Angels in Action – Sebastian

Getting the diagnosis of Angelman Syndrome can be one of the most devastating moments for a family to go through. I still remember how confusing and terrifying it was for us. After receiving the diagnosis, we have lived through our biggest fears, our most excruciating pain, but what’s most important, we have also lived through our biggest moments of happiness.

Sebastian was born 9 years ago. He was diagnosed with Angelman Syndrome (del+) shortly before turning 3. It took us three years to find out. On one hand, we were relieved to finally know, on the other, it was hard to hear that kids with AS had such a difficult prognosis. In the midst of all our pain, we decided that we weren’t going to let the prognosis lower our expectations for Sebastian. We weren’t going to let anyone, but Sebastian himself, tell us what he would be able to do in his life.

We knew that it wasn’t going to be easy, but we were determined to explore every possible option available to us in order to give Sebastian all of the tools that he needed to become who he wanted to be.

Early on we decided to expose Sebastian to every learning opportunity possible, every activity, every therapy or every alternative treatment that we could have access to. Our plan of attack was to give every experience, therapy/treatment a 3 month try. After three months, we would re evaluate and either stop or continue depending on how much we felt it was helping Sebastian. In his 9 years of life, Sebastian has done an innumerable types of therapies such as: Anat Baniel Method, PROMPT Speech therapy, ABA Therapy, Brain Integration thechnique, Hypotherapy, Acquatherapy, Craneosacral Therapy, Ostheopathy, Sensory Integration Therapy, MEDEK, Patterning, Listening Program, NDT, PEC System, AAC implementation as well as Regular OT, PT and Speech. He has also done treatments such as the Low Glycemic Index Treatment (LGIT), GFCF diet, DAN doctor protocol/supplements, Acupuncture and Homeopathy among others. Not all of the above were good enough for Sebastian to continue. I wish I could talk about each one of the treatments / therapies that have been helpful for Sebastian but for now, I will detail only the ones that have had the most significant impact on Sebastian’s life.

We started therapy with Sebastian when he was 7 month old, as soon as we realized that he wasn’t meeting most milestones. Sebastian’s progress was very slow on all areas so after a long try with doing the more traditional kind of therapies, we decided to explore other options. We started the Anat Baniel Method/Feldenkrais Method with Sebastian when he was 18 months old. Regular physical therapy wasn’t doing much for him but a few months after starting The Anat Baniel Method, Sebastian learned to crawl and soon after (at 2.5 years old) he started walking. We noticed how Sebastian went from being an 18 month old baby that didn’t know his body in space, had no motor coordination and was terrified of moving to a kid with balance, strength and great body awareness. Knowing Sebastian’s motor difficulties then, I would have never imagined that his walking and motor skills would become as smooth and as strong as they are now.

Speech therapy was a nightmare when Sebastian first started. Sebastian was 13 months old and couldn’t care less about what the speech therapist had to say. At 18 months, we researched another approach that would be more meaningful for Sebastian and came across an amazing technique called PROMPT therapy. PROMPT (Prompts for Restructuring Oral Muscular Phonetic Targets) is a speech therapy technique based on giving tactile cues to the mouth (jaw, tongue and lips) and manually guiding the mouth to make a specific sound or word. The idea that through touch we could teach Sebastian’s (low muscle tone) mouth and lips understand how to move, sounded perfect for him. Also, PROMPT is one of the most successful types of speech therapies used for kids with apraxia.

Considering that our kids have motor apraxia, made it another good reason to try it. Initially Sebastian was very defensive. He had lots of sensory issues so he couldn’t stand having someone touching his face. It took him quite some time to be comfortable with it, but suddenly the most amazing thing happened….Sebastian said Mama for the first time! He was 23 months and since that moment, every time someone wanted to hold him he would hold up his arms to me and say MAMA!!! That was probably one of the happiest days of my life. I remember it clearly as if it had happened yesterday. Being able to say MAMA meant much more for Sebastian than just being able to get my attention. For him, the realization that he had the ability to make a specific sound and that sound be so powerful, is what made a big difference to him. Adding more words to his repertoire was a slow, gradual process and a huge learning experience for all of us.

