Turning to stone: how a rare disease patient’s health and wellbeing is influenced within our society
Submitted for The Student Voice Prize
Abstract
Living with a rare disease is challenging and a source of much frustration. This is partly owing to the complex care needs of rare disease patients but also owing to discrepancies in access to healthcare. This article describes my reflections into some of the components of intersectionality that can influence a rare disease patient’s health and wellbeing. I have delved into the life of a patient living with fibrodysplasia ossificans progressiva (FOP), to whom I was introduced through the FOP Friends charity to explore the potential barriers she faces with a view to discuss how to minimise them. Pseudonyms are used throughout to protect anonymity.
Introduction
Fibrodysplasia ossificans progressiva (FOP) is a medical curiosity characterised by congenital malformation of the big toes [1]. Individuals undergo heterotopic ossification – the growth of bone where bone does not normally exist [1, 2]. This has an uncanny manifestation in FOP such that skeletal muscle and soft tissue transforms into bone following the slightest of injuries and mildest of illnesses [1, 2]. Although it can present in numerous ways, one thing common to all individuals affected by FOP is lifelong uncertainty concerning which of their joints will fuse, when, how and to what extent. This precariousness is often compounded by deep-rooted societal opinions relating to each member’s qualities and characteristics. Termed as intersectionality, this is a lens which recognises that ‘health is shaped by a multi-dimensional overlapping of factors such as race, class, income, education, age, ability, sexual orientation, immigration status, ethnicity, indigeneity, and geography’ [3]. In a world inadequately catered to the needs of those with disabilities, intersectionality plays a key role in targeting avoidable limitations on rare disease patients and restoring some of their independence. Thus, through this article, I aim to delve into the life of Rose, a 37-year-old woman living with FOP and explore notions to take forward in our practice of dealing with the rare and unknown.
What is FOP?
Caused by a mutation to the ACVR1 gene, FOP is incredibly uncommon, affecting just 4000 people across the globe (1 in 2 million) [4]. Heterotopic ossification is the abnormal process by which bone develops within skeletal muscle and soft tissue following significant injury or surgery [2]. This new bone growth brings with it an unwelcoming experience of decreased range of motion in the affected region, swelling and pain [5]. In FOP, this phenomenon occurs more aggressively with flares being triggered by very low impact accidents, effectively making FOP individuals ‘allergic’ to bumps. Attaining symptomatic relief and halting disease progression is yet another challenge by virtue of the inability to surgically resect the abnormal bone and limitations in approved medications [6]. With no current cure, parents are often told to enjoy their time with a child who may have a considerably shortened life expectancy [7].
Rose’s second skeleton: are two better than one?
Like most children born with FOP, Rose was born with short, crooked big toes. A TV programme prompted Roses’ mum to visit the doctor following the development of several lumps and swellings. At age 12, after months of doctoral guesswork including prolonged chemotherapy and radiotherapy treatment for suspected aggressive fibromatosis, FOP was diagnosed.
It was only until she reached her late 20s that the reality of what FOP is at its worst had struck her. From this point on Rose underwent numerous episodes of bone growth that would occur either in response to illness or injury or entirely spontaneously. Joint fusion in FOP can occur at any angle, resulting in the possibility of arms and legs freezing whilst either entirely extended, flexed or anything in between. As each flare causes the fusion of yet another joint, it steals away bodily function.
The very limited number of rare disease cases inevitably restricts the number of medical professionals devoted to its research. Access to healthcare is undeniably impacted by the geographical location of resources. Rare disease patients can find themselves travelling long distances to attend appointments with several different medical professionals. As a result, they experience delays in accessing care along with fatigue, financial loss and disruption to school/work [8]. With FOP, this disparity has forced a small patient group to grow deeply interconnected on a global scale. Part of Rose’s reassurance during the height of the pandemic was owing to an already well-established virtual network. Rose is in contact with a UK specialist as well as expert clinicians in America with whom she communicates any concerns, receiving a response within minutes. Thus, technology and telemedicine can serve to improve communication and coordinate patient care. By encouraging multidisciplinary working through virtual means, rare disease patients can obtain accessible points of contact and consistent support [8].
