Age 1st signs/symptoms: Immediately after birth
Age at diagnosis: 7 days old
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.
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 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.
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.
Interested in more patient stories?
Read more here about other patients with Pompe disease.