Unraveling a Mystery in Nebraska
The Combating Autism Reauthorization Act of 2011 would reauthorize the landmark Combating Autism Act (CAA) of 2006, securing the federal response to the national and public health emergency posed by autism spectrum disorders (ASDs.) Key components in the original landmark legislation will expire on September 30, threatening further federal support for critical research, services and treatment for ASDs. Families across the United States have shared how funding under the CAA has changed their lives and why it is so critical to maintain a strong federal role in research and treatment. Click here to learn more.
A conversation with Cynthia Schauss
Of the many enigmas that confront the autism community, understanding Phelan-McDermid Syndrome (PMS) has proven one of the most perplexing. In fact, just 600 cases have been identified, although the actual prevalence is believed to be far higher. PMS is caused by the absence of genes at the tip of the 22nd chromosome; the lack of the “Shank3 / ProSAP2” gene in particular is suspected as the primary cause of the symptoms associated with PMS.
Cynthia Schauss has come to learn about Phelan-McDermid Syndrome in raising her eight-year-old daughter Ashlyn in Bennington, NE, just outside of Omaha. Ashlyn’s developmental delays were not readily apparent, but her family knew she was struggling. Only because of improved genetic testing made possible through funding under the Combating Autism Act was the Schauss family able to obtain a PMS diagnosis for Ashlyn. This summer, Ashlyn will take part in stem cell research funded through CAA at Stanford University to broaden the knowledge about autism and Phelan-McDermid Syndrome.
We struggled for seven years to find out what was going on with our daughter. Doctors would tell us over and over again, “I have never seen a child quite like Ashlyn!” The medical field has not quite caught up with the diagnosis. We had to force the issue that something had to be wrong. It was important for us to get our doctors to understand that we wanted to do whatever we could to help our daughter.
The initial concerns for the Schauss family involved delayed speech and they began early intervention when Ashlyn was 2. At age 4, a psychiatrist recommended ADHD medications. An autism clinic reported Ashlyn was too social, although she did have other autistic characteristics. A genetic doctor believed Ashlyn had the most severe case of ADHD he had ever seen along with a possible case of dystonic cerebral palsy (CP.) An initial genetic test revealed no abnormalities.
We decided to redo genetic testing last June when Ashlyn was 7 and that test showed the partial Shank 3 deletion. We credit advancements in the genetic micro-array to aiding in finding the deletion as her deletion is so incredibly small.
For us, it’s important to partner with the school system to aid in understanding how to work with Ashlyn in a school environment and how to understand her disability. Part of Ashlyn’s issue revolves around a receptive language disorder. She is completely verbal, but has a hard time understanding what is expected of her.
As Ashlyn has aged, her traits of autism have become more obvious, as Cynthia related in a recent story written for the PMS Foundation:
At the age of 8, Ashlyn seems more like a 4-5 year old. Her delays are becoming more and more evident. She can’t ride a bike or participate in sports. She shuffles her feet when she walks. Her obsessive finger chewing and picking make her stick out like a sore thumb in a class of her 2nd grade peers. Reading, writing, and math seem like partially unobtainable goals.
After years of telling doctors and therapists that something was not right, we finally received a diagnosis. We’ve learned to cherish Ashlyn’s speech and verbal abilities. We love that she is mobile and that her motor impairments are somewhat mild. We struggle to understand why she can talk and walk and other children with the same deletion are mostly non-verbal or immobile. We hope that future research can shed some light on the diagnosing and understanding of PMS and autism.