The Story of Vicky and Paul’s Little Miracle with Angelman Syndrome
This Story of the Month is based on a young boy called Sebastian, who attend our Kidz to Adultz North event in November 2017 with his parents. His mum (Vicky) gives her insight along with dad (Paul) about their journey of seeing their little boy grow up with Angelman syndrome.
Please can you tell us a bit about you and your family?
We have two sons, Sebastian who is 11-years-old and Harrison 8-years-old. Sebastian was born in 2006 after a very bumpy pregnancy with lots of hospital stays for hyperemesis. Once he was born he had feeding and sleeping problems. He suffered from reflux, which led to him being admitted into Royal Manchester Children’s Hospital at 6-weeks-old for feeding issues. They put a camera down his throat but it revealed nothing.
However, they found he had sleep apnoea. We were scarily given training in baby resuscitation and Sebastian was placed on a monitor and under a paediatrician until 11-months-old. During this stressful time we had health visitors tell us we were ‘bad parents’ as he wasn’t gaining weight. They accused us of neglecting him because he wasn’t talking and at one point they tried to question family members about our parenting capacity. Sebastian has always been loved, cared for and protected.
Can you tell us about Sebastian’s condition?
When we finally met the physiotherapist, little did we know that when she walked in she knew exactly what condition Sebastian condition was. She insisted we see another medical professional and referred us to a paediatrician in the community who assessed him. After the second appointment we agreed to a blood test. A month passed and we were told that it was something to do with Chromosome 15. It was very apparent that Sebastian had something called Angelman syndrome. We figured this from his delayed mile stones, his non existent language, and his facial shape and sleep patterns (or lack of).
We were absolutely heart broken
But as a first time Mum and a woman who had historically been told she couldn’t have children, we didn’t see Sebastian as being any different. He was still the same little miracle they handed to us when he was born – a beautiful 18 month old who was bright, bubbly, and so very innocent, who had only just learnt to sit up although very wobbly.
Another month had passed and we were sat in a paediatrician’s office awaiting confirmation it was Angelman syndrome. She confirmed it was Angelman syndrome, a rare condition caused by the gene UBE3A on Chromosome 15 where it’s either deleted, mutated or replaced by two copies from the paternal side (father) in the brain. We were relieved yet still very sad; someone was telling us that our perfect son wasn’t so perfect. She told us that Sebastian could have seizures, struggle to learn to walk and may never utter a recognisable word. We were also told that he may have absolutely no danger awareness.
We had gone into the appointment with a support worker / portage worker to help us deal with the news. Her first comments were,
You’ll never be able to go for a meal or do anything normal again.
Needless to say, she wasn’t working with our little family long. From then onwards we decided that Sebastian would have every opportunity life had to give. At two-years-old Sebastian started with seizures which took years to control and on numerous occasions was in status epilepticus, a prolonged seizure where he was seizing both during being awake and sleeping. He lost a lot of the skills he’d already learnt and had numerous hospital stays.
9 years later
Fast forward 9 years, Sebastian has made lots of independent steps. His seizures have become more controlled, with 1:1 help Sebastian attended mainstream nursery and loved every minute being with his little friends. At 3-years-old, Sebastian became a big brother to Harrison, who Sebastian adores and loves to cuddle endlessly. He was a page boy at our wedding and with help walked down the isle.
Sebastian became a Beaver, a Cub, and now he’s now a Scout. He has been on a ‘wish’ holiday with Caudwell Children charity to Florida, a holiday we never thought Sebastian could cope with. And we plan to take him back one day.
More recently he took part in a super triathlon with his dad to raise money for Caudwell Children charity and Wheels for All. He has been home-schooled and now attends a special needs high school. He’s hardly seen in his wheelchair. There always seems to be something exciting going on there and he’s happy and healthy and loves all of his teachers. He has started using his iPod for communication (mainly for asking for chocolate and telling us he loves us but it’s a start!) And it was only recently that, he muttered that all very important word, ‘Mum’.
An inspiring journey
Sebastian loves life and he loves being in the middle of everything, he has a naughty streak and a loving side. He loves his iPad, YouTube and everything all 11-year-olds love. He’s a typical boy doesn’t want to have a bath or doesn’t want to eat his greens! He sees no evil and has an energy that spurs you on. He makes you a better person and a better parent to help him be all he can.
Life for us may not be normal but on our journey we have met the most astounding and inspiring people. We’ve lost friends who were scared and didn’t understand. But more importantly, we’ve made new life long friends who are travelling on that same ‘may not be normal life journey’. We thought we were alone but we weren’t.
Nobody is alone, they just need to find the right support and discover people who are on that same journey.
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