We have been watching a lot of netball in New Zealand this year and the team we follow, the Mystics, had advanced to the Grand Final.  I was on a course but my husband Gareth wanted to take Isla to the Grand Final to experience the occasion. She likes the big occasions but can also get overwhelmed easily due to her being autistic. Sometimes she lies down to sleep instead of processing all the stimulation from her senses, lying on her assistance dog, Bo.

When booking tickets he thought that it would be a better experience if they could have some space for Bo and for her to lie down on the floor. Instead of booking on the internet he phoned to get some accessibility tickets. The booking agents were helpful and asked if they had a wheelchair but when he explained that they would have an assistance dog they said that they would have to send an e-mail request to the event organisers. He expressed to me that he had feelings of guilt because he didn’t want to take up the space for a wheelchair bound person. He also knew that being seated in a crowded section would not work and would not be safe from a fire or emergency point of view.  So, in the e-mail and in further correspondence he referred to Isla’s assistance dog as a guide dog because he felt that was more acceptable to event organisers.

Eventually he managed to get two tickets and some space for Bo and went along to the event. Isla was very excited and looked forward to seeing the arena, getting some hot chips and cheering for the Mystics. True to form after watching the first quarter, she decided to lie down on the floor and slept for the next two quarters. She woke up for the last quarter to see the Mystics win and pick up the trophy.

It was another occasion where, despite not having a physical disability, the need for more space in an event like this is very real for us to participate as a family. He admitted he found it hard to get over his inhibitions to request an accessibility ticket. This was partly because he needed to accept that considerations will always have to be made for Isla so she can enjoy events like everyone else in her unique way. But also realising that invisible disabilities are still not accepted entirely unless visible with a wheelchair.  

We had no inkling that our daughter Isla wasn’t progressing as she should until around the age of 2. She reached all her milestones until speech didn’t develop as it should. We got the diagnosis at the age of 3 and I went through various stages before I fully accepted her diagnosis. At 12 years old our life with Isla is a different from what we expected but is a happy one.

The Fix

The first few years after diagnosis was an intense time spent trying to fix her. Trying to find the right treatment, specialist or medication that would make her come right and be “normal”. It was so hard to envisage how she would progress but there was pressure to give her the best possible chance to reach her potential.

The Fight

Much to my surprise I had to advocate and push for her to get the care she deserved. I was made to feel I should be grateful that she wasn’t worse off. I could have easily given up here. She could have easily fallen through the cracks if I had listened. 

The Ride

Once Isla was in the right environment her development rallied. This was mixed with a rollercoaster of emotions as expectations were met with the reality of slow progress. Reaching developmental milestones took longer with a lot more practice and often a different approach needed. The feel-good factor when she reached these steps towards independence and growth was always amplified.

The Acceptance

I did not give up but I mellowed. I was not failing letting Isla be herself. As the years passed her limitations became clear and no matter what I did nothing was going to change that. Our focus changed from academic skills to life skills. From worrying about what her place would be in the world to enjoying our world with her in it.

Relief

My fierce love for Isla has never changed and I fully accept and enjoy her just as she is. Expectations and pressures do not exist now. I no longer feel like I’m missing out on normal life but realise I enjoy our life that Isla has created for us. This is our normal.

After having two neurotypical children who were toilet trained relatively easily it was all new to us with our daughter Isla who has a rare chromosome disorder causing autism and development delay. The first time we tried at the age of 3 neither Isla or I were ready. After many many accidents we decided to put it off until summer when less clothes were more acceptable and appropriate. It took a number of attempts and adaptions before we had complete success.

A Plan and the Right Equipment

When we tried again there were still no signs that Isla was ready.  We were under time pressure this time though with her starting preschool (kindy in New Zealand) so this time we had more of a plan. With Isla being a little bit older she was able to sit on the toilet without a potty which worked easier for us and made more sense to her.

