According to a story from the Milton Keynes Citizen, a local boy named Josh from the Milton Keynes community with the rare lysosomal storage disease Niemann-Pick disease type C will be featured on Countryfile Ramble for BBC Children in Need. The Ramble is a walking event that allows participants to raise money for charity.
About Niemann-Pick Disease Type C
Niemann-Pick disease type C is a form of lysosomal storage disease which is characterized by a deficiency not in an enzyme, but most typically in a type of transporter protein that prevents water soluble molecules from moving within a cell. It is caused by mutations of either the NPC1 or NPC2 gene. There is broad disparity in the severity and presentation of symptoms in Niemann-Pick disease type C, making symptoms an unreliable method for diagnosis. They may appear in childhood or as late as a patient’s sixth decade of life. Such symptoms include spleen and/or liver enlargement, jaundice, severe depression, ataxia, epilepsy, difficulty speaking and swallowing, dystonia, poor muscle tone, bipolar disorder, microcephaly, progressive loss of hearing, progressive dementia, and psychosis. Most treatment is supportive, but there are some medicines that can delay disease progression and prolong life. Lifespan is connected to the onset of symptoms, with those with the earliest symptoms usually dying sooner. To learn more about Niemann-Pick disease type C, click here.
The Countryfile Ramble
For the event, Josh will be heading to the Isle of Skye. The ramble will take place in several different locations, and the Isle of Skye will be covered by presenter Matt Baker. Despite the challenges of Josh’s disease, he retains a very positive attitude and he is very excited to participate in the event. Josh has received critical support from a nonprofit organization called Niemann-Pick UK. This has allowed Josh to receive care from a specially trained nurse, which helps sustain his great attitude and keep the worst of his physical symptoms under control.
The Countryfile Ramble event has been a major success, having raised £4.1 million since it was first held in 2015. BBC Children in Need helps support young people with disabilities, special needs, or otherwise difficult circumstances throughout the country. To learn more about the charity’s activities, click here.