DiGeorge Syndrome

[kreamkrackers]

I was wondering how many of us there are on here with a child with DiGeorge syndrome.

Here's Amelia's story

My daughter Amelia (nearly 4) has DiGeorge Syndrome with interrupted aortic arch, ASD, large VSD, and subaortic stenosis that was repaired with a Danus Kaye Stansel Anastamosis and closure of VSD with insertion of an RV to PA conduit. The conduit was then replaced with a Contegra conduit and also a left pulmonoray artery plasty and stenting.

Amelia is under Alder Hey, Dr Peart consultant and Dr Pozzi surgeon.

Amelia was born perfectly healthy, we had her home and everything seemed well with her. On the third night she stopped breastfeeding, started to make gasping breathing sounds, looked a grey colour and became cold. She was taken to our local hospital, not the one she was born in. We were in A and E with them saying nothing was wrong and I was a young mum who couldn't feed my child.

When we got transfered to the children's ward a paediatrician took one look at Amelia and we were rushed out of the room. The next time we seen our beautiful daughter she was hooked up to machines in multiple organ failure fighting for life. The team from Alder Hey came and collected her. We were told soon after she arrived (although it felt like forever) about her heart condition and what they thought had caused it. I didn't care about the DiGeorge syndrome I just wanted her well again. It was confirmed and we were told more about it. The ears, the extra digits and the quiet cry were all beginning to fit in with the symptons.

It took two weeks before Amelia was well enough (although she was still on life support) for her to be able to go in for her heart op. The operation took over 11 hours and she came out feeling so cold and was just completely white. Her chest was left open from all the swelling and she was possibly going to have to go back into theartre. It was awful. They gave me a sleeping tablet and told me I needed to get some sleep and off I went not knowing what was happening yet I wanted to stay with my daughter but it just seemed like we were in the way.

Luckily Amelia didn't go back into theatre. They told us her chest would probably stay open for a few days and she had 3 chest drains in. It took 2 weeks for her chest to finally be closed as the swelling wouldn't go down. Soon after that we were moved to the children's cardiac ward and 5 weeks later after getting her off oxygen, getting her liver at reasonable levels and getting her to keep in enough milk to gain weight she was allowed home.

She was on infitrini and had an ng tube. The reflux and the worry over her weight was awful. She was a poorly baby and was either asleep or we were trying to get her to drink from a bottle (all her milk had to be thickened as we found out as a baby thin liquids would go in to her lungs) or we were cleaning her vomit.

Amelia's development was much slower than other babies, she finally started supporting her head at 5 months, sat up at 15 months, crawled at about 2 years and was 3 1/2 (only recently) when she started walking.

Amelia has poor muscle tone and weakness on the left, she often forgets she has a left arm!
She has been in and out of hospital with chest infections although we've had a good year this year so I think her immune system is finally getting stronger.
Amelia has a gastrostomy (mic-key button) because she has severe gastric reflux, she was a poor eater, she lacked chewing skills and hardly drank but this is improving and at present she is only having asprin (the only medication she's now on ) and water put in there as she is still likely to be sick from milk and she's taking in enough food to not need the extra calories. Amelia has had a really bad time with constipation, she was on tons of lactulose as a baby and glycerine supposeteries when it was really bad but things are a lot better in this area as well now.
Amelia has global learning delay, she's more like an 18month - 2year old and now attend Chesnut Lodge Special Needs School. Amelia had extra digits which weren't fully formed so they've been removed surgically.
Amelia's feet role inwards so she has special boots with insoles but as they are really bad the physiotherapist is having to try to get new insole that are going to be suitable.
She also has ashtma but this probably isn't from DiGeorge and there are probably a lot of other things that I can't think of right now as they just become part of everyday life!
Everything we've had for Amelia, getting Portage, getting her into a Child Development Centre, getting her on waiting lists to recieve help from speech and language, physio, occupational therapist, getting her to see a local paediatrician have all been from me making the phone calls and chasing things up, there hasn't been any help just given to us.
We also think Amelia is autistic.
She can't pick a toy up and play with it she has to be shown how to play with it

She has a copy cat personality everything she does is mimiked she lacks an imagination

She has an absolute obsession and it really is an obsession with Teletubbies. She has a laa laa doll that plays the same tune over and over again and has a revolving picture on it's tummy which she can play with non stop for until i finally take it off her. When she plays with this toy she has her hands in the air moving her fingers, this happens everytime

