Angelman Syndrome; needs to be redefined

At the age of 13, Jess was diagnosed with Angelman Syndrome. Of course, I knew nothing about it and I did what every parent does, researched. For a split second, having a diagnosis was incredible, especially after waiting so long for one, but then when I read the prognosis for AS, I felt like it was a sentence.  The majority of AS were considered developmentally delayed (which replaced the word retarded), were child-like, always happy, not able to have independent living skills, etc. This stopped me from wanting to read. All the “experts” said what my child couldn’t do, there was nothing about capabilities. The symptoms we related to were: fair skinned, ataxic gate, severely apraxic, globally delayed and seizure disorder. However, there was one piece of information that I clung to. “AS has a higher receptive language than their functioning abilities”. When I refer to “functional abilities”, I mean that fine, gross and verbal skills are weak (or they may be non-existent). Receptive language, the ability to understand was far greater. At this point, I shunned the AS community because I felt they didn’t give me much to work with, but that left me with just the educational system for support.

Unfortunately, our educational system has a fundamental flaw.  “The tradition in American education is to assume incompetence”.  “Students “become”” mentally retarded on the basis of their performance on intelligence tests and adaptive behavior scales”.*   From the start, this model is stacked against all children, not just those with developmental disabilities.  Looking back, and really, not that far back, when Jess did show a glimmer of ability, this was referred to as a “splinter” skill. This was the prism the educational community used to view my daughter!

Right now, I’m dipping my toe back into the water. I’m in fact finding mode.  It’s exciting to find that there is an international movement at play whose mission is to change how AS is defined.  Unless we see potential, there is no room or expectation for growth, thus we need to clean house of the myriad of myths that had been assumed as hard facts. They remind me of the disclaimers we see on TV with regards to prescription drugs. If we experienced all of the side effects, would we take the meds?

We were told by a developmental pediatrician to “have another child and be happy” implying that there was no hope for our daughter. We were told she was severely cognitively impaired. She would never read, work or live independently.  Because she was AS, she would “always be happy, laugh inappropriately, have no self awareness or the ability for self-care. We were told she would not be able to learn and as she got older, she would develop behavioral issues.  It seems other parents who have AS children have been told the same thing.  Unfortunately there were/are websites, teachers, therapists and other AS parents that accept and focus on limitations.  Just like a rumor, there is a thread of truth, however, we need to discourage the simplified, generalized perceived characteristics.  Most times, you get what you expect. If you weren’t gifted in certain areas, you are going to have to work like Michael Jordan. This doesn’t mean you will reach his level of success, but if you don’t keep working at change, I guarantee change will never come.

One of Jess’s labels was globally delayed.  This was true. Most of her milestones were “delayed”. She is now 22 and we are seeing growth in all areas. Yes, she has things that are difficult for her and there will be some things that she may never do, but we are not defining her by the box that old AS definition has put her in.

Someday, I hope, when parents are given the diagnosis AS that they realize there is a wide spectrum. We were told  “never would, never could”.  With that approach, you “never will”.    We will only learn what is possible by presuming competence and by seeking the supports the child needs in order to find success.  Just as you aren’t able to determine what 2nd grader will go to an Ivy League college, there is no real way of knowing how far a child with Angelman’s will go.    I’m saddened to realize all the ways I succumbed to pressure, but now, all I can say is game on!


*Douglas Biklen and Jamie Burke. Presuming Competence. As found in the Angelman Network.

Two things I feel the need to add.  When Jess was finally given the correct diagnosis of AS, the following IEP, school persuaded me to change her from an educational track to one for living skills.  I didn’t connect the dots till recently (2016) the connection between her diagnosis and the vision school had for her.

Angelmans manifests in varying degrees and no two angels are alike.  It’s my opinion verbal ability is not an indicator of intelligence. As Jess’s language grows (she uses an app called Speak for Yourself), she has shown us that she is listening and thinking.  She even showed us that she can read signs. My belief is just because someone is non-verbal, doesn’t mean they aren’t answering you in their head and that the physical limitations prevent them from getting their words out. There have been times I’ve felt so poorly that it was hard to put a sentence together much less want to talk. Whose to say that the seizures and other physical issues that our AS kids go through aren’t also taking the umph out of them?  When Jess tries to use her voice, it is too much effort, too frustrating.  It doesn’t mean that she doesn’t have anything to say.  We do know what our challenges are, but we don’t know what our full potential is.  Jess will always need supports, but our goal is to encourage her to be as independent as possible.  She’s already exceeded expectations.

Learning never ends! Don’t stop talking, don’t stop teaching and don’t stop asking them to try new things.





10 thoughts on “Angelman Syndrome; needs to be redefined

  1. Great article! Jess taught me so much more about teaching than any college textbook or class could. Because of her, I learned to set higher standards for my students rather than assuming that they couldn’t do something based on previous academic and physician reports. I am so glad that I had her in my class in the beginning of my teaching career. She is so lucky to have such a supportive and perseverent family. You guys are all positive role models for teachers, students, therapists, parents, and physicians!

    • Oh Alyssa, you were the first person outside of the family that Jess spoke to. I think she said more to you than anyone else! You were a light that kept us going. I just wish all her teachers were more like you!

  2. Always enjoy reading your words of wisdom. Your week of AAC had a profound effect on me and provided a real reality check in regards to the necessity for modeling.

    • Modeling is not something that comes natural. There have been too many times that I have not modeled. I hope that blogging reminds me on a daily basis that I cannot rest on my laurels 🙂

  3. Thank you for this post. So powerful. You spoke to my heart. I think that AS kids are where DS kids were 20 years ago – unfortunately.

    • Agreed. That analogy has run through my head too. However, to our advantage, we can share information so quickly now. I wish it didn’t take me so long to come up to speed.

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