"When one door of happiness closes, another opens;
but often we look so long at the closed door that we do not see the one which has opened for us."
Helen Keller

Tuesday, June 7, 2011

Genetics Follow-Up

I spoke with U of I Pediatrics Genetics this morning to follow up on the results of the bloodwork we sent in for Mike and I several weeks ago.  With all the excitement with the move, new babies, and end of school year, I had forgotten about this until another ASD mom mentioned their results on Facebook.  Anyway, when I called this morning, the supplemental report stated that the duplication that was found in Brycen is also found in Mike which means while it is inherited, this specific duplication is not a direct cause of Brycen's Autism otherwise Mike would also be on the spectrum. 

After speaking with her and then calling Mike to report the results, it still lingers in my mind that Mike had a speech delay when he was younger also.  Though the delay did not accompany other Autistic behaviors/symptoms, it was still a significant delay.  The chromosome that is duplicated is in the area of memory, language, and learning.  Is this just a coincidence? 

Also, dementia has been in both sides of our family (my paternal grandmother and Mike's maternal grandmother)...could this duplication be in Mike's family?  Could I also carry a gene that when mixed with Mike's genetic make-up, it puts our kids at higher risk of dementia later in life?

Genetics is absolutely fascinating to me!  I don't think my questions will ever end with this.  Obviously, genetics is not the key at this time to determining Brycen's Autism, it is still important that we continue to follow up with our genetics physician every year.  This gives us the chance to have more testing done as it becomes available and possibly get answers some day whether there is a link to genetics or not. 

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Autism and Our Family

"Autism"----It's one word that can change the life of a child and family in so many ways. Autism Spectrum Disorders are being diagnosed at a rate of 1 in 68 children currently. If you do not already know someone that has been diagnosed, the statistics say it won't be long before you do.

Our son developed typically until around the time he turned 2 years old. We heard words...we saw him play with other kids...we watched as he played with his toys appropriately...we made eye contact with him...overall we understood his wants and needs. In a matter of a few months, that was all taken away from him. He began lining up toys, lost all of his words and signs except for one word "ball", ignored other kids, could not sleep through the night, lost eye contact and the ability to follow directions, and he had no way of letting us know what he wanted or how he felt. It was heartbreaking to see something happening to our child that we couldn't stop!

Brycen began receiving home therapy 1-2 times per month for about 6 months before we realized it wasn't just developmental delays. We knew it was Autism...we just didn't want to say it outloud to anyone. He was officially diagnosed with Autism (classic form and regressive), as well as Mental Retardation in August 2009 by the University of Iowa Hospitals and Clinics.

We continue to learn as we make our way through this journey with Brycen and we will continue to share this journey with you on this blog! The blog has been a great therapy for us to be able to vent our frustrations and struggles with accepting that we have a child with special needs, while sharing how blessed we are to have a child teach us what life truly means. It has also been a great way to inform others of his progress and changes over the last couple of years.

Thank you for your support of Brycen and our family! We hope you are able to learn something through this blog no matter if you are a parent of a child with special needs or a neurotypical child, a teacher or therapist, a family member, or just someone that is interested in the journey that a family goes on as they learn their child is battling a life-long disorder.