Meet Jesse and his family. He is a fun, loving big brother, silly and sensitive 8-year-old boy. Some of his favorite things to do are ride his bike, swim and play with his friends.
Jesse’s medical journey started when he was 5-years-old at his doctor check up. He was gaining weight quickly, despite a well balanced diet and exercise, and his muscle development couldn’t keep up. He would get tired quickly, too.
Many, many tests later including ultrasounds, visits to a GI doctor, neurologist and a neuromuscular clinic, the family eventually learned he has a very rare muscle condition called Pompe Disease, juvenile onset. Pompe disease is a rare, inherited and often fatal disorder that disables the heart and skeletal muscles.
Day to day, Jesse is doing well. He receives Enzyme Replacement Therapy (ERT) biweekly via 4-hour infusions. Jesse had a port placed this past September and can now receive home infusions.
All the observations his family once questioned, such as coordination and gross/fine motor abilities, has improved. Jesse still fatigues easily, but is determined to keep up with his friends.
When asked what she wishes for her son, his Mother said, “My wish for Jesse, and all who suffer Pompe Disease, is a cure. But until that cure is found, I wish for Jesse to remain stable as he is. He is ambulatory, and he is responding well to treatment. I wish for him to enjoy life to the fullest, and exceed all his wants and expectations in life.”
A big thank you to Jodi Chandler of http://www.jodichandlerphotography.com for donating her time and talent.