Specifically, a barrier noted is the distinct lack of awareness among healthcare professionals concerning referral to appropriate specialists. In some cases patients, were not referred at all. Providing training on dealing with unusual symptoms and making resources available that describe the referral process may offer a solution. ASUK is regularly the first point of contact; but this is dependent on independent research and families’ confidence to reach out.

Health inequalities are growing in the UK. A report published by the NHS Race and Health Observatory gathered evidence to illustrate ethnic inequalities in healthcare [10]. The most diverse and marginalised communities tend to be at the greatest disadvantage in accessing healthcare. Its findings have shown that people who are from diverse and marginalised communities and affected by a rare or genetic condition, often experience a huge disadvantage in areas such as genetic testing, mental health, and access to healthcare services.

Our research has identified similar findings - we noted a considerable variance in the ‘patient experience’ in terms of access to quality, effective care, and the speed of diagnosis. This variance linked to factors such as ethnicity, education level, awareness, accessibility, and patient place of residence appears to demonstrate further barriers to a timely diagnosis. Often education plays a role with people from a lower socioeconomic background disproportionately affected.

Being from an isolated, rural location has given patients with AS limited resources, with diagnostic capabilities available restricted to large hospitals. From our sample, patient 4 was based in a rural and remote area of the UK, where expertise in AS, or rare conditions in general, may be limited. This resulted in a particularly challenging journey to diagnosis. Parents feel they received substandard medical care from their local hospital due to inconsistent practices, and a lack of medical staff with specialist skills to provide effective treatment and appropriate referrals. Only due to the persistence of the parents, was patient 4 referred to a larger hospital to be assessed by appropriate specialists. It was at this hospital that the patient was finally diagnosed.

Stigma surrounding certain cultural practices can strain families’ rapport with healthcare professionals. Certainly, in consanguineous relationships, parents can attach blame to themselves and opt out of genetic testing due to fear of judgement. One family shared their uphill struggle in seeking a diagnosis. Sadly, this family felt they were at risk of being blamed for their child’s condition. The parents were related by blood and acutely aware of the stigma surrounding consanguinity. Due to their lived experience and the perceived lack of cultural competence among medical professionals, parents do not feel that engagement and communication between them and healthcare professionals has been positive. Therefore, they have opted out of having genetic testing (although their child has received a clinical diagnosis). Cultural competence is improving amongst clinicians, and more so than ever they are aware of the diverse practices and worldviews individuals may have.

More recently the COVID-19 pandemic has impacted multiple families. Over half of the families included in this sample reported delays they believed the pandemic had caused in access to treatment, diagnosis and support. Even after the lockdown, many face-to-face consultations were cancelled, compounding feelings of worry, anxiety and isolation. A byproduct being the missed opportunity for diagnosis and counselling of patients in person. The ability to communicate directly with healthcare professionals was diminished.

On the other hand, some positives have come about as a result. The burgeoning area of telemedicine has enabled families to negate long-distance travel, and be seen in a comfortable environment [9]. Acceleration in this area should prevent the troubles associated with getting to appointments due to mobility and vision issues.