After Isla’s diagnosis by the pediatrician I came away thinking he’d got it wrong. She was meant just to have verbal apraxia and I thought she would just come right all of a sudden, you know like those stories you sometimes hear of. When I got home I googled a few autism checklists. Mmmm I thought maybe a little autistic after all. However I think I was still in denial until the chromosome deletion result came through. This was proof that there was something definitely wrong and she wouldn’t be growing out of it anytime soon.
However now I was confused…did she have autism or a syndrome? The pediatrician said autism, the geneticist said syndrome. With there now being more research being done they have proved that her gene disruption (MBD5) caused by her deletion at 2q23.1 does in fact cause autism.
So what exactly is Autism and how does it affect Isla specifically?
Autism is a neurological development disorder that generally leads to differences in communication, social skills and creates sensory challenges and fixed interests. Isla’s mutation in the MBD5 gene I presume was affecting how her brain develops and functions before she was even born. Even though she didn’t display obvious outward symptoms of autism immediately after birth, the underlying brain differences were accumulating. Eventually though, the compensatory processes were no longer enough, and symptoms began emerging. What the gene mutation actually does to the brain is still being researched and will be a while before we get any real answers. In some cases it can be passed down from the parents who have the mutation and are unaware as somehow it didn’t affect the development of their brain or can be “de novo” or a one off. We have been tested and Isla’s mutation occurred for the first time in her. If Isla was to have children she would have a 50% chance of passing on the abnormality.
No two autistic individuals will experience the exact same symptoms even with the same genetic mutation this is why it is called Autism Spectrum Disorder. Also the cause of autism is not always caused by genetic disorders. Some are apparently caused by environmental factors or metabolic conditions but there is still a lot of research and unknowns around this.
So with this in mind my explanation of the way autism affects Isla will be totally different to the way it may affect another person.
Isla has communication differences
Isla’s delayed speech was the first indicator something wasn’t right.
She has an unusual flat tone of voice. She normally just communicates to express her needs, will ask questions or will repeat phrases she has heard somewhere. She will tell me “I love the detail” when seeing our new kitchen, will call things the same “duplicates” or will tell me “I’m sorry I’ll never do it again”(this she says on a regular basis). She often asks “why” ALOT and when you’ve given an explanation will still ask “why”. She doesn’t get sarcasm, irony or figures of speech. She has trouble communicating what she wants sometimes as speech is hard for her and often takes even me a while to understand what she is saying and we have to work through it until understand. She often has exaggerated emotional responses when she can’t get out what she wants to say.
Isla interacts differently with the world around her
Isla sometimes appears disinterested in the people around her. This makes it difficult to connect with others.
Eye contact for Isla feels very uncomfortable. She finds it hard to meet someone’s eyes and listen to their words at the same time. Looking away doesn’t mean she is not listening and I have learnt that you should never force eye contact. She needs to fidget in order to focus. She finds it easier to move when talking.
She loves structure and the use of visuals and a timetable makes her feel comfortable and helps her stay on track.
Isla does not understand how others feel, or know the best way to react to others feelings and lacks the ability to empathise. She is only concerned with her own feelings which is why she can’t understand why it can’t always be her turn!
Some autistic people do not like touch but Isla loves to hug but always on her terms and when she feels like it.
Sensory processing refers to our ability to take in information through our senses (touch, movement, smell, taste, sight, hearing, balance) organise and interpret that information and make a meaningful response. The seven senses are fundamental to a child’s ability to learn & function in any environment.
Isla has Sensory Processing Disorder (SPD) that is very common amongst children with ASD. This subject deserves its own blog as is so complexed but for the purposes of this blog I will outline the difficulties that SPD causes for Isla rather than going into the reasons behind it.
STIMMING (self stimulatory behaviour) in Isla’s case is her biting one hand or having her hand up by her mouth, tensing and making the loud “eeeee” noise that accompanies this. We know that Isla is excited !!!! However this is what draws attention to Isla out in public. It escalates when on the computer and is very loud!! We have tried everything to stop it but is so natural to her that she doesn’t even know she is doing it. Her nervous system craves stimulation and this must provide some sort of feedback. When she is deep in task Isla will burp constantly.
There are other ways Isla stims…she will look at a light and spins around in circles. She will touch everything and move around constantly (which is where the ADHD/hyperactivity comes in). She will also put things in her mouth and chew her clothes or hair. Isla’s dysfunctional sensory system also causes difficulty with fine motor tasks such as letter formation (writing), poor coordination, poor sequencing and timing (understanding the steps to perform a certain action).
Isla can’t smile on cue for a photo. This is something that comes naturally to most of us but Isla has to learn this skill and is still practicing.
Isla is clumsy and she has poor spatial awareness. She will often run through things rather than go around (a nightmare at a Fijian market with all the jewellery displayed on mats on the ground…gives “bull in a china shop” a new meaning!).
This pesty SPD also makes Isla hyposensitive which means not only does it make her seek sensory input (explained in “stimming” above) but also makes her feel pain at an abnormal level. She will either fall over and not even flinch or react so severely that it will trigger a seizure. However not only is she hyposensitive but can also be hypersensitive to external stimuli. This is where her dislike to loud noises, noisy crowds and busy environments comes in. This can have different effects on her. It can make her fearful and anxious, it can make her shut down and fall asleep or will result in a tantrum or cause her to run off and generally be hyperactive.
Having ‘special interests’, ‘specialist subjects’ or ‘must do’s’ is also a characteristic of autism.
For Isla this mainly involves toys. Her Shopkins collection (cute characters from your favourite shops!) is fairly impressive. She can tell you every ones name (she has hundreds), what season they are from and what category. She watches UTube reviews where a lady (with an annoying squeaky voice) will open blind bags (basically bags where you don’t known what is inside) and review. She also likes to collect Paw Patrol and Peppa Pig toys.
There are so many “must dos” that we have become accustomed to that we only become aware of them when someone tries to do something different and Isla will protest. This can be from the way her Weetbix is presented for breakfast in the morning to the direction in which we travel to school. We try and mix things up a lot and expose Isla to different situations so she doesn’t get too fixed on one way of doing something. When we are out we often give in to her unusual requests which can range from a toy having its own seat to always having a straw in her glass of water. A bowl of curly fries or an ice-cream scoop presented the wrong way can cause a bit of a scene and then we get the “what a spoilt brat” look from onlookers. Is easy for someone else to judge your parenting from a distance!
So as you can see our Isla is truly unique and the following quotation sums her up nicely.