Dear Family and Friends,
Brian and I wanted to share an update with you about Sara. A lengthy email isn't the most personal way to deliver this message, but we wanted to be able to give you all the information at the same time.
As you may know, Sara has been undergoing assessments and test the last several months in order to determine the cause of her developmental delays. We've had assessments, after assessments, an MRI, EEG, bloodwork, and more assessments with a multi-disciplinary medical team. We were relieved to find out her MRI and her EEG were both normal. However, our world was forever changed when we were told that Sara has Autism Spectrum Disorder (ASD) and blood work revealed that she has some genetic abnormalities.
Autism is a neurological disorder that affects a child’s language, social skills and behavior. No two children on the autism spectrum are alike. Every child is affected differently. Autism can range from very mild to severe...thankfully, Sara's appears to be on the milder side. She struggles with language and expressing herself, as well as social skills (interacting with peers, participating in classroom activities, play, etc) and repetitive tendencies.
There is no cure for autism. We are thankful that autism does not appear to shorten a child's lifespan. But, we now must prepare to face the likelihood that this disability will be lifelong. Specialized therapies appear to help. Sara will be starting a 25 hour per week special education preschool therapy program especially for kids with autism at the end of August. There, she will also be receiving Occupational Therapy to help with her fine motor skills, Physical Therapy to help with her large motor skills, and Speech Therapy to help her speech and language.
Researchers continue to study autism but have not been able to identify a clear causal factor. There have been some genetic variants identified but this does not explain why some children develop autism and other children with the same variant do not. Interestingly, genetic testing revealed that Sara has a micro-deletion on her 15th chromosome. She also has a micro-duplication of her 16th chromosome. About one in every 10,000 babies is born with two few or too many genes on chromosome 15. The likelihood that these babies will be on the autism spectrum is as high as 80%, making these rare genetic events a target for autism research.
Our Neurologist is referring us to Dr. Gregory Enns, who is the director of the Biochemical Genetics Program at Stanford University. We feel very lucky to be surrounded by such a dedicated medical team. He came highly recommended by our neurologist who feels like he will be able to shed more light on what these findings mean.
We hate that she is going to face so many struggles. We worry about her future in so many ways. We want her to have the biggest, fullest, happiest, most independent life possible. We want her to always be surrounded by love because, in many ways, love is always the best therapy. But we know how harsh and cruel the world can be for those who are noticeably different...and because of that we can't help but worry.
Brian and I wanted to share this with you. At the end of the day, it might seem like it changes everything, but it really changes nothing. Sara is still Sara...she just has a few new labels attached to her that will get her the help that she needs. Brian and I still have the same expectations for her despite ASD. It's a reason, not an excuse. She may need more help, or to do things in a different way, than typically developing kids, but she will be able to learn and meet those expectations.
We have found there to be a lot of misinformation floating around about ASD. The Autism Speak website has a ton of great information on it and we have found it to be a good resource.
We are learning and taking it day by day. I think it goes without saying, but this has been a difficult time for us. We are hopeful. There is so much to digest and figure out. Please be patient with us as we figure this out.
Jenn, Brian, and Sara
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