She got an ASD Diagnosis | Our daughter's developmental assessment

Podcast episode: https://www.buzzsprout.com/2428362/episodes/18800837

Video episode: https://www.youtube.com/watch?v=Tty5o1RtU7Y

Or transcript below.

Hi I'm Minie and welcome to Special Needs Diaries.

I have quite a big update to give you guys... I think the title kind of spoils it a little bit, but it's okay.

Our daughter got two new diagnoses on top of her rare syndrome, of her Kabuki diagnosis, which were that right now she has a moderate developmental delay, plus, they found autism level 2.

What we're going to do today is: I will give you a very brief description of how the hospital appointment went, what happened; then I will tell you three things that I really loved; three things that I really did not like; three lessons that I've learned from this new event, from this new update, and I would love to finish with three potential tips, thoughts, that I really hope can help you if you're also facing a similar journey with your own child.

Let's get started.

One year ago, I did this course for parents of children with language delays, and the speech therapist told me to look into it because she saw a couple of signs of autism in our baby girl; so we got the referral from the paediatrician, there was a little bit of a wait list, and only now we got the appointment.

It was one of the longest appointments we've done in ages we stayed there from 9:00am till 3:00pm and it was almost a non-stop apart from a quick morning tea break and a lunch break

where they were kind of putting together the final feedback and they gave us the feedback afterwards.

First of all they ran a some exercises some tests let's say to define the baseline of her development, to see where she sits at in terms of development and milestones - I hate the word milestones, we'll we can talk about this later - and then once they found where she sits at they tested her for neurodivergence, and this is because if your child is at a level 1-year-old it doesn't make any sense to give them exercises that you would give to a 4 year old because that's not gonna work right?

So this is basically what the appointment was: they did lots of tests they had their break and then we came back and for the last hour, hour and a half we talked about the feedback.

Let me tell you first three things that I loved.

First of all I really loved that they wanted every time they made sure they highlighted her beautiful personality, they highlighted her strengths, her good traits; not only that but they also acknowledged and praised the dynamics of our family; they they took us in the equation and they complimented the strengths of our family. That was very empowering and I feel it was really comforting as a parent who has to go through that kind of assessment.

The second thing I really, really loved is how the OT that was present over there (we had quite a few people: we had the registrar who conducted the whole questionnaires with us, the doctor also came and saw her during the exercises, a couple of students from university, of course medical students have to be exposed to these kind of visits in real life, and the OT); I loved how the OT was the one who dealt with Beatrice for most of the time, and she was able to create such a beautiful and calming environment to keep Beatrice playful and settled for hours; really, this was exceptional because I've seen lots of OTs in our 3 years

of journey and lots of therapists, and not all of them are able to connect with a child that has never seen them before with such beautiful body language and pace; I really really appreciated that.

She's of course used to kids that disregulate very easily, but it was still beautiful to see that.

The third thing I really, really loved is their balance of humanity and empathy in considering our feelings, when they were telling us their feedback, but also the level of professionalism that they kept throughout the whole visit; they were very professional in how they addressed us, how they addressed BB, how they dealt with the different exercises and breaks, how they dealt with the moment she really got unsettled when she saw the stethoscope (because the doctor wanted to listen to her heart and of course there's a trauma, a medical trauma).

So they had a beautiful balance between having a good heart and also being good professionals; I really loved that. Now let's scold them. Let me tell you three things I really did not like.

The first one was: when they gave us the feedback they started summarizing what happened throughout the day and then they said "You know, we were thinking she might have been autism level 1 because of all the amazing work you guys have done; she is thriving so much because of all the work that your family has done; but going through the tests our findings are that she is actually level 2".

No.

She HAS autism level 2. She has to COPE WITH autism level 2.

I was really surprised by how the developmental unit, the people in the hospital that give you assessments of this kind, use such wrong and old school wording.

This is kind of ironic, you guys are gonna tell me off because the social media pages where I share our journey are called My Kabuki Girl; so you might say "Hey lady!You also call her a Kabuki girl".

Well, no, in every single piece of content that I produce and put out in the world I try to make sure that I show that her diagnosis does not define her; she is not her Kabuki syndrome diagnosis, she has to DEAL WITH Kabuki syndrome.

I always try to show in our content the strengths that she has, all the beautiful things that she is, and all the challenges that she has to cope with.

It's two very different things.

And I reckon it's crucial that places like the child development unit start using a wording that is mindful of how words can impact the psychology of parents, especially when the parents are surprised, especially when the parents have not dealt with a previous diagnosis.