She does the hand in the air thing with moving her fingers and goes into her own world at other points about 30 times a day, we thought it could be seizures at one point and we're still waiting for results from an EEG but she snaps out of it when called for so I'm doubtful to it being seizures

She is very very VERY repetitive

She hates and goes into screaming panics from certain textures such as fluff, wet hair touching her arms and bubbles in the bath although on certain days she can be okish with them

She plays with herself and we have tried to get this addressed as to why she does this as she often does it in bed and when she's in the buggy but nobody can come up with the reason for this and we had to stop her going in a high chair

She often looks distant and although she does smile and shows some expressions she does lack a lot of expressions

Sometimes when i talk to her she hasn't got a clue what I'm on about and comes out with something completely different although she does lack language skills I still feel she hasn't got a clue what I'm telling her

If she pushes her younger sister over she doesn't understand whats she's done wrong and will often just look blankly at me when i tell her off

She hates large crowds of kids, she will scream and go into panics in situations with a lot of kids and noise. Last time we went to a place where there were a lot of kids and she did this she picked up a girls Dora bag and focused in on that and did the hands up in the air thing again and switched into her own world.

She hates things being out of order for example she usually has breakfast then gets dressed as she's messy but if i ever switch it around she would then have to skip her breakfast and another example is she will spend hours just sat with a box of toys emptying it then putting it all away again.

She can recognise her sister, her dad and me in photographs which is lovely to hear her say but everytime she sees herself in a photograph or mirror she calls herself dolly.

She is obsessed with her hands, she can go into her own world staring at them.

She is very much into tickling and swinging high, which does seem weird as she can be so sensitive to other things.

Maybe it's just me being overreactive but they we are having a hard time convincing people she needs testing as she gives eye contact and she can cover the lack of imagination by mimiking. There are a few professionals that have commented on this though so it should get tested but with her having global learning delays it makes it harder.

We are finding getting her to know she's in the wrong is very hard as she can go into her own world when we talk to her or if we use time out. Any advice on how to tell a possibly autistic child off would be much appreciated.

Oh and if you made it to the end, well done and thankyou xxxxxxxxxxxx

My heart goes out to you and your lovely little girl - my boy was born autistic and also with a congenital VSD, but he did not need surgery so I really feel for what you have gone through. On the autism, we are using a system called ABA which is basically about rewarding good and punishing bad behaviour. It's not as horrible as that sounds, but I've found that where you haven't got language, you do need to find alternative ways of controlling behaviours - before my son gets too old and too large for me to control! We used chocs as rewards (eg on toilet training) and hairwash as aversive (eg when he hit or pushed or bit). It's not like with my DD where you can say "if you do that, you will lose... or you will go to bed early". And angry faces didn't do it for my DS either, he's just as likely to laugh. Now I don't even give him hairwash, I just threaten him with it. Sometimes I get VERY funny looks - in fact only today in Boots, I stopped him in the tracks of a major tantrum with a "do you want a hairwash?". Some woman looked at me as if I was mad, but looked away pretty quickly when she saw my angry face ( I do find you have to over-exaggerrate the emotions on your face for him to get the point). The other thing about ABA is to teach them to imitate - at first, the ABA tutors taught him to imitate actions - eg clap hands, then make her hands clap, do again and again and then one day hopefully she claps her hands when you say "do this". They did that for quite a few months - "do this" (hands up) Do this (tongue poke out). One magical day they said "do this " - "oooo" and he copied the noise they made. Then they moved on so he would copy every noise and letter - ooo, ee, s, t etc. And then they moved onto words - do this, "push" when he's on swing or Do this "open" when he wants a toy box or crisp packet open. Then you drop the do this and wait for him to say "push" on the swing, for which he gets the instant reward of a big push ! It's basically very important to have a motivating item in place to reward every effort, however small, whether a choc or a toy or something. You could try some of these techniques if any of them ring a bell? My DS also used to play with himself constantly, and I'm afraid the only way I found to stop it was EVERY SINGLE TIME batting his hand away and saying an angry "no". Eventually you retrain the brain so that the irritation of the response he gets from me is bigger than the pleasure he gets from touching himself. It took me a few weeks of hell, but he hasn't done it since and I reckon if you get in early you can actually change behaviours (he was around 3 at the time). This is a massively long message, I'm sorry, but I hope just one tiny part of it is useful. You sound like a fab and caring mum under the most tough pressure!

