CATHARPIN, Va. (WDVM) — Catharpin resident Meghann Ferguson is trying to bring national awareness to Niemann-Pick disease type C1, a rare genetic condition that only has 500 known cases world wide.
The disease affects the body’s ability to metabolize fat. This collection of fat can lead to enlargement of the liver and spleen and can cause difficulties with fine motor skills and cognitive impairment.
These are the symptoms that Meghann noticed when her son Liam was born, just 24 hours after his birth. Liam was also in liver failure, and the Ferguson’s were looking into a liver transplant.
“We heard the words that we were being told — genetic, degenerative, fatal — those types of words, and they really hit hard,” she said.
Since Liam’s diagnosis, Meghann has been an advocate for Niemann-Pick disease nationally. She joined the board of the National Niemann-Pick Disease Foundation and has had multiple speaking engagements.
“One was at the Georgetown University Hospital, and then we also spoke at a gene therapy company in North Carolina. I was also able to present his story at the NNPDF Conference, which is the national organization for this disease,” Ferguson said.
The goal is to bring more awareness to the disease, since it is so easily misdiagnosed and difficult to recognize.
“The more that people are aware that this condition exists, then I think that doctors, when they see it, will think about it as a possibility,” she said.