Embracing and Celebrating Autism

Anyone who truly knows me, recognizes I’m not one to repress my feelings about anything. I’m especially candid about the difficulties of parenthood. 

Then, in our case, the addition of having a special needs child has caused me to become incredibly transparent. 

At times, I’ve fallen victim to pitying myself and our life. Every outing comes with meltdowns, tantrums, and/or acts of aggression. Sometimes I know exactly what set our daughter off and other times I don’t have the slightest clue. Her sensory sensitivities play a huge part in this. She may have an unusual or intense reaction to certain sounds, smells, tastes, textures, lights and/or colors. This coupled with her limited vocabulary makes it hard to determine her needs. 

Truthfully, my difficulties in parenting are minimal compared to Brynn’s adversities. Along with Autism Spectrum Disorder, she is developmentally delayed. Nothing comes easy for her. Things that appear simple for most children, are extremely trying. 

Though, her physical challenges frustrate her at times, her emotional struggles and needs appear to be far more problematic. She is stricken with separation anxiety and is highly averse to transitions. Socially, she absolutely loves people, maybe a little too much. She has zero social boundaries or cues. She has a lot of love to give, which is a wonderful quality, but she can’t grasp not hugging and kissing everyone she meets. 

The remarkable thing is, with all her challenges, she is a happy, sweet girl. Yes, she has some behavioral issues. Yes, most things are a struggle for her, but she finds happiness and joy amid her hardships. If she can do that, then who am I to ever pity myself?

As I’ve began to look at the positives of Autism, I’ve been able to embrace and celebrate our life.

With that said, let me share some of my favorite things about Brynn:

  • Her strong capability to love
  • Her concern for others
  • Her observational skills
  • Her love of music and taking comfort in us singing to her
  • Her ability to retain information
  • Her love of dresses
  • Her tenacity and resilience (ok, this might be a love/hate relationship for me)
  • Her acceptance of others
  • Her lovely smile
  • Her compassion
  • Her loyalty


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Girls with autism- the other side!

Right so one of my main reasons for starting my blog was because I was so so sick of reading memes or posts aimed at girls on the spectrum that didn’t apply to Darcie in any way shape or form! Most will tell you that girls with autism are academically gifted, make friends easily, can mask their feelings and fit in. Darcie is none of the those and that’s absolutely fine! She’s fantastic just the way she is but I hate that girls on the spectrum get pigeon holed and barely anyone talks about this other side where Darcie sits. Sooooo that’s what I’m here to do!

Darcie is non verbal, she can’t use sentences or communicate with you verbally but if that girl wants something damn she’ll grab your hand and take you to what she needs! She sometimes uses echochlia which basically means copying words or phrases from favourite t.v shows, films or songs. If she does say the odd word it’s never in context, just totally random but I love hearing that voice when she does! What she does do though is count to 10! Bloody 10! That too was copied from Peppa pig (the less said about her the better). Darcie uses picture exchange cards (pecs) at school, she’s still learning and will only use them if she really wants to! There’s no making that girl do anything she doesn’t want to! She absolutely refuses to use them at home, but again that’s fine because I know how to communicate with her. For the outside world though it’s something I’d really love her to get a hang on, makaton too!

Darcie is still in nappies. Another thing that not many people really speak about in older kids, not sure why not though! She has no self awareness what’s so ever and actually the level she functions at, at the minute is 8-20 months old (she’s 5) The resources are so expensive! Seriously people see us coming! They stick ‘sensory’ ‘autism’ ‘disability’ in front of something and sell it for twice as much, it makes me so angry! We get help now with Darcies nappies (she gets 4 a day prescribed) but before this it was costing me a ridiculous amount of money, I obviously still have to buy extra because how the hell  can I tell her she’s only allowed 4 nappies a day?!

SLEEP! I can deal with absolutely anything autism and life throws at me but my god the lack of sleep is a killer! Especially in the early days I felt like i was barely getting through the day and sinking quicker than I could swim. Not so much these days I’m used to it all now and I wear the half dead look  quite well! Darcie’s body doesn’t produce melatonin which is what tells our body to go to sleep, so she has to take prescribed melatonin. For the most part it works, but sometimes she’s still up hours later or sleeps for a few hours then is up all night long. Hit and miss!

Just to point out, I’m not saying that the girls that are academic, make friends and do well in social situations are any less than the girls like Darcie. It’s just that my girl and others like her very rarely get spoke about meaning obviously no awareness for that side of it! Hence my blog.

I absolutely love learning about autism and everything that comes along with it. Knowledge is power right?! I made it my mission when Darcie was diagnosed to make myself an expert in her, her needs, her autism. Because it is hers. Like the saying goes, if you’ve met one person with autism that’s it, you’ve met one! Each person is as wonderfully different and unique as the next, no two the same!


