Benny

• 2017
• Germany
• VPS4a

Our son Benny is 6 years old.

We live in the south of Germany, which is close to the Austrian border. Benny is our only child, and he is beautiful very warm hearted and a sweet little boy who loves cuddles, noises and exercising. Benny struggles to do anything for himself due to the condition called VPS4A de novo gene variant.

Benny enjoys being social, enjoys horse riding and relaxing in warm water which makes his body relax from his movements.

When he was 4-month-old, Benny was showing signs of being very troubled and we ended up with multiple visits to different hospitals. Benny’s epileptic seizures started visibly at 10 months old followed by our first epilepsy treatment and required rehabilitation. Unfortunately, everything ended up being worse. We lived more than 3 years without sleep, heavy seizures and desperately fighting for any little step forward to prevent orthopedic malalignment.

Benny is now diagnosed as blind but loves every lit of the sun in his face and gets great engagement from people being close to him. If he likes something he laughs which is so heartwarming and if he doesn´t like something he can become very upset.

In August 2022 we got the diagnosis of VPS4a de novo variant, so know we know the condition that we must fight against.

He is still not able to sit, stand, walk or even to turn from the back to the belly and will need help for every part in his life forever.

We love him so much and we will fight for everything that can help or improve the situation.