Dual Deprivation for Rare Disease

This piece, our final runner-up entry in Findacure and Medics4RareDiseases' "Student Voice" contest, speaks to the need to understand the psychological burden that co-exists with the physical struggles in individuals with rare diseases, and their caregivers. **Please note: due to space constraints, the “Student Voice” blogs appear in condensed form. (the full-length versions which were submitted for the contest, can be found here).

In cases of rare diseases, the genetic and biological mechanisms of conditions and physical ailments can be great, but this is only the tip of the iceberg. A significant number of patients with rare diseases and their caregivers face constant difficulties concerning mental health. It is indisputable that these patients require more from doctors and medical professionals, to enable them to navigate the physical and psychological struggles they face. There is a need to raise our sensitivity to all aspects of their care to allow for better detection of problems and to deliver the necessary holistic care.

I was fortunate enough to gain an insight into what a life with a rare progressively disabling genetic condition entails when I was introduced to patient “X” and their parent “Y”  through FOP Friends, a charity that supports research into Fibrodysplasia Ossification Progressiva (FOP). FOP is an ultra-rare progressively disabling genetic condition in which connective tissue such as tendons, ligaments, and muscles gradually turn into bone. The condition usually manifests in childhood and those affected often describe it as a healthy mind locked inside a frozen body. They live their lives fearful of minor injuries or infections, which can trigger flare-ups. They suffer from skeletal deformities, stiffness, and chronic pain. The specific pathogenesis of FOP is not well understood and there is no effective treatment. Sadly, the average life expectancy is around 40 years.

In addition to a cumbersome healthcare system, a lack of funding, and scarceness of services, they felt information was seldom shared effectively between specialists and local services.

X and Y discussed several barriers to accessing services and how it fell for Y to coordinate X’s care. In addition to a cumbersome healthcare system, a lack of funding, and scarceness of services, they felt the information was seldom shared effectively between specialists and local services. “Even if they are, sometimes they don’t bother reading his file”, Y explained. Though biomedical dominance is partially to blame, FOP’s rarity causes inadequacies in the management of physical symptoms.

I will attempt to highlight key lessons I learned from X and Y, in this piece.

The demoralized patient

FOP creates pain, which is demoralizing. It creates disability, bodily disfigurement, social isolation, a medium for being bullied, feelings of dependency, and perceptions of being a burden – all of which are also demoralizing. Demoralization in patients with rare diseases seems to encompass the fundamental psychological elements of disempowerment and subjective incompetence. It creates a sense of futility through knowing their medical situation and by virtue the functional implications are never going to convalesce. Consequently, patients feel and helpless and hopeless.

Demoralization is best tackled through mitigating the patient’s physical or emotional stressors as well as fortifying their resilience. With chronic conditions, demoralization often lessens as novel management plans are delineated and symptoms are actively managed. With terminal conditions, demoralization can be diminished when the patient believes their doctor understands their concerns, acknowledges their suffering, and is capable of addressing their problems. Exploring attitudes towards hope, fostering the search for a renewed purpose, and using cognitive behavioral therapy to reframe negative beliefs can be valuable.

Caregivers need care too

As a single parent, Y serves as X’s primary caregiver. During our conversation, Y emphasized the daily stress and frustration they face and the need to always “try and hold it together”. This is compounded with the continuous need to advocate for X to receive the care they deserve.

Y’s duties entail coordinating X’s numerous and multifaceted needs, sacrificing their own in the process. As a parent, it is heart-rending to watch your child suffer while feeling like there is nothing more you can do. There is guilt over how well you are meeting the needs of other family members. This, unfortunately, translates to using respite hours to care for them instead of yourself. Sleep deprivation, chronic fatigue, and aches and pains are just some of the physical consequences. Sadly, Y is not alone; 65% of rare disease caregivers in the UK reported they experienced depression while 88% reported anxiety and stress.  What doctors or medical professionals need to do is exhaust all options, using a biopsychosocial approach, to make a difference.

From child to adult

The chronic nature of FOP means that continuity of care is essential in minimizing complications and improving outcomes. Therefore, structured transition programs aimed at effectively moving young adults, such as X, from pediatric to adult services are crucial for closing gaps in care. It also diminishes loss of access to allied healthcare professionals previously available to patients and reduces losses in follow-up rates. We must address additional issues that arise from adolescence including susceptibility to mental health deterioration, independent health care behavior, self-advocacy, self-esteem, sexual health, and advice on education and vocational planning.

Final thoughts

When considering the different ways rare diseases can impact affected families, it is not surprising that they encounter problems with mental health.  It is almost irrefutable that additional resources are required to enable them to navigate the physical and psychological struggles they face. Acknowledging suffering, understanding concerns, helping coordinate care, allowing for respite care for caregivers, and ensuring a smooth transition to adult services are some of the many strategies we can employ.

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