We spent the first week of Ivan's life in the hospital, then we were sent home with monitors, oxygen canisters, and medication. The doctors were confused but assured us that he would grow out of these respiratory problems (which included apnea and reflux) as his system matured. We were very anxious but also very happy to have Ivan home.
His breathing problems did pass, but by the time he was 2 months old and not focusing on objects we were worried about his eyes. We were told to wait until he was 3 months old. He still wasn't focusing and that's when the crazy stream of doctors' appointments began. Most of his doctors assumed Ivan had LCA (Leber's Congenital Amaurosis), and that was confirmed with an ERG in July, 2006. (You can read more about our ERG and Ivan's LCA diagnosis here.)
Ivan is happy! In the summer of 2008 we attended an LCA conference and felt that Ivan, then three years old, just wasn't keeping up with his peers. So we began scheduling more doctors' appointments and tests and by late 2008 Ivan was diagnosed with Joubert Syndrome along with the already diagnosed LCA. Ivan began seeing a geneticist at Children's Hospital Boston and we soon discovered that he had a mutation on the CEP290 gene that is often associated with both LCA and JS.
But Ivan's trials weren't over. When he was about three and a half years old he began losing his speech and by the time he was four he was completely nonverbal. Ivan had gone from a boy who had over 100 words and was beginning to put two- and three-word sentences together to a boy with no language at all in about six months.
More doctors' appointments led us to a diagnosis of Landau Kleffner Syndrome, a language processing disorder caused by sub clinical seizures in the language center of the brain. Of all the diagnoses Ivan has received, this one was the hardest to take. LKS took Ivan's speech away from him, along with much of his physical and cognitive skills. Seizures are nasty, nasty things.
In 2010 Ivan had his first sustained tonic-clonic seizure and we knew his epilepsy was getting worse. It was a frightening day, and we are still playing the medication game trying to find the right combination and dosage. I'm happy to report that his last 24-hour EEG was spike free!
Through it all I've learned that regression is a bad word, but that it often comes hand in hand with disability and that we should appreciate everything we have now because life is fleeting. I'm also impressed everyday with the grace and strength with which Ivan faces his challenges and I am determined to help Ivan be the best Ivan he can be!
WonderBaby.org, a project funded by Perkins School for the Blind, is dedicated to helping parents of young children with vision impairments as well as children with multiple disabilities. Here you'll find a database of articles written by parents who want to share with others what they've learned about playing with and teaching a blind child, as well as links to meaningful resources and ways to connect with other families.
If you would like to link to WonderBaby, please click here.
I began this site in 2006 when my son, Ivan, was only one year old. He had just been diagnosed with LCA, a rare retinal disorder, and we were desperately searching for support and answers. At the time I thought it might be a good idea to gather everything I found into one place.
In 2011 WonderBaby teamed up with Perkins in order to provide more features and support for families through the internet. My original intent for the site was just to link to resources I found on the web, but before I knew it I was writing more and more about Ivan and all he had to teach us! I soon learned that other parents were experiencing this too... we all know that our children are full of wonder and they amaze us every day. As we focus on teaching our children all they need to learn in order to be as independent as possible we are often surprised to find out that we are learning so much from them!
If you want to share your story or have any ideas or advice for other parents, we'd love to hear it! Please contact us!
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