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5 replies

Mumt01 · 09/05/2019 21:00

Hi there. I just need some advice and support with my ds. He is 5 years old. He has been diagnosed with a 2q13 chromosome deletion and he has global delay and learning difficulties. Also he has had some seizures at school where he just drops to floor and we recently had eeg which showed something called focal seizures and now he has to have an MRI. Can anyone relate to any of this? I'm just finding it hard to deal with at the moment. Does anyone have any experience with global delay? When do things get easier? Xx

OP posts:
BackforGood · 09/05/2019 21:47

Oh, bless you. There is a lot for you to get your head round there.

Global Delay is a wide, umbrella term which literally does what it says on the tin - a child with a global delay, is delayed in their development in all areas (physical - both fine and gross motor - , cognition, expressive language, receptive language), rather than a child for example with Autism who is much more likely to have what we call an 'uneven profile', with skills more strongly developed in some areas than others.

The fact it is a 'delay' rather than a 'disorder' indicates that, as far as the Paediatrician can predict, they expect them to eventually reach milestones, just later than your "average" child.

Focal seizures The MRI is to try to unpick why these seizures are occurring. Seizures are incredibly frightening for parents when they first happen, but they are much more common in young children than most people would think.

2q13 chromosome deletion is not something I am familiar with personally, though you will see here there are many, many different conditions related to chromosome deletions. You can phone the helpline at Contact for more information and support.

Of course it is a bit overwhelming to begin with Flowers

The hardest time is when things first start. It will get better once you know what you are dealing with and how you can manage it.

BackforGood · 09/05/2019 21:49

Oh, bless you. There is a lot for you to get your head round there.

Global Delay is a wide, umbrella term which literally does what it says on the tin - a child with a global delay, is delayed in their development in all areas (physical - both fine and gross motor - , cognition, expressive language, receptive language), rather than a child for example with Autism who is much more likely to have what we call an 'uneven profile', with skills more strongly developed in some areas than others.

The fact it is a 'delay' rather than a 'disorder' indicates that, as far as the Paediatrician can predict, they expect them to eventually reach milestones, just later than your "average" child.

Focal seizures The MRI is to try to unpick why these seizures are occurring. Seizures are incredibly frightening for parents when they first happen, but they are much more common in young children than most people would think.

2q13 chromosome deletion is not something I am familiar with personally, though you will see here there are many, many different conditions related to chromosome deletions. You can phone the helpline at Contact for more information and support.

Of course it is a bit overwhelming to begin with Flowers

The hardest time is when things first start. It will get better once you know what you are dealing with and how you can manage it.

BackforGood · 09/05/2019 21:50

Oh, sorry, posted twice. Not sure how I managed that Grin

Mumt01 · 09/05/2019 21:57

Hi. Thanks for the reply. I just worry about the future so much and just wonder how ds will cope. Just feel very overwhelmed at the moment. Also his behaviour can be very immature and hard work at times and he's almost six and can still act like a toddler like putting things in mouth and running off. I just feel exhausted as feels like I'm going through the toddler years forever. He can be very funny though and cheeky. Xx

OP posts:
ElyElyOy · 10/05/2019 13:44

For advice and support for the chromosome deletion I recommend Unique. They are a charity and have detailed guides and research on different conditions, as well as data on how people can develop and progress etc. They also have specific groups for specific conditions (or groups of conditions etc).

www.rarechromo.org/disorder-guides

They have a guide to 2q13 deletion which will hopefully help you.

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