WATCH: Meet the GPS Patient Ambassadors
Boone's smile, positive outlook, and love of life are contagious. But they only came as a result of his long and difficult journey with Type 1 Gaucher disease.
Boone's journey began when he was 5 years old and was diagnosed with Type 1 Gaucher disease. His mother was given news no parent should ever have to hear. As a single mother and dairy farmer, Boone's mother couldn't afford the high cost of the only treatment available. With no other options, she moved her family to Washington State, where she qualified for insurance that gave her access to treatment.
As Boone got older, he began blaming himself for the sacrifices his family had made for him. His guilt, along with his poor health, pushed him into depression and periods of self-destructive behavior. But even in his darkest moments, Boone chose to persevere because of the sacrifices his family made for him. He eventually learned that he alone had the power to turn his life around.
Boone began his journey with ELELYSO in 2010 while participating in a clinical study. Today, Boone manages his Type 1 Gaucher disease with ELELYSO. The GPS program has played a big role in helping him manage his Gaucher disease. His GPS team has helped him coordinate at-home infusions and handle insurance issues.
Because of all that he has learned on his journey, Boone has started an organization that helps raise money for nonprofit organizations, including sponsoring trips for children with life-threatening diseases.
For many years, Martin had no symptoms to indicate something was wrong with him. He lived a normal life. But in his freshman year of college, he experienced fatigue, flu-like symptoms, anemia, and an enlarged spleen. After an initial misdiagnosis, he was diagnosed with Type 1 Gaucher disease.
Treatment wasn't available at the time, so Martin continued on with his life and struggled as his symptoms got worse. He started taking painkillers, which led him down a self-destructive road.
Fortunately, imiglucerase for injection became available. Once on it, Martin’s Gaucher disease symptoms started to improve and later he was able to address his addiction with the help of a 12-step program. Then, a shortage of his treatment supply caused his condition to worsen. Martin knew he needed to do something and his doctor recommended he participate in a clinical trial for ELELYSO.
Now on ELELYSO, Martin is treating his Type 1 Gaucher disease. He is also working to help others in their journey with Gaucher disease.
Michele's life moves at a fast pace. A busy mother of 3 young children and an active member of community arts programs, she has not let Type 1 Gaucher disease stop her. But it wasn't an easy road. There was a time when Michele found even the simplest things too difficult to do because of her Gaucher disease.
Michele was sick a lot as a child, and her mother knew something was wrong. After years of testing, she was diagnosed with Type 1 Gaucher disease at 7 years of age. There was no treatment available at the time Michele was diagnosed. She took to reading and participating only in activities that wouldn't have too much contact. She felt sick all the time. Fortunately, imiglucerase for injection became available and after a few years her body started functioning better. As an adult, she was able to pursue physical activities like dance for the first time in her life. She went on to marry her childhood sweetheart, and now has 3 children.
Then Michele's treatment became unavailable because of a supply shortage. She started to revert back to poor health and felt the world closing in on her, until she talked to her doctor about a clinical trial for ELELYSO. Since being on ELELYSO, her liver and spleen size have remained stable.
ELELYSO and the GPS program have offered Michele support in numerous ways. The Supply Continuity Program gives her peace of mind knowing that the program works to maintain a continuously restocked 24-month supply of ELELYSO for her and all other US patients prescribed ELELYSO. The support she receives allows her to focus on her biggest joy—spending time with her family.
Shy by nature, stepping out of her comfort zone is something Kim P has learned to do. This trait became especially helpful throughout the years as she took on Type 1 Gaucher disease. She quickly became her own advocate and hopes that she can help others do the same.
Kim's Gaucher disease went undiagnosed for years. In a great deal of pain and constantly fatigued, she received misdiagnosis after misdiagnosis. She pushed to find an answer and was finally diagnosed with Type 1 Gaucher disease. Once on enzyme replacement therapy, imiglucerase for injection, Kim started doing better until her treatment supply was halted because of a shortage. Once again, Kim looked for answers, and she and her doctor decided to have Kim participate in an expanded access program for Gaucher disease. GPS helped Kim successfully transition to ELELYSO, which has helped her continue to manage her disease. Her tests for platelet and hemoglobin counts, as well as liver volume, show she has remained stable on ELELYSO.
Kim is an active member of the Gaucher community and stays on top of the latest research developments and articles to educate herself.
As a GPS Patient Ambassador, Kim wants to encourage those with Gaucher disease to be their own advocate when it comes to their health.
Years of misdiagnoses and misinformation left Kim R feeling isolated and alone. Now, with GPS on her side, Kim feels empowered, knowing she isn't in this alone.
Throughout her life prior to being diagnosed with Type 1 Gaucher disease, Kim always felt "half alive." Over the years she was misdiagnosed and even told it was all in her head. This left her feeling isolated and alone.
Once diagnosed, Kim was relieved. But her family had a difficult time accepting and understanding her condition. When she reached out to an aunt who also had Gaucher disease, she told Kim that her doctor had surgically "removed the Gaucher." Her aunt passed away shortly thereafter. Kim was determined to get treatment and start living her life.
After years of receiving one form of treatment, imiglucerase for injection, her treatment became unavailable during a supply shortage. Then, Kim had the opportunity to participate in a clinical trial for ELELYSO. Since switching to ELELYSO, her Gaucher disease symptoms have remained stable.
Today, Kim has turned her experience in helping herself into a life helping others. She is currently Program Director for an organization that helps underprivileged children, and takes great joy in her roles of mother and grandmother.
As a GPS Patient Ambassador, Kim hopes to help others realize that Gaucher disease does not define them. She believes that their experience can be channeled to enrich their own lives.