SynGAP diagnosis in Sweden: Caspian’s Story

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Chloe is an Aussie living in Sweden with her husband and children.  She is a runner, an outdoor enthusiast and horse rider who was on her way to being a nurse. Now she is thinking more about starting a riding program for people with special needs. Her son, Caspian, has a spontaneous genetic variant in the SYNGAP1 gene that causes his disease.

Chloe is currently raising funds for a research project, you can support it here.  There is also an article about her in the Swedish Press.

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When I look into these eyes, I see a world of adventure and curiosity. I see unlimited potential and a whole galaxy of love. When I first met this boy he looked up at me from my chest with his deep blue eyes, and it was as though I could see his words ‘I love you, and, right here, I feel safe..’ Now even today, three years later, my Caspian does not speak, but he still communicates so clearly through his eyes.

Caspian’s challenges started to become clear around six months of age when he could not and would not try to eat solid foods. When he was eight months old, I mentioned to our child health nurse the struggle of introducing foods to Caspian. She shrugged this off, and I was told to keep trying different foods and to let him eat off my plate.

By the time he was twelve months old, I was feeling desperate for help and asked my husband to follow me to our next check-up with the child health nurse. We walked in with a list of developmental milestones Caspian was struggling with, at the top of which was still eating. Caspian was breastfeeding exclusively and missing out on all vital nutrients a one year old needs. Our nurse listened to our concerns and referred us to a child health doctor, finally.

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We were so excited to meet the child health doctor, ready for help, hoping our son would begin to eat and be nourished with food. Unfortunately, that did not happen. The doctor asked us to put Caspian on the floor with some toys, and she watched him crawl around, play and smile. The doctor looked at us and said, “Your son is fine and healthy, I understand parenting can be exhausting, perhaps the mother needs some therapy? Someone to talk to?”

I walked out crying, feeling helpless, and as though I was doing everything wrong as a mother; however, my husband believed in me. As an Australian living in Sweden with poor Swedish skills at the time, I feared that I would continue to be ignored, but my husband made sure that didn’t happen and wrote a letter to the doctor demanding more help.

The doctor responded to our letter of concern and sent our son to another child specialist.

From then on, Caspian had weekly visits with speech therapy and physiotherapy. And, after a few months with the habilitation team, Caspian was diagnosed with Autism. At 18 months of age Caspian started eating for the first time and by 2.5 years of age he was eating enough to stop breastfeeding safely.

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Very soon after Caspian’s autism diagnosis, we were accepted into the Swedish IBT program (the equivalent of ABA).  Caspian has truly thrived in this program and has developed amazing skills in communication, imitation and new motor skills. The team we have here in Sweden have been a huge part of Caspian’s success in all his milestones!

Sadly, we had a little turn back in October 2019, when what we thought was autistic stimming behavior turned out to be epileptic seizures. We had noticed Caspian’s eye rolling months before and asked the doctors about it, but they had dismissed it as stimming behavior. It wasn’t until he had his first drop seizure that we took action. Our hearts sank with worry as Caspian was rushed in for testing and diagnosed with epilepsy.

Caspian started medication right away; however, the first medication did not help at all. Soon Caspian was having clusters of drop seizures, hundreds per day, so we were told to go to the emergency room to break the cycle.

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One medication was introduced, and another… The third reduced seizures, but not completely, so Caspian was sent in for more testes. They took CT scans, did a spinal tap, recorded an EEG and — luckily — ordered genetic testing. All the first tests came back normal, and we had to wait a few months for the genetic testing results.

In May 2020, our beautiful son received a new diagnosis: Syngap1 syndrome. Even though this was a huge surprise for us, this new diagnosis gave us answers to why Caspian has such difficult epilepsy, autism and developmental delays.

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Caspian is a very happy and playful little boy. He laughs and loves cuddles from those who are close to him. Water has always been his favorite! Right now, water is his relaxation: when he has seizures, a bath relaxes him and his seizures seem to pause, briefly. He also loves the trampoline and he has just recently learnt to jump by himself with the help from his big sister, who is usually teaching him fun skills! Another passion of his is dancing and music — Caspian’s laugh and smile can melt anyone’s heart when he dances with you.

Please enjoy this video we made about Caspian.  Also, we are currently raising funds for research that will benefit Caspian and all patients with SynGAP, you can support it here.