Coloboma and GDD?

[Tor]

My son was diagnosed with global development delay a while ago and the retinal colobomas (which don't affect his eyesight at all thankfully) were found at 9 months but I never thought anything of it was just glad his eyesight was fine and at 9 months no one mentioned anything about it and said its mild doesn't affect his eyes no big deal.

Anyway now the community paediatrician referred him to the geneticist when she found out on the records that he has retinal colobomas together with the delay and I did what you should never but always do and googled it and it came up with all kinds of syndromes

Has anyone got any experiences?

 

[kit10grl]

Hi. Robyn has colobomas in both eyes. Her left is an optic disc one but doesn't affect the nerve. Her right eye one is very small and also at the back of her eye.

Robyn also has CHARGE syndrome. This might have come up in your google searching especially if you read anything relating to madeline Mcanns colobomas as a lot of the conspiracy theories regarding her have claimed she had CHARGE syndrome (she doesn't). If you've read about CHARGE its probably terrified you. It is a spectrum disorder and can range from very serious life threatening symptoms to very minor ailments which don't affect quality of life greatly.

So my first advice would be STOP GOOGLING lol. (seriously though the rate of getting CHARGE Syndrome is 1 in 10-12,000. DD has the only case of it on this site as far as I am aware)

Its very possible the coloboma is a stand alone symptom but because its part of a lot of symptoms they will want to make sure. Checking is a GOOD thing. The GDD could be related. I know you have said they don't think its affecting his eyes but again until our kids cant accurately tell us what they see the ophthalmologists are only working on theory and best estimates so it is possible the vision is affected.

We find (and its common amongst CHARGE) that DD likes to lie back to see better. The theory being that depending where on the optic nerve the coloboma is it can limit the vision in the same way as wearing a baseball cap. The vision stops lower down than a normal eye. So to increase her field of vision she lies back and uses the lower part of her vision field to see more of the area around her. Again DD is very young so we cant be sure what she is definitely seeing although she behaves as if she sees well.

We were given our diagnosis after a referall to the geneticist but her colobomas were found later not before she was refereed for other reasons

 

[Tor]

Thanks for replying again!

Yes the main one that kept coming up was CHARGE syndrome and it definitely did terrify me as I was linking him to everything in it but the heart problems and then it said you only need 4 to have CHARGE and that was it I was convinced but having calmed down and read your link in your signature im pretty convinced he doesn't have it and I was being neurotic, it was much clearer in your link than some other sites I found that were a bit more vague.

Your right about not really knowing about his eyesight too I never really thought about that but he does tilt his head right back to look at anything high up so you never know maybe its something simple that's causing his delay.

I just wish all the tests would hurry up and get done/come back so I know what we are dealing with (hopefully nothing more than being a bit slow with milestones).

I hope your daughter is doing well, it must have been so scary finding out she had it.

 

[kit10grl]

Thanks for replying again!

Yes the main one that kept coming up was CHARGE syndrome and it definitely did terrify me as I was linking him to everything in it but the heart problems and then it said you only need 4 to have CHARGE and that was it I was convinced but having calmed down and read your link in your signature im pretty convinced he doesn't have it and I was being neurotic, it was much clearer in your link than some other sites I found that were a bit more vague.

Your right about not really knowing about his eyesight too I never really thought about that but he does tilt his head right back to look at anything high up so you never know maybe its something simple that's causing his delay.

I just wish all the tests would hurry up and get done/come back so I know what we are dealing with (hopefully nothing more than being a bit slow with milestones).

I hope your daughter is doing well, it must have been so scary finding out she had it.

Thank you. The point in writing my blog was that all the material we read was very confusing so I hoped to be able to create somewhere with good information so I am happy you feel I am achieving that.

Do you mind me asking what other symptoms are making them suspect CHARGE? Are there any things you feel yourself are different but the doctors aren't noticing? One problem we have found is that because it's so rare the doctors don't know all that much about it. Often our doctors have never even heard of it. They make many assumptions based on the diagnosis letters. (Particularly the ******ation part but the description was written in the 70's when this was ok. The community are currently trying to have it changed to restriction to help with the assumptions many doctors make)

And even amongst the CHARGE groups there are no two children the same. We know of one guy who graduated from Stanford, whose doctors told his parents he would never walk, talk or do anything constructive with his life. Doctors CAN be very wrong with this syndrome because its so individual.

There is a genetic mutation associated with the syndrome but only around 50% of those clinically diagnosed have the mutation so in many cases the blood work is just a formality. not sure where you are based or how old your LO is but I could give you the link to the best CHARGE facebook group for you if you wanted. They are a very friendly bunch and very supportive even if your not officially diagnosed. Many parents there have identified CHARGE as most like their child but the doctors wont confirm a diagnosis for some reason. We are all still very supportive

 

[Tor]

No sorry if I wasn't clear the doctors haven't mentioned charge they haven't mentioned much just told me that they want to check now that he doesn't have some kind of syndrome she said "im not saying he has, but we don't want to miss anything" so its just left me completely confused! The first doctor was awful he was a locum apparently and told me then when my son was 22-23 months old that he could have autism, ADHD, brain damage or a rare chromosome disorder and he will never change "children like him don't change we just have to make the best and deal with how they are". He hadn't even spoken to him, played with him or even seen him outside of his pushchair, I complained about him and now its a different doctor who hasn't really said much tbh but she seems better.

The C- well he has the colobomas, H- no heart problems sio this doesn't apply, A- cant remember now what that was sorry, R- he has gdd but also he stopped growing at 34 weeks from IUGR so I don't know if that counts, he is still small for age but now in the normal range about 9th centile. G- he had an iguinal hernia repair and one testicle had to be sewn down as it wouldn't stay down, so I was thinking would this class as the genital bit but now I don't think so. E- is this epicanthal folds? if so he has those but I think I do and his brother does and his brother seems great. Apologies if I got all that completely wrong like I say I was confused but now I think I did actually get it wrong and he doesn't have it from your links but that was how I was thinking when I started the thread.

Another thing that is unusual physically (probably the only physical difference I can see) is his chest when he was in NICU it was a recessive sternum I think?! where it goes in and out when they breathe the actual ribcage now he is older it doesn't do this but it is permanently sort of sticking out at the top you can see it all protruding top middle centre of his chest if that makes sense, none of the doctors have ever said its a problem but ive never seen any other child or adult like it so I don't know.

ETA- my son is 28 months old.

 

[kit10grl]

ah ok I see. Yeh they never told us what they were testing for until they had a diagnosis either. The letters I have are the basics there are a lot more other symptoms I just didn't want to go into too much detail.

https://www.facebook.com/groups/124073637717566/

this is the link for the CHARGe group but its closed so not sure if that will work. To search for it type in Parents of Infant and Toddler CHARGErs. They are a really friendly group and will be able to help wth whether or not the chest issue is common. Robyn has something similar but hers is just ho the bones have healed after her heart surgery so not directly related to her syndrome.

If you have any other questions about charge please ask and I will help as much as I can