A special, heartfelt message from Eleonora’s parents about their beloved superhero.

Eleonora was diagnosed with KIF1A late summer 2016. She was born in October 2015 and passed February 14th (Valentine’s Day) 2019.

Eleonora’s KIF1A variant presented her with considerable difficulties; severe epilepsy, very low muscle tone/hypotonia, psychomotor developmental delay, difficulty in breathing due to mucus stagnation, apnea, visual impairment/cortical blindness due to optic nerve atrophy, difficulty in swallowing and reflux. She also had a differential diagnosis, PEHO syndrome, which described the dominant feature of the disease (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy).

Eleonora’s difficulties provide answers to her greatest challenge – to live and to survive. To be given the opportunity to live a rich and good life based on her circumstances. KIF1A is a neurodegenerative and progressive diagnosis, which ultimately means that the condition gets worse over time. Eleonora’s time on earth was limited. We knew that from the day she was diagnosed with KIF1A, and this time she should have it as good as possible.

Eleonora is no longer alive but she makes us proud now and she made us proud when she was alive. She is our only child, a beautiful princess who enchanted her surroundings with her beauty and radiance. Our beloved and wonderful daughter! Eleonora taught us the meaning of life, she taught us what true love is and to appreciate even the little things in existence. She influenced politics in Sweden, in matters of disability rights. She became a figurehead for children and young people with disabilities. Her existence provided inspiration and hope. Her life situation made families with toddlers (those with “healthy” children) pensive. After her death, she guides us in life – her love is our beacon. Eleonora has given an important award in her hometown of Malmoe, Sweden’s third largest city. The award, which is to honor and highlight a person or persons who have done important things for people with disabilities in Malmoe, is awarded annually by the city’s (corresponding) mayor at a large ceremony in the city hall.

Eleonora is the one and only, she makes us proud every day – today and forever.

Eleonora is no longer alive. Therefore, it is difficult to have hope for her future.

No child, no youth, no adult should have the difficulties and challenges that a KIF1A diagnosis leads to. Eleonora’s life could not be saved, the disease’s progress could not be stopped – there was and there is no cure or treatment. Yet! Treatment is so important, it gives hope for the future for all people living today with the diagnosis.

Leave a Reply

Your email address will not be published. Required fields are marked *