Developmental disorders/learning disabilities/genetic syndromes & more support group

[essie0828]

Sequeena Ive only seen the little guy in pictures but his skin looks very delicate. Does he bruise easy or have loose/ stretchy skin?

 

[essie0828]

I really hope I'm not terrifying you with this Ehlers-Danlos stuff. But I would ask a doctor about it if he has any other symptoms besides the hyper mobility. I'm so sorry if I am

 

[sequeena]

Yes essie his skin is like that x

 

[essie0828]

I feel like a mean witch for worrying you, but he has a few symptoms of Ehlers-Danlos. Don't panic. It's a connective tissue disorder that involves how your body produces connective tissue. Most involvement is in the joints. It can be very mild. And please understand I'm no doc, but I would have given anything before DD was diagnosed to know Why she is the way she is. And I got kinda good at matching up symptoms to hundreds of diseases and disorders and syndromes........yada yada. I would mention it by name and tell his pediatrician he has been diagnosed with hyper mobility syndrome and has delicate skin.

 

[essie0828]

https://www.nhs.uk/conditions/ehlers-danlos-syndrome/Pages/Introduction.aspx

 

[bumpin2012]

aww, poor little man. thanks for the update sequeena, I've been thinking of you guys all day. hope you and hubby got some rest too

 

[essie0828]

Ok, for T to have EDS either you or Sean would have to have it. It's directly passed from one parent to the child. If you are suspicious that he has it, you can save him the testing (skin biopsy) by talking to your personal doc and asking for testing for yourself. If you or Sean don't have it, T can't have it.

 

[sequeena]

Thanks girls I'm finding it difficult to take in.

Essie only I have problems with my joints, honestly not sure I have ED syndrome though.

 

[essie0828]

Hun Ive been known to be a bit overzealous. And am more than likely barking up the wrong tree. I honestly have good intentions, just to pass on info I stumble on. Take it with a grain of salt hun and sort it out when you can do it best

 

[essie0828]

And I to think if you had it you would know by now. I don't see how it could go undiagnosed in an adult

 

[sequeena]

Oh no not you hun just everything that's happened today x I think he just has hms nothing more

 

[essie0828]

I'm sure you are right. You know him best. I get all worked up looking into this genetic stuff. So sorry, really. Hope you guys get a good rest, and you have our prayers.

 

[Peanut78]

Hi Sequeena, I'm so happy to hear T's surgery went well, but sorry about the hypermobility. I think Sun's LO on this thread also has hypermobility - maybe she can offer some advice and assurances.

This may explain some of his delays tho - for example delays in his gross motor development i.e. walking etc. I know that hypotonia can also impact speech delays as well - this may well be the case for hypermobility also. So in some ways although disheartening it may be bringing you one step closer to understanding some of the challenges T faces and why he may be delayed in certain areas.

Sending you major

 

[RachA]

Sequeena-how is T today?

 

[sequeena]

Thomas is doing really well thanks he's back to his normal self x

How is everyone?

 

[annanouska]

Hi ladies

Sequeena I saw your pic when you boosted on something in toddlers and saw T had his op. Just wanted to pop in to see how he's doing, hopes got some rest while he was sleeping well too

Not sure if you remember my LO has hms too. His is mainly his ankles but shows some degree in knees and elbows. I can't remember if you have said before but can you go swimming? It helps quite a lot and I have noticed a big difference but seeing him walk with a pushalong today they looked quite bad again, he goes back in a few weeks.

I have a friend who has hms and she said it could get a bit achey growing up but mostly hasn't caused too many huge issues. Walking and other exercises are the main ways to mprove it but consequently it is much harder to walk/exercise/move more.

Nothing new here, his feet are still an issue, still cruising, he is struggling with not being sle to communicate I think at the minute but we will go there x

 

[sun]

I have problems with my knee the joint isn't connected properly and dislocates. All of Ts joints are affected I thought he was clumsy and lazy for not walking very far.

B also has hypermobility (paired with hypotonia) and he was very very clumsy for a long time. He needed my hand to walk on uneven ground (grass, sand, etc) until around 2yo or so. He is doing great now, but still not as coordinated or strong as other kiddos his age. He also has very shaky balance and due to his low muscle tone when he falls, he often falls hard and hits his head. I also have hypermobile joints (shoulders, ankles, hips) so I'm not sure if it's something genetic that he just happens to have in addition to other things, or if it is part of his GDD.

