Seven years ago, we were given the life changing news that Isla had a rare chromosome disorder.

I remember taking the phone call from the Paediatrician on a sunny Friday afternoon.

I remember writing down a bunch of numbers and letters on a piece of paper and only taking in some of what he was saying as the shock took over.

Deletion on long arm of the 2nd chromosome…. referral to genetics…. not sure what this means.

It was a surreal feeling as we had been given a diagnosis but not given any information at all about what it meant.

We had already been told Isla had autism a few months prior and I was still slowly coming to terms with that.

This was another whammy and proof that this wasn’t just all in our imagination!

This was the start of the constant sinking feeling that I carried for a long time as I adjusted to the fact I would be a mum of a special needs child, who would then grow into a special needs adult.

Of course, I immediately went to Google.

I found a few worst-case scenario case studies 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!

I then came across a newly formed Facebook Group and I joined in September 2012.

At this stage, there were a handful of parents and we 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.

Many of these parents still exist in our support group today, along with many many others from all over the world, as children with 2q23.1 MDS* or now more commonly known as MAND** are increasingly diagnosed.

Our children’s rare diagnoses suddenly seem not so rare at all!

The Facebook group eases the isolation of being a special needs family with a rare genetic anomaly.

Technology connects us across oceans, cultures and languages.

It really is a life line for many families.

No one ever tires of helping new members come to terms with their child’s diagnosis as we all get it and have been there.

We answer questions and help point them in the right direction in terms of therapy, early intervention, schooling and medication.

We have more knowledge, advice and experience than any specialist.

We celebrate our children’s successes, offer kind words in hard times and are constantly searching for ways to help our children.

As a group we have driven research, raised awareness and a few of our families have managed real life meet ups.

So far, we are the only family in New Zealand that we know of but hopefully in time we will be able meet our on-line friends and Isla will be able to meet some friends with the same genetic makeup as her.

*Microdeletion or Microduplication

** MBD5-Associated Neurodevelopmental Disorders

Dear fellow parent,

I understand.

I understand what it’s like to be in the park and others wonder why you are sticking so close to your child, perhaps guiding them or supporting them to do what other children much younger are doing easily.

I know what it’s like to see parents and children stare at your child, laugh at them or worse…walk away from them.

People would understand if your child looked different, if you were pushing them in a wheelchair or if they had a walking frame.

I see your child’s disability even when they don’t look disabled.

I understand.

I have a child just like that too.

It’s the expectations, isn’t it?

They look fine so why are they not talking like others expect, acting age appropriate or joining in with others?

The assumption that, ‘looking fine’, means they are, ‘fine’, and that we are the issue not the child.

Oh, do I understand that!

Our parenting is questioned just because our child doesn’t, ‘look disabled’, whatever, ‘looking disabled’, is even meant to mean?

People think we are over protective, over bearing and causing the problem.

Yet they don’t know what we know.

They don’t see what we see.

They can’t see autism so they don’t know it’s there.

They can’t see global delay or learning difficulties so they must not exist.

They were not there when you received the genetic diagnosis so they don’t know.

They haven’t experienced the epileptic seizures so therefore you must have made them up.

They don’t know anything about the myriad of specialists you have visited or the volume of appointments your diary is full of.

They see your child and make assumptions based on the fact they look ‘normal.’

I understand.

You dare not mention that your child receives disability money. You know from experience that you will be accused of using your child to get money.

Why? Just because your child doesn’t ‘look disabled’ so therefore according to society they can’t be disabled.

I understand.

You see I have a child like that too.

I get the sideways looks when I hold my almost ten-year-old tight as we walk.

I hear the sniggers as he flaps and makes baby noises as we walk down the supermarket aisle.

I know the judgement at the school gate when my child is the different one yet he looks just like any other child.

For some reason disability is meant to be noticeable or else it must not exist.

People have this strange notion that if something can’t be seen then it must not be believed.

I know how that makes you feel because I feel it too.

We should not need to justify our child disability just because they don’t look disabled as people expect.

It shouldn’t matter what someone looks like and people are so quick to judge.

So, know you are not alone.

Know that I understand.

I am right there with you.

You do what you need to do for your child and know I support you.

Together we can raise our beautiful disabled children who don’t look disabled and hopefully one day others will understand too.

Yours lovingly,

A mum of a stunning but disabled little boy.

Watching mighty waves crash against a beach shore has always been one of my most favorite things.

The ocean is captivating.  In all its strength and beauty, it creates a sense of tranquility.