We invested in a decent ring/support to put on the toilet seat and a stool which she would put her feet on. A lot of children with autism, including Isla, often have poor muscle tone. This made it difficult for her to sit on the seat as even though she was big enough she was unsteady. The stool and the seat with her legs at 90 degrees steadied her, letting her concentrate on the task at hand. This was all that was available at the time and she used these consistently until the age of 8. We would pack the seat when going away in our suitcase and when unable to take the stool due to luggage space we would improvise.

Toilet Timing vs Toilet Training

Now the main difference with Isla was she was toilet timed.  With my other girls they would tell me when they needed to go. Isla on the other hand wasn’t getting the same signals through so we had to tell her when to go otherwise it would result in an accident.  No1s was fairly easy but No2s took some time to master.

Timers and Timing

We used a timer to remind Isla (and me) that is was time to go to the toilet.  At first we started going every half an hour and then increased it to every hour. We tried to give her lots of fluids (mostly unsuccessfully). Even if she wasn’t successful, we praised and washed hands and then tried again in half an hour. Admittedly this is easier than it sounds. What would happen is that she would sit and not go but then wet her pants 5 minutes later. However consistency finally paid off and she eventually got the idea.

Visuals

We took photos of Isla and made her a chart of what to do and put it on the wall by the toilet. She had visuals at kindy and was on a toileting schedule for the whole time she was there. Isla had trouble pulling down her pants and pulling them back up. When she was told it was toilet time she would just pull them down then and there and often come out of the toilet with nothing on. Her motor skills have improved with age but we are still working on her modesty at the age of 12.

No1’s, No2’s and Distraction

Isla couldn’t always feel the sensation of wanting to go so we had to rely on timing and watch her for signs. Crouching down and generally looking pretty uncomfortable were often a give away as well as a tell-tale aroma. We were advised to let her sit with her IPAD and praise and reward instantly when she was successful (even before she got off the toilet (not entirely hygienic I know). We tried to use a reward chart but Isla didn’t really understand its purpose at the time. She was more about instant rewards so she would get a small chocolate as soon as she was successful after a splash of hand sanitiser. 

Isla is still unable to wipe herself properly but tries with mixed results. The teaching of this hasn’t come easy for her due to poor motor skills. We are still practicing with the use of visuals and using a hand over her hand technique so she can slowly get the hang of it. We tried flushable wipes as thought they may be a bit easier than just toilet paper but would still end up in a mess. 

Leaving the House

They say it’s not a good idea to confuse with a nappy when toilet training but I must admit on our first few outings out the house I wasn’t that confident. However before long we were going out nappy less armed with a couple of changes of clothes and some wipes. We always made sure she visited the toilet before we left, were sure to know where the toilets were and tried to keep to timings when we were out and about.

Night Time

Isla stayed in pull ups at night until about the age of 10. In the end we had to take the pull ups away and use a brolly sheet on the bed to make any progress.

School

Isla is in a Satellite Class at school with extra support so has set times to go to the toilet. This still works the best for Isla as if you ask her if she needs the toilet she will always reply “no”. Learning new skills and reaching milestones takes a lot more time with Isla but she manages to master most things in her own way in her own time.

When people ask how old Isla is we currently reply 12 but always need to give an explanation. “She’s 12 but much younger”. “She’s 12 but more like a preschooler”. ‘She’s 12 but she’s not”.

All through a child’s younger years until adulthood they are measured against milestones.

When your child’s age doesn’t match up to these developmental goals it’s hard to know where they sit.

When Isla was younger it was a little easier to make sense of. She always was 2 years behind with her behaviour.

That didn’t seem too bad until we had to send our 3 year old to school. Over the years the gap has widened considerably.

It is hard to quantify.

You could say in some ways Isla is stuck in her preschool years enjoying Thomas the Tank Engine, Paw Patrol and Disney Cars.

Her ability to write and formulate sentences is very basic. Her behaviour and reactions can be very immature like that of a much younger child.

However there are some aspects that are much older. Such as her enquiring mind, observations and a little bit of tween sass.

