A look at the emotional and psychological effects of diagnosis

A diagnosis of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) between the ages of 30 and 60 can be profoundly life-altering. The gravity of the disease coincides with a period traditionally devoted to building, enjoying, or securing one’s future, amplifying the impact.

These decades are often defined by marriage, raising children, career advancement, financial milestones, and, eventually, the anticipation of retirement and personal fulfilment. A diagnosis during this time disrupts those expectations in deeply personal and often painful ways.

My late husband, Aubrey, was diagnosed with hATTR-PN at 49. At the time, our youngest son was 11 and entering a critical stage of adolescence, while our eldest daughter, 16, was preparing for university. Rather than focusing on their needs, our energy shifted to planning Aubrey’s next steps.

A diagnosis like this brings shock, grief, and fear, emotions we experienced acutely. We mourned the life we had envisioned as plans suddenly became uncertain or impossible. The knowledge that the condition is progressive and life-limiting led to chronic anxiety, depression, and helplessness. Aubrey grappled with questions of identity and purpose, transitioning from independence and optimism to managing a serious illness.

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Relationships and family life

For those in their 30s and 40s, the diagnosis complicates decisions about marriage and parenthood. Some feel guilt or fear about passing on the genetic condition to children; others worry about being physically able to raise a family or be present for milestones. Partners may abruptly become caregivers, shifting relationship dynamics and adding emotional and practical strain. Communication, intimacy, and shared dreams are all affected as families adapt to uncertainty.

For those diagnosed in their 50s or early 60s, the timing can feel especially cruel. As retirement, travel, or long-awaited leisure activities become possible, declining health and energy intervene. Instead of enjoying the rewards of decades of work, many find themselves navigating medical appointments, treatments, and increasing physical limitations.

These decades are often peak earning years, yet amyloidosis can severely impair one’s ability to work due to fatigue, pain, organ involvement, or neurological symptoms. In our case, we had to abandon a growing business, resulting in a significant income loss that created financial stress while we were still supporting our children and paying our mortgage.

Social isolation and loss of independence

As symptoms progress, many withdraw from activities they once enjoyed. Fatigue and physical limitations made travel, hobbies, and even everyday social interactions difficult for Aubrey. For those diagnosed, this loss of independence can be especially harrowing during a life stage expected to offer freedom and enjoyment. Friends and peers may struggle to understand, leading to feelings of isolation or being left behind as others continue their lives uninterrupted.

One of the most challenging aspects of a midlife diagnosis is living with constant uncertainty. Long-term planning becomes complicated as the future feels unpredictable. We struggled to balance hope for medical treatment with the reality of a severe, inherited condition affecting not only Aubrey but potentially our four children.

While the diagnosis reshapes life in painful ways, it can also foster resilience, deeper relationships, and a renewed focus on what truly matters. We grew closer as a family, learned new ways to communicate, and came to value the importance of supporting one another. Above all, we learned not to take life for granted and to make the most of each day together.

Note: Amyloidosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Amyloidosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.