In the past, the beach was a serene place of reflection for me.

Relaxation and peace.

On our family’s beach trip this summer, a last minute, quick get-away, I found myself instead feeling twinges of grief.

The bright sunshine wasn’t quite warming my soul as it used to.

While I loved watching my son play in the surf and making incredible memories that day, I also caught myself dreaming of the typical beach experience that my daughter and I can’t fully enjoy together.

My son is fourteen and it made my heart soar to see him play and enjoy the day with childlike excitement.

It was wonderful being there with him.  I also sadly wondered to myself,

“How many more years do we have of making memories like this?”

“How long until he’s too old to enjoy an afternoon like this with his Mom?”

As children grow, it’s hard to swallow that these moments of childhood are fleeting…. they don’t last forever.

We want to soak them in and hold them tightly in our grasp.

Then, there is a total flip-side to this that parents of children with special needs tend to encounter.

There is a completely different heavy-heartedness that creeps up now again.

Grief comes and goes in waves, just like those that crashed onto the shore that day my son and I spent on the beach.

My daughter is seven, and is not yet able to walk or talk, due to a rare genetic disorder.

On this recent beach trip, I couldn’t bring her down onto the sand, into the bright sunshine.

She had not slept at all the night before, and every sensory assaulting aspect of the beach could have triggered a seizure.

As I watched my son write in the sand, and as we picked up seashells together, I noticed the other moms.

I saw little girls running and frolicking with their siblings.

Then, there it was.

The sorrow that hits like a slap to the face, out of nowhere.

I found myself wishing from my core that my daughter could do that; that she could walk with us and jump and splash in the water with her brother.

In that moment, I longed to see her enjoy one of life’s many adventures that disability takes away from her.

Instead of her having to sit inside with her Daddy (although he’s her favorite and they enjoyed a perfectly good time together!), I wanted this day to include her.

That wave of reality nearly knocked me over….It made me stumble, but I didn’t let it drag me away.

When the waves of grief recede, you remember all that you have to be thankful for.

I am so grateful for my children.  Being their Mom is the greatest gift.

They’ve taught me what matters in life and what is truly most important.

I know that as time goes by, I’ll have more sad moments watching my son grow up, desperately holding onto his innocence and childhood.

At the same time, I also envision him going on to do incredible things in life, and that fills my heart with happiness and great pride.

Next time we visit the beach, maybe, just maybe, my daughter can come out with us and feel joy…

She’s been working extra hard on taking steps, and I hold onto hope that one day, with her hands in ours, we’ll help her walk along that shoreline.

She’ll laugh with her big brother.

She’ll feel the tickle of the water on her tiny toes.

She’ll experience giant waves of bliss; as we do, just having her in our lives.

I will be honest and say that before I had my son, I didn’t really know what teaching assistants did.

I got the obligatory thank you gifts but that was it.

They were just another adult in the classroom just tidying up after the teacher.

Wow, was I wrong.

Teacher assistants are the glue of the classroom.

My son can’t deal with music classes, they are too loud, they are too chaotic and just something he can not handle.

So while the teacher is teaching the other children, the teaching assistant spends her time not only helping the other children get their instruments and doing her other duties but she spends time with my son 1 to 1, doing breathing exercises and distraction techniques to calm him down and making him feel comfortable.

The teaching assistant knows my son, she can be the other side of the room and see him clenching his fists and knows that something has happened and that she needs to act now before my son gets into a full blown meltdown.

She knows how to direct him to his calm down area without making it feel like a punishment.

My son’s teaching assistant has also handled negative comments and actions towards my son in such a calm and professional way.

She has seen the comments some children have made to my son, and have gone above and beyond to make not only my son feel better, but also have explained and taught the other children about autism and about why my son acts in a certain way, and has taught them to celebrate his differences and shown them how he is actually an amazing child.

Yes, teaching assistants help the teacher but it goes far beyond just cleaning and taking children to the toilet.

My son would be lost without his teaching assistant.

He wouldn’t have settled into school and wouldn’t feel so comfortable in the school surroundings without his teacher assistant.

I honestly feel a lot more comfortable with my son going to school now he has such a fantastic person looking out for him and fighting his corner when I can not be there.

To me, they are a school superhero!

The first day of the school-year often brings a flood of emotions to parents.

Anxiety, sadness and a great sense of pride are all experienced at once; simultaneously overwhelming.

For parents of children with special needs, leaving your child in someone else’s care intensifies these feelings.

“Will she be well cared for?”

