The Ind’s story

Hannah was born in what I now think of as a perfect Syngapian way: at 2am and in the bath. Little did we know the love of night wakings and water would stay with her for life! 

At 12 months I noticed her eyelids fluttering a couple of times and asked my paramedic husband, almost as a joke, if they were seizures. He assured me it was nothing and we continued along happily.

Hannah continued to fail to meet her milestones and at 2 years old she wasn’t talking or babbling, not walking and she had only just learnt to crawl. She was then diagnosed with Global Development Delay and she was also diagnosed with Autism Spectrum Disorder – a diagnosis that covered some of Hannah’s issues but not all.

At three she started having tonic clonic seizures which were heartbreaking. She would rush to me as if she knew what was about to happen, start jerking and then vomit and pass out. I have been vomited on in the car, in the GP’s office and at friend and family’s houses – I quickly learnt to bring a spare change of clothes for both Han and myself! I never got the seizures on film as I would be too occupied with helping Han but thankfully we have a great paediatrician who believed me and put Hannah on her first anti seizure med Epilim. The Epilim stopped the tonic clonic seizures but also made Hannah incredibly aggressive, and didn’t stop her absence and myoclonic seizures.

Meanwhile she was now 4 years old and still largely non-verbal, in nappies and had sleep and behaviour issues. She would wake anytime from 2 – 4am and that was when the day began. She would also spend a large part of the day screaming and hitting herself and other family members, and the assistance dog we had gotten her.

In 2017 when Hannah was 4 we were encouraged to get her a full genome test to see if there was a genetic disorder that could explain more of Hannah’s symptoms. In January 2018 we got our answer – SYNGAP1. When Hannah was diagnosed there were less than 200 known syngapians in the world.

Immediately we were linked in with families both in Australia and overseas and found a world of connection and knowledge. On Danielle and Danny Williams’ recommendation we were able to see neurologist Professor Ingrid Scheffer who specialised in complex epilepsy and had worked already with two syngapians, the Williams girls, Jaeli and Dali. Under Ingrid’s guidance we changed seizure meds which stopped the aggressive behaviours that Epilim brought out in Hannah. She is now on two anti-epliepsy meds and her seizures are 90% controlled.

Hannah is now 7 and in a really good spot. She is still mostly non-verbal with 20-50 words and signs. She is in nappies and is still dependent on others for self-care and feeding. She is still small (on the 3rd percentile for her age) but is following her growth curve. Sleep is still an issue despite using medication to help her fall asleep. Her rages are less than they were and she is now able to communicate to some degree with those closest to her. She can run and jump and play and her smile lights up the room. Wherever she goes she wins hearts.