Her physical body doesn’t know her mind is much younger and still develops as it should. She is becoming a child in an adult’s body.

Age becomes irrelevant.

When I compare Isla to her sisters at the same age their lives seem so far apart. I cannot even comprehend or imagine what she “should” be at this age.

It really is a strange place to be. 

We navigate life with Isla with blinkers on staying in our own lane not wanting to catch glimpse of normality. It is easier like this for Isla and for us.

It is the same when people ask what year she is at school.

When people enquire and we say that Isla is going to College next year people tend to have a preconceived idea of what that means.

Isla’s reality for normal college life is so far away from the norm how do you put this into words and make sense of it.

This next stage of growing up to become a teenager doesn’t seem like a step towards opportunity and independence like it does for others.

Those college years fly by so fast and for Isla it’s the start of navigating uncharted waters transitioning into an unstructured life trying to find purpose.

Comparison is the thief of joy.

We have to create a new normal for Isla and age and the expectations it brings has no place in our lives.

Isla is doing amazingly well and this is measured by her happiness, her willingness to try new things and finding her place in this world.

This is what we focus on, trying to take one day at a time and not comparing her life with others.

Every Monday after Isla’s Art Therapy session she rushes out of class to show me what she has created.

It may be a kite with some string, a card to her teacher or a painted rock.

They are treasured pieces take place on her top shelf in her wardrobe but then are quickly forgotten about and never referred to again.

None of the work she creates is that artistic in the traditional sense but it is the process behind it that is most important.

It is all about discovery and curiosity.

It may be exploring an idea and creating it through the various art materials. Or exploring the materials. For example using paint and working it in different ways to create stories and patterns.

Isla will often collect items from home and take them for her to use at art. She may take an egg carton, discarded shoe boxes or save some  could be art material before it goes into the recycling.

She really enjoys the hands on work, creating pieces to bring home.

However, Art Therapy isn’t just about expressing herself through her art

It also provides a safe environment for Isla to practice social skills.

Having highly trained therapists to guide her and like minded class mates to share with she is in the best place to succeed.

From what the therapists tell me she is learning how to connect with her class participants and work alongside them. 

She has opportunities to practice managing her emotions whether it’s happiness or frustration.

She learns how to start conversations and show newcomers to the group the way to participate.

Isla has been attending Art Therapy for many years and it is definitely a highlight of her week.

I have never sat in on a session. I don’t know exactly what goes on in that room but I do know a lot of magic happens with her wonderful therapists and class mates.

I have tried to recreate this at home collecting various art materials but I cannot get Isla to engage.

I have come to the realisation that Art Therapy is so much more than making art and is something we can not replicate.

When asking Isla what she likes about art.

She says  “It is fun and I can see my friends. I can do anything that I like and I don’t get told off”. What more could a girl ask for!

Every year on 23 February parents of children with this rare condition set about raising awareness about this relatively unknown genetic syndrome.

I happen to be one of them.

Isla was originally diagnosed with 2q23.1 Microdeletion Syndrome.

In Isla this causes autism, epilepsy, intellectual disability and other associated issues.

We are 12 years into our journey raising a child with this condition and 10 years from the realisation that something wasn’t right with our child who reached all her initial milestones. 

From the time Isla was diagnosed her condition has been renamed MAND by Geneticists.

This stands for MBD5-Associated Neurodevelopmental Disorder.

This encompasses not only microdeletions but also deletions, duplications or disruptions within the genetic region of 2q23.1

Isla’s tiny deletion is on the long arm of the second chromosome.

The deletion itself is small enough at 180kb to not necessarily be problematic.

It is because it also deletes part of the MBD5 gene that causes the problems. MBD5 is a gene which is haplosufficient.

In simple terms this means the remaining copy of the parental gene is not adequate to produce the needed gene product to preserve normal function. 

MAND parents find each other through a private Facebook group that was set up in 2011.

Even though our children are all unique they share similar characteristics.

