Time to diagnosis is always a problem

for rare diseases

but this is not only the case in Bulgaria, but all over the world

everyone has problems with delay of diagnosis

A disease is rare when it affects less than 1 person in 2000 people

We have an extremely big number of rare diseases

more than 8000 nosological units

The treatment that is offered is enzyme replacement therapy

For 10 years now in Bulgaria there is prevention and it can be said that I am already a normal person

I am not limited to what I want to do and I do what I want

The current trend for the treatment of this disease

is to achieve a survival rate which is almost close to normal

Being ill does not prevent you from starting a family

to have a normal life

Apropriate treatment eliminates all negative effects of the disease

I feel normal like everyone else

after the treatment

I have a life to live, I have a child to care

I have a husband who needs me and friends.

Like all of us