My pregnancy in 2017 was going well, until one day I asked for a late term check as I had not felt much movement. The baby was fine, but the ultrasound suggested that part of my baby’s brain was missing (one month out from her birth). I was sent for an emergency MRI; this scan revealed that the brain was all there, however, one small part, a membrane, was slightly disfigured. We met with the neurologist who explained that it was unlikely to be anything much. We were warned of the chance of slight learning difficulties and potentially epilepsy. Adelaide was born in April 2017, and was a beautiful baby who fed well. As time went on, I noticed her milestones were very behind, right from her not lifting her head or rolling or pushing up as a baby would be expected to do at such an age. By one I took her to a neurologist and we were told she appeared to be lazy. I continued and flew her to another state in my country, New South Wales, to get more opinion. All I was able to do was discount SMA2 and other terminal illnesses. I started physical therapy with her at age 1. She did not learn to crawl until age 2. She had limited single words and they weren’t being used meaningfully. She could surprisingly read letters of the alphabet and also count to 10 despite her very poor language development. My concerns continued and I went to various doctors. Eventually the original hospital and neurologist we’d seen when Adelaide was one, sent us for genetic testing. By march 2021 we received our diagnosis - just before her 4th birthday. Adelaide’s dad disappeared after her little sister’s birth in 2019, presumably from paternal depression associated with the stress of a child with disabilities. We received little assistance until I was able to secure NDIS funding (government assistance) to start helping with the cost of physical therapy, speech therapy and occupational therapy. By July 2021 Adelaide had a 45 minute seizure. I suffered significant ill health myself taking care of Adelaide and her sister with no support anywhere. The NDIS would not give me funding for respite. I had a breakdown from long term lack of sleep and stress. I would soon learn Adelaide’s prolonged seizures were the new normal for us any time she had a fever. Covid struck Australia and became one of the illnesses that cause her to have a seizure. The seizures don’t stop with home administered medazolam and require ambulance intramuscular injection. She stops breathing and also sometimes gets fluid stuck in her airway. Each seizure therefore carries risk of brain damage through lack of oxygen and also death. Adelaide is now 6 turning 7. Adelaide only recently learnt to walk and still requires a stroller or wheelchair for proper outings. She is not toilet trained. Thankfully life overall for me as a sole parent is much more stable. Adelaide is now at a special school and receives wonderful dedication and support from qualified staff. I still don’t qualify for proper funding from NDIS for proper respite care. Adelaide has autism and has a lot of melt downs now. She can seem fine and happy and then suddenly explodes. She often bites herself as a self-management tool. She is a sensory seeker and makes mess as much as possible. She has low muscle tone and sometimes has cyclical vomiting and also reflux problems overnight resulting in screaming. Despite all of this, she is also an absolute ray of light. Her smile lights up a room. She is very loved and supported by her mum and her little sister (who is now 4). I continue my work to get more supports for my daughter and to educate the community, and doctors, about her condition.
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