We all realized that we had to trust what we heard from him. Whenever we thought that we had heard a word from him, we would make sure that everyone emphasized that word through out his day. This way the word would become clearer and he would start using it more regularly.

I still remember when (at around 4 years old), Sebastian had learned to produce the “K” sound. One day I briefly heard him say what sounded to me like “come” (while looking at me). I was in shock and in disbelief, but I decided to trust what I heard. I started using the word “come” in every opportunity. I would ask him to “come” and would ask him to ask me (an everyone else) to “come” while giving him the tactile prompt (the tactile cue would help him understand how the sound was produced in his mouth). He was so reinforced by having people run over to him when hearing him said the word “come” that it quickly became one of his most used and clearest words.

I always like to make sure I explain how Sebastian’s word production is so that people don’t get the wrong impression that Sebastian communicates with us by using his words. I wish that were the case, but it’s not. Sebastian can currently say about 40 words, however, he only uses about 10 of those words completely spontaneously to communicate. He can spontaneously say mama, papa, hi, bye bye, come, iPad, give me, more, good and open. Those 10 words tend to be very socially rewarding words for him, so (being such a social boy) the words were very meaningful and easier to learn. He says about another 25 words, by either filling in the blank, by looking at the object, by hearing the first sound or by a slight tactile prompt. He needs a lot more tactile help to say the other 20 words. Word production requires a great amount of processing and coordination for Sebastian so he is very inconsistent with it. He doesn’t use all of his words to communicate yet, but the more that we help him, the more his words become spontaneous. He feels a great amount of pride when people understand what he says He was the proudest kid in the world when he learned to say his nickname “Seba”. Also, I think both him and I were in total shock the other day when he had a brief 2 way conversation in the elevator with our neighbor. It went like this:

Neighbor: Hi Sebastian, how are you?
Sebas: Hi
Neighbor: How was school?
Sebas: Good, good
Neighbor: Great! See you later, Sebastian.
Sebas: bye

We have worked really hard in helping Sebastian learn to produce words, but have worked equally as hard in helping Sebastian communicate with alternative methods of communication. Sebastian started using PECS when he was about 3 years old (I wish I had started earlier). He got it right away and did very well with it until the iPads came out and we transitioned him to using Proloquo2Go on the iPad. He currently uses Proloquo all day at school and sometimes at home. He not only uses it to make requests, but is starting to use it to make comments as well. I know that he can do a lot more with it. We still have a long way to go in incorporating his AAC more seamlessly into his and our life. We are in the process of learning to do better modeling and to have him feel more and more comfortable with it. This will be a life long learning process for him and for our family.

ABA therapy has also been an amazing therapy for Sebastian. The key with ABA therapy for us has been to find the right type of therapist. One that is fun, flexible and that can truly adapt to Sebastian’s personality, likes and dislikes. We have been lucky enough to have found not only a great ABA based school, but also an incredible home ABA therapist that has always made every learning experience all about Sebastian, not about the data. ABA therapy has been a great help in every area of Sebastian’s development. Thanks to ABA Sebastian has learned to concentrate, to play better with toys and has learned to enjoy learning.

We know that none of Sebastian’s learning would have taken place if we hadn’t started Sebastian on the LGIT Diet (Low Glycemic Index Treatment Diet). Seizure control has been the most important factor in Sebastian’s development and we are forever grateful to Dr. Ron Thibert and Heidi Pfeifer for guiding us through this process.  The LGIT diet allowed us to not only control his seizures, but also, lower his medication and all of its related side effects. A few weeks after starting the diet, we noticed that he was more aware of his surroundings, was stronger cognitively and was in a better position to learn. It has been life changing for Sebastian and for our whole family.

Sebastian is a great example of resilience. He works hard every day of his life and he does it with a great smile and a great sense of humor. Every day Sebastian teaches us, through his hard work and his ability to continue to fight through his challenges, that no matter what comes our way; we should never feel defeated and never give up. We are a much stronger family today than we were 6 years ago thanks to everything that we have learned from Sebastian. It hasn’t been fun a lot of the time. It hasn’t been exactly what we had expected our lives to be. But what’s important is that after all these years, we are still working hard, loving each other, and learning to laugh at the curve balls that life throws at us.