“Will she be loved?”

When your child’s healthcare needs are extra special, you not only need a strong, loving, capable teacher, but also a kind-hearted, diligent Teaching Assistant as an integral part of your team.

Three years ago, my daughter, Ryleigh, began her second year in an amazing classroom.

On the first day, I was greeted by her wonderful teacher and her new assistant.

As the teacher and I had to walk to the office to complete some medical forms, I nervously left my five year old behind with the new assistant.

We had only briefly met, so I panicked a little and hoped that they would hit it off.

After a seeming eternity of completing emergency seizure plan paperwork, we walked back into the classroom…

The image of that moment has stayed with me over the years.

Ryleigh was out of her wheelchair, sitting in the floor, giggling and happily playing with the new Teaching Assistant, Mrs. Amanda.

Their connection was instant, and a surge of relief washed over me.

I kissed my baby girl goodbye, wished her a great first day, and headed on my way.

This was the first moment of three wonderful years we had with this jewel of an assistant.

My daughter is non-verbal, but the communication between them came easily.

She quickly learned to efficiently attend to Ryleigh’s wants and needs.

It was obvious that there was mutual admiration there.

They would be silly together, but she also didn’t waiver when it came time for Ryleigh to do her work.

I became completely comfortable with her; she took excellent care of my child.

More than a caregiver, she became a friend.

She was supportive of causes important to our family.

She ran in several 5K events we were part of; fundraisers for genetic research.

She was eager to generously lend a hand, outside of the school walls.

When Ryleigh had major hip surgery and was out of school for months, she took time out with the teacher to visit us at home.

She helped bring joy to a child stuck in a hospital bed and made special memories with her.

She even dropped by Ryleigh’s birthday party!

During a hospital stay once, she came to visit.

She and the teacher sang songs and helped me get her to eat.

This kind act brought such cheer and a massive smile to a sick child’s face.

Teachers have so much that they are responsible for on a daily basis.

Special Education teachers are true heroes in my eyes.

They go above and beyond for the little ones left in their hands and they work hard to shape precious minds.

Their support staff must be unyielding.

We were lucky and quite blessed to have Mrs. Amanda on our team and in our daughter’s life for three wonderful years.

She made a tremendous impact on our whole family.

As she moves on to soon begin her career as a Special Education Teacher, we were sad to start the year without her, feeling her absence in Ryleigh’s daily life.

Yet, we are so excited for all the other children’s lives that she will grace!

As change can be hard, we know that transition is just a part of the journey.

Nothing remains constant; you learn to adapt and appreciate the seasons.

With many more years of school ahead of her, and many new people entering her life, I hope that my daughter will continue to have such outstanding Special Education teachers and assistants placed along her path.

These people become so much more to us than just their job titles.

I regularly try to think back before we had our 9-year-old daughter Isla, and try to recall how I viewed children and adults with disabilities.

I think I avoided them to be honest.

I think they made me feel uncomfortable as I didn’t know how to relate to them or what to say.

I never thought for a minute I would be a mother to a child with special needs.

So, you can imagine my shock when at 2 years old, Isla was diagnosed with a rare chromosome disorder (2q23.1 MDS/MAND*) causing autism and epilepsy.

When you get the diagnosis, it really is too big to get your head around.

You are going through the motions but you cannot envisage how your toddler will develop, what they will be capable of and what their future holds.

As a mother I suddenly became very aware of my mortality.

I felt a strong urge to be around as long as possible to protect my little girl who seemed so vulnerable and would need so much support.

I still feel like this 7 years on.

Even though your child is the same person they were before the diagnosis, you do start to see your child differently.

Suddenly you realise this is not something they are going to just grow out of and that permanence takes a while to get used to.

Everybody’s journey will be different but these are my recommendations after getting a diagnosis:

Get Proactive

You will find you need to research yourself what is available to you.

This applies to funding, therapies, schooling options and after school activities.

I have made contacts throughout the world and the story is the same – there are very few people who have this all laid out for them.

Get your name on wait lists for specialists, therapies and services.

Even if you decide not to go ahead, it’s still good to be in the queue!

Find a Support Network

Whether it is online or locally, there will be others going through the exact same thing as you are.

Reach out and find a group that works for you.

This may provide you with support and be a valuable source of information.

Exercise

Exercise is good for the body and the mind.

It can be a great stress reliever and releases endorphins that make you feel brighter and more energised.

Raising a special needs child is not only exhausting mentally but can be physically challenging.

