Discussion
Yesterday, my wife and I found out our little boy, Charlie, has a very rare brain disease called Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) or Van Der Knaap Syndrome. It affects around 1in 500,000 so roughly around 40-45 people have the condition in Australia where we currently live.
I'm struggling to comprehend it all and can't quite believe it. He seems 100% normal to me.
The issue with the disease is it's a degenerative one and he will go down hill as he gets older. It affects his motor skills and more than likely he'll be wheelchair bound by his teens and they can live quite a shortened life due to the condition of his disease.
Don't really know why I'm posting, I guess venting in a way.
I'm struggling to comprehend it all and can't quite believe it. He seems 100% normal to me.
The issue with the disease is it's a degenerative one and he will go down hill as he gets older. It affects his motor skills and more than likely he'll be wheelchair bound by his teens and they can live quite a shortened life due to the condition of his disease.
Don't really know why I'm posting, I guess venting in a way.
Day 1 diagnosies are always as dark as they can possibly be. I was told that my daughter wouldn't walk, talk and a whole heap of other things on day 1, she's stuck 2 fingers up at every limit thus far.
My only advice to you can be question, question, question. Just keep pushing for info, there are huge numbers of services and resources that you can latch onto, use them.
My only advice to you can be question, question, question. Just keep pushing for info, there are huge numbers of services and resources that you can latch onto, use them.
A very good friend of mine recently had a stroke and the doctors predicted she would not recover to anywhere near her former self. Yesterday she walked unaided. The human body is an amazing machine and you should hold out as much hope and give all your support (not that you'd do anything else).
Sorry to hear that OP.
To add to the "they're not always right" as posted above.... I will share some of my experiences:
I wasn't meant to make it past 7 days when I was born - well, they were 10,376 days wrong (and still going strong) at 28 years old I'm 100% fit and 'normal'.... well.... some might disagree.....
Also, me and my Mrs were told we couldn't have kids (again, by doctors)..... We're 12 weeks pregnant
Keep your chin up and have faith
To add to the "they're not always right" as posted above.... I will share some of my experiences:
I wasn't meant to make it past 7 days when I was born - well, they were 10,376 days wrong (and still going strong) at 28 years old I'm 100% fit and 'normal'.... well.... some might disagree.....
Also, me and my Mrs were told we couldn't have kids (again, by doctors)..... We're 12 weeks pregnant
Keep your chin up and have faith
As a parent of a toddler, I couldn't imagine anything worse, so sorry to hear this.
However, as others have said, the docs won't fill you with hope, just in case....I guess.
The little fellas are amazing, and I'm sure he'll surprise you, and lift your expectations...I hope so.
Good luck mate, and keep us posted......fingers crossed for you and the mrs.
Cheers.
However, as others have said, the docs won't fill you with hope, just in case....I guess.
The little fellas are amazing, and I'm sure he'll surprise you, and lift your expectations...I hope so.
Good luck mate, and keep us posted......fingers crossed for you and the mrs.
Cheers.
Terrible news, and I feel for you.
Someone gave me this when our son was diagnosed with Autism,not the same I know, it's not a bad view of the situation.
http://www.our-kids.org/Archives/Holland.html
Someone gave me this when our son was diagnosed with Autism,not the same I know, it's not a bad view of the situation.
http://www.our-kids.org/Archives/Holland.html
Terrible news, my lad is 4 and has something quite minor but it knocked us for 6 to imagine that he's not perfect, well he is to us but you know...
Looked on the bright side, knowing the term "Megalencephalic leukoencephalopathy with subcortical cysts" is going to be great for his early years spelling and word comprehension.
Looked on the bright side, knowing the term "Megalencephalic leukoencephalopathy with subcortical cysts" is going to be great for his early years spelling and word comprehension.
Good luck with that. Keep us posted (only if you want) . We are interested.
I know from experience how terrifying and confusing it is having a child with something that medical science does not have a f
king clue about. I wont force positive stories down your throat because I know that they don't help one iota at the point you are at now.
Good luck with it all
I know from experience how terrifying and confusing it is having a child with something that medical science does not have a f
king clue about. I wont force positive stories down your throat because I know that they don't help one iota at the point you are at now.Good luck with it all
I'm in the process of adopting a little girl who survived a very severe brain injury at birth, she's nearly 19 months old and has been home for almost 4 months now. Best case scenario mobility wise would be her learning to control an electric wheelchair and like your lad she's 'life limited'.
I'm not gonna chuck all the positive fluff at you because I don't imagine that it's a blind bit of use at the moment but suffice it to say, even the kids who really do turn out to be facing every struggle the doctors imagined for them ARE STILL CHILDREN - they learn, play, chuck toddler tantrums, develop utterly infuriating habits, wind their folks up, go to school and (mostly) thrive there. What I'm getting at is that most or all of the parenting experiences you'd have if your boy didn't have his condition, you'll still be having.
Contact A Family may yield people to talk to who've got first-hand experience of what you're facing, and for a specific forum Special Kids in the UK (slightly nauseating name...) are great for comparing notes, advice etc etc.
I'm not gonna chuck all the positive fluff at you because I don't imagine that it's a blind bit of use at the moment but suffice it to say, even the kids who really do turn out to be facing every struggle the doctors imagined for them ARE STILL CHILDREN - they learn, play, chuck toddler tantrums, develop utterly infuriating habits, wind their folks up, go to school and (mostly) thrive there. What I'm getting at is that most or all of the parenting experiences you'd have if your boy didn't have his condition, you'll still be having.
Contact A Family may yield people to talk to who've got first-hand experience of what you're facing, and for a specific forum Special Kids in the UK (slightly nauseating name...) are great for comparing notes, advice etc etc.
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