This week’s blog is written by Jenny Wei, one of the shortlisted candidates from The 2021 Student Voice Prize who answered the question centered around rare diseases and health inequalities:
350 million people worldwide are affected by rare diseases. 3.5 million of these are in the UK. These patients are commonly subjected to health inequalities. Explore this by choosing an example of a rare and a common disease, from the same speciality, to compare and contrast. Discuss the causes underlying these inequalities.
Jenny compared the diseases Primary Ciliary Dyskinesia (PCD) and Cystic Fibrosis (CF) for her essay. There couldn’t be a better time to share her essay and its learnings, as Cystic Fibrosis awareness week is fast approaching on 13 – 19 June 2022.
Without further ado, read Jenny’s essay below and share!
What is The Student Voice Prize?
The Student Voice Prize is an annual international essay competition run by Beacon and Medics4RareDiseases that raises the profile of rare disease within the medical field, particularly with medical students, nurses and scientists who may have never come across rare diseases in their training.
Although the competition doesn’t return until autumn 2022, we wanted to keep bringing attention to some of the awesome entries from last year, such as Jenny’s!
There are approximately 7,000 rare diseases affecting approximately 350 million people globally.  Rare disease patients experience unique barriers to obtaining timely and evidence-informed care.  PCD is a rare, usually autosomal recessive disease resulting in the malfunction of cilia, the hair-like structures which sweep mucus from the respiratory tract and play a role in reproduction.  PCD occurs in approximately one in every 10,000 individuals in the UK.  Symptoms of PCD begin shortly after birth and are characterized by a wet cough, neonatal respiratory distress, bronchiectasis, rhinorrhea, chronic sinus, ear, and lung infections, fertility issues, and organ laterality defects including situs inversus. [3,4] CF on the other hand occurs in one in 2,500 births in the UK and is caused by a genetic mutation which affects the cells that produce mucus, resulting in thicker and stickier secretions. [5,6] The respiratory symptoms of PCD and CF are very similar despite the diseases having entirely different causes. 
I was introduced to P through the Student Voice Prize Patient Pairing Scheme and she shared her experience of living with PCD with me. As a newborn, P was kept in the hospital for an extended time due to her neonatal respiratory difficulties. She was first misdiagnosed with asthma. Her mother advocated and fought for her to get a diagnosis that encompassed all her symptoms but found that healthcare providers were unable to determine a better diagnosis and were reluctant to change their original diagnosis. Ultimately, P was diagnosed with PCD at age nine. The bottom third of her left lung remains completely blocked due to the irreversible damage resulting from a delayed diagnosis.
Rare disease patients and families are often forced to advocate for their (or their child’s) care by becoming experts on their disease.  Many patients develop distrust in the medical system and lose faith in finding the right diagnosis.  P states that her mother often felt like a nuisance to healthcare providers when having to fight their diagnoses and push for more answers. Yet, rare disease patients and families have no choice but to take matters into their own hands and advocate for better care. While it is intuitive that common diseases are the focus of medical school curriculums and physicians develop more knowledge about diseases they encounter frequently, there is no denying that this system is failing rare disease patients.
The challenge of diagnosis
Early diagnosis is critical to the quality of life for patients with rare diseases. For people with
PCD, delayed diagnosis may result in bronchiectasis, unnecessary infection, loss of smell, and damage to eardrums.  Despite what is at stake, PCD is often misdiagnosed or undiagnosed.  P’s diagnosis boiled down to luck and chance – there just happened to be a doctor who knew about this rare disease and how it manifests. These unpredictable factors result in a median age of diagnosis of 9.8 years. 
The term “postal code lottery” describes disparities in the quality of treatment based on where someone lives.  For many patients with rare diseases, their odds in this lottery are even lower since there are few specialists worldwide and there is a lack of awareness of their disease. P felt betrayed by the healthcare system’s unfamiliarity with PCD which resulted in the failure to diagnose until irreversible damage had occurred. The quality of life of patients with rare diseases should not be left up to luck.  Being in and out of hospitals frequently as a child, P felt that her childhood was taken away from her.