It's really really dangerous to define the child with their autism diagnosis because it's not that child: that child is a person on their own, but they have to deal with a challenge on their path.

Another thing that I really, really did not like is that they said she might not even become verbal whatsoever in her life and so to start using AACs (other ways of communicating), using the iPad - we already have one of the softwares for non-verbal children - because they only heard her say 5 words throughout the day.

I do understand that they could not rely on the spreadsheet (on the very thorough spreadsheet) that I sent them where I list the more than 140 words that she says in Key Word sign language, English and Italian. I understand they cannot base their test and their feedback on what I say that our daily life is.

But Beatrice displayed lots of signs throughout the day and these people didn't even know the sign for eating!

(Like, I'm showing you I'm putting my hand in front of my of of my mouth, what do you think I'm saying?! That I want to buy a Ferrari?!).

It's not possible that in such place, where they most likely see every single week children who are nonverbal and use sign language, that they first of all don't know any keyword sign

and second of all they don't acknowledge it as expressive language.

Because it is.

Especially because our daughter has been diagnosed with congenital hearing loss, as a child with hearing impairments sign language is absolutely 1,000% expressive language, and for them not to recognize that, my friends, that's a big mistake. I'm sorry.

I understand you couldn't understand Italian, but she's trilingual: she's using English, Italian, and sign language (which IS an expressive language). So she is expressing herself.

Anyway.

The third thing I didn't like is that again, they said she might decline in many other areas and one of them is food aversion, because lots of children who deal with autism display a lot of aversions with food, and might end up even though when they were little they were eating many foods, they might eventually end up only eating a couple. So they told us "Hey, just so you know, she might really become a picky eater".

This is another thing that they lacked, and it's all part of the big problem that they did not know nor acknowledge her Kabuki syndrome.

You see when you're dealing with a genetic syndrome you have things that develop at their own pace and in their own way because of such a complicated layering and cause and effect elements among the whole body, organs that delay other organs.

I told them that this baby girl for her first 14 months of life was tube fed: she was not able to suck for more than a year in her life; we literally had to teach her a skill like sucking from a bottle that other children have as a natural instinct in their body; they don't have to learn it, they were born with it.

Every single thing Beatrice knows it's because we had to teach her and that is also caused by the huge amount of hospitalizations, ofprocedures she had on her body.

She has a syndrome that most likely brings them either to the gastrostomy or however

already lots of food aversions: the fact that she's eating every single thing now means that it is very unlikely for her to become such a fussy eater, because we dealt with it already.

We beat the food aversions already, the oral aversion that she was expected to have because of the tube.

We prove them wrong.

Even the fact that they mentioned "Oh, she's never gonna become verbal": guys, people that deal with Kabuki syndrome in the majority of cases do not even start talking before 4 years of age; our daughter is already saying things, expressing language in three different languages.

What more do you want from a child with such complicated genetic syndrome?

They did not acknowledge the syndrome because they don't know it, they don't know how syndromes work and they were only interested in the autism, they only forecasted things for what autism looks like; and this is really, really frustrating for a parent like me.

No, I'm sorry, but we we're talking in two different languages, we're seeing things with a different set of glasses and your glasses unfortunately are not showing you many, many things that you actually should see because that's your job.

Anyway.

Let's go to the three lessons that I've learned.

First of all my reaction: we were a little bit hurt, the first two days were a little bit hard on both me and my husband; we actually were expecting that they almost saw her in line with other three year olds, so being told that in certain things she's at the level of an 18 month old is not nice; it really hits you hard.

I was expecting an autism level 1, yes: I was expecting that they could potentially find ASD

autism because I don't want to get into the stereotypes but a mother knows.

If you see that your own baby does not want to make eye contact with you for months, you know.

At the beginning I was even making jokes (my usual me, I always make very inappropriate jokes!); I was even saying "Oh, you know what? She's been tortured with hospital things

and tubes and cannulas for so long that she's really pissed at everyone; so that's why she does not want to look at her own mama in the eyes: because she's upset with me as well".

In reality it took her more than a year, more than a year to laugh when I was tickling her or making her laugh, to laugh at me looking at me. She would just turn her head and if she was smiling she would make sure she was not smiling directly at me; she would turn her head.

How do you explain this?

At least if we have a diagnosis I know that my daughter, my newborn, was not upset with me.

It is hard every single time you receive a diagnosis, it adds questions on top of other questions; it adds impatience on top of the impatience that I already had as an ADHDer!

One of the lessons I've learned after this visit is that this is just one assessment.

