Support for Potocki-Lupski Syndrome

Mum Lisa., who’s son Kyle has Potocki-Lupski Syndrome, tells us their story.

“Kyle was born by natural birth on June 13th 2013 weighing 71b 5oz. He had distinctive facial features like elf and his arms and legs were very thin with brittle bones.

At around 3 months old I got him weighed by the midwife at the clinic and explained that Kyle wasn’t really interacting with anything. At that age he should be able to sit up and do a bit more than what he’s doing now – I explained what his sister did at the same age.

They replied that ‘boys can be lazy and to monitor it’. I was quite firm and stuck to my guns as my mother instinct kicked in and I told them something isn’t right with Kyle so they eventually referred me to hospital for Kyle to have some tests.

It was a long process – he got sedated (put to sleep). It was heart wrenching to watch my little bubba being pushed on this trolley down the corridor by nurses with his little body in the middle of it. He had a CT scan of his brain. One of the best consultants saw him and the test came back that he had a shadow at the back of his brain. It was an abnormality but nothing too alarming/to worry about it.

Kyle had test after test done and finally after a long wait we got the answer that Kyle was born with a missing chromosome in the body. He was diagnosed with chromosome 17 (Potocki-Lupski Syndrome). It makes the facial expressions look elf-like – a big forehead, quite a broad nose, thin arms and legs, brittle bones and developmental delay with walking and talking.

So all that explains what I thought and knew all along – that Kyle was born differently.

He is now 4 years old a happy, smiling little boy who lives with me his mum and his 7 year old sister Layla. Kyle and his sister have a very special bond together  – they’re close  and she looks after him.

Kyle is mentally at the stage of a 2 year old and in September he will be starting school. He is starting to put sentences together but mainly says one word like mummy, daddy, grandma, what’s that, hi, no, yes etc. I’ve learnt to sign language with Kyle so he can communicate with me I also have picture cards at home to use with him.

He’s had on going support from his paediatrician, pre-school, portage, speech and language and the eye clinic as he was born with a lazy eye. At the beginning he had a physiotherapist to help with his joints but got discharged a while ago now. It’s been a hard, challenging journey but I’ve had a lot of support from friends, family and the professionals.

He is my special little boy. He is unique and I wouldn’t have him any other way. I say to him he has his own little super power because of his missing chromosome. I have a good feeling and faith that Kyle will catch up in life, it will just be a time thing.

Thank you for reading my story”.