Written by Tom Renner, Ridgefield Daily Voice:
RIDGEFIELD, Conn. — Meg and Drew Whitbeck of Ridgefield reacted differently when they learned in February that their one-year-old son, Luke, suffered from a rare genetic disorder, Gaucher Disease.
Gaucher Disease is a rare disease that causes fatty lipid deposits to build up in some organs and bones. It results from not having an enzyme, glucoerebrosidase, that breaks down a fatty chemical, glucocerebroside. Fat-laden Gaucher cells build up in areas such as the spleen, liver and bone marrow.
Last month the National Gaucher Foundation reached out to me with a few questions to answer for their new “Patient Journey” blog series. I shared some details in that post that you may not have known about already; I mention my incredible care team, the wonderful Gaucher family I have made online, and more!
Please check it out and let me know your thoughts!
Meet Lauren: Gaucher Disease Patient Journey
It was an amazing opportunity to be able to sit down with Rare Disease Report to talk about my experience with Gaucher Disease, as well as to be recognized as the founder of Gaucher Stories. Though my platform is small right now, I will continue to use it to spread awareness because the more people know about it, the less misdiagnosis we will have.
See some clips of my interview on Rare Disease Report’s website.
See all of the clips from my interview on the Rare Disease Report Youtube page.
Emma’s Garden: Growing with Gaucher is one family’s global journey with Gaucher disease. The 10 minute digital story was launched by the National Gaucher Foundation of Canada, in 2013, at the Lysosomal Disease Network WORLD Symposium.
Emma’s Garden was produced by Emma Rooney and illustrated by Megan Rooney. Emma lives with type 1 Gaucher disease and she prepared her digital story as a gift to her family and all the incredible people who have contributed to her growth and well-being.
Our Little Miss Hannah was born on July 25, 2008. She was 6 pounds 11 ounces and 19 inches long and looked perfect in every way. Two days after birth, an enlarged spleen and extremely low platelets raised the first hint that our perfect baby had some differences. She was admitted to the NICU for two weeks while medical experts tried to find an explanation for her symptoms. Once the easy diagnoses were ruled out, her daddy and I knew that we were going to fight to get her the best care.
At 5 months old, her liver became involved, and she was diagnosed with Neuronopathic Gaucher’s Disease type 2 or type 3, an incredibly rare and life-limiting genetic metabolic disorder.