How do rare disease patients survive in society?
The wellbeing and life choices of people with disabilities can be considerably influenced by their level of education and financial support. In FOP, each flare of the disease brings change, adaptation, and adjustment to a new phase. From fundraising for a stair lift to shifting into a bungalow and fighting for an electric wheelchair, Rose has implemented numerous changes to her lifestyle and home to retain some independence. These modifications have benefited Rose immensely by preventing her from being entirely bedridden. Although she depends on her family for most tasks, the independence she has attained from these adaptations serve a far momentous purpose in Rose’s overall physical health and mental wellbeing. Whilst Rose has successfully fought for some of these amenities, she has had to raise funds and rely on family to purchase others. She also describes to me her frustration at several other patients who do not persist in their application for much needed facilities. A lack of familiarity of the effects of rare diseases amongst healthcare professionals combined with a rare disease patient’s incomplete understanding of their disability rights can limit access to justifiable health services that their more familiar ‘common’ disease counterpart would perhaps not experience. Therefore, it is key to increase awareness amid both healthcare professionals and patients of disability rights in rare diseases to minimise discrepancies in gaining warranted resources and subsequently encouraging movement within society.
The scarcity of available knowledge and complex care needs of rare disease patients makes diagnosis and management difficult [9]. An uncomfortable experience for Rose included receiving a prescription of large tablets which she was unable to swallow due to the limited mobility of her chest. In conjunction with an impractical expectation to include an estimated 8,000 rare diseases into the medical curriculum this places medical professionals in a challenging position to provide holistic, patient-centred care without the armoury or ammunition to do so [9]. Thus, in many ways, accessing modern day healthcare for rare disease patients has been akin to medical care for the general population during the pandemic. Limited information, uncertainty, and an unpredictable and unforgiving illness. Nonetheless, the sheer number of people inflicted by the SARS-CoV-2 virus has prompted the rapid funding of research and continuous experimentation that has proved fruitful. However, the process of new drug development for FOP is often slow and poorly funded because of fewer cases of the disease worldwide.
What happened during the pandemic?
The pathophysiology of FOP means that any irritation to the body can induce a pro-inflammatory reaction which triggers bone growth, known as a flare. Undesirably, the flare itself places the body in an inflammatory state, leading to a troubling cascade of flare after flare. Hence, during the pandemic, FOP patients have found themselves conflicted in weighing the risks of obtaining the intramuscular COVID vaccination with being exposed to the virus. As a predominately respiratory illness, COVID-19 has the potential to cause severe and debilitating effects owing to the already restricted lung function of FOP patients. Moreover, where the use of non-invasive and invasive ventilation for the rest of the population poses limited issues; fusion of the spine, jaw and ribs make such oral trauma complicated and life-threatening for those with FOP [10]. Therefore, there are several aspects to consider when ensuring safe decision making and fair allocation of health resources because what may benefit the majority, may not be favourable for rare disease patients.
Conclusion
To conclude, the challenges surrounding living with a rare disease are all too often compounded by uncertainty and frustration. From Rose, I gathered a greater insight into a rare disease patient’s perspective of interacting with society, with a specific focus on the resourcefulness of healthcare. This experience has highlighted to me the significance of adopting an open and inquisitive approach to all rare disease patients to facilitate the provision of personalised and holistic care, negating the need to have a detailed understanding of each rare ailment. Moreover, with the pandemic acting as a catalyst for telecommunication, technology can be used to bridge barriers and provide more coordinated care for rare disease patients. By recognising the existence of discrimination within marginalised groups, we can encourage equal opportunity for all those with disabilities, either common or rare.
References
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