Shortly after he was born, Asa Burnside was diagnosed with Niemann-Pick disease type A, a rare genetic metabolic disorder. Since then, Asa has brought so much joy to his family’s life and his family has always been willing to do whatever they needed to help him. According to an article at the Northern Echo, Gilbert Maguire, two-year-old Asa’s uncle, wanted to help by not only raising awareness, but raising funds.
On his JustGiving fundraiser page, Gilbert explains:
I would like to encourage others to take notice and shine a light on this rare disease. All donations raised will go directly to Niemann-Pick UK (NPUK) [as] alongside providing support and care for those living with or affected by Niemann-Pick, NPUK provides information relating to research.
In mid-June 2022, Gilbert walked 100 kilometers (approx. 62.13 miles) to help raise funds for NPUK. Around the halfway mark of his walk, Gilbert was even joined by over 100 people. While not all of them stayed for the entirety of the walk, Gilbert was thrilled by the support and love that he saw – not just for himself, but for Asa.
After 21 hours and 26 minutes, Gilbert completed his walk. He also helped to raise over £100,000 (approx. $118,676) for NPUK. If you would still like to contribute to Gilbert’s mission, you may donate here.
What is Niemann-Pick Disease?
Niemann-Pick disease refers to a group of rare and often severe genetic metabolic disorders. There are three main forms of Niemann-Pick disease: types A, B, and C. Since Niemann-Pick disease is a variable disease, symptoms and disease onset vary based on subtype. However, in each case, the disease is characterized by an inability to metabolize lipids or cholesterol within cells. As a result, sphingomyelin begins to build-up in cells, causing a variety of issues.
SMPD1 gene mutations, which cause sphingomyelin activity deficiency, cause forms A and B. Alternately, NPC1 or NPC2 gene mutations cause Niemann-Pick disease type C (NPC). As these mutations are inherited in an autosomal recessive pattern, patients must inherit one defective copy from each parent.
Again, symptoms vary based on subtype. However, possible broad symptoms can include:
- Appetite loss
- Thrombocytopenia (low platelet counts)
- Slurred speech
- Impaired eye movements
- Abdominal distention or enlargement
- Intellectual or developmental regression
- Difficulty swallowing
- Enlarged bone marrow cavities
