Dear Friends and Family,
On Sunday (Oct. 13), I will be running the 2019 Chicago Marathon to raise funds for the Angelman Syndrome Foundation.
Thank you to all of our friends, family, co-workers and acquaintances who have supported Sebastian and The Angelman Syndrome Foundation (ASF) over the past 12 years. Thanks to your contributions, the ASF has made great strides in advancing Angelman research and continues its efforts to better our kids’ lives through therapeutics and, hopefully, a cure.
We want to share with you great news about Sebastian’s progress and hope you will once again consider supporting Sebastian through our fundraising efforts. To donate please go to: https://secure.e2rm.com/registrant/FundraisingPage.aspx?registrationID=4366609
Just four months shy of 15 years old, Sebastian has grown into a confident and more self-aware teenager. He continues to be the smart, fun-loving, affectionate kid he has always been. He's still a prankster and can find humor in things most would overlook. More importantly, he has found meaning and made it his purpose in life to bring people together. We call him the public relations arm (no pun intended) of the family. If he walks into a room and sees that two people haven’t said hi to each other, he will grab one and bring them to the other and not let go until they say hi, shake hands, or, if they are resisting, grab them by the neck and bring them together in a group hug. It doesn’t matter who they are, he wants everybody to come together. A neighbor recently told us of an elevator ride she had with Sebastian. It started out very quiet, everybody keeping to themselves, but ended up with everyone laughing and talking to each other. On several occasions, we’ve overheard neighbors explain Sebas to others. “He just wants to get everyone to say hi to each other” they say. It is quite disarming, because it is not only that he has embraced this as his role, but that others see and can appreciate the purpose in what he is doing. Just understanding that what he is doing has a purpose, allows them to see beyond the behaviors and see him as a person. As parents, there are few things that give us more joy than having others see in Sebastian what we see in him.
As most of you know, kids with Angelman Syndrome cannot speak. At his peak, Sebastian could say about 30 words, most of them with some assistance. His PROMPT therapy is what had helped him the most. Sebastian continues to get better at communicating his wants and needs through his iPad and can now even share some stories about his day. His communication skills have improved, but communicating verbally continues to be extremely challenging. Sebastian, seeing how Matias (20-months) has gone from being non-verbal infant to a non-stop talking toddler, has taken a renewed interest in talking. In an incredible sign of self-awareness, now, when he wants to say something (which is often), he will grab your hand and put it up to his chin, asking you to help him modulate. It's so exciting to see how much Sebas wants to talk, but at the same bittersweet to see how much basic daily functions are still so incredibly difficult for him.
Sebastian continues to attend Kendall Speech and Language as he has for several years now. He LOVES it and everyone there- and, equally important, they love him back! He receives individual therapies (ABA, PT, Speech) and about a year ago started spending more time with the kids from their Steps to Success program- a program with a school-like setting were education is provided in groups. Anyone who knows Sebastian knows that he thrives in a social environment and being among his peers has made everything click for him. His behaviors are down, he is learning faster, and, best of all, he has developed a strong bond with his classmates. A few weeks ago, we learned that thanks to the vision, generosity, and hard work of two families in the program, it is moving from its current location, which they outgrew, to a beautiful house on 1 acre of land not far from where they are now. By having the school located in a house, the students will continue to build on their academic skills as well as have a better space in which to practice their activities of daily living. The program has been carefully designed by the program’s director, and the parents of Sebastian’s classmates to prepare them into adulthood and eventually, more independent living. He is scheduled to start in November. Because he will be receiving academic instruction in the morning and therapy in the afternoon, he will have a regular school schedule (8am-3pm) and will learn the joys of school hour traffic in Miami as we make our way back and forth to school every day. We are all extremely excited about this new stage in his life. Throughout Sebastian’s life, there have been certain turning points that have greatly changed the course of his and our life for the better, we believe this to be one of them.
Sebastian’s swimming and water survival skills continue to improve. Thanks to Sebas’ perseverance and the expertise of his amazing swimming coach, he is now independently swimming the width of an Olympic pool. It has taken many years of hard work and practice for Sebas to get there, but he is finally doing it!
Another milestone was Sebastian’s participation, for the first time, in mainstream camp. This is HUGE! After spending most Friday afternoons during the school year learning to kayak (still a work in progress), his coach invited Sebastian to participate in the camp he offers over the summer. He not only opened his camp’s doors to us, but he also coached us and gave us the confidence to let him go. Although we were all worried the night before, true to his nature, Sebastian made his positive presence felt. He had a great time- he was the center of attention and met a ton of kids from our community!
The rest of the family is doing well. We are all excited about moving into our new home and continue to cherish living and discovering new things to love about Key Biscayne. Nico continues to get straight A’s and was recently accepted into the travel soccer team. Although he complains about being the middle child, in reality, he is not the middle, but rather the center of our family. He continues to be extremely helpful; caring up and down. Matias recently started the toddler’s class and, after the initial 5 minutes of crying at drop-off, enjoys his time at school. He has brought out a much tender side in both Sebas and Nico. Despite being exhausted, we are enjoying our new family dynamic (aka chaos) and watching the bond between our boys grow.
Thank you to our friends and family for your constant support (emotional, financial, and physical help). They say it takes a village to raise a child and you are our village. We would not have been able to make it one day without you. Many of you ask us how else you can help us. The reality is that raising funds for the ASF is one of the best and most concrete ways to help.
The Angelman Syndrome Foundation has been and continues to be a great support for our family, our community, and is one of the main forces behind the efforts to find a cure for our kids and better our future. Ever since we found out about Sebastian’s diagnosis, the Foundation has been there guiding us and providing us with tools to improve Sebastian’s life. The Foundation continues its partnership with Ovid Therapeutics to do Phase 2 clinical trials using a drug called Gaboxadol (OV-101) to treat some symptoms of Angelman Syndrome. Also exciting is the Foundation’s continued research into activating the paternal copy of Chromosome 15 using CRISPR and other therapies, such as gene therapy. We are very hopeful and excited about these new developments and thank all of you, who through your support have helped the Foundation get this far. For more information on all of the Foundation's great work please see www.angelman.org or https://www.angelman.org/wp-content/uploads/2019/08/Angelman-syndrome-therapeutic-pipeline.pdf
In honor of both Sebastian’s many accomplishments and his many daily struggles, we ask you, once again, for your generous support of The Angelman Syndrome Foundation. No amount is too big or too small. We will always be grateful. Please don’t forget to check for your company matching.
Thank you again!
John, Ana, Sebastian, Nicolas, and Matias