‘She met all her regular milestones, but her speech didn’t develop.’: Mom of 3 recounts daughter’s autism, rare Microdeletion Syndrome diagnosis

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Growing Our Family

“The transition from two to three children I heard could be challenging. Adding another child to our family would make traveling logistics more complicated, car seating options limited, and suitable housing configurations harder to find.

There was also the small fleeting thought that we were tempting fate. After having two healthy girls, what if this child was born not quite perfect? This quickly passed as my heart won over my head, which was telling me our family wasn’t yet complete.

Getting pregnant was still as quick as my previous conceptions, even though I was now in my late 30s. I was so excited this time around that I could enjoy this baby without having to go back to work straight away. There was a 6-year gap and our daughters were both at school, so I could be the ‘stay at home’ mother I had always wanted to be, cherishing each milestone.

Isla arrived abruptly on New Year’s Day of 2009 within 20 minutes of arriving in the birthing suite. Being New Year’s Day, the midwife had tried to put me off as long as possible, but Isla had other ideas. She was a big baby at just over 9lbs, and apart from being a little slow to rouse and having a tongue tie, all was well. Her big sisters were so excited about her arrival.

newborn baby girl resting of her other's naked chest right after birth
Courtesy of Sara Stythe

She fed perfectly and there were no concerns at all. Her well child book read, ‘A happy contented girl developing normally.’ Isla was happiest when out and about ferrying her sisters to cheerleading practice, in her self-rocking chair, and being pushed in her stroller.

Postpartum mom with newborn baby girl, two older daughters and husband
Courtesy of Sara Stythe

Diagnosis

Isla squealed a lot, but it was just her competing for airspace with her sisters, or so we thought. She was interactive, busy, and meet all her regular milestones. She sat, rolled over, and walked when she should have. But then speech didn’t develop. ‘It’s because her big sisters talk for her,’ people said over and over. I knew this wasn’t the case.

blue-eyed baby girl crawling on the carpeted floor
Courtesy of Sara Stythe

Speech therapy followed at the age of 2. Her understanding was age-appropriate, but she had less than 5 words and didn’t babble or try to attempt words. She would just stare at me blankly when I presented the ‘First Words Book’ that had been popular with her sisters.

There were some other quirky things happening around the same time. Playing with rocks outside rather than toys and taking small books to bed instead of a cuddly toy. Always busy walking on toes, relying on momentum to propel her forward.

Toddler girl playing with rocks outside wearing pampers
Courtesy of Sara Stythe

Autism wasn’t on my radar. I didn’t even know what autism was. I had a vague understanding of the savant, genius type from watching movies such as ‘Rainman.’ But apart from that, autism had never crossed my path before, so it just never occurred to me at all.

The problem with 3-year-olds is a lot can be passed on the outside as normal. Speech delay is fairly common, hyperactivity is almost a given, and impulsive behavior is nothing new. But around this time, speech therapy was not enough and I felt the need to search for more answers.

A diagnosis of mild-moderate autism with hyperactive behavior and development delays wasn’t exactly what I was expecting, however. Isla didn’t really have autism, did she? It actually took me scoring highly on an online autism quiz once back at home for it to really sink in.

baby girl smiling while being carried by her dad
Courtesy of Sara Stythe

We were just starting to come to terms with the autism diagnosis when things got a little more real. The small glimmer of hope this had all been a mistake was taken away when we received the results from a molecular karyotype report. The pediatrician had requested this blood test at the time of diagnosis.

Confirmation was there in black and white. She had a chromosomal deletion at 2q23.1, otherwise known as 2q23.1 Microdeletion Syndrome (now known as MAND (MBD5 associated neurodevelopmental disorder).

blonde toddler girl with her two hands on her ears blocking noise
Courtesy of Sara Stythe

Of course, I immediately went to Google. I found a few worst-case scenarios with terrifying descriptions such as mental retardation and intractable epilepsy. Meanwhile, the genetics department had been in touch advising of an appointment in 7 months’ time.

After Diagnosis

I then came across a recently formed Facebook group with a handful of parents whose children were all relatively newly diagnosed looking for answers. I wanted to get a glimpse into Isla’s future and see what similarities she shared with other children.

toddler girl throwing leaves up in the air while looking happy
Courtesy of Sara Stythe

I soon discovered that autism, epilepsy, and poor sleep were common amongst those with this syndrome. With this knowledge, I requested an EEG, an eye test, blood, and help with her sleep.

By the time she was 6, Isla was having quite a few small seizures and is now medicated with lamotrigine. Pain and shock are triggers for her, but her medication keeps her epilepsy mostly under control.

By the time we saw the geneticist 7 months later, I had more knowledge about this rare syndrome than them.

mom teaching her young daughter how to spell
Courtesy of Sara Stythe

The Journey

From the moment of diagnosis, I changed. My feelings were always present and I couldn’t escape them. The initial realization was a sharp kick in the guts that took my breath away, and then a constant ache I could physically feel in my heart for a long time.

There was a period when it was hard being around my friends living normal lives. Their worries seemed trivial to what I was dealing with. People empathized and I was well supported, but they couldn’t truly understand what I was going through.