If you have a child with additional physical challenges strength gained at the gym can save your back as they grow!

Take a Break

Is important to get some respite and have a break as parenting a special needs child can be all consuming.

Find that person you trust and get away with your partner or on your own to have some time out.

Although it is hard to completely switch off, you will hopefully find some balance.

Don’t be afraid of Special Needs Activities

I fought this one for a long time…

Partly because it took me a while to find activities that catered for special needs children and partly because I thought it was a good idea for Isla to learn from neurotypical peers.

I had this romantic notion of her making friends with them all while they supported and celebrated her differences.

The reality however, was Isla losing the plot as she didn’t feel competent and me seeing the huge gaps between Isla and the other kids and feeling terrible.

This applied to schooling as well.

Although you feel like you’re living in a, “special needs bubble”, this is where some kids feel they are best supported and thrive.

Take One Day at a Time

I always used to be thinking ahead but it really is impossible to know what Isla’s future will hold.

Whether she will be able to live independently or not.

Whether she will be able to have a job or not.

I still do everything possible to help her learn the skills to better herself but I have stopped thinking too far ahead.

I try and live in the moment and enjoy spending time with her as she is now, knowing I cannot rush her development.

I wonder how others now view Isla?

Does she make them feel uncomfortable and do they avoid her?

She has special needs but she is simply Isla, simply amazing just as she is. (www.simplyisla.com).

*2q23.1 Microdeletion and Microduplication Syndrome, MAND-MBD5-Associated Neurodevelopmental Disorders

For us, our official diagnosis didn’t come until our daughter was one.

But we knew our daughter would have special needs during the first few weeks of her life.

At two weeks old, our daughter was admitted to our local children’s hospital for bacterial meningitis.

Although, our amazing doctors were able to save her life, she did not emerge from her battle unharmed.

An MRI revealed that she suffered significant brain damage.

Significant. Brain. Damage.

Those are three words no parent ever wants to hear.

During and after her month-long hospital stay, we met with many doctors.

You could tell most did not think our daughter’s ultimate prognosis looked too good, although none would come right out and say it.

No one could say how delayed she would be.

No one knew if she would ever walk or talk.

No one had answers.

And even her neurologist would not give her an official diagnosis until she was older, but her doctor did warn us one was coming.

All we were told consistently was that a child’s brain is plastic at that age which meant her brain could possibly do some remapping over time.

When it finally came, Cerebral Palsy was the official diagnosis and other diagnoses soon followed.

Cortical visual impairment. Infantile spasms. Febrile seizures. Epilepsy. Global developmental delay.

At one point, we couldn’t seem to get a diagnosis and then once we did, they wouldn’t stop.

There is really only one word to describe learning to navigate a special needs diagnosis, overwhelming.

There are so many questions once you finally have an, “answer.”

Where do we start?

Who do you talk to?

What do we do now?

It this life long?

Will she improve?

The list goes on and on.

Admittedly, at first it was a lonely journey.

All of your friends had, “normal”, children.

It felt like we no longer knew how to talk them and they didn’t have a clue what to say to us.

I shut down all social media for two years because it was too hard seeing all my friends and their children lead regular lives when our lives just entailed doctors’ visits, medications, emergency rooms, EEGs, research, and therapy.

In the early months, before we even had our official diagnosis, I consulted doctor google.

My first advice to new parents navigating the special need world is not to go searching for answers on the internet.

It is information overload, some good and some bad, some accurate and some not.

What I found myself doing was reading a positive story and holding on to hope that would be our daughter or reading a worst-case scenario and praying like crazy that was not our journey.

What the last three years of being immersed in a special needs life has taught me (that the internet never did) is that each special-needs child is different.

Even if they have the same diagnosis, there are different scales and degrees of severity.

Children also react differently to treatments and therapies.

You cannot compare your child to other children.

It’s not fair to you.

And it’s not fair to your child.

Many doctors told us that our daughter will show us what she is going to do in time.

That was not the answer we wanted three years ago, but it is the most accurate answer they could give because that is exactly what our daughter has done. We can see her progress, and it seems huge to us even if others would overlook it.

I also tell new parents that it takes time.

We did not have things figured out in the first year, and even now, there are days that we are still learning.

But now, things make a lot more sense to us, and we can see that our special-needs child is what our life needed all along.

That is not something you know immediately.

As most parents do, we had things planned out for our child, even before she was ever conceived.

We envisioned this amazing life for her and the way we planned to parent.

But her diagnosis changed that life.

