Enjoying a Journey

Today's post is from Jennie, the newest member of the kidz krew! You can follow Jennie's story on her blog Enjoying a Journey. And here is her son's story....

First of all, I’m so happy to be a part of KIDZ. Raising a child with a disability can be overwhelming at times. I’ve only recently joined your community and already have felt a strong sense of strength and support. It is nice to know there are other moms and dads out there who share our family’s hopes and fears and also on occasion, our frustrations.

Hi, my name is Jennie. I’m a mother to four fabulous children, one of which has special needs. My beautiful boy, Jackson, is now ten years old. His name was chosen before birth. I always loved the movie, Steel Magnolia’s – a little cheesy, I know. But, it spoke to me. The movie conveyed a sense of sisterhood, family, trials, and endurance. It taught me that with a support system and sometimes a good cry, you can do anything. Now, over twenty years later, it seems a little more than the name of Shelby’s fiancé has carried over into my life.

Five months into my second pregnancy and through various ultra sounds, we were told Jackson had brain structure anomalies. Our fears were calmed when the prognosis was slight developmental delay. Our baby may just be slow to learn to walk. Oh, if that would have only been true, life would have been a lot simpler; less adventurous, but certainly more simple.

Instead we started our specialist appointments on day two after our hospital release. Doctor visits and therapy have continued ever since. As we searched for answers and solutions, delayed development, therapy, blood work, every type of specialist available, communication disorder, apraxia, failure to thrive, surgeries, pervasive development disorder, autism spectrum, and genetic testing became regular parts of our vocabulary, schedule and life. However patience, diligence, hard work, lots of faith, prayer and hope, seemed to have been the key for some relief, although, answers still would not be ours for another seven years.

In 2006, a new genetic test was developed. CGH Microarray changed our lives. This new technology was able to identify deletions or duplications that had taken place in DNA during development. Prior to this technology, only certain known syndromes could be tested for through blood work; thus, the reason for our unanswered diagnosis. Who would have thought to test for a small piece of DNA on the long arm of chromosome seven? No one.

The spring of 2007 set us on a new course when a correct diagnosis was finally made. Even though it was hard to hear that yes, a problem had been identified, it was also such a blessing and a relief to finally have a name for Jackson’s delays. It wasn’t a matter of bad parenting or a stubborn child. There was a reason why our child was unable to speak, was consistently fussy and hard to handle, a reason he struggled to develop relationships with others, and had difficulty learning to run, play and progress like his older sister. The name for our struggle was 7q11.23 Duplication. We would learn Jackson was one of only about 11 in the world known to have this disorder. I immediately tried to find others who knew what we were going through and who could identify with the challenges in our life.

Although we have a large family who loves and cares for us, we felt somewhat isolated. We weren’t sure where we fit into the world of special needs and we were often teaching doctors and therapists about the disorder. After learning all we could about 7q Dupe through our geneticist and through the limited information available online, a friend of mine pointed us to an organization in the UK called, UNIQUE. They specialize in providing support and information for individuals and families who have rare chromosome disabilities. Through the UNIQUE organization, I found two other mothers in the United States whose children share the 7q Duplication. I immediately searched them out.

Three years later, our efforts of supporting one another have led to the formation of a new non-profit organization called, Duplication Cares. Not only do we support the families and individuals with 7q Dupe, but steps are being taken to educate the medical community about the differences between the duplication and Autism. As with so many other syndromes, 7q Duplication mirrors autism and a large percentage of the children diagnosed with the duplication have also received an autism spectrum diagnosis. We now know there is treatment to help our children with the duplication. There is hope. Through hard work, progress can be made.

Our numbers have grown. Our small band of warriors is approaching 50 individuals in the United States. Our kids struggle with speech, social interactions, anxiety, behavior, and are developmentally delayed. Jackson also has a thin corpus callosum and enlarged brain ventricles which contribute to his delay.

At various times in our life, we’ve felt Jackson’s syndrome has been invisible to the outside world. This can be a blessing or a curse. Yes, at first glance, Jackson may seem like a shy, typical, ten year old boy. People have even commented about how lucky we are and that things could obviously be more severe. While that is certainly true, and we are immensely grateful for Jackson’s cognitive and physical abilities, we also have passed through the stages of grief and frustration every parent of a special needs child experiences.

Upon further interaction with Jackson, one would notice his lack of interest in carrying on a conversation. When “hard” questions like “What do you like to do?” are asked, Jackson becomes easily agitated. You may think it odd to find such a physically mature boy still clinging to his mom when he crosses a street, anxiety ridden that a car might approach. It will be concerning to see him have a meltdown when he didn’t get the first shower of the night or secure the middle bar stool at meal times. It will be easy to identify when medication in no longer effective and when ADHD, anxiety, and ODD take over. Yes, on the outside, our boy is not the typical, special needs child, but then again…. What is typical?

Our journey may be different from many of yours. However, I know a few things to be true. We all love our children and want desperately for them to be happy. We want them to be able to grow and mature and develop to their full capacity. We each have different struggles but I also know we each need support. Being a parent of a special needs child is often daunting; the therapy, the appointments, the procedures, the melt downs, the setbacks, and of course, the red tape. However, we also know the joys. We’ve met kindred souls who might not have otherwise crossed our paths. We are giddy with joy when our child speaks after years of therapy and silence. We celebrate each milestone and every acquired ability. And, we truly do know what it means to enjoy the journey.