Price’s Story
Price was born on August 29, 2008. He is our middle child - we have an older daughter and a younger son. His pregnancy was perfect and there were no issues during his birth. At birth, he seemed strong and healthy and even attempted to hold his head up. Looking back, it was a jerky motion, and I wonder now if it was a sign of movement issues that would later unfold. We brought Price home from the hospital, and he ate and slept well.
History
My first observation that something might be wrong was his eye movement. He had vertical nystagmus and often, his eyes would roll up and stay there for a few seconds. We later learned this is called Paroxysmal Tonic Upgaze or PTU. It happened most commonly when he was eating or when we were in the sunlight. Price is now almost 12, and we only notice this when he is very tired or sick.
We took Price to our pediatrician and even neurologists at Texas Children’s Hospital. They could not find anything wrong with him, even when they finally decided to listen to me and run some tests. An MRI exhibited extra-axial fluid and his EEG showed abnormal brain waves, but nothing to point to the reasons Price was so delayed in his development. He sat up around 2 1/2 and rolled to get from point A to point B. He crawled around age 4. He started standing a couple of years after that and can now walk with assistance in a walker, although he spends most of his time in his wheelchair. He has always improved in his skills, never regressing. He is still making progress with his walking. He is non-verbal and uses sounds and his Nova-chat device to communicate with us.
Price is generally a pleasant, hard-working boy. He has the best laugh and brightest blue eyes. He also stays relatively healthy, and we are quick to administer breathing treatments during respiratory viruses. He has had some falls and we have to provide around the clock supervision. We have dealt with some behaviors lately and aren’t sure if it’s just pre-teen behavior or frustration from lack of ability to communicate - probably a combination of both. We do OT, PT, speech and send Price to a therapeutic school in Houston, Texas. We have tried numerous therapies and medicines with him - we are so thankful to have a neurologist who stays on top of the research and is always willing to try new things.
Diagnoses
Price was finally diagnosed with CACNA1A around age 9. I (his mother) had done research and spoke with a friend who was also searching for a diagnosis for her daughter who was similar to Price. I asked our geneticist to run the test. His variant is p.P1353L. I have only seen one other child with his exact variant in the medical literature. He has also been diagnosed with ataxia.
For Those Newly Diagnosed
It can seem so scary and so daunting. Take one day at a time. Give yourself time and space to grieve the loss of a typical child. You WILL be okay. And in time, you WILL see how what you thought would devastate you might be your greatest gift. I know for us that has been very true. He is the star of our family! Please reach out kristenstedham@gmail.com