Hereditary Transthyretin (hATTR) Amyloidosis is an inherited condition caused by mutations in the transthyretin gene, leading to the accumulation of abnormal amyloid proteins in various organs. It is a rare and progressive disease that affects approximately 50,000 individuals worldwide. 
The symptoms of hATTR Amyloidosis can vary depending on which organ is affected, but they commonly involve the nerves, heart, and gastrointestinal tract. Neurological manifestations may include peripheral neuropathy, sensory disturbances, and motor deficits. Cardiac symptoms can include heart failure and arrhythmias, while gastrointestinal manifestations may include abdominal pain and diarrhea.
Early detection of this disease is crucial as it provides a better chance of preventing disease progression. Treatment options include liver transplantation, which replaces the faulty TTR-producing liver with a healthy one, as well as gene-silencing drugs that aim to reduce the production of abnormal TTR proteins. Additionally, TTR stabilizers can help prevent the misfolding and accumulation of amyloid proteins.
However, hATTR Amyloidosis remains relatively unknown even within the medical community, leading to delays in diagnosis and proper treatment. As a result, patients often endure worsening symptoms and deteriorating health before receiving a diagnosis.
Diagnostic odyssey, on the other hand, is often avoided when at least one member in the family has already been diagnosed in the past. In such cases, the other members of the family are cognizant of the possibility of being affected by this type of Amyloidosis.
But regardless of whether they are already aware that the mutated gene runs in their family or not, hATTR Amyloidosis can still have a profound effect on the lives of the patient and the whole family. It can have a tremendous impact physically, psychologically, emotionally, and financially.
The fear of having the disease
Individuals with a family member that has been diagnosed with hATTR Amyloidosis know there is a possibility that they also carry the defective gene. They may have witnessed a parent, aunt, uncle or a grandparent battle the disease. Watching their loved ones become ill, deteriorate, or even succumb to Amyloidosis can leave a lasting imprint.
Aside from grief, this experience can be an overwhelming source of anxiety, fear, and uncertainty about their future health. It can create a constant cloud of worry, as they contemplate the possibility of eventually developing the disease themselves.
One of the challenging decisions they face is whether or not to undergo genetic testing. While it can provide definitive answers regarding their genetic status, testing also brings with it the potential burden of knowing their future risk.
The decision to get tested is deeply personal and varies from person to person. Some may choose to undergo genetic testing in order to have a clearer understanding of their genetic makeup and make informed decisions about their health and lifestyle choices. These include whether or not they would have kids of their own, considering the possibility of passing on the gene to their children. Others may opt not to be tested, preferring to live without certainty and focusing on proactive measures to maintain their overall well-being.
Living with the knowledge that one might have Amyloidosis can present significant psychological challenges. It may involve adopting a delicate balance of hope and realism. Individuals may find it helpful to seek support from healthcare professionals, genetic counselors, or support groups who specialize in Amyloidosis. These resources can provide guidance, information, and emotional support to navigate the complexities of living with the uncertainty of potential disease development.
Maintaining a healthy lifestyle, managing stress, and focusing on proactive measures, such as regular medical check-ups and screenings, can also be essential in promoting overall well-being and empowerment in the face of uncertainty. Ultimately, each individual’s journey will be unique. Finding coping strategies and support systems can greatly assist in navigating the emotional and psychological impact of living with the possibility of Amyloidosis.
The Diagnostic Odyssey Challenge
In some cases, the patient and their family had no idea that Amyloidosis runs in their family. They may have had family members who suffered from it in the past, but they were undiagnosed or misdiagnosed for a different condition. When this is the case, the patient usually goes through a diagnostic odyssey which can be long and arduous, often spanning several years before a definitive diagnosis is reached.
The patient may start having vague and non-specific symptoms at first, which again depend on which organ is affected. Some initially complained of severe headaches and disorientedness, some first noticed carpal tunnel syndrome on both hands, while others experienced tingling sensations in their legs and feet which eventually spread to their hands.
Initially, patients may seek medical attention from primary care physicians who may conduct basic tests. But due to the rarity and complexity of Amyloidosis, the condition often goes undiagnosed at this stage.
As the symptoms persist, patients may undergo a series of referrals to various specialists, including cardiologists, nephrologists, and hematologists. They conduct a battery of tests to evaluate organ function, such as echocardiograms, biopsies, and blood tests. However, the results can be inconclusive or misleading, further complicating the diagnostic process. Months or even years can pass before patients receive a definitive diagnosis, resulting in a significant decline in their health during this time.
But aside from deteriorating health conditions, the diagnostic odyssey experienced by patients can have significant emotional impacts, often leading to feelings of frustration, anxiety, and uncertainty. The prolonged and uncertain nature of the diagnostic process can create a sense of helplessness and distress, as patients grapple with unexplained symptoms and lack of clear answers. They may feel a loss of control over their health and daily lives, as they navigate through numerous medical appointments without a definitive diagnosis.
The repeated visits to different healthcare providers and the lack of concrete answers can also lead to feelings of doubt and skepticism, both towards the medical system and their own experiences. Patients may question whether their symptoms are being taken seriously or if they are being dismissed as exaggerated or psychosomatic. The emotional toll of this journey can be further exacerbated by the physical discomfort and limitations caused by the underlying condition, as well as the financial burden of medical expenses and time away from work.
When the patient is a child or teenager, the emotional impacts of the diagnostic odyssey on parents and caregivers can be profound and far-reaching. The journey of seeking a diagnosis for their child’s health condition can bring about a range of emotions, including fear, anxiety, frustration, and helplessness.
Parents and caregivers often experience a heightened sense of worry and concern for their child’s well-being. The uncertainty surrounding the diagnosis can create a constant state of stress and anxiety, as they witness their child’s health deteriorating without clear answers or effective treatments. They may also feel a deep sense of frustration and helplessness, as they navigate through various medical appointments and tests, searching for answers and desperately seeking the best care for their child.
The diagnostic odyssey of hATTR Amyloidosis can be a challenging and emotionally taxing journey for patients and their families. The rarity and complexity of the condition contribute to the challenges of reaching a definitive diagnosis, leaving patients grappling with uncertainty, frustration, and a loss of control over their health. The emotional toll extends to caregivers who share in the anxiety, fear, and helplessness as they seek answers and the best care for their loved ones.
hATTR Amyloidosis can cause significant physical, psychological, emotional, and financial challenges to the whole family it affects. Individuals with a family history of this disease often carry a constant burden of anxiety, fear, and uncertainty about their own health. Witnessing their loved ones battle the disease and potentially succumb to it can deeply impact their emotional well-being.
The decision to undergo genetic testing becomes a personal and challenging choice, as it carries the weight of knowing their future risk. Some may choose testing for informed decision making, while others prioritize living without certainty and focusing on proactive measures for their overall well-being.
In some cases, patients and their families are unaware of the presence of Amyloidosis in their family until symptoms arise. This lack of awareness can result in undiagnosed or misdiagnosed cases, leading to a lengthy and challenging diagnostic odyssey. This journey takes a toll on their emotional well-being, creating feelings of frustration, anxiety and uncertainty. The impact is similarly profound for parents and caregivers, who desperately search for answers on behalf of their children.
Creating awareness about hATTR Amyloidosis is important to promote early diagnosis, improve access to appropriate treatment, and support individuals and families affected by this disease.
Ben’s Friends has a free and safe online support community for people affected by Amyloidosis. Join our Amyloidosis Support Network so you can get in touch with people who truly understand what you’re going through.
 Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine. 2015;47(8):625–638.