In stark contrast, CF is diagnosed at a median age of 7 months.  This is because newborn screening for CF is performed in many countries, allowing CF to be diagnosed before any symptoms even arise.  Healthcare providers can then guide parents through strategies for keeping their child as healthy as possible. Improved clinical outcomes have been observed due to this screening.  Conversely, PCD diagnosis is far more complicated. Only a limited number of hospitals are equipped to diagnose PCD,  and there is no perfect way to diagnose it.  Currently, diagnosis is made using medical history and a combination of tests including cilia biopsy and nasal nitric oxide (nNO) tests. [15 ]Ciliary biopsies require specialized equipment and highly trained clinicians for interpretation of results. [14, 15] However, some people with PCD exhibit no apparent ultrastructural defect and nNO tests are prone to false positives.  For these reasons, general screening cannot be conducted and a comprehensive set of diagnostic tests are needed to make an accurate deduction. Therefore, identifying patients that require testing is critical to achieving early diagnoses.  This heavily relies on medical professionals being aware of PCD symptoms and referring patients to the proper clinics to receive a diagnosis.
Disparities in treatment and research for rare disease therapies
Rare diseases are subject to particular obstacles in the research, development and commercialization of treatments,  and only five percent of rare diseases have an approved treatment method.  Due to the commonalities in the symptoms of PCD and CF, many management strategies for PCD are extrapolated from CF treatments, which have been widely tested and proven.  However, it has not been determined whether CF treatments are truly the best option for PCD patients.  PCD-specific treatments need to be developed to target the unique pathophysiology of this rare disease and provide patients with the best standard of care possible. However, research for rare diseases treatments is limited by the low prevalence of the disease and the geographical scattering of patients across the globe.  Thus, PCD studies are typically observational studies with small sample sizes and limited follow-up periods.  The challenges of designing rare disease studies that yield statistically powerful results are a major deterrence to researchers.  Consequently, there are currently only 51 studies on PCD globally, only 10 of which are interventional clinical trials.  For CF, there are 1319 studies, of which 938 are clinical trials and 788 have been completed.  These numbers are indicative of the inequalities in development of treatments for rare versus common diseases.
P emphasizes the importance of PCD foundations in spreading awareness of clinical trials for the
disease. Research participants are primarily drawn from people associated with PCD foundations, making it critical that healthcare professionals refer patients to these organizations as early as possible. These foundations also build networks with hospital staff to raise their awareness about PCD. Despite both diseases being discovered around the same time, the first CF foundation was formed in 1955,  and the first PCD foundation not until 1991.  Rare disease foundations continue to push for more awareness within the healthcare field and in the general
public to address the inequalities between rare and common diseases.
Thriving with PCD
Managing illnesses extends far beyond the clinic. While efforts to improve treatments and diagnostics for PCD are vital, people with PCD also need guidance and support to navigate everyday experiences. There are very few pastoral services for people with PCD that consider the socioemotional components of this disease. This is in contrast with CF, which benefits from greater funding and awareness. CF blog titles encompass a variety of topics from “11 Haikus to help you laugh about CF” to “ Top 10 Tips for Road Trips with your child with CF.” For rare
disease patients, however, the difficulty in finding communities of people who share the struggles of their illness can contribute to feelings of isolation. P remembers entering the doctor’s office crying and in dire need for a community to provide guidance only to find that they were unaware of resources to direct her to. P reflects that there is an “appetite for content about the PCD experience” that can help people affected by the disease not only survive but thrive. P became a member of PCD Support UK two years ago and had her first open conversation about her condition when discussing the “embarrassing moments” associated with having PCD. “It was the most connected I had felt in a long time,” P expresses. Having the opportunity to share these experiences with those who understand and relate cultivates a sense of community and belonging.
Bridging the gap
To address the inequalities discussed, federal regulations, rare disease foundations, and technological innovations play a vital role. Some countries have already implemented legislative strategies to incentivise development of rare disease therapies and many countries are working on such plans.  Additionally, the progress rare disease foundations have made to facilitate open conversations about the socioemotional aspects of rare diseases have major impacts in helping people cope with their condition. Lastly, innovations in health monitoring technologies that allow patients to collect data at home can break down some barriers to recruiting patients for studies.26 Further progress in these areas can reduce the inequalities in median diagnosis age, access to disease-specific treatments, availability of community support, and abundance of research studies between PCD and CF.