© 2020 Aspirante Foundation
On the 11th December 2015 our precious Grace was born. She was healthy and perfect in our eyes, and we were all besotted with our new pink bundle of joy, especially her two proud big brothers William and Oliver.
The first few months we all watched with excitement as Grace cooed and giggled, smiled and started to roll. At around 4.5 months of age our Grace got a virus and from that time she started to go floppy. We had no idea what a journey we were about to endure.
When Grace got to 6 months of age she was unable to sit up and at 8 months she was clearly behind in her milestones, we had some real concerns and fears for what lay ahead. Within the week of seeing our paediatrician we were sent to a Neurologist, and what followed was lots of blood tests, 2 MRI’s of her brain, an EEG of her brain to check for epilepsy and a spinal tap, which still didn’t lead us to knowing what was wrong with our daughter. For us as her parents, living with such uncertainty and not knowing how to best help her was devastating. We felt so helpless. It was and still is an emotional rollercoaster for us all.
In 2018 our Neurologist at Westmead Hospital suggested we do the Genome sequencing for movement disorders. After an agonising year of waiting, when Grace was 3.5 years old, we found out she had a rare genetic movement disorder called ADCY5- Related Dyskinesia. Grace’s disorder has a prevalence of less than 1 in a million so she is a very “ rare Gem”.
Grace is faced with significant daily struggles as she can’t sit, stand or walk independently. She needs full assistance with Personal care and assistance with eating. She, and we, also face these struggles with trying to get equipment to help support daily life. Grace needs a wheelchair to help mobilise her around, and even getting this for her has been a struggle. Grace’s intelligence is not affected by her disorder and she is a very social 4 year old little girl who attends a normal preschool. She wants to be able to engage with her peers independently and a motorised wheelchair would give her this freedom. It is difficult to get wheelchair trial appointments, and the need for lengthy and costly reports to be written up for the NDIS to justify why your child, who is not mobile, needs a wheelchair, is simply frustrating and upsetting to us as her parents. You can wait up to a year to get a wheelchair which is a basic need for someone who is mobility impaired.
It is made incredibly hard for the carer to access the right equipment for their child. Eg, The NDIS Arguing that your child does not need a stander, as they have a walker, when they are two different pieces of equipment with different functional uses, is ridiculous. Access to equipment needed for day to day life, should be made easier for people with disabilities.
Grace’s disorder causes her to have episodes of abnormal movements that are triggered when she gets sick, tired, anxious, stressed, does too much exercise, or is frustrated. It also causes muscle fatigue making daily activities extremely difficult.
Grace is an amazingly determined little girl who never gives up. She attends weekly Physiotherapy, Occupational Therapy, twice weekly Speech Therapy , Feldenkrais and Conductive Education. She also attends Intensive Therapy Sessions at NAPA ( a neurological paediatric therapy centre ) when possible.
Grace is improving all the time, gaining strength, increasing her vocabulary and making significant gains in mobility. She has started on a caffeine trial, after a young boy in France was treated with caffeine which ceased his dyskinetic episodes. Caffeine has been very promising for Grace and has improved her fine motor skills and helped her have more control of her dyskinesia , improved speech and endurance.
One of the most exciting advancements we have seen in Grace since starting on the caffeine has been her speech, she is trying so many new words and sounds and has more natural speech. We are constantly looking at ways to give Grace more independence but her ADCY5 can make one day to the next, variable for Grace. On the days that her body is difficult for her, with movement episodes, so is her speech. She had been using Proloquo2Go as her Augmentative and Alternative communication (ACC) and navigates it well, however she does need to go through numerous folders to express her wants and needs to me, which sometimes means she gets frustrated. The programme also only offers limited choices. Eg. If she wanted to wear a dress for the day she is able to indicate this, but not the particular dress that she wants to wear. We have recently discovered that Grace is able to read a little.
We have been very fortunate to Trial Frasil a ACC app that for the first time allows Grace the ability to communicate on her terms, in her way. Grace is able to express her wishes and needs to us with sentences she constructs in “my voice”, for example with just one click of a button she can say “I love you mummy”. The app will also be able to let Grace, and her family, hear her actual voice when she uses it to communicate, this is absolutely phenomenal for us ! Grace will be able to have more choice in what she wants to eat, wear, and activities she wants to do. Eg In choosing what she wants to wear each day as she will be able to have photographs of her wardrobe and pick exactly what she feels like wearing. She will absolutely love the autonomy this will give her. This will be sent as a text message to us or her carers.
The “my entertainment “ section has become a real favourite of hers! Here she is able to select what, when and how she wants to watch a TV show, youtube and live streaming. She loved reading a book on the live iview ABC stream including being able to turn the pages herself!
Frasil for Grace means she can be her own person, and communicate what she wants to say and how she feels. Frasil will allow people with disabilities to have a voice and this is so empowering! We know that through giving Grace access to tools like Frasil she will continue to Amaze us .
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