Getting a diagnosis for a rare disease 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 disease 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.
Amyloidosis refers to a disease caused by a buildup of abnormal proteins, called amyloid, in the body’s organs and peripheral nerves. These protein deposits can cause organs to not function properly and lead to nerve damage. Often, symptoms of amyloidosis are not specific or may seem similar to symptoms caused by other conditions. ATTR-CM primarily affects the heart, as clumps of amyloid are deposited in the heart tissue. This affects the heart’s ability to function properly.
A bit about me
Before I got sick, I was enjoying a rich, full life. I had a 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.
What to make of my symptoms?
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 realize 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.
At long last, a diagnosis
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 specializes in the disease 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 disease.
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 disease 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 realize 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 disease 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.
Words of advice from someone who’s been there
My advice to others is to:
- Always provide your complete medical history. With all of the things I had wrong with me, when I had to fill out something related to my medical history, I would sometimes leave out information. Why would I tell my cardiologist that I was having nerve issues in my hands? Is that even relevant information? But looking back, I see that these types of things were all indicators of amyloidosis. Even if you think something is irrelevant, share it anyway.
- Make your medical experience a two-way conversation. As much as we should respect our doctors, we also have a responsibility to manage and research our own health. If the doctor misses it, you have to ask the doctor if he or she has considered another medical diagnosis. And if your doctor isn’t willing to engage with you, or is challenged by your questions, you’re seeing the wrong doctor.
- Ask questions. That means asking not just what is happening but why it is happening. After all, you may know what is happening to you, but do you know why it’s happening?
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 my 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 what I do with the disease is up to me. And that’s why I’m doing all of this.
- 1. National Institutes of Health, Genetic and Rare Diseases Information Center (GARD). Tips for the Undiagnosed. Accessed November 4, 2019.
- 2. Amyloidosis Support Groups. Amyloidosis Awareness. Accessed February 26, 2019.
- 3. MedlinePlus. Cardiac Amyloidosis. Accessed February 26, 2019.
- 4. American Academy of Orthopaedic Surgeons. Carpal Tunnel Syndrome. Accessed November 4, 2019.
- 5. American Academy of Orthopaedic Surgeons. Trigger Finger. Accessed November 4, 2019.
- 6. American Heart Association. What Is Transthyretin Amyloid Cardiomyopathy (ATTR-CM)? Accessed November 4, 2019.
- 7. MedlinePlus. Sciatica. Accessed November 4, 2019.
- 8. Witteles RM, Bokhari S, Damy T, et al. Screening for transthyretin amyloid cardiomyopathy in everyday practice. JACC Heart Fail. 2019;7(8):709-716.
- 9. Amyloidosis Awareness. Accessed November 22, 2019.