Pyridoxine Dependent Epilepsy

Jack is so many things. He’s capable, he cute as a button, he’s smart and he’s stubborn, he’s affectionate, he’s friendly, and he means so much to many people. But, before I even got to the chance to know and love my son, I was given a limit on his life and a limit on my time with him. With a life-limiting + incorrect diagnosis and poor prognosis, my 11-week-old was in a fight for his life. You would never believe it looking at my big healthy boy today, but he almost wasn’t here. He has a rare disease that was almost missed.

Jack saw over 20 different doctors–specialties like Neurology, Human Genetics, Infectious Disease, ect.–in one of the US’ leading Children’s hospitals. Jack’s rare disorder, known as Pyridoxine Dependent Epilepsy(PDE), was overlooked for 6 solid months while he struggled and suffered with intractable seizures and a subsequent brain injury. This slow struggle towards a correct diagnosis is not uncommon in the rare disease community, and in fact, Jack was diagnosed quickly for having a rare disease. According to Global Genes (my go-to for all things rare and genetics related), the average time it takes for a rare disease patient to get a correct diagnosis is 4.8 years. My son could not have survived this long without the correct diagnosis + treatment and that is why I tell as many people as will listen. Awareness is everything in the rare disease community, especially when there is a treatment that is absolutely life saving like Triple Therapy for PDE.

I was thrilled when I was told we would be swapping out (slowly of course) 5 different AEDs (Phenobarb, Keppra, Topamax, Fospheny, AND the regular use of diazepam) for Pyridoxine (B6) and a new diet. For my non-neuro friends, I used the “pet words” for some of the AEDs (Anti-Epilepsy Drugs) because it’s one way we exert a little control over the meds. (ha!) WHAT? Is this even real? We went from absolute devastation, being told that our infant son had mitochondrial disease and his brain would “continue to atrophy until he passed away” to he has an Inborn Error of Metabolism and needs to see Genetics and a Metabolic Nutritionist ASAP. So he is going to live? YES! I learned the hardest way possible that doctors are not always right; they do not get to write the story of your child’s life and the fight is always worth it! I know many readers already know the entire story, but the Mito diagnosis was Jack’s second misdiagnosis. When he was just 10 days old and in the PICU after being life-flighted, we were told that he had a Hypoxic Ischemic Encephalopothy (HIE). There were pieces of Jack that fit with each diagnosis at the time so the neuro team did what they could with the information available at the time. However, the information could and should be better for inborn errors in metabolism (like PDE) that can be tested and added to the newborn screening process. As the mother of a kiddo with a rare disease, I can tell you caregivers fight, scrap, and claw for every inch of information that will help our children. And the battle is always worth it.

All of this being said, I have learned SO MUCH about PDE and want to give an update on Jack Jack. This has taken me so long for a few reasons: I want to thoughtfully explain PDE in a way that does the patient’s justice AND this update involves a subject that makes me most uncomfortable–intellectual disability. We have been prepared for many things with Jack; from the beginning we were prepared for a severely brain-injured child with a completely unpredictable future, next we were prepped (by doctors) for our son to die, then we were told his true diagnosis and prepared for unpredictable delays. Whew! I’m grateful for, not disheartened by, these diagnoses now because they made me fight like hell for my son. Jack is now 2.5-years-old and will be 3 in July. He has carried and still carries many of these diagnoses: PDE, ASD, Apraxia, SPD, GDD, Hypotonia, CP, etc. Last month Jack had two major appointments that really helped me understand, come to terms if you will, with what my son’s diagnosis of PDE truly means (at least for him, each child is so different). Here’s the medical portion: Jack is sometimes (hopefully not all the time) having seizures while he sleeps. His EEG tells his neurologist that is brain is processing at a little bit of a slower pace than typical kiddos while he is awake.

These were both things I was unprepared to hear. Jack is currently on 300mg of Pyridoxine, which is a lot considering the main side effect is peripheral neuropathies. Most people need only 2mg of B6 per day just to put that in perspective. Jack is actually doing quite well currently and on an upswing with development so we aren’t interested in adding an AED at this time. My main question that I kept coming back to was, “will Jack have an intellectual disability?” I don’t know why I didn’t really prepare myself for this portion of Jack’s disorder; after all, it is written quite clearly that PDE patients are likely to have a learning disability. The idea of the gap between Jack and his peers widening absolutely crushes my heart, but I don’t have much time to mourn so on we go! Another interesting development in Jack’s diagnoses is that both the child psychologist and neuro-development team that Jack saw do NOT think Jack has ASD.

They said that Jack has some very severe delays, most severe being his gross motor skills. They said that Jack struggles to orient himself with other people because it’s all he can do to hold himself up. He does not make good eye contact because his neck and core are so weak. He wants to make eye contact, they say, but it’s just too difficult because he is so big, yet his tone is so low. Sometimes he just looks like all his parts don’t work together quite right, but it’s what make him Jack Jack! Needless to say, these appointments have clarified and sharped so many things for me.

Jack’s incredible neurologist, Dr. Koh of Children’s Healthcare of Atlanta, told me that while many of those above diagnoses apply to Jack clinically, he doesn’t need them in addition because he has the “unifying diagnosis” of Pyridoxine Dependent Epilepsy. PDE, she explained, is a “metabolic encephalopothy”. What the hell does that mean? It means that Jack’s brain works differently at the metabolic level, causing him to develop differently than neuro-typical children. When this “metabolic encephalopthy” was not being properly treated, it caused damaged to Jack’s brain.

