Faelin’s story

Faelin’s journey to ‘healing’  

Faelin is a girl born in the spring of 2017. With her dark blonde curls and contagious smile, she is a ray of sunshine. Faelin loves to get creative, dance, sing, and make jokes. She is crazy about Blippi, juf Roos, mini disco, eating fries, baking cookies and playing with her sister. Her favorite plushy Ax (from Difrax) is always by her side.  

Unfortunately, these fun facts are overshadowed by the bad effects of a rare gene mutation. A mutation wich causes disturbances in her system. Because of these disturbances, Faelin suffers from a non-treatable, life-threatening form of epilepsy. There is a fair chance that she will die, as a consequence of a seizure or SUDEP (sudden unexpected death in epilepsy). One out of five children with this specific mutation will not live to reach adulthood. 

The seizures Faelin suffers from, last long and are difficult to stop. During a seizure, her saturation (oxygen in the blood) drops strongly. A saturaionlevel of 14% during a seizure is no exception. As parents, we have to act immediately by administering medication and calling 112 (emergency services). Faelin will be hospitalized. We cannot pass off this responsibility onto other caregivers. In addition to these visible seizures, Faelin also has less visible ones. Even doctors cannot notice them without a monitor. We have saved Faelins life at least 40 times; some of these times she was put in a medically induced coma.  

Viral infections, fever, overstimulation, enthusiasm, strong emotions, fatigue, structures of wavy water, and vaccinations all trigger seizures. Also, Faelin is heat sensitive, which means that cold, heat, and sudden changes in temperature can cause epileptic seizures. Because of alle these triggers, we have no other option than to minimize the chances of a seizure. We do this by living isolated, which we have done for over two years. A bit like everyone has been doing during this covid pandemic.  

Living in isolation is a difficult situation to be in as a family. We have to be on high alert 24/7 and be ready to act every single minute of every day. The medications Faelin takes are her last chance for a somewhat stable life. However, the doses she takes cause awful side effects, for instance struggles with speech: Faelin often gets frustrated because she wants to speak properly, but is not able to. The same thing goes for her gross motor skills. She is often down and lethargic. Sometimes she lies on the couch for entire days and can only be cheered up by our three cats and her favorite tv shows.  

It seems like a hopeless, gloomy situation, but fortunately, there is hope! We have come across some great minds in the United States: a team of scientists of Stoke Therapeutics who have developed a drug that can ‘heal’ the function of the defective gene! What? Yes, really! The function of the defective gene is replaced by overstimulation of the healthy genes, which causes the clinical picture to diminish, or even disappear.  

At this moment a trial has started in which children with the same mutation and clinical picture as Faelin are being treated. The children have to meet strict conditions. We have had contact with the study director of this project, and Faelin will be participating this trial in phase 3 (2024-2025).  

Faelin can participate!  

We received a list of American hospitals that can give this treatment. UCSF, a big, specialized hospital in San Francisco, California, appealed to us the most. The best doctor known works in this hospital; he has a lot of knowledge about Faelin’s condition. Four more years of living in isolation, waiting our turn, is not an option. Therefor, we will travel to California this year to meet this doctor. “I would be more than happy to see your daughter,” he told us, after Faelin was admitted as a new patient at UCSF. The doctor will set up a treatment plan, in collaboration with several American specialists, in which Faelin’s livability with her condition will be the main focus point.  

However, we have to pay for the entire treatment ourselves. All of it. Even if Faelin has a seizure and needs to be hospitalized urgently. In the United States, costs of these kinds of specialized care can quickly add up to $100.000,-! Absurd amounts, right? But it will be worth the risk. Because this way, we can make sure that in 2024-2025 Faelin will be strong enough to undergo the gene treatment. As mentioned before, the treatment will replace the function of the defective gene by overstimulation of the healthy genes. This will improve the clinical picture, or even get rid of it: no more epilepsy!  

To be able to pay for both trips and possible emergency hospitalizations, we have started a crowdfunding campaign. Our goal is to collect a total of €500.000,-.   

It will take over 15 years before the treatment will be possible in the Netherlands. And for this condition goes: the more seizures, the higher the chance of irreparable damage and disabilities. The sooner Faelin is treated, the better!  

We fight every day to offer Faelin a livable future, in which she can chase her own dreams. Simple things, like a trip to the grocery store or an amusement park. Birthday visits, swimming, playing with friends, sleepovers at grandma’s. Going out with friends or living on her own when she is an adult. It all seems so obvious, but for Faelin it is not.  

All the things she can’t do now, can be possible after the treatment! 

A small contribution is of immeasurable value! Please help us improve Faelin’s life! 

Five hundred thousand thanks!!