 

[sequeena]

From what I've read hypermobility is genetic but it is definitely s factor of GDD as obviously they find it harder to do things. Our poor kiddos it is amazing how similar their problems are

Thanks annanoushka I can't go swimming but my oh will be able to.

 

[wantabean2]

hi ladies

I was wondering if I could join?

Right where do I start? This is gonna be a long one

My pregnancy with Cameron was rocky at best, I had a lot of ups and downs and he wasn't the best mover. The morning of the 18th Nov 2010 at 38weeks I hadn't felt him move so decided to go get checked out (this happened regularly) After an hour monitoring they weren't happy so decided to burst my waters. This is where everything went downhill. 20 mins after getting my waters burst I was rushed into theatre without a clue what was going on. I got knocked out and Cameron was born. He was rushed into the neonatal intensive care and when I woke I got told that they didn't think he would make it through the night and if by some miracle he did he would be severely mentally and physically disabled. Everything went wrong. He was born with virtually no blood so had to have 5 transfusions, his organs were failing, he had bleeding on the brain, his bloodwork was completely off, he needed ventilated and he was having a lot of seizure. We got him christened the next day and believe it or not he came home 10 days later. His medical team and I couldn't believe it. He truly was a miracle.

so that was his birth but since we have had nothing but problem after problem after problem.

He has missed every milestone except walking ( he had hypertonic muscle tone so I think that's why he walked because he had to be upright ALL the time)

He is definitely not physically disabled so that's one thing off the list

He is still under the neonatal paediatric consultant care team and they have queried loads of stuff. first it was autism as he wouldn't look at you while feeding but he was only about 8 months old so I thought that was way to young to diagnose anything. then it was cp due to his hypertonic muscle tone but that corrected itself luckily. He also took seizures, ranging from absence seizures to tonic clonic seizures, until he was 16months but have stopped now.

As I said he has been delayed with everything but until recently I never knew that it was an official diagnosis. I actually only found out as he started nursery early because the health visitor thought it would help and I seen her letter she wrote and it said he had development delays along with other problems.

He was always an exceptionally quiet baby. He didn't babble at all but started saying mum about 14months. that was it until just before he turned 2. he seen a speech therapist twice. the first time he was only saying about 7 words and then two months later was saying about 20 words he uses makaton a lot and that has dramatically improved his speech so he got discharged but I was told to contact them if I had any further worries.

I have noticed a lot of changes recently.

I feel completely lost so I will list them

* He has started to have extremely violent episodes towards his younger brother (punching him full force in the face, really battering him around the head with a kids metal garden trowel just because Adam (little bro) wanted to play)
* He refuses point blank to interact with any children in his nursery class to the point of when they are doing group things he will sit himself and refuse or will sit in the group but sits with his back to everyone ignoring them.
* Getting him into nursery is starting to take its toll, he throws himself to the ground and starts screaming extremely loudly the minute we walk in the door every day
* He doesn't have the best eye contact
* He hates people he doesn't know talking to him
* He doesn't seem to be anywhere near reaching the milestones for a three year old eg he cant dress or undress etc
* He hasn't grown in over a year and a half :/ He is proper tiny. He wears 12-18month clothes (and they are really quite big on him) even though he is nearly 3.
* His speech seems to have completely stalled
* He hates loud noises like the hand dryer or more than a few people singing eg Happy Birthday (he drops to the floor and screams hysterically)
* He doesn't respond whatsoever to discipline, naughty step etc or if you take something away for him being naughty or even bribery. He genuinely is completely unfazed.

I don't know there is a lot more but Im really starting to get down about it. He has a meeting with his consultant on the 14th Nov (4 days before he is 3 ) so Im gonna bring this all upto him but I just feel like I need to know whats going on yesterday.

I have contacted an early intervention programme but it is really quite pricey and to be honest we are comfortable but far from flush. I am willing to pay so that he can have the extra help but if I could get help with that then all the better. I really don't know where to turn. I am gonna try set up a meeting with the nursery as my questions are being answered with very very vague answers and its frustrating and I am considering speaking with his Gp and /or HV next week to see what they can recommend.

Sorry for the essay but its been building up for a while and I feel that you girls prob understand the frustration and helplessness Im feeling.

If you read all that well done

and again lol

One last this thing lol I am frustrated but I would take every disability other than lose him, I just need to know how best to help him iykwim

xxx

 

[sequeena]

Hi wantabean you have certainly been through a lot could your lo be autistic? It's hard to think about but it certainly sounds like he has some markers xx

Have you had a ruth griffith test done to see where he is developmentally. If not request it then portage can grt involved xx