The damage, or what they like to the “dull spot” on Jack’s MRI explains his ataxia, but PDE explains everything else. PDE is rare so there isn’t much written, not many resources to compare, and not enough kids diagnosed and treated properly to predict what Jack’s future looks like. I know all the rare patient caregivers can relate to that. Interestingly, Jack’s doctors (not just Dr. Koh) say that PDE is really the only diagnosis Jack needs because PDE implies developmental delays, epilepsy, hypotonia, etc. While I have always understood this, I have also spent so much of my time fighting with insurance for early intervention services and keeping ER doctors from killing my son because PDE isn’t an instantly recognizable diagnosis.

An insurance representative once said to me, “I don’t understand why your son needs so many therapies, it’s not like he has Down Syndrome or something”. I hung up immediately so my anger for my son and then my friends and loved ones with Down Syndrome didn’t vaporize him through the phone. Maybe, hopefully it still did. Dr. Koh basically told me that it’s my job to change this and make people recognize and remember PDE. So remember this: PDE is super similar to PKU and both can kill you if not properly treated.


She Doesn’t Look Autistic is Not a Compliment

Please take note…

‘She doesn’t look autistic’ is not a compliment.

‘But she’s so pretty’ is not a compliment either.

‘She can’t have autism, she looks normal’ is even less of a compliment and is in fact hurtful.

‘Normal’ is a figment of peoples imaginations, it does not exist. Insinuating people with autism aren’t normal is beyond hurtful. Get to know the person, look beyond their disability and see them for the wonderful individuals that they are. If you don’t, believe me you are missing out!

Autism does not have a look, it’s an invisible disability. That simply means you can’t tell that person is disabled just by looking at them. You may notice somebody has autism because they are wearing ear defenders or because they are stimming or because they are in a buggy or a wheelchair but not by how they look. They don’t have a flashing neon autism sign coming out of their heads, they look like everyone else… if anything just more beautiful.

Our daughter is perfect, quite simply stunning, with the biggest smile and huge brown eyes, that’s how she looks, that is how I’d describe her looks and features, not autistic.
Isla looks like Isla, it really is that simple.


To Label or Not To Label

I think this is a very personal opinion and your view will completely depend on the journey you have taken. However, for me, I was incredibly grateful for that label, even though, at the time, it truly broke me.

Deep down, I knew from the moment Aiden was born that there was something different about him. As he grew that difference became more apparent and it felt like I spent my life making excuses for him.

‘Sorry, He’s just tired’

‘Sorry, I don’t think he heard you’

‘Sorry, he doesn’t understand’

These excuses changed after my acceptance, to:

‘That’s just Aiden!’

‘In Aidens world it works like this…’

‘Aiden just has his own set of rules’

The hardest part was trying to justify everything he did or we did because of his behaviours. Really what I was trying to do, was gain acceptance from others. Without a diagnosis we had no answers or reasons for his or our behaviour towards him and more importantly, we had no guidance as to whether what we were doing was right.

His label of Autism felt like a massive relief! A relief that I wasn’t going mad, a relief that there was a reason to his extremely difficult behaviour, a relief that there was a reason for his differences. It was also a relief to know that I could now learn to understand him and that ultimately, I could learn how to help him.

However, with relief also came an abundance of guilt and grief. (Which has never gone!)

Guilt – what did I do to cause this? Also, guilt about how I’ve dealt with his behaviours up till that point – maybe if I had responded differently, I wouldn’t have caused him so much distress.

And grief! Well this is complex, because nobody has died. However, the feeling you get after retaliation sets in, that your child and your relationship with your child is never going to be the one you had planned and it is said to be the same feeling as grief!

These feelings then create a cycle which leads back round to guilt again! You feel guilty for feeling like that! ‘I just wanted a ‘normal’ child!’ You envy others with their ‘perfect’ children – because they have the life you had planned! That doesn’t mean you don’t love your child (on the contrary, I think I love him even more!) but you grief for that something that you never had and will never get and feel guilty for even thinking it!

But without that label I think I would have gone mad. I would not have known where to start with helping to support his needs because according to society he didn’t have needs and I would not of been able to grow in my ability to understand him.

It is easy to be caught up in the negativity that surrounds a so called ‘naughty’ child and it is easy to forget how this negativity affects not only their, but your self-esteem.

Professionals say you don’t need a label to access support! That is utter nonsense! Without that label Aiden was a ‘naughty’ school boy struggling to fit in to a mainstream school. I was a bad parent and I was ousted by other parents within my community.

With that label Aiden became a complex little boy who needed specialist provision. He was given access to therapies and social support to enable him to fulfil his life ambitions and to achieve an education and future he deserves. Other people had a name for his behaviour (I won’t say they understood) but with that label their was a degree of acceptance because there was a reason for his behaviour.