The story of Lane
I was diagnosed with hereditary amyloidosis transthyretin (hATTR) in 2011, after many years of dealing with a long list of seemingly unrelated ailments and consulting a variety of specialists each of whom treated specific symptoms but never imagined they were linked to an overarching disease. My father was diagnosed with hATTR in 1963 and died in 1968 when he was only 49 years old. He had two first cousins who were never officially diagnosed but who had very similar symptoms to my father. They all had terrible polyneuropathy and GI issues and progressed from walking with a cane, to a wheelchair to becoming bed bound in a short period of time. When my father was diagnosed there was very little information available about the disease and no genetic testing or treatment. We suspected but did not know that it was hereditary. My presentation of the disease was completely different from theirs.
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hATTR Amyloidosis is an underdiagnosed, progressive, debilitating, and usually fatal genetic disease in which transthyretin proteins, which are made in the liver and which transport vitamin A and thyroxine throughout the body, mutate to become unstable and misfolded. These misfolded proteins form fibrils that can deposit in various areas of the body leading to a variety of debilitating symptoms in the heart, nervous systems and autonomic nervous system, GI system, and various other organs and systems. Â
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My likely first symptom was severe bilateral carpal tunnel syndrome in my mid-30s. I had severe tingling and numbness in my fingers, and pain in my wrist and hands. Bilateral carpal tunnel release surgery resolved the issue then but nobody imagined it was related to my father’s disease. In my early 50s I began to experience a rapid heartbeat and later Atrial Fibrillation and breathing issues. I consulted a cardiologist who treated me for more typical cardiomyopathy and a pulmonologist who was unable to determine a diagnosis. Each of the physicians was aware of my family history but none was familiar with amyloidosis. The available information about and awareness of the disease was still minimal. During these years I also suffered from a variety of tendon and hand issues, also fairly common with this disease.
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A dramatic incident in my late 50 led to my diagnosis. I experienced a heart block, fainted at home, went to the ER with dangerously low BP and heart rate, received a pacemaker and a heart biopsy and was diagnosed with hATTR amyloidosis after genetic testing. Having watched my father’s end of life and horrible experiences with the polyneuropathy, body wasting, malnutrition, weakness, and uncontrollable GI issues, I was devastated to know that this was likely my fate. At this time, there was no treatment available for the disease, and I had very little hope. I was referred to a center of excellence for the disease, one of very few in the world then, and told that the best option for me was to have a heart and a liver transplant. I was fortunate to be able to have these on May 1, 2012 and have done very well from these transplants. But they do not cure the disease and as I had been told to expect, it has progressed.
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In 2011 I had no obvious signs of polyneuropathy other than the earlier bilateral carpel tunnel syndrome, but I began to develop gastrointestinal symptoms, likely related to nerve damage from the disease –  severe constipation and diarrhea, and weight loss. These symptoms can be socially isolating and are very difficult to manage. Polyneuropathy began to develop in my feet and legs a few years after my transplants and has caused me to have balance issues and to experience several major falls, broken bones, and significant bruising. Muscle wasting and the associated loss of strength have also progressed over the years. With more than a hundred genetic variants causing this disease and even within the same variant, the presentations can be wildly different in both symptoms and age of onset. This contributes to the difficulty of diagnosis.
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The available information about this disease has exploded in recent years but the number of physicians who recognize it continues to trail dramatically. A very few medications to help slow the progression of the disease have been FDA approved. All are prohibitively expensive and insurance coverage approval is usually a difficult  process. There are additional treatments currently in development but none to cure the disease. Several very successful and helpful support groups are available to provide information to us patients and many of us, myself included, participate as patient advocates speaking to groups of medical professionals, medical students, fellow patients, and caregivers about our experiences with hATTR to help raise awareness of the disease so future patients might have an easier and shorter path to diagnosis. It took many years to get to a diagnosis for me and many of my patient friends tell similar stories.
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It is important to me that anybody who has this disease and their physicians have access to the most current and best information available. I want them to know that there are things they can do and people they can talk to for help, and most importantly I want them to know that there is hope for the future. They are not alone.
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