According to a story from Gaucher Disease News, life for 24 year old Madeline Collin, who has Gaucher disease, has never been easy. However, being subject to bullying and a steady stream of dreary news from her doctors has not dampened this young woman’s spirit. Aiming to be a source of hope for other patients, Madeline recently gave a speech about her experiences at the 2nd International Congress on Advanced Treatments in Rare Diseases, which was held in Vienna, Austria this year.
Gaucher Disease
Gaucher disease is a genetic disorder which is most characterized by the abnormal buildup of the substance glucocerebroside in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy, Miglustat, and Eliglustat. To learn more about Gaucher disease, click here.
Madeline’s Story
In her address, Madeline talked about three challenges that many rare disease patients can relate to: an uncertain future, a challenging and drawn out diagnostic process, and mental health struggles. She was first hospitalized for her disease when she was just 17 months old. Madeline has type 3 Gaucher disease and is one of only about 30 patients with this type in the UK.
Her need for extra support led to frequent ridicule during grade school and the separation of her parents, who eventually both remarried, heaped even more stress on her, leading to struggles with depression and anxiety. When she was 16, Madeline tried to take her own life. Doctors told her parents she would die young and would never be able achieve anything of significance.
Now Madeline has defied those grim predictions and is in the process of completing a master’s degree at the University of Bath. She ended her talk by calling for greater awareness, understanding, and compassion towards patients with Gaucher disease and other rare illnesses.
