WHAT'S GOING WRONG?
In a metabolic disease, something goes wrong in the body's chemical factory in metabolism. An essential enzyme is often missing, which means that the body does not absorb nutrients properly or does not break down waste products properly. With serious irreversible damage to the organs, such as the heart, brain and nervous system. It can happen to any family, because the deterioration is caused by one small mistake in the DNA of the parents.

A metabolic disease or metabolic disease can only be stopped with early diagnosis and treatment.

ERRORS ON GENES
Anyone can get a metabolic disease or metabolic disease. A child with a metabolic disease usually receives an abnormal gene with minor errors from both parents. The parents are not sick themselves and unfortunately often do not know that they are carriers. Because of the mistake in the DNA, they have a 25% chance of having a child with a metabolic disease with every pregnancy. The disease often only appears after birth, sometimes immediately, sometimes later, and in some cases only during puberty.

EARLY DIAGNOSIS NEEDED
Every other day, a child is born in the Netherlands with a metabolic disease. A small number are found within a few days with the heel prick, but many families have to search for years for a doctor who can determine what their child has, even in the Netherlands. Meanwhile, the sick child's body continues to deteriorate.

Early diagnosis is vital, but it is not enough. Even knowing what your child has does not always mean there is treatment. Of the 1,500 metabolic diseases, about 15% have treatment. For the vast majority of these diseases, doctors and practitioners cannot stop the decline.

RESEARCH IN GENE THERAPY
Doctors and researchers at Erasmus MC are developing the groundbreaking gene therapy, the 'cure' for several metabolic diseases. Do you want to make a direct donation? Then click on the button below.