Jo's Take

I asked in a pervious post if anyone felt compelled to share their story and I was so excited to see that Jo and Harry wanted to share. Here is what Jo wrote:

Hi All! 

My name is Joanne and I have a 13 year old son with Rhombencephalosynapsis. Because my story is 13 years old I would be more than happy to share my experiences and let you all know what we all have in common. When I first started looking for answers back then, there was nothing, it wasn't even referred to as RS, we here in Australia have a very different term for that. What I did find scared the hell out of me and I just stopped researching and focused on Harry. I am off to see a Brain Lecture with a specialist in brain structure and genetic malformations, and this prompted me to to google the old 22 letter word that took me 3 years to learn to spell.

To set the current picture for you......


We live in Brisbane Australia, and Harrison attends High School in the year he is supposed to be in. His current workable diagnosis is ASD-Austism Spectrum Disorder- PDD-NOS- Pervasive Developmental Disorder Not otherwise Specified, and throw in a smattering of ADHD.


As you know if you are too rare you need to fit somewhere so here we are. What I have learned over the years is they are all just a little bit different from each other. A lot of symptoms and defects or as I call them wobbly parts are very similar.


Early dogged intervention got my boy to where he is today.


Doctors are not all equal, as Special needs mum's, dad's and carer's we are our child's specialists. We know them best.


So the short of it is, he had his first MRI at nearly 2 after I persisted, because his 

Specialists Pediatrician told me boys develop slower than girls!!! His Neurologist said, he will never walk or talk and don't expect him to win any races. We don't know how he will live, he is going to need around the clock care. For those of you out there who are new to this, we are constantly proving these "professionals" wrong. 

At 13 he has achieved teaching himself to read at the age of 4, he starting walking and speaking at 3! 

• He started school on the day he was meant to, and has achieved grades higher than the stars.
• He completed his level 5 Piano studies all with honors at the ripe old age of 10, most kids get there by 18.He writes code in his spare time and loves reading.
• He swims, and as he hypotonic has just achieved 25 m, he even surprised himself. He runs the school cross country every year, Harry style.
• He has lots of friends, mostly nerds but the girls love him. He funny and witty and looks at life from the other side around the corner and teachers love it. 

Harry is the eldest of three boys, the other two are considered "normal" sorry neurotypical. Sometimes I wonder!

Generally he is a great kid, and after 13 years and probably while he is in school he is light on maintenance. He list of struggles are long, but that is for another night. He is in my eyes always going to need help. I will just give you guys the shiny bits tonight, but in saying that the ugly bits give you the victories. 


As you all know just when we get comfortable they go and change the goal posts, sleep is very overrated.

Harry will love to answer any questions if you have some.
Always the annoying optimist.
Jo and Harry xx

Fly Abby, Fly!

When Abby was a little girl she used to talk about how when she grew up she wanted to be able to fly. I try not to be the kind of Mom that shoots down these pie in the sky ideas because who ever knows what is truly capable. So we constantly have talked about ways that Abby could fly someday. Maybe she would be a trapeze artist? Maybe she would become an engineer and invent functional wings? Maybe she will be a pilot and fly all over the world?

Then something wonderful happened. She learned to fly all on her own. I have talked in this space about Abby's love of long jump. Last year she almost qualified for the Junior Olympics at just 8 years old jumping around 7 feet. Now... well now she is jumping almost 10 feet. She stands just 4 feet tall and she can get that tiny little body to jump more than twice her own height. If that isn't flying I don't know what is. 

As I watch her zoom that tiny frame down 50 meters of runway she truly looks like she might just take off into the sky. The look on her face has gone from the smile of last year to a grit of determination and might. She rocks into her start and moves with ease into her sprint. Normally she might stumble when running or playing, but not now. She does not misstep. She runs faster and faster until the white line is under her feet and she doesn't just jump. In one motion she both springs into flight, while pulling her knees as tight to her body as she can. With arms outstretched she flies. She lands gracefully into the sand, sometimes tumbling into it. 

She is tiny and slight but still, she has found a way to fly.

Snow and RS

It's been ages since I have had an opportunity to put together a post. Abby is doing wonderfully in third grade, with a teacher who can truly handle her well. She's had some balance issues in the past few months, which we are attributing to either inner ear fluid fluctuations or a growth spurt. Really, and thankfully, there is little to report in the world of RS.

We did notice a funny RS-related accommodation she has made to handling the snow. For years she has used these ski pole like contraptions to make her way through snow. Without them she can't manage to walk almost at all. When she was smaller she was stuck in an inner tube with a rope. :D This weekend was our first big snow fall and we noticed that she was making her way through the snow without her poles.

As it turns out she has discovered that when she comes to a larger pile that she can't make it through she flops on the ground and shimmies to shallower snow. It's hysterical... and it works! She was climbing the big snow hill (from the plow) and managing to sled down ON HER OWN! It's amazing how these kids can manage to make their world work for them!

A time to twirl

For many kids with RS, spinning is a part of their life. They spin when they stand still. They spin as they walk. They spin when they sit on the floor. Like a tiny little top. Abby is one of those children. The girl needs to spin in order to regulate her body (at least that's how I understand her explanations). I don't mind her spinning but we do try to keep it to a minimum at school so she doesn't distract others.

We have tried MANY therapies and strategies to get the spinning under control but have had little success. While I wish this post was written to outline a strategy that worked, it isn't. :D Instead I am happy to say we found a place where she can spin and whirl and turn and twirl until her little heart (and brains) content.

She is the twirliest, most accomplished spinner in the entire ballet class!

Posted by Kristen Fescoe