The mental toll of living with a rare disease

The mental toll of living with a rare disease

Angelina is a fierce eight-year-old. But beneath her radiant smile and infectious laughter lurks a young girl fighting a daily battle. Angelina struggles to walk, talk, eat, and control her emotions. She can’t sleep because her brain won’t let her rest.

When her mother, Giovi Moschoudis, was 32 weeks pregnant, an ultrasound revealed a devastating reality. Angelina was missing a portion of her brain. Following numerous invasive testing procedures, Moschoudis and her husband Charles were forced to make the most difficult decision a parent could face. “The medical team gave us only seven days to contemplate termination,” Moschoudis says.

The doctors had serious concerns about Angelina’s chances of survival after birth and quality
of life. “With only six weeks until her due date and having experienced four previous losses,
we chose Angelina,” Moschoudis says.

When Angelina was born, the doctors had no idea about what caused her brain to only partially develop. They had no diagnosis, no treatment. “Following her birth, there was minimal conversation about her prognosis, with the medical team suggesting a “wait and see” approach until she reached 12 months of age,” says Moschoudis. It took three years of tenacious perseverance before the diagnosis of a rare disease arrived.

Living on the edge

Living with a chronic condition places a daily emotional strain on both patients and caregivers. Those with an undiagnosed or rare disease face unique challenges, including a longer time to diagnosis, more frequent misdiagnoses, few – if any – available treatments, and often complex care.

In the largest study of adults with rare disorders, researchers surveyed 1,218 adults living in the U.S. with any kind of rare disorder. They evaluated their quality of life, which included anxiety, depression, fatigue, pain, physical function, and social interaction. They compared it to both the general population and Americans suffering from common chronic diseases. Participants with rare disorders reported lower quality of life in all domains than the general population and people with common chronic diseases such as hypertension, arthritis, and asthma. They reported higher levels of anxiety, depression, fatigue, and decreased social engagement.

Moschoudis’ mental health has deteriorated dramatically. “I find myself in constant survival mode. There’s no time to pause and reflect on my feelings. I am constantly on edge, acutely aware of Angelina’s movements and gestures. I’m watching her behaviour for any signs of regression or health problems. I am constantly on guard and ready to act at any time.”

A photograph of a young girl in a white top
Angelina Moschoudis. Credit: Giovi Moschoudis

The never-ending cycle of worry and uncertainty keeps Moschoudis awake at night, wondering what Angelina’s future holds. “I’m haunted by the thought of what would happen to Angelina if one of us died, or the unthinkable possibility of her dying before us. These anxieties pervade every aspect of my life, keeping me in a constant state of apprehension and emotional stress.”

“Having a rare disease can be quite isolating,” says Louise Healy, education and advocacy manager at Rare Voices Australia. “You will often hear from people that they’ve never met anyone with the same condition.”

People coping with rare diseases often experience stigma, social isolation, or misunderstandings. This applies not only to readily apparent conditions but also to those invisible rare diseases that may not be immediately noticeable upon looking at a person, Healy explains.

The diagnostic odyssey

Some rare diseases are so rare that doctors have never seen or heard about them. Patients will often travel across the country to see one specialist after another, taking time off work or school in search of answers.

In Australia, as in the US, the average time to receive a diagnosis for a rare disease is five years, but many patients can wait for more than a decade before knowing what causes their suffering. Some will never fully know. “During that time, people often report not being taken seriously by healthcare professionals and feeling dismissed,” says Healy.

Angelina’s medical team never recommended genetic testing. Instead, doctors objected when Moschoudis requested it. “They said knowing wouldn’t affect her outcome. However, we believed that a diagnosis could have led to potential treatments and provided invaluable guidance for our family’s future.”

Simply having a name and having kind of a roadmap eases their mental health burden.

Amy Hunter

In a 2016 Australian survey, 66% of participants saw three or more doctors to obtain a definitive diagnosis and many received at least one incorrect diagnosis. Sometimes, the patient may even be misdiagnosed as having a psychosomatic disorder. “Misdiagnosis is common,” Healy says.

A 2018 survey conducted by Genetic Alliance UK found a significant correlation between the length of the ‘diagnosis odyssey’ and levels of anxiety and depression in patients, their family members and loved ones. “Regardless of whether these people actually had treatments or cures, simply having a name and having kind of a roadmap eases their mental health burden,” says Amy Hunter, Director of Research at Genetic Alliance UK, London, UK.

Not knowing the cause of Angelina’s brain malformation was incredibly challenging, says Moschoudis. “It left us feeling lost, with numerous unanswered questions and uncertainties about her future.”

At three years old, Angelina was diagnosed with CASK gene disorder, a rare genetic condition caused by CASK gene mutations. The CASK gene encodes a protein required for brain development and function.

Amid this ‘diagnosis odyssey’, mental health often falls at the bottom of priorities.

Moschoudis’ family experienced a range of emotions after receiving the diagnosis. While it shed some light on the underlying cause of Angelina’s brain abnormalities, it also revealed a sobering reality: CASK disorder is extremely rare, with only a few tens of cases reported worldwide. “It was an overwhelming and heartbreaking experience, filled with fear and uncertainty for her future.”

Amid this ‘diagnosis odyssey’, mental health often falls at the bottom of priorities, that is, even though living with a rare disease puts you at a higher incidence of mental health issues compared to the general population.

In Australia, only 20% of adults living with a rare disease surveyed felt they received adequate psychological care.

A diagnosis that hits the whole family

Angelina’s diagnosis fundamentally altered the dynamics of the Moschoudis family. Their daily routines revolve entirely around her needs. “The simple freedoms we once took for granted, like running errands or going for a leisurely walk, have become increasingly challenging, if not impossible,” said Moschoudis.

Receiving a diagnosis of a rare disease involves a great deal of uncertainty and many unknown factors. Individuals frequently seek ways to regain a sense of control and empowerment in situations where they feel overwhelmingly powerless. Participating in research, contributing to shared decision-making, and being treated as a collaborative team member with the healthcare team have all been shown to positively impact people’s mental health.

A photograph of a young family with santa
The Moschoudis family. Credit: Giovi Moschoudis

Healy says in Australia, Aboriginal and Torres Strait Islander people are an especially vulnerable group of people. The overall burden of rare diseases in Indigenous communities is unknown. But approximately one-fifth of Aboriginal and Torres Strait Islander peoples live in remote areas, resulting in even less access to clinical expertise at the point of care and referrals to genetics specialists. Healy believes that mental health support should be tailored to these families’ spiritual and cultural backgrounds.

Finding community

Approximately 2 million Australians suffer from a rare disease. While each condition may be extremely rare, there are over 7,000 rare diseases known.

Patients and carers frequently become advocates and form support groups. Several advocacy organisations in Australia, including the Angelina Cask Neurological Research Foundation, Syndromes Without A Name, and XLH Australia, raise awareness and support families as they navigate this complex journey.

Finding other families dealing with a CASK diagnosis has given Giovi newfound strength and mental resilience. “I find solace when speaking with other CASK mums and families who have special needs children as there is this silent understanding that behind closed doors, behind the smile, is a family struggling to get through day to day.”

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