And then it all changed…

How happy we were on November 10, 2014, when you were born. After Wesley you made our family complete.

Evi developed like any other child until she was a year and a half. She was busy with walking, running and dancing all day long. Evi actually fell a lot, we thought it was because she didn’t have enough rest. We also noticed that she no longer learned new words. We shared our concerns with various childcare consultants and always received the same answer: she is a bit lazy, she will get there, she will be ok. But she wasn’t.

In 2018, everything changed. On January 19th, the air ambulance had to come for the first time because Evi’s body went stiff and her heart slowed down. They could not find a cause. On February 1st, Evi had her first epileptic seizure that lasted about 20 minutes. Because she ended up at the Radboud UMC twice in such a short period of time, they decided to proceed with genetic testing. On April 24th, the neurologist called to inform us that Evi is diagnosed with a very rare metabolic disorder called ‘Cln type 2’ and there is incurable. All of a sudden, our fairytale turned into a nightmare. Evi has a life expectancy of 8-12 years and she has to deal with the terrible process of severe deterioration. Evi is one of the six children in the Netherlands who has this terrible fatal metabolic disease.

Now, Evi goes biweekly to the Sophia Children’s Hospital in Rotterdam for an enzyme treatment that can slow down the disease and the deterioration process. During this treatment, an artificial protein is injected directly into her brain chambers through a drain. Whether it will help Evi, we do not know yet.

Evi is getting worse every day. Out of the 16 words she spoke, she now only knows 7. It is getting more and more difficult to walk for her, she falls a lot and suffers from spasms. The epilepsy seizures are increasing in intensity. After an epileptic seizure, Evi goes blind and she is paralyzed for hours on the right side of her body. She also develops difficulty with swallowing and eating.

Unfortunately, we are now faced with unforeseen costs that are not covered by the insurance or government agencies. We will use your donations to cover care costs, legal support, adjustments needed at home and for a wheelchair bus. We also want to contribute to research into metabolic diseases including Cln type 2.