Today is Rare Disease Day

2/28/2017

Today, 28th of February, is Rare Disease Day. This is the day we give extra awareness of all the people living with a rare diagnosis. 

Rare disease and isolation

According to Events Manager at Cambridge Rare Disease Network, Jo Balfour, 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 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. Being undiagnosed can be a lonely and confusing situation.

Secondly, the frequent hospital visits and admissions, often to clinics at a long distance from where you live, results in missed education and times 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 and receive little education whilst a new school placement is agreed”, Balfour says.

Lastly, poorly coordinated care is a major issue for these patients: barely 13 % are given a someone to fulfill a care coordinator role, in comparison 90 % of people with cancer are given a care coordinator (Rare Disease UK, 2013).


Sources: 

Rare Disease UK (2013). “Rare Disease Care Coordination: Delivering Value, Improving Services”.