I could be in a room full of people, but I would feel lonely and isolated. I constantly reminded myself it could be worse and I should be grateful it wasn’t. We also still had two beautiful daughters growing up who needed our love, support, and guidance.

two older sisters and their toddler sister ticking their tongue out
Courtesy of Sara Stythe

It felt like living in a parallel universe at times. I often had to switch from being an isolated, struggling mother trying to navigate this foreign special needs world to participate in ‘normal’ life with Isla’s sisters. I didn’t necessarily compare the two. It was just a hard transition to make at times with each version of myself being completely different.

The most stressful times have been when I have had to fight for services. I just presumed if you had a child with special needs, you would be surrounded by support, and choices would be laid out for you. It was a very different story for a child with an invisible disability. I had to be proactive and pushy. I learned what it meant to be an advocate for your child.

Mom takes a selfie with her daughter born with autism and rare microdeletion syndrome
Courtesy of Sara Stythe

Acceptance

13 years on, we have settled into our life with Isla. I don’t feel the need to push for development, search for answers, or fight for services. We are content.

three sisters smiling and wearing bathing suits
Courtesy of Sara Stythe

Isla has grown into her autism diagnosis. She changed gradually from a happy-go-lucky infant to an anxious, sensitive young adult who needs direction and support at every turn.

Isla now speaks well, can read, can play board games, and can do jigsaw puzzles. She loves anything animated, chocolate ice cream, school, collecting rocks, and her friends. We lead a simple life with Isla, her assistance dog Bo and our extended family.

young girl sitting in the grass with her dog
Heartstrings Photography
Special needs girl eats an ice cream cone in an Adidas hoodie
Courtesy of Sara Stythe

Isla has taught us all the meaning of diversity, patience, compassion, and resilience. In a perfect world, I would like those with differences such as Isla’s to be more accepted in society. I believe education is the key to making the world a better place for our children who will one day become adults.

By sharing our experiences I try to show diversity can be a good thing and not something to be afraid of.

mom and dad biking with their young daughter
Courtesy of Sara Stythe

The name SIMPLY ISLA came about from the idea that Isla is ‘simply amazing just as she is.’ No matter what new diagnosis was thrown at us, she didn’t have to conform or change. It’s a little ironic as Isla isn’t ‘simply’ anything and is very complex.

young blonde girl smiling and playing with toys at a restaurant
Courtesy of Sara Stythe

The Unplanned Journey

We were told there was nothing wrong
but somehow it felt you didn’t belong
to this world as we know it, where communication is key
you were just happy, nonverbal, busy and free 

A diagnosis of autism was reluctantly heeded
then a sample of blood was all that was needed
A tiny genetic deletion, the test results said
All those numbers and words that messed with my head
Intellectual disability, epilepsy and more
Google confirmed my worst fears and my emotions were raw 

I felt numb and bewildered for a long long time
Carrying on with life as normal, drinking plenty of wine
Nobody could tell us what it all meant
a Facebook group found, a join request sent
It slowly began to sink in and become clear to me
That a special needs momma I would now be 

This new journey was unexpected and unreal
Through this time I wasn’t sure how to feel
My feelings were pushed down under the surface
To help you my darling girl, grief served no purpose 

If I could just find the key to unlock you now
You would just be normal but I didn’t know how
Testing and therapy became our new norm
But you had other ideas and didn’t want to conform 

Over the years your struggles have become real
I have also had time to accept, grow and heal
You have come so far and can now talk well
To meet your true potential, only time will tell 

I’m sad you won’t drive a car or have children of your own
Will always need extra care, your future unknown
It makes me feel scared and my emotions nosedive
That I won’t always be here to make sure you thrive 

The world seems overwhelming, too difficult and mean
For someone like you who struggles to be seen
For who you are – unique, amazing and real
Although different, so intensely you feel 

You have definitely changed me deep inside
And bring me joy, but also heartache, I confide
But even if a magic wand could be waved
And this way of life could be magically saved 

I don’t know honestly if I would change a thing
As a different Isla it would bring 

So 13 years on and with a long way to go
We will enjoy life with all that we now know
Even on the hard days when it’s not much fun
I’m so glad you chose me to be your mom”

Parents take a selfie with their special needs daughter while she wears a crown
Courtesy of Sara Stythe

This story was submitted to Love What Matters by Sara Stythe from New Zealand. You can follow her journey on Facebook and Instagram. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

Read more stories about autism here:

‘Shut up and be quiet!’ An innocent, amazing child was crying, but he was also present and doing amazingly well.’: Mom advocates for autism awareness after shocking encounter

‘At 18 months old, his friend said, ‘BACKPACK!’ My son was 2 and not talking. I didn’t feel like I was doing a good job.’: Mom runs marathons for Autism awareness, ‘I’ve never been running this race alone’

‘Bleach can cure anything, Katie. Don’t you want to cure your son?’ What I thought was a ‘moms tea party’ turned into a dark autism bleach cult.’: Mom stresses ‘beauty of autism’ after cult discovery

‘Best birthday I’ve ever had.’: Strangers celebrate 11-year-old with autism after no one shows up to his party

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