Our Daughter’s RARE DIAGNOSIS – Angelman Syndrome

Our Daughter’s RARE DIAGNOSIS – Angelman Syndrome


Hi, I’m Robin. This is my husband Kirk, and our wonderful daughter, Ever Grace. We just found out she has Angelman Syndrome. Angelman Syndrome is a rare genetic and neurological disorder that causes developmental disabilites and neurological problems. It occurs in approx. 1 in every 12 to 20,000 births. It is also misdiagnosed as Cerebral Palsy or Autism. LIVING WITH ANGELMAN SYNDROME Our daughter, Ever was born on Sept. 28th 2013. She appeared healthy and we thought she was perfect. But things changed once we brought her home. Ever became very upset, crying constantly, and was almost inconsolable at times. Ever had a lot of trouble keeping food down. She appeared uncomfortable all the time and also wouldn’t sleep. She even had to be held upright most of the time. 19 days after Ever was born, she was admitted into a Children’s Hospital with a fever and mild dehydration. She was eventually diagnosed with GERD. GERD is a chronic digestive acid reflux disease. Even though our daughter would continue to have issues with acid reflux. Things improved dramatically. There was a big decrease in her crying and she began to exhibit a constant happy demeanor. Ever was now happy all the time. And she barely cried. Another thing she didn’t do much of was sleep. She could function without any rest at all and we didn’t understand it. Kids with Angelman Syndrome have sleep issues. After Ever’s 1st birthday, we were still worrying she was developing too slowly and something might be wrong. Ever had no speech and rarely made any babbling sounds.. We also began noticing uncontrollable flappy arm movements she did when excited. She appeared uncoordinated and always off balance. By Ever’s 2nd birthday she had already had an assessment with the Ottawa Children’s Treatment Centre. She still didn’t communicate verbally and couldn’t walk, stand, or balance on her own. 2 weeks after her 2nd birthday she had an appointment with a physiotherapist. It was suggested that Ever might have low muscle tone and a sensory processing disorder. Low muscle tone is another symptom of Angelman Syndrome. A SPIO pressure body vest was placed on Ever to help with stability and balance. She actually took a few steps on her own. Then for the very first time. Ever began walking on her own. Over the next 9 months we would take Ever to many different assessments and appointments. On June 17th 2016, after nine weeks of waiting, we received the results of Ever’s genetic blood test. It confirmed what we had already suspected. Our wonderful daughter had Angelman Syndrome. Angelman Syndrome is caused by a genetic mutation of the UBE3A gene which is located on Chromosome 15 in the brain. There are a wide range of symptoms associated with Angelman Syndrome. These are the ones Ever has. What do we do now? We keep doing what we’ve already been doing. Being there for her, no matter what. Always. Help her learn new things and acquire any skills we can. . An mostly, we are going to remain positive. There is currently no cure for Angelman Syndrome, but we remain hopeful. Our daughter makes it easy to stay positive about her situation. She’s so happy! She’s our little Angel! We are trying to help raise awareness so feel free to LIKE and SHARE this video. We really want to try to help any other families out there that might be in our situation right now but haven’t been able to figure it out yet.

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