The Spooner Family documentary, The Life We Live, will be premiering online on June 20th.
Viewers can also view the film during a live screening on June 19th, 2013 from 6:00-9:00pm at Ambry Genetics.
Cali was born in 1998, at four months old she started to shake her head uncontrollably like she was having seizures. We brought this up to our pediatrician at the time and she didn’t show too much concern. We wanted a second opinion.
This new pediatrician took one look at Cali’s reflexes and knew something was wrong. Over the next months Cali’s tremors started getting worse and worse. She was violently shaking and her eyes would roll to the back of her head. It looked like she was having a full-blown seizure and we couldn’t get her out of it. We went to the hospital and were admitted right away and the testing began. At this point, Cali was only 8 months old and she had to endure test after test to try and see what was going on.
Every test, including the video EEG, came back showing no signs of seizures. We didn’t have any explanation as to why Cali wasn’t able to sit up or crawl and why she was having these seizure like movements. We saw several doctors and neurologists and all they could tell us was that her MRI showed damage to the cerebellum. They had never seen an MRI like hers before. Whatever our little girl had was very rare. In 2006, we were blessed with our 2nd beautiful daughter, Raelyn. Fortunately, she is healthy and happy.
Her development has been completely normal. Then in 2009 we were blessed again with our 3rd beautiful daughter, Ryann. When she was 4 months old, we noticed Ryann’s eyes twitching and her head continuously shaking. She was displaying the same seizure like movements as Cali did. When she was about 6 months old, our pediatrician recommended Ryann to see a neurologist.
It’s as if we hit the rewind button and experienced exactly what we went through with Cali – now with Ryann. Our doctors were now out of ideas and we were struggling to accept that we may never know. Then the stars aligned and we were presented with a new cutting edge test that was available called Exome sequencing. We of course jumped at this opportunity.
Finally, we had hope!