Today, 28th February, is Rare Disease Day. This is the day we give extra attention to all the people living with a rare diagnosis, in order to raise awareness.
Rare disease and isolation
According to Jo Balfour, Events Manager at Cambridge Rare Disease Network, one of the most common problems for children who suffer from rare diseases is social isolation.
“Children with rare or undiagnosed conditions commonly miss a lot of school due to illness and know few, if any, others who have the same condition,” Balfour says.
Three main challenges
Balfour mentions the three main challenges children face, all of which contribute to their social isolation. Firstly, the diagnostic journey can be long, and frequently entails several misdiagnoses before reaching the correct rare disease diagnosis. Remaining undiagnosed can be a lonely and confusing situation.
Secondly, the frequent hospital visits and admissions (often to clinics far from where you live) results in missed education, missed involvement in clubs or activities, and less time with friends.
“Children in care often move frequently, and are left with no school place for weeks or months, receiving little education whilst a new school placement is agreed”, Balfour says.
Lastly, poorly coordinated care is a major issue for these patients: barely 13 percent are given someone to fulfil a care coordinator role. In comparison, 90 percent of people with cancer are given a care coordinator (Rare Disease UK, 2013).