“We really hope that someday there will be a treatment that can help stop the progression of the symptoms, and give Elena and us more years to enjoy together.”

A message from Elena’s family:

Elena was born in Switzerland, she was a happy and quiet baby. Although there were little signs, we didn’t see them clearly. Of course, as parents, you always want the best for your baby, but sometimes you are afraid of being paranoid. Elena has a big sister, so it was very easy to compare, but we didn’t want to do that. The signs were very subtle. Even though her development during the first year was “normal” – she was able to sit, to eat, and say a few words – very inside us we knew that Elena was somehow different.

When she turned 1 year old, we moved back to Chile. When we arrived, we started to see some clear delays and regressions in her development. She didn’t applaud, she didn’t wave her hand to say hello, and some words and babbling were starting to disappear. So, we started the difficult journey of diagnosis. We went to see different specialists including neurologists, neurosurgeons, ophthalmologists, dermatologists, traumatologists, immunologists, pediatricians, and physiatrists. Hundreds of doctor appointments and uncountable exams, second and third opinions, but nothing made sense. We felt we were getting into a tunnel that seemed to never end, and felt larger and larger every day.

A few months before Elena turned 2 years old, we finally found a way to perform a genetic test with a German Laboratory. Something that seemed so easy, became something very hard to finally do, there’s very little information about genetic disorders in Chile, so it was hard to find consensus between Elena’s doctors on which was the right test. The day we received the KAND diagnosis the world stopped. We knew something was happening with Elena, but as a parent you never imagine a rare disease as an option.

Elena is not able to talk, just says “mom” and “dad”. She is not able to walk, but luckily she crawls. She has epilepsy, a big intellectual delay, reflux, visual impairment, she has hypotonia mixed with hypertonia in her legs, and a very poor balance, so she falls very often.

Despite all the challenges and symptoms that she has, Elena is an extremely happy girl, she loves her sister, and enjoys family time. She is very social and curious. She loves playing with other kids and is obsessed with animals. She is a true angel, and a fighter, and is always pushing herself to improve and searching her own limits. She enjoys all her 6 therapies per week (physiotherapy, occupational therapy, speech therapy, and hydro therapy).

We are so proud of her. She is a light on our lives, she came here to teach us and our families so much. We can’t imagine life without her, but we already know what KAND can do to her, so we make sure to enjoy her every day, taking one day at the time.

We really hope that someday there will be a treatment that can help stop the progression of the symptoms, and give Elena and us more years to enjoy together.

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