Faces of PKS
Ela was born on February 7, 2007, 6 days overdue. Her Apgar score was 9/10/10. She was a perfectly normal, happy, healthy baby, she was breastfed for 16 months. It wasn't until 8 or 9 months, that I realised something wasn't OK with my baby girl. All the other children were standing on their feet and already trying to take their first steps, while Ela was unable to sit. The developmental pediatrician told us she was hypotonic. The cause of hypotonia was unknown. We started to visit neurophysiotherapy. Ela was able to sit unattended at 12 months, she started to crawl at 15, stood up at 16 and started to walk at almost 23 months. As it seemed so late at the time, we now realize how lucky we've been, considering other PKS kids. Meanwhile we started going to a neurologist, because Ela had many other developmental problems, she didn't talk, she didn't understand instructions we gave her, she wasn't interested in the same toys as other kids, she also had a hard time excepting solid food. We have been hospitalized many times, done all kinds of tests and exams including EEG, MRI of her head and genetic testing.
It has been a hard year for us and for Ela, we waited almost one year for the genetic tests and we received them on December 24th, 2009, and they were normal. A great weight was lifted from our shoulders, as I said it must have been Santa who sent us the good news, although we still haven't gotten the answer to what was wrong with our daughter.
It was just a couple of days later when she started having seizures, spasms. We went back to her neurologist, we did another EEG and the result was epilepsy. One of my greatest fears come true and has affected my little girl, my life became like a nightmare, the spasms occured every evening when she woke up. In April, when we were hospitalized in neurological department of pediatric hospital because of her seizures, the second geneticist came to see her. After talking to us and examining Ela, she took her saliva for DNA. A month later she called to tell me my baby girl has got an extremely rare chromosome disorder called Pallister Killian syndrome, that affects less than 300 people in the whole world. Apparently, Ela is the only child in Slovenia with PKS. As shocking as it was at first, we now feel more and more relieved to have gotten the answer to our question.
It's now almost 10 months after the seizures started and we still haven't found the right cure for them, she has them 6 nights per week. But we are hopeful. We believe. And most of all we find the support in our new family, PKS family. We haven't met anyone else who is affected by the PKS in person, but we know we can turn to our PKS moms for any answers we might have.
Having a child with special needs…it's something that cannot be explained. It's one of the hardest things that life can give us. But one thing is for sure, Ela is the happiest girl in the world, she's got so many people around her that love her more than life. Children with special needs need a lot of love, but they give back to us a whole lot more love. The most scary thing about all of this, is the future. While we try not to think about it too much, it sometimes sneaks up on us. It's the uncertainty that's the most scary, how will she develop, how much will she be able to learn, how dependant she's gonna be on us. But I'm certain of one thing, with all the love we have for her, we can overcome anything. Nothing is impossible, the stars for her are not out of reach, she's just gonna reach for those that are set a little lower in the sky. And she will do great things, she's gonna teach us more about life and love, anyone can imagine.
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