Strange Symptoms Help Evie’s Family Find Diagnosis of Isodicentric 15
June 4, 2014
Evie was a much waited for and wanted baby. Chris and Anne had planned out everything, when they found out they were expecting they were overjoyed. The pregnancy went to plan with no complications, and Evie was delivered on the 26th July 2010, a healthy baby girl. Chris and Anne were happy to finally have their little girl in their arms.
Months passed and Evie grew, she was a happy baby that slept well from birth. Anne thought all her dreams had come true. Then one day when Evie was 7 months old everything changed, Anne got Evie out of bed in the morning, but something wasn’t right. Evie just went limp and wouldn’t respond, Anne panicked she couldn’t work out what was wrong with her baby girl. Anne called for an ambulance and Chris and they both came rushing. By the time they arrived Evie was responding but very tired so they took her off to the hospital.
Doctors checked over Evie, but they couldn’t seem to find what was wrong. They sent Evie home and told Chris and Anne to keep an eye on her. A couple of days passed and it happened again, so off in an ambulance they went back to hospital. This time they were admitted and an EEG was scheduled. They thought Evie was having seizures but couldn’t be sure. The EEG came back normal and Evie was fine while in hospital, so they were sent home again. A week passed and it happened again, so once again they were admitted to hospital and a second EEG was performed. This time they found something, Evie was having seizures. So then the journey began to find out why.
They were then sent to the Royal Children’s Hospital for further testing and to meet with a neurologist. They did more EEGs, an MRI, lumbar puncture, and blood tests. After awhile the results were back, Evie had epilepsy which was a result of a rare chromosome disorder. Chris and Anne were in a state of shock, This all came out of nowhere and they had no idea where to go from here. Their world came crushing down around them, their little girl that they had so many hopes and dreams for would not grow into or do things they thought she would. The months that followed were filled with getting their heads around everything, Anne threw herself into research and the more she found the less she liked what she found. Chris was the front line for helping Evie communicating and playing with her to make sure she wasn’t going to be left behind.
Over the next couple of months they were back and forth to the hospital to try and find a drug that would stop Evies seizures. They finally found one that worked and they didn’t have to watch there little girl helplessly as she had seizures anymore.
They met with a genetics doctor to get the full story of what Evie had, something called “Isodicentric 15” that they had never heard of before. They then had the job of getting Evie the best care and support they could. In the mean time Evie developed a little slower than most kids her age. She sat unaided on her 1st birthday and was walking by 17 months. Chris and Anne were overjoyed as they were told she may never walk. Their clever little girl had done this all on her own with no help from physiotherapy.
They went on a waiting list for early intervention and were told there could be a wait of up to a year. In the mean time they went to a speech therapist privately, but after a few months they told them they couldn’t do anymore to help. So the wait continued and Chris and Anne did their best to do as much as they could for Evie at home. After 10 months finally there was a place in early intervention, they where going to get the help they had been waiting for. They started out with sign language and just trying to get Evie to make eye contact, and understand what she wanted.
Now at 3 years of age, Evie is responding to her name and understands most of what Chris and Anne are saying. Her seizures are under control and most of the time they can work out what she is after and together they are getting there. With Evies high sensory needs it can be hard to know what she needs straight away and it is a process of elimination to find what she wants. Evies sleeping took a bit of a turn for the worst she woke one night at midnight and didn’t go back to sleep for 20 hours. Anne took her to the doctors where she was put on another drug to help her sleep, but it didn’t seem to work. So Anne did more research and found that a gluten free diet can help, so she started Evie on a new diet. It did the trick, Evie is only waking once a night for about 40 minutes.
Last year the family added another member, a little girl Jordan, she is a very happy and funny little girl. They think it has helped Evie as she is having to share with Jordan and be aware of her in her space.
She has had many challengers in her short life so far but she hasn’t let them get in her way. Generally Evie is a very happy cheeky little girl that loves to climb and run around outside. Chris and Anne are getting there slowly as a family and thank you for your support of there little girl.
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