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Please can someone explain what all of this means? Prof.Dr.Garth Nicolson
Hi,
My son is coming up to 18 months old. He has been diagnosed with global developmental delay, cerebral palsy, hypothyroidism, acid reflux, epilepsy & generalised cerebral hypomyelination.
He will smile at a familiar face and makes some noises, his head control has improved but is still very poor, he has a very floppy trunk yet very stiff arms and legs, he is able to open his hands but for a long time they were clamped shut, he loves to stand but he has to be held whilst standing.
His hypothyroidism was not picked up on his heel ***** test and he was diagnosed at around 6 months.
A recent ph test showed that although his ph wasn't especially high the frequency of acid coming back into his esophagus was abnormally high.
He has had what look like grand mal seizures from around six months aswell as episodes of back arching and gasping. He has initally responded to carbomazapine but the episodes / seizures came back after a while.
He has had many EEG's including a 24 hour EEG and they have all come back normal despite him having his seizures / episodes during the recording.
He has recently had an MRI scan and the doctor has said that he has generalised / generalized cerebral hypomyelination.
His mum and I are both worried sick about him and if / how he'll progress. His mum thinks he may have Pelizaeus-Merzbacher disease. I try to remain optomistic about his future but it's becoming increasing harder with the more milestones still not met.
I'm really confused by all of this and hope someone may be able to explain each thing to me, PLEASE
My other questions are what can be done to ensure he gets the best of what he can have from life? Are there any tests that may hold any answers? any form of medication / therapy that will help?
and of course WILL MY LITTLE BOY EVER GET BETTER?
Thank You for taking the time to read this
My son is coming up to 18 months old. He has been diagnosed with global developmental delay, cerebral palsy, hypothyroidism, acid reflux, epilepsy & generalised cerebral hypomyelination.
He will smile at a familiar face and makes some noises, his head control has improved but is still very poor, he has a very floppy trunk yet very stiff arms and legs, he is able to open his hands but for a long time they were clamped shut, he loves to stand but he has to be held whilst standing.
His hypothyroidism was not picked up on his heel ***** test and he was diagnosed at around 6 months.
A recent ph test showed that although his ph wasn't especially high the frequency of acid coming back into his esophagus was abnormally high.
He has had what look like grand mal seizures from around six months aswell as episodes of back arching and gasping. He has initally responded to carbomazapine but the episodes / seizures came back after a while.
He has had many EEG's including a 24 hour EEG and they have all come back normal despite him having his seizures / episodes during the recording.
He has recently had an MRI scan and the doctor has said that he has generalised / generalized cerebral hypomyelination.
His mum and I are both worried sick about him and if / how he'll progress. His mum thinks he may have Pelizaeus-Merzbacher disease. I try to remain optomistic about his future but it's becoming increasing harder with the more milestones still not met.
I'm really confused by all of this and hope someone may be able to explain each thing to me, PLEASE
My other questions are what can be done to ensure he gets the best of what he can have from life? Are there any tests that may hold any answers? any form of medication / therapy that will help?
and of course WILL MY LITTLE BOY EVER GET BETTER?
Thank You for taking the time to read this
You might want to consider the fact that these conditions are interrelated. If you take care of the epilespy problem it might help the other problems. Think you should talk to someone familiar with the Ketogenic diet and see if there could be a relationship. I understand there are a number of hospitals which except this now as a treatment for epilespy. Maybe you could google it on line and find one close to you so you could talk to the people more about this procedure. From what I read it is important to address the problem earily in order to prevent brain damage. With any disease the sooner you take action the better chance for positive results. What you do now will result in your sons condition later. Good Luck.
Hi
This information is great thank you,
Can anyone further expain the rest of my sons problems and what it means as a whole?
Many Thanks
This information is great thank you,
Can anyone further expain the rest of my sons problems and what it means as a whole?
Many Thanks
You can go to the website "charliefoundation.org/" which has a number of video concerning the Ketogenic Diet. It apparently has a better than 50% cure rate with epilepsy in children.
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