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