They needed to go through certain questions (that were very stupid): they kept asking me

all these questions about milestones: "When did she first start pointing at items? When did she start first following where your look was? When did she start do this? When did she start do this?"

And I was like "I don't know! I don't remember, it's all very blurry...". I looked at him at a certain point and said: "Man, I stopped looking at milestones when I saw that my daughter

finally got to sitting independently when she was 8 months old".

Because milestones hurt. They were hurting me too much. Too much.

There is no point in keeping looking at "when is her first?" and seeing that the firsts never

arrive.

So I just stopped looking for firsts, and I just enjoyed the daily ride and the day to day achievements and successes.

That's really not the whole point of our journey.

So this is just an assessment, they had to do with standardized questions - very limited unfortunately - but that's what it is.

Second lesson: we proved these doctors and specialists wrong many, many times in the past

so we're gonna prove them wrong this time too.

There was a surgeon at a certain point that was like: "Oh, you have to put back the feeding tube because your daughter is losing weight".

We proved him wrong. She didn't even have to go through the gastrostomy.

They told us she would not be able to do this, she would not be able to do that, she would not be able to do that. And here she is. She's walking, and she's standing, and she's talking.

We're gonna prove these people wrong as well.

The third lesson is: "Look, take it as a favour that they did to you", getting such a dramatic diagnosis (I'm using dramatic here but it's really not), worse than what we expected; use it to your own advantage.

Finally we have an autism diagnosis, which is something that lots more people out there are familiar with; so once she starts school we can clearly say: "Hey, there's an autism level 2 diagnosis, please cater your teaching and your support to that", they are familiar with that,

they know how to deal with that; while, if I said Kabuki syndrome they would look at me with those eyes, "Um...so what do you mean?".

I'm going to use this to our advantage, to get people ready to support her at their best.

The three advices I would like to give before this episode becomes incredibly long

(but it's also unscripted so hey I'm doing my best!).

The first advice I would give to other parents, especially if the autism - or neurodivergence in general - diagnosis is the first one that you got for your child: sorry.

You're going to deal with a much more complicated journey than what you expected.

Give it time.

Unfortunately dealing with a diagnosis, in my opinion, is like dealing with grief (and I know because I've lived both). You need to give it time to unfold all the many emotions that a diagnosis gives you: anger, denial, sadness, frustration, confusion, fears.

Live them all, give it time.

If it takes you a week, it takes you a week; if it takes you six months, it takes you six months.

There is no right or wrong way to deal with a diagnosis, but just try to be there for your child.

Second advice I would like to give is: when they talk about milestones, when they tell you where your kid sits, and where your kid is not yet, just don't use it.

Milestones are for them to put on a report.

Please do not let that hurt you the way I initially allowed it to hurt me because at the end of the day it's never gonna be on their resume: "Hi, my child started pointing at items when they were 5 years old". Who cares?!

What your child is going to be capable of in their journey is in your child's hands, and yours as well, a little bit; not in the doctor's, not certainly in a report of what they did or not do when they were newborns or babies or toddlers.

The third advice I would love to give is similar to this: your victories are based on the daily life. Every single little win is a win for all; every single little challenge for your child is a challenge for all of you.

Feel it as a fluctuation, sometimes it will look like you're so, so far away from getting there

and sometimes your child will absolutely surprise you with something you would have never expected ever ever, and you're gonna be like: "Wow! My child is a superhero", because they are.

The truth is I am truly convinced that if these children were given an extra set of challenges and rocks in their backpacks, there must be a reason, and it's not yours to unfold the reason right now. You might never know that reason, but trust that there can be purpose in any single thing you do with your child, any single strategy you implement to support your child.

There can be so many joys, so many hidden treasures to discover, and you're gonna find out that yes: your journey will never look the same again; yes, your journey will not look like the one you expected.

But it will be absolutely precious, it will be amazing in every single little thing.

Live the roller coaster. Live it with joy, live it with surprise, live it with hope.

Live it together.

And let the doctors do their own thing: sometimes they do beautiful things, sometimes they could use some more training; but just take it for what it is.

These assessments will pass, but the beauty of your child's soul and purpose stays.

I'm going to finish this sending you all a very, very big hug because mate, this life is hard!!

But I reckon we're doing an amazing job.

You are doing an amazing job. Even just showing up, and if you listened or watched to this

this whole time, you are trying really to gain knowledge and gain tools; so kudos to you I really hope I gave you even just one tool that you didn't know before.

Stay safe. Ciao.