When Elya was born everything looked good, “normal”, they call it.
A sweet, pleasant baby – a wonder. I remember she talked long before she walked.
At about age 3.5, some of her movements seemed a bit awkward, but alongside that she memorized entire texts of books, had a good sense of humor and positive to her environment. It was fun to go to stores with her knowing she would not touch, not knock down or break things. She enjoyed meeting with other kids, give up easily a toy and was not pushy. It was fun to sit with her in a cafe and I was already fantasizing how, when she grew up, we would walk and laugh and talk about matters of importance and feel on the top of the world.
When Elya was about 4 years old, her speech became gradually less and less clear and then the tests began: neurological, metabolic, genetic. First MRI in relatively older age showed mild changes in the brain, but nothing came under any heading.
The most accurate diagnosis for those days was given at the age of five: “the girl understands the essence of things, but does not know how to organize the information, and there is a big difference between her input and output.
At this point I realized I could not leave Elya alone. She needed mediation and guarding, because I was not sure she could tell me what she feels or what is happening to her, or that I would understand what she means, what she is saying.
At age 10, while she still could walk, still could thread tiny beads on a flexible string, still could talk, although no longer like us, the medical voices around were saying, “There’s nothing to do. You better give up.”
At the age of 12, we were offered biological treatment, which is similar to chemotherapy, thinking that it might be a disease of the immune system – an autoimmune disease. It was a shot in the dark.
The treatment did not help and even harmed. We decided to stop after the third treatment.
All that time, as any mother would do, I was looking for ways to help her: I checked all the possible treatments, kept looking in articles, in studies, for something that would give us an edge of a thread after the doctors declared there was nothing to do.
A situation of urgency and haste, and no one to call for help, lost in the maze of doctors and scientists.
I insisted on repeated and specific genetic testing, and already in 2015 the genetic mutation was found. The study of this was published in 2017.
Elya is ill with a deceptive and cruel disease, which creeps in quietly… fewer words, disappearing one by one, less balance, less motor abilities.
This was the reason why we set up the ALMY-foundation, because the journey has just begun.
We will be happy and thank you for your support.
Elya’s only hope and that of millions of other children around the world who suffer from rare diseases is private initiative and funding.
Your donation will be directed to support leading minds and hearts, from the best universities, labs, and hospitals, who agreed to join this journey, we hope to extend the circle of investigation and develop simple and promising methods to bring healing and ease to the dis-ease.