Leanna Mullen knows what it’s like to look absolutely normal while in reality being very sick.
She has Gaucher disease, a rare inherited condition where the body can’t break down fat because of an enzyme deficiency (glucocerebrosidase) in the body. Symptoms can include anemia, osteoporosis, easily broken bones, fatigue, and nose bleeds.
Mullen describes being so fatigued that she would come home from school at 3:00 in the afternoon and go straight to bed, and eventually, she became unable to walk–but she didn’t give up trying to figure out what was wrong.
After many, many tests, she was diagnosed with type 1 Gaucher disease at the age of 15 and received financial assistance from the National Gaucher Foundation (NGS) so that she could undergo treatment. Years later, she has regained her ability to walk. The NGS also funds research with the hope of one day finding a cure.
Gaucher disease is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.
Mullen, who is now in her late 20s, is very grateful for all the help she has received, and wants to get the word out that help is available for Gaucher patients through the NGS.
