Jo Sinclair, a 40-year-old medical secretary from Glasgow, has called for an end to the postcode lottery in treating her rare illness after waiting years for a diagnosis and struggling to find a specialist on the NHS in Scotland.
Years of Symptoms and Delayed Diagnosis
Jo experienced symptoms including headaches, visual problems, back pain, tremor, muscle spasms, and insomnia from her teenage years but struggled to receive an NHS diagnosis or treatment. It was not until 2021 that she was diagnosed privately in London with hypermobile Ehlers-Danlos syndrome (hEDS), atlantoaxial instability, dystonia, and mast cell activation syndrome.
Jo has at times been largely bedbound due to pain, fatigue, and instability, and she said a lack of NHS treatment options has caused ongoing trauma. She has called for a “pathway of care” to be created to give better support to patients.
Call for Mandatory Training and Care Pathways
“This is a multisystemic condition which requires service users to see several specialists in a timely manner to avoid significant deterioration and debilitating symptoms leading to loss of independence, unemployment and lack of social life, extreme emotional distress and poor quality of life,” Jo said.
“In Scotland there is a lack of trained specialists, and it is a postcode lottery on whether you can receive the care and treatment required. Most patients are seen and discharged with no treatment for their conditions.”
She added: “It is beyond imperative that GPs and specialists are required to undertake mandatory training to recognise the complexities that come with the condition to recognise, diagnose and offer treatment modalities so that patients can lead a meaningful, fulfilling life and contribute to society. There should be a pathway of care created so that patients are not left to fall through the gaps in the system, with clear treatment guidelines to be seen by knowledgeable specialists.”
Government Response and Study Findings
Scottish public health minister Maree Todd said: “We recognise the importance of timely diagnosis and the positive difference it can make for people living with Ehlers-Danlos syndromes and hypermobility spectrum disorders (hDS). Through Scotland’s rare disease action plan, we are taking forward actions to improve support for people with hEDS and HSD. This includes work to improve diagnosis, through education and increased awareness among healthcare professionals.”
Jo spoke out after a study revealed that some people with hypermobility conditions wait up to 21 years for diagnosis. The University of Edinburgh-led study of more than 2,000 people found they waited an average of 19 to 21.7 years for diagnosis. In Scotland, one in seven has to leave the country to get a diagnosis.
Kathryn Berg, trial and research manager at the university’s Institute of Genetics and Cancer, said: “This study highlights the profound impact hEDS and HSD can have across every aspect of life. Our findings show the urgent need for equitable, multidisciplinary care pathways that recognise the complex and multisystemic nature of these conditions.”
