Mom Spreads Awareness About Rare SYNGAP-1 Gene Disorder After Son’s Diagnosis

May 27, 2014

In November of 2012 we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene (6p21.3).  I didn’t know whether to cry or breath a sigh of relief. He was the first to be diagnosed at Texas Children’s Hospital Genetics Clinic.

Some of the symptoms of this disorder are seizures, schizophrenia, moderate to severe mental retardation, speech delay, and autism type behaviors. Beckett has been in multiple therapies that include OT, PT, Speech therapy, play therapy and music therapy.

I knew that something was not right when Beckett was 4 months old. He was not sitting up or meeting the same milestones as his twin sister. I began my search for an answer beginning with my general practitioner, then adding 19 more specialists to the list since his birth. After many tests such as an MRI, EEG, Cat-scan, Microarray and metabolic tests at 2 years old we found out everything was “normal.”  But we knew that it was everything but “normal.”

He was unable to walk, feed himself, babble or talk. We waited 14 months to get an appointment to have an evaluation at Texas Children’s Meyer Center for Autism. They concluded that our son was going to have intellectual disability and a severe speech delay, but still no real answers. The Meyer Center then referred us to Texas Children’s Genetics Clinic for Whole Exome DNA testing. We were very blessed to have our insurance cover the cost of the test.
After the diagnosis I decided to help our son and myself and began to blog about his progress and try and raise awareness of SYNAGP and find others like him.

When I posted our diagnosis on my son’s blog I began to reach people from all over the world who were like me. I have created an information page through Facebook that is strictly about research on SYNGAP and brain based research that is related to SYNGAP. Another parent and myself have set up a closed Facebook group for parents looking for support and a place to talk about our children’s medical progress and challenges.

As the whole exome test becomes more common we see our group growing worldwide. The network we have created in this group has brought several international doctors together to work on research to define our rare disease and continue research to help find a treatment that will help our children. A group of parents from the Facebook group are now working to establish a nonprofit for SYNGAP and raise awareness and fund research. I have to conclude that the journey I am on I wouldn’t change for the world. I have learned more about myself and the love I have for people that I never thought I would have if I had not been placed in this situation. I am very grateful and appreciate life more than I ever have.

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