Every Awareness Day we find many more families who find relief in finding support and knowing there are others out there sharing the same challenges, battles and heartbreak.

We also celebrate our wins and love for our children with others who understand.

Other goals for our Awareness Day are to educate others thereby increasing understanding.

This will hopefully lead to inclusivity and hopefully in time foster necessary medical research worldwide. 

Our Awareness Day is largely run online through our public Facebook page.

We ask that people dress in blue and upload a photo to show their support.

If you would like to help us you can visit https://www.facebook.com/2q23.1

or www.MANDfamilies.org 

#bluefor2q and #mand 

When someone first meets Isla they may see a girl who holds herself awkwardly, won’t meet their eyes and is either overly friendly or just plain rude.

However if they were to stick around for a while they might see all the following amazing things about our girl who marches to the beat of her own drum.

That she is kind

She loves her friends and people close to her, her family, her dogs and her teachers.

These people are her world.

She prides herself on being kind although this might look different than grand gestures.

If you have found a friend in Isla you are a special person indeed.

That she has an inquisitive mind

Isla may have been diagnosed with moderate intellectual disability but she is a fountain of knowledge when it comes to subjects that interest her.

She knows the Solar System off by heart and loves to find out how things work.

She just has trouble applying her knowledge into real life.

That she is affectionate

Saying that people with autism aren’t affectionate is not always true.

Isla loves nothing more than a cuddle and is very tactile.

She prefers it to be on her own terms but that is just like anyone else.

That she is hilarious

Isla enjoys making people laugh even if most of the time it isn’t intentional.

You can’t help have a chuckle at the way she expresses herself. 

Idioms and irony are slightly lost on her but she can dish out her own version of sarcasm and metaphors.

Her views on the world and her determination to make sure things are done in the correct way 

That she sees the world differently

When with Isla you really do start viewing the way we live our lives in a very different way.

You start seeing the noise, the hustle and bustle and behaviour of humans in a different light.

You will start seeing signs and logos that you have never seen when Isla brings them to your attention.

Isla likes the detail and she will often see things that you would never normally notice. 

That she is brave

Going out in a world that doesn’t make sense is scary.

When you afraid of balloons popping, candy/lolly wrappers and rain and ice life can be hard.

She overcomes her fears daily and carries on the best she can. It does help put things in perspective.

Sitting through a live rugby match I thought would be out of the question for Isla. But not only did she do it…she actually enjoyed it too!

We only had to come inside 10 minutes before the end as the rain had set in.

Luckily she was still keen to watch the end of the game inside.

If it wasn’t for my husband Gareth booking tickets without my knowledge I would never had agreed.

A rugby arena with lots of people, noise and stimulation is pretty hard to navigate when you have sensory processing issues.

I must admit I have got into the habit of not challenging Isla (or myself) to experience new things and opt for easier options.

I knew this meant a lot for Gareth that we all could go to the rugby together.

So I decided we needed to give it our best shot.

I also had a back up plan that we could leave if it got too much as luckily our hotel was not far from the arena.

First thing we had to do was upgrade her ear muffs. Isla had preferred a softer variety but had come to her own conclusion that they weren’t too good at blocking out noise.

We were also fortunate that Isla had attended “holiday club” and had spent some time with her ex teacher who knows her well.

Isla must have mentioned that she wasn’t looking forward to the rugby because it was boring.

The teacher mentioned to me she had been trying to tell Isla that we do lots of things that she liked so maybe she needed to give it a try.

This was a huge help in helping Isla adapt to the idea.

Finally there was some bribery in the form of hot chips!

To be honest I probably found it more stressful than Isla.

Waiting for her to react to all the people, worrying when the rain started falling and when the cheering started.

Isla did look a bit worried at first but then visibly relaxed and by the end was cheering with everyone else.

It has become so easy to take the safe option.

This was a bit of a wake up call for me that we have to keep challenging Isla and get her to experience new things.

I am sure some outings will not be as successful but it is always better to give it a go than not try at all.