According to a story from the Tenterfield Star, a fundraiser was recently held for Tommy Johnston, a one year old boy who was diagnosed with the rare Niemann-Pick disease type C. Parents Pip and Paul were devastated by the diagnosis, but the funds raised from the auction-style event will help go towards getting access to treatment for the youngster.
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.
A Community Comes Together In Support
The auction was a real effort of the Tenterfield community. Held at the Tenterfield Golf Club on January 20th, the proceeds from the auction are projected to be in excess of $40,000. Laynee Taylor was the head organizer for the event, but she received a lot of help from other community members. A total of 175 lots were auctioned off during the event.
While Niemann-Pick disease type C often prevents patients from surviving beyond their teens, the funds from this event will go towards getting Tommy access to useful therapies that could slow the progression of his disease and allow him to live for considerably longer.
Needless to say, the Johnston family were overwhelmed and amazed by the support displayed by the Tenterfield community for Tommy.