Leon ist nicht der Einzige Syngap-Betroffene, daher kommt jede Hilfe für ihn auch seinen Freunden auf der ganzen Welt zu Gute. Lerne einige davon kennen:
Sie kennen weitere Syngap-Betroffene? Kontaktieren Sie uns und werden Sie Teil unseres Netzwerks. Gemeinsam schaffen wir das!
© 2021 Leon & Friends e. V.
Benjamin ist ein lebensfroher, süßer Kerl. Er weiß immer, wie er mit seinem Charme alle um den Finger wickeln kann. Er hat eine große Begabung, Menschen ein Lächeln aufs Gesicht zu zaubern. Benjamin liebt Tiere, vor allem Kühe und Hunde. Laute Musik ist seine große Leidenschaft, gibt man ihm ein „Mikrofon“ in die Hand, „singt“ er laut seine Lieder. Seine zweite Leidenschaft gehört den Hockey spielen.
Neben Schwimmen und Tauchen liebt er auch Obst und Gemüse. Seine beiden großen Geschwister sind seine Vorbilder und er versucht fast alles, was sie machen, nachzuahmen. Benjamin hat einen großen Willen und er ist ein noch größerer Kämpfer. Er zeigt immer wieder, dass man alles schaffen kann, manchmal braucht es nur ein Bisschen Geduld.
Zu den täglichen Herausforderungen gehört, dass er keine Gefahren einschätzen kann und immer wieder einfach losrennt, wenn er etwas sieht, was seine Aufmerksamkeit gewonnen hat. Seit kurzem lernt er mit einem Talker zu kommunizieren. Kleine „Anfälle“ sind oft da, wahrscheinlich leider viel häufiger, als wir merken. Denn auch Essen kann „Anfälle“ auslösen. Nicht jeden Anfall können wir mit bloßem Auge sehen, daher werden in regelmäßigen Abständen EEG’s gemacht. Die Diagnose bekamen wir im April 2017, damals war Benjamin genau 4 Jahre und 1 Monat alt. Fast zwei Jahre tappten wir im Dunkeln. Es war jedoch sehr gut, endlich einen Namen zu haben für das, was ihm fehlt: SYNGAP1.
In 2012, we received life-changing news. Our four-year-old son Beckett, who had a history of developmental delay, was diagnosed with a rare genetic condition. Genetic testing at Texas Children’s Hospital revealed that Beckett had a change in SYNGAP1. Only five other cases had been diagnosed at the time, and Beckett’s was the first known case at Texas Children’s diagnosed. Mutations on the SYNGAP1 gene had been linked to intellectual disability and, in some cases, autism. However, at the time little else was known about its impact. Doctors presented a grim but hazy picture of Beckett’s future. Physicians could us very little about what the diagnosis meant for our son, except it was the cause of his intellectual disability. That’s when we started our journey to find treatments.
Beckett had a long road to get to a diagnosis. Weldon noticed early on that Beckett wasn’t developing like his twin sister, Pyper. He couldn’t sit up or roll over when Pyper could; he was kind of like a floppy noodle. At his six-month checkup, Beckett, diagnosed with developmental delay. Doctors prescribed physical and occupational therapy, but his symptoms continued. Over the next few years, the family saw nearly a score of specialists and underwent a slew of tests, including CAT scans, MRIs and EEGs.
At five years old, a 24-hour EEG test finally confirmed what his mother had suspected for several years. Beckett was having absence seizures, a type of brief seizure characterized by staring spells. Once we realized he was having seizures, things started changing for us.
After Beckett’s diagnosis, I began reaching out to scientists and physicians who might have expertise in SYNGAP1. I had begun to blog about Beckett and his diagnosis, and other families with SYNGAP1 variations soon reached out. That turned into a Facebook group, which turned into the organization that we have now.
This is a lifelong calling to help not just my son but others like him.
Tyler is three years old. He gives the best cuddles, has the biggest smile and loves to make people laugh. He can navigate a dark room with no problem and is very mischievous… always a step ahead of us when it comes to doing something he is not supposed to do. Ty is determined and works really hard (10 hours therapy per week). He will not let Syngap get in the way of doint something he really wants to achieve. It will take time and lots of effort but he will get there!
Ty’s Main Challenges:
Motor Planning, Sensory Processing and Apraxia. His biggest challenge is his speech, he knows what he wants to say but his brain doesn’t send the right signals to form the words.
Ty’s Favorite Things:
Water, music, animals, food (chocolate, pizza, yogurt are his top favorites), wheels and fans, trains, helicopters and fire trucks, lights, running and dancing
Jaeli and Dali Williams are gorgeous and cheeky little girls who have the standard challenges that come with Syngap. Their biggest challgenges are seizures, autistic like behaviours, communication difficulties and poor motor planning. Danny and Danielle advocate for genetic testing and are chasing a cure for Syngap.
Jordyn is eleven years old and lives in Australia. In 2015 she was diagnosed with Syngap. Jordyn loves playing doctors, animals, babies, swimming and her iPad. Jordy struggles with regulating her emotions, communication as well as her fine and gross motor skills. She also has anxiety, which can limit her participation, but when she is happy her smile and mood can light up the room.
John is a three year old boy from Minnesota, USA. He loves Mickey Mouse Clubhouse and anything that has motion. John enjoys being outside and long walks in the woods. He also enjoys water! John suffers from uncontrolled seizures, intellectual disability, autism, global delays, anxiety, aggression, and he is nonverbal.
