Our goal is to make metabolic disorders cureable. To reach our goal, we create awareness and raise money for research. But, what is a metabolic disease?
Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.
Our daughter Nanoek suffered from the metabolic disorder 'Tay-Sachs'. This means one of her enzymes in the lysosomes is not enough present. The 'missing' enzyme should have been breaking down 'trash' on a molecular level in the brain. Except, since there is lack of this enzyme, this did not happen the way it should. This resulted in the 'trash' hoping up in her brain, which blocked certain functions. More and more trash stacked up in her brain, so more functions kept being disabled.
Of course, this is a simplified way of explaining. When googling on the disease more information can be found. For our Nanoek the disease meant that where she was once able to, she could not not talk, walk, communicate, learn or eat later on. Even though all of this, Nanoek was a very happy person and we always made sure she could experience a lot of fun things together with us.
Do you want to support our team? This is possible. Fill in the contact form by clicking the bar all the way on top if you want to discuss a fun idea. If you want to be our sponsor, it is possible to get your company logo on our biking-shirt. Read the (Dutch) information on the 'sponsoring' tab, or send an email for English information. If you want to donate a certain amount of money that goes to research, click the button below!