Hi, we are Nyla and Carine. We are the mothers of Liam and Chloé, two beautiful kids of 2 and 18, different in many respects but united in the same struggle. They suffer from KAT6A syndrome, a rare genetic disease discovered in 2015, which affects only 220 people in the world.
The disease is a mutation of the gene KAT6A, responsible for the production of the protein KAT6A, which affects the production of all other proteins in our body. Only 4 children have been diagnosed in Belgium and no medical specialists can be found in our country. Moreover, every person has a different mutation, which leads to a wide range of symptoms and features.
Only in the United States, there are specialists who can provide advice and include Liam and Chloe in experimental treatments. The funds will help us bring our kids to the annual medical clinic in Baltimore (USA) and consult the only specialists on this rare disease. It’s our only chance to give our children a better life, and we won’t give up!
Liam is 2 years old. He is a cute and gentle boy, always smiling and charming everybody around him. He’s never been a big eater, but when he was 4 months, he started drinking less and less milk. He stopped growing and soon became underweight. We went from doctor to doctor until a DNA test gave us the answer:KAT6A. A few letters that changed our lives forever.
For Liam, the main challenge is that he cannot eat properly. Which means that he cannot grow properly. Most of what he eats or drinks, he throws right up and he needed a gastrostomy to feed him directly to his stomach. He still throws up much of what he eats, but the surgery helped him gain 1kg since this summer, and two weeks after the surgery he walked for the first time.
Chloé just turned 18 and is a wonderful young girl with blond hair and wide powerful eyes. She has somehow always been different with several medical problems from birth onwards. Unfortunately, it took 16 years to put a name on Chloé’s disease: KAT6A, the same five, apparently innocent letters.
She is underweight and has had a gastrostomy for feeding since she was little as she can’t have anything by mouth. Amongst others, Chloé has sleeping disorders, repeated infections, mental impairment and has already undergone operations for heart problems. Chloé is the most severely diagnosed at adult age in Belgium.
FINDING A CURE
In Belgium, Liam and Chloe’s disease is considered “orphan”; people suffering from it have little hope for treatment and no access to drugs. Too few are concerned for research to be done. The only option for a cure is in the United States. There, more than 100 patients are diagnosed with KAT6A, there are specialists and drug trials are ongoing. A yearly clinic conference in Baltimore gathers specialists of KAT6A, and families have the opportunities to consult with them and receive recommendations for treating their children.
Our aim is to bring our children to the upcoming KAT6A Clinic conference. The conference takes place on 27 & 28 March 2020 and is organised by the KAT6A foundation and the Kennedy Krieger Institute at John Hopkins University.
Although the access to the event itself is free of charge, we need help with our travel expenses (flights and hotels) as well as the consultations, which cost between 1,000 and 2,500 euros each.
This trip will help us learn more from the limited expertise that exists on the disease, and finally find a treatment for our children.
Please help us reach our goal! These funds are crucial for giving our children a better life!
Share the fundraiser with your friends on social media or by email to help us meet our fundraising goal.
Thank you for your generous support of the KAT6A children!
Know more about KAT6A at www.kat6a.org
Donations goes directly to KAT6A Belgium, a non-profit organization that we founded to this aim, and are tax deductible.