We are also aiming to raise funds through various fundraising events to train a Therapy Dog for Evie as well as raise funds for 2 organisations that have provided support and hope for the family – Snowdrop For Brain Injured Children and The Chromosome 18 Registry & Research Society. A bit of background
Evie was born on the 11th March 2010 and was the much anticipated baby sister to Alicia, Charli and Josh. The first few months of life were like any newborns and it wasn’t until 4 months, when Evie wasn’t reaching milestones that the family started to become concerned. The doctors assured them that this wasn’t anything to worry about, but at 6 months when she had stopped growing, they knew something wasn’t adding up. Their GP referred them to a paediatrician and they really were expecting to just be told she had a deficiency and that a course of vitamins would soon correct it, but it was on this first visit with him that he told them he thought she had a chromosome abnormality. Those words rocked their world, they weren’t expecting that, they didn’t know how to process that, they weren’t prepared for it. He went on to tell them that whilst he believed Evie to have a chromosome abnormality, it wasn’t one that he could identify and sent her for a DNA blood test. The 4 week wait to get the results back were the longest and most stressful for them as they didn’t know what it would mean for her or if it would be fatal. To have such uncertainty as to whether your child would survive or not is not something you would wish on anyone. When they got the phone call to say the results were back, they felt such relief that they were finally going to be getting an answer. Unfortunately this didn’t happen, the doctor told them that the result was quite complicated and that both of them also had to have a DNA test to see if the abnormality had been passed on from them or if it was “de novo” ie spontaneous and not passed on. Until they got those results they wouldn’t tell them anything. Finally Evie’s paediatrician called them in for a meeting. He told them that Evie’s abnormality was “de novo”, that it occurred spontaneously, without cause or reason. He also told them she had 2 chromosome changes, one only small and the other larger. He told them that she had a syndrome call 18p- syndrome. As it was rare he didn’t have any experience with it but showed them some old outdated information from an old medical encyclopaedia. Due to her syndrome Evie has growth hormone deficiency, needing daily injections, at 20 months she was diagnosed with severe obstructive sleep apnoea but due to her small size and the risk of bleeding had to endure 3 months on a CPAP machine to keep her airways open at night until her surgeon was happy to operate, she has low muscle tone, a squint, global developmental delay and a new diagnoses of a neurological movement disorder Dystonia. Reaching milestones for Evie is difficult, they don’t happen naturally, they have to be guided and taught. She requires high levels of specialist support. She has daily physiotherapy, occupational therapy, speech therapy and neurodevelopmental stimulation. She sees an Endocrinologist to monitor her hormone levels, an ophthalmologist to monitor her eyes, a neurologist to monitor her Dystonia, an orthopaedic surgeon to oversee a suitable path to get her up and walking, a naturopath to ensure a healthy diet….the list goes on and changes as issues present or resolve. It all sounds very daunting on paper but in person Evie is known for her infectious smile, her cheeky personality and her determination to face and conquer all challenges put before her. A lover of Dora, music, people and all things outdoors, this page will serve to share and raise awareness for this rare syndrome whilst raising funds for 2 organisations that have supported the family and funds to help train a Therapy Dog for Evie.
