One of the many steps Brent and I had to take to get Sean’s Autism diagnosis was a highly recommended genetic test. Dr. Hans Swingle, Sean’s developmental specialist, explained to us that there are many other complications that can come along with Autism and that a genetic test can help us determine those possible issues sooner rather then later. Brent and I played with this idea for a few weeks since we would have to travel a good 5 hours north to the UAB Genetics Department. We were unsure as to how important of a role it would truly play for Sean. After Sean’s MRI and EEG came back with some abnormal findings, we decided the trip might not be such a bad idea after all.
Along with an Autism diagnosis, Sean was discovered to have a rare genetic disorder as well. On April 5, 2018 his genetic doctor, from the University of Alabama Birmingham (UAB), called to give the results of his genetic testing. I never in a million years thought I would be able to memorize, let alone recite 7q11.23 Micro-duplication Syndrome. Sean’s genetic doctor, Dr. Anne Hurst, wanted to make it clear this is not the same diagnosis as a more well known one called William’s Syndrome. William’s Syndrome is a micro-deletion (missing genetic material). 7q11.23 is a duplication (more genetic material) in a specific area of his chromosomes. In the event that you choose to look up any information on the subject both diagnosis will show up. Typically together since both are found in the same area of your chromosomes.
Now all the questions: What is it? What Are the Signs or Symptoms? What Does this Mean for Sean?
What is 7q11.23 Micro-duplication Syndrome?
The medical definition given by the U.S National Library of Medicine is ” A condition that can cause a variety of neurological and behavioral problems as well as other abnormalities” (Genetic Home Reference). In other words Sean’s genetic make up has too much material in one chromosomal area causing his neurological issues and possibly some of his behavioral issues.
( Another great reference page is GARD Genetic and Rare Diseases Information Center)
Signs and symptoms
Neurological problems: Delayed development in speech and communication, fine and gross motor skills, under development of the brain (find out through MRI), possible fluid on the brain.
Behavioral Problems: anything ranging from Anxiety disorders, Attention Deficit Hyperactivity Disorder, and Autism.
Other Abnormalities: Enlarged Aorta, seizures, abnormalities in facial features, ect.
What does this Mean for Sean?
We already know Sean has autism. We of course received the official diagnosis in May. What this genetic diagnosis gave us though was more clarity on why his MRI came back abnormal at the beginning of the year.
In one of my first posts about Sean I spoke about his underdeveloped Cerebellum and the fluid sitting on top of if. Now, I am not a doctor but my limited understanding, from his neurologist, is that this is the area of the brain that directly correlates with his fine and gross motor skills. Now we know where this is coming from. Thank goodness! I am a girl who wants answers and that explained that. His motor skills are coming, it might be slower then most but he is definitely making progress. As of today he can walk, walk very fast (he thinks he is running), and climb. He can not for example throw a ball, jump, scribble with a crayon (although he is starting to show more interest), or feed himself with a spoon or fork. (But that is why we have him in Occupational Therapy)
7q11.23 syndrome and Autism also explains why Sean is so delayed in his speech and communication skills. This was definitely an area we were, and still continue to worry about. In all the research we have read it seems that speech will come. It will just come in its own time. I will gladly take that. It will just take time, patience, and therapy.
Thankfully, because of the concern for autism we were able to set up Early Intervention quickly. Sean is starting to communicate more. He might not be able to use his words yet but he talks to us in other ways. When he needs his mommy, daddy, or Charlotte time he comes and snuggles and gives his hugs. When he wants to go outside to swing, he will drag you to the door and place you hand on the knob. Most recently he has even started to bring you his shoes to tell you its time for outside. When he needs his quiet time he goes to the playroom to watch his cartoons.
To wrap this up, every Autism case, is again different, but I do believe genetics plays a big part in our Journey. Thankfully, Sean’s future looks very bright with the help of different speech and occupational therapies. I have spoken to a few other Autism mommies who use Applied Behavior Analysis (or ABA) therapy and have seen great results. I have a feeling that will be in our future, but I have not started to look down that road just yet.
I hope this gives a little more information on his genetic diagnosis since I briefly discussed it a few posts back. I felt it needed its on post since it was pretty lengthy. Please if you have any questions or comments leave them below. I hope you have an amazing day! Until next time!
Katlyn- A Gulf Coast Mommy