- Posted June 18, 2014 by
This iReport is part of an assignment:
Raising a special needs child
The Unexpected Journey
- Jareen, CNN iReport producer
My husband and I welcomed our first born son into the world on July 20, 2010. We were over the moon excited and blissfully unaware of how much our life was about to change over the next few months.
It didn’t take long for us to notice that something was a little different about Parker. His eyes didn’t track the same way as his peers and his development was delayed. After meeting with doctors and early intervention centers we had an MRI done and at 7 months Parker was diagnosed with Joubert Syndrome.
Joubert Syndrome is the absence or underdevelopment of the cerebellum and a malformed brain stem. It is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and cognitive impairment. It can also disrupt eye, kidney, and liver function in individuals with Joubert Syndrome. (www.jsrdf.org)
When we received the diagnosis our hearts were shattered. Our dreams of what the future would look like for our child were completely altered with this diagnosis. Instead of being able to watch Parker play baseball, we were told he may never walk. Instead of having meaningful conversations with our son, we were told it was likely that he would never talk. Everything seemed so grim and hopeless as they went on to explain all of his limitations and what reality will look like.
But it didn’t take long for Parker to blow past those limitations. Each day it seemed he would do things that the doctors never expected of him. Despite his limitations, Parker has excelled and reached milestones we never knew were possible. His determination and drive to reach the next milestone have surprised us and he is the happiest little guy around.
After Parker was diagnosed we found out that because this was a recessive genetic disorder, each pregnancy has a 25% chance of having Joubert Syndrome. Knowing our chances, we were undecided as to if we would have any additional biological children. Our decision was made for us when we found out we were expecting again in January of 2012. This pregnancy was not planned, but we were estatic about growing our family.
With this pregnancy we did some prenatal testing. Some blood work, ultrasounds and lots of doctor appointments. During all of our testing it did not appear that this baby was affected with Joubert Syndrome, so we remained cautiously optimistic. We were optimistic that their findings were true, however, we did know that there was a chance they could have missed seeing something and we wouldn’t know for sure until the baby was born.
Lane was born on October 18, 2012 and was a happy and healthy baby! He showed no signs of Joubert Syndrome and was developing and growing as a typical baby would. It wasn’t until about 6 months old that Lane started to fall behind in his milestones. We voiced our concerns to doctors but because there was no other symptoms or signs indicating Joubert Syndrome, the doctors didn’t feel he had it. It wasn’t until he was 10 months and continuing to fall behind on his milestones that the doctors finally ordered an MRI and he was diagnosed with Joubert Syndrome as well.
We went from having no kids and dreaming of a future with lots of healthy babies, to suddenly facing reality of life with two boys with special needs. Lane’s diagnosis was devastating in the fact that we had been told and believed for so long that he was unaffected, that when we finally were told the truth it was hard to shift your mindset.
The biggest obstacles both boys seem to face is the low muscle tone (hypotonia) and coordination. At almost 4 years old Parker is not yet walking independently, and Lane at 19 months is not yet crawling. This makes for a lot of physical labor on our part, but with the help of occupational and physical therapy and equipment like walkers, compression suits to activate muscles, and various other items, both boys are making huge strides in gaining independence and acquiring these skills. They are extremely bright little boys and amaze us every day at how much they know and are learning.
Needless to say, raising our children has taken us on some different paths than we expected. But those unexpected paths have been some of the greatest blessings we could have ever imagined. Celebrating milestones are such a big deal because they are so significant, life takes on a new meaning, and our purpose as parents has changed and shaped us into better people. The smiles these boys give us and the love they share is deeper than anything we could have ever imagined.
We try to raise them as we would any child, but have to take into consideration their specific needs in different circumstances. We still put them in new situations, leave them with babysitters, and have high expectations of what they are to achieve. Because if we don’t believe they can achieve it, then who will?
We’ve learned to advocate, to teach, to extend grace, and to grieve as we are walking this unexpected journey.
It may not be the journey we would have chosen for our boys, but we cannot help but feel like the luckiest parents in the world and know that our boys are set out to do big things for this world!
You can follow our journey at http://www.nickandannadietzen.blogspot.com