A woman has endured symptoms including headaches, visual disturbances, back pain, tremors, muscle spasms and sleeplessness since her teenage years, but claims she faced difficulties obtaining treatment or a diagnosis through the NHS.
It wasn't until 2021 that Jo Sinclair, 40, received a private diagnosis in London for hypermobile Ehlers-Danlos syndrome, atlantoaxial instability, dystonia and mast cell activation syndrome.
Ms Sinclair, from Glasgow, has at times been predominantly confined to bed due to pain, exhaustion and instability, and maintains that insufficient NHS treatment options and expertise has resulted in continued trauma.
Call for a Pathway of Care
She has urged for a "pathway of care" to be established to provide improved support for patients.
Ms Sinclair, a medical secretary at the Queen Elizabeth University Hospital in Glasgow, explained: "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."
"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."
"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."
"GPs should be the first line to diagnose the condition and make the immediate necessary baseline referrals to genetics, cardiology, rheumatology and physiotherapy and provide meaningful advice on self management and lifestyle modifications."
"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
Scottish public health minister Maree Todd commented: "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."
"Through Scotland's rare disease action plan, we are taking forward actions to improve support for people with Ehlers-Danlos syndromes and hypermobility spectrum disorders."
"This includes work to improve diagnosis, through education and increased awareness among healthcare professionals."
