Patient Stories



Age 1st signs/symptoms:  Immediately after birth

Age at diagnosis: 7 days old

Pompe Patient

Within minutes of being born, Benthe was bluish-grey in colour and appeared weak and lifeless. The paediatrician initially thought that she had a respiratory tract infection. When Benthe failed to respond adequately to the prescribed course of antibiotics, she was transferred to Groningen, where the definite diagnosis was made. Benthe was diagnosed with Pompe disease at the age of 7 days old.

About Benthe

Benthe attends a regular primary school. She really enjoys going to school and loves drawing and creating things. She often plays with different class mates, and of course with her younger sister Merle. Benthe has even succeeded in obtaining her first 2 swimming diplomas!


Age 1st signs/symptoms:  5/6 years old

Age at diagnosis: 8 years old

Nynke Pompe Patient

Nynke showed abnormal weight and growth patterns. She did not show any signs of fatigue or muscle weakness. It was a long road from the moment that the general practitioner took the initial blood tests to a definite diagnosis. Further tests and research conducted by the ‘Spieren voor Spieren Kindercentrum’ in Utrecht confirmed the early stages of Pompe Disease.

About Nynke

Nynke is in primary school and has an older sister. She has a super time at school and is a very good pupil. Nynke is fanatical about ballet, ever since she joined. She is performing regularly at the theater. Nynke also takes musical lessons and plays the guitar. She has done gymnastics for a few years and at the age of 6, also obtained her swimming diplomas.