sleeping at night due to my persistent cough and other CHF symptoms. It got to the point where I was so tired that it became debilitating. I just couldn’t get going in the morning.
Next came problems with sciatica—a nerve condition that caused pain, weakness, numbness, and tingling that started in the back of my thigh and went all the way down to the sole of the foot. I was having so much trouble walking that I had to buy a mobility scooter to get around.
In 2015, my doctors thought they found the cause of my CHF, and I had a couple of procedures to alleviate it. I did feel better for a while, but then my health worsened again. In 2016, I had several surgeries on my spine and a left knee replacement.
Finally! In 2017, I was sent to a heart clinic for treatment for pulmonary hypertension. By sheer good luck, this clinic was in a hospital that specialises in the condition that I suffered from, called amyloidosis. The cardiologist there looked at my lengthy electronic medical history very carefully and decided to have me tested for the condition.
It’s hard for me to describe what I felt after receiving a diagnosis of ATTR-CM, a form of amyloidosis. I know it sounds odd to look at being diagnosed with a potentially fatal condition that way, but I was actually relieved to finally know what was causing all of my different symptoms for over several years.
Looking back, I realise that there were several missed opportunities for a correct diagnosis. After I was diagnosed, I spoke with a number of my doctors about ATTR-CM. Most of them commented that they had read about the condition in medical school but never saw someone with it. That’s why I try to share my story with others who may be having similar symptoms—even though I never liked talking about my health issues.
If you were diagnosed with heart failure without knowing what actually caused it and have experienced symptoms similar to the ones I did, you should consider talking to your doctor about the possibility of having ATTR-CM.
Getting an accurate diagnosis as soon as possible is important, because treatments may be more successful if started earlier in the disease. I’m a pretty bright guy, and I read a lot and do a lot of research, but I never came across any of this. Maybe I can help someone get a diagnosis faster.
My advice to others is to:
And if you are diagnosed with ATTR-CM, don’t suffer alone. It’s really important for you, and for your caregivers and family, to know that you’re not alone. Your doctor can help you find support groups in your area or even online. And do everything you can to take care of your health. I watch my salt and fluid intake and try to maintain a healthy weight. I also stay as active as I can. My partner, Trudi, and I go on walks together as often as possible.
There is a saying that goes, “you have to feel pain, but you don’t have to suffer.” I try to live my life that way. I may suffer physically, but how I live with the condition is up to me. And that’s why I’m doing all of this.
Last reviewed: 15/08/2019
-Australian Amyloidosis Network
-NZ Amyloidosis Patients Association