Aa
Aa
A
A
A
Close
Avatar universal

Please can someone explain what all of this means?

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 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

Chris

Chris
6 Responses
Sort by: Helpful Oldest Newest
Avatar universal
Hi,

Thanks for your post, I sent you a note with my email address
Helpful - 0
1200909 tn?1306815081
My 27 month old son was diagnosed with Athetoid CP and then Pelizaeus-Merzbacher was a possible diagnosis. Reading your post is almost as if I would have posted it! Our boys are a lot alike. My son arched and wouldn't sit wanted to stand or lay on his back all the time. He rolled over at 8 days old and hasn't stopped since. He doesn't have seizures. Head control is fine now but at 18 months old it was poor. He liked to keep his fists balled up. He has to have something in each hand when playing and eating. I would love to talk to you.
Helpful - 0
Avatar universal
Is there anybody out there that can expalin all of this to me?
Helpful - 0
Avatar universal
Hi

Thanks for your comments and your support
Helpful - 0
1176211 tn?1264038680
My son has many of the issues as your son.  one half hour after his pertussis vaccination, he went limp and the seizures began.  he is now 25 years old.  first they did not think he would live a year, then five years, then 10 years and such.  He has proved them all wrong.
He does have lots of physical ailments to deal with, but he is such a patient young man with a great sense of humor and a love for game shows and all sports from baseball to bowling.  I was told that when kids with seizures hit puberty, the seizures either get worse or better.  They were right, but thank God his got better.  I am no doctor, but below are some of the issues we dealt with.  If I give advice, it is what I now know but wish I had known back then.  So, my prayers are with your whole family.  and it does affect the whole family.  I have found it either brings you and your spouse together or unfortunately it can take a toll on the relationship.

Although my son had normal EEG's he had serious seizures.  The neurologist said that the brain can actually learn to have seizures and if good control has not happened by the age of two they will start having abnormal EEG's.  Unfortunately, back then they did not have half of the medications and options they do now.

Among the things that I wish someone had told me... Don't sweat the small stuff.  I think back on how many times I rushed around trying to make the house look good or to attend the many invitations from friends and family.  It is much better to pace yourself, it is ok to say no, real friends will remain and it is better to have one or two great friends than to have lots of superficial friends.  You may have to learn to say no.  Take care of your own health, you will be of no use to your son if you wear yourself out.  Accept help from others, from respite care and from friends, family, neighbors and your church.  There are lots of services, but sometimes you have to look for them.  trust your instincts, if you feel there is something wrong and feel that no one is listening, keep looking for answers.  It took five years for the doctors to listen to me and check his stomache.  He would projectile throw up and gag on foods.  It turned out that the opening of his stomache was was too big and the bottom of his stomache emptied too slow.  He had surgery and almost immediately he could eat and keep his food and medicine down.  Do not take no for an answer, you are your sons advocates, you are his voice.  be open to new ways of thinking, there is a field called sensory integration - meaning - some people learn by listenening, some by watching, some by hands on and some by reading directions.  Some people have and overactive or underactive reaction to stimuli from the five senses.  some kids crave spinning and motion, some kids are hyper sensitive to touch.  By recognizing how your son processes information and stimuli you can help him be more comfortable during PT and OT and different settings.  Do not let him go without enough PT.  Because my son had a few years of not enough therapy, his feet and hands are now knarled and atrophied.  
sometimes the medical field is so busy trying to keep on top of the various health problems that may crop up, therapy is often put on hold, but it is much better for your sons life long health and comfort.

sorry so long, feel free to contact me any time.

Carly
Helpful - 0
Avatar universal
SORRY PARAGRAPH 4 SHOULD OF READ


He has recently had an MRI scan and the doctor has said he has generalised / generalized cerebral hypomyelination.
Helpful - 0
Have an Answer?

You are reading content posted in the Neurology Community

Top Neurology Answerers
620923 tn?1452915648
Allentown, PA
5265383 tn?1669040108
ON
1756321 tn?1547095325
Queensland, Australia
1780921 tn?1499301793
Queen Creek, AZ
Learn About Top Answerers
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Find out how beta-blocker eye drops show promising results for acute migraine relief.
In this special Missouri Medicine report, doctors examine advances in diagnosis and treatment of this devastating and costly neurodegenerative disease.
Here are 12 simple – and fun! – ways to boost your brainpower.
Discover some of the causes of dizziness and how to treat it.
Discover the common causes of headaches and how to treat headache pain.
Two of the largest studies on Alzheimer’s have yielded new clues about the disease