Early on, it is hard to see the new possibilities, mostly because you are just trying to survive.

But with a little time, we can now picture her new future, and our new future with her.

And now we are just as excited about that life as we were about the old one we used to envision.

It is just as good even if it is different.

Our sweet girl is already doing more than most thought she would.

She is starting to take steps with a gait trainer unassisted, and she has a speech device to help her communicate that she loves.

Her verbal skills are also improving and she has about five real words.

She is absolutely pure love and she loves to be around people.

Her smile alone lights up a room.

I look forward to coming home to her every night, and I miss her like crazy when we leave her for any period of time.

That’s what parenting is all about isn’t it?

As one special needs parent to another, these are a few more tidbits of advice that I learned the hard way navigating this new life style:

As soon as you find out your special needs diagnosis, seek out what resources are close to you. Does your state or community have any early intervention programs? If so, get your child involved as early as possible because these people know your local community. Their knowledge could be very valuable to you and your family.

Give yourself a little grace every day. The down side of raising a special needs child is that you never feel like you do enough. There are days I ask myself if we slacked off on therapy or are we pushing our daughter enough. And these things are important. But what is more important are the memories you make with your family in this short time window we have. It is okay not to be perfect every day. It’s even okay not to be perfect any day.

Don’t be afraid of going out in public. If you child is healthy enough, take them with you wherever you go. Sure, some people look at you, but most are just curious and don’t understand. Embrace questions as an opportunity to educate others. Be proud of your family regardless of what special needs your child may have. Other families have their own issues too. You don’t have to hide.

There will be bad days, but there will be great days too. Stop long enough in the moment to enjoy those great days and celebrate the victories. It makes the bad days much more manageable.

The last thing I tell parents is to grieve the child you lost and be thankful for the child you still have.

I know this sounds so harsh, and if you are not the parent of a special needs child, this may sound terrible to you.

It was told to us by a doctor right after we received our daughter’s MRI results.

At the time, I couldn’t understand what it meant or even how a doctor could tell us that.

Our daughter was laying right there in the hospital bed, alive.

But now I get it, and that doctor was right.

As I said before, we had made life plans with our child in mind.

And that child we had envisioned no longer existed.

As the days and weeks passed on, it honestly did feel like we lost a child, like we were robbed an opportunity to parent the way we had always wanted.

And we grieved.

But that feeling, I can promise you will pass, and a new picture will emerge.

Your special needs child will amaze you in way no, “normal”, child ever could.

Your special needs child will give your life meaning and joy that you never could have imagined.

Just give it time.

Something many parents of special needs children hear from friends and family is, “I couldn’t do what you’re doing,” or, “I don’t know how you do it!”

You probably just smile and awkwardly say something like, “I wouldn’t change it for the world!”

The thing is, I know that’s a lie.

I know you would but you rarely openly admit it because doesn’t that make you a bad person, for wishing your child was different?

NO!

Some days are good and some days are bad.

Sometimes you feel like a superhero because everyone is happy AND you have done the housework, or you have gone to work and still managed to make a home cooked meal for everyone.

But some days you can’t seem to get anything done, everyone is crying (including yourself!) and you don’t know where you went wrong, you receive a phone call because you missed an appointment and you don’t know how things will ever get better.

When you first become pregnant you never, ever expect for your child to have a disability, no one ever does and it’s very rare that you are prepared for that to happen!

So, wishing that your child was different is totally normal and it’s not a bad thing, your child having a disability is never what you expect and as a mother or father, you just want the best for your child!

When someone tells me that they could never do what I do I honestly never know how to reply because every time I think, “Yes, you could!”

Because you would have to!

You learn.

When you have a child with disabilities you learn to be the voice of that child, you learn how to organise and plan because you have to with all the appointments and medications you need to remember but most importantly you learn patience.

Patience is key and when you’re having a day that your patience is running low that’s when things seem to go wrong.

But that’s OK, no one is perfect.

Next time someone tells you that they couldn’t do what you’re doing, just know that they are just trying to say the right thing, but just be honest, tell them you cope because you have to!

And having a child with disabilities isn’t all bad, like I said above, it teaches you to be a better you.

It can also bring you so much joy.

When my son smiles at me I feel like all my problems just melt away, when he achieves something new, no matter how small then I feel like we are on top of the world!

If no one has told you already today, then you are doing a great job.

I COULD do what you’re doing, because I do and we don’t have a choice.

It’s not always easy and we all know that but it’s also not always hard either, you got this!!