Thanks to both of you for the advice. I'll start trying these tips and see how we go

We're going to see our General Paediatrician next fri so I'm going to ask him to look at Amelia being assesed for autism. I have been speaking to another mum of a DiGeorge child who said often they come across as having autism but it isn't. Really confused now, how can it appear to be autism but isn't? What makes them different?

more info here

Hi kreamkrackers, I know I posted on your thread last week but thought I would give our story of di-georges syndrome.

Joshua was born at 42 weeks and seemed perfectly healthy although I can remember thinking he had funny little ears.

At around three days old we noticed he had a tongue tie and an epigastric hernia, which would be corrected when he was older.

When he was six weeks he had his first chest infection, he then had three others untill he was admitted to hospital at twelve weeks old with bronchillitus (sp) where he stayed for ten days on oxygen and fed via an NG tube. During all this time he had had bad gastric reflx and struggled to feed although this was put down to his breathing difficulties. He continued to have frequent hospitalisations with chest infections over the next few months untill at seven months old he contracted pnuemonia and was this time very seriously ill. At this stage they noticed how thin he was (0.4th centile) and ordered a battery of tests including the one for cystic fybrosis. This came back clear although his immune system showed some problems.
He was put on ifitrini baby milk and given a high calorie diet. This was how life continued with frequent hospitalisations for different infections for the next couple of years.

He didn't walk untill he was twenty two months old, and around this time we noticed his speech was not developing normally. A hearing test a couple of months later showed a significant hearing loss and he was referred to ENT.

He has had three sets of grommets, his tonsills and adenoids removed, and will always need to wear hearing aids.

Despite the intervention his speech has not really improved and he was still getting too many infections to just be unlucky so we were eventually referred to a geneticist. They discovered the di-georges syndrome!

After this discovery they also diagnosed a form of cleft palate which will shortly be repaired.

We are very aware how lucky we are that Joshua does not have the cardiac problems and I remind myself of this on the bad days.

We have just recieved a full statement for him for school, and have had an ongoing battle to get him the correct amount of speech therapy delivered by someone who has experience of children with di-georges.

I also have possible autism concerns although I am frequently told that children with di-georges are this way!? He is also very repetative and will fly into a rage like no other if someone walks in front of him, (the school run to collect my older child is the worst point of my day)is obsessed with cars, and at repeating the same words over and over.

I think I find the most difficult that Joshua's future is just so cloudy, will the palate op help him? Is he going to be on the spectrum for autism? Will he be able to have any kind of independant life at all? And then I think about the time he was in hospital and I wondered if we would ever be bringing him home at all and it's not so bad!

Hi KK.
My DS has a general developmental delay, caused by a brain atrophy. Reading your post rang plenty of bells for me, and brought many memories. Before I was finally told what the problem was (at 12 months), I though DS had austim. Ofcourse I couldn't say if your DD has autism, but a lot of what you mention was present in DS and it was due just to his delay, he is not on the spectrum (I am 100% sure of that).

Some of the similarities:
DS has hypotonia, and weakness on the right side of his body. He also used to forget about his right arm, but this has improved ever so much (with hard work).

?She can't pick a toy up and play with it she has to be shown how to play with it?
DS used to have exactly the same problem. I think the reason is that DS just didn?t know how to play with toys, he didn?t have the motor skills to use them, so he just didn?t try. Initially I also thought DS had autism, he wouldn?t pick up a toy. It then progressed to pick them up, to put them in his mouth without any exploration at all. It has only been a few months now since he has started taking the initiative to explore new toys without me hammering them down on him for endless weeks.

?She has a copy cat personality everything she does is mimiked she lacks an imagination?
I think this is really positive actually, I am still working on DS?s imitation skills and he still struggles with motor imitation (echoic imitation is much better though). On the imagination front, he had ZERO, zilt, null, NADA, no pretend play at all. But I incorporated this into my daily ?play? routine with him. For example, one day I would take him to drop daddy off at the bus stop, I would then get his teddy to ride on a play bus, while I gave him his breakfast, then his doll would also be there getting some food, I we were going to visit a friend, then little playmobile friends would also meet. I thought it would never happen, but he is now starting to do pretend play, which is amazing.

?She has an absolute obsession and it really is an obsession with Teletubbies?
DS also has obsessions. He likes this ONE DVD (the singandsign one, lots of songs), which he would happily watch five times a day if I let him. I have tried to show him cartoons, children?s programs, but he just looses interested after 2 minutes. I think it is because, although his understanding has improved a lot, he receptive language is still not good enough to follow conversations,etc, to he just gets bored because he cannot understand. I think he feels safe with the other DVD because he knows what is coming.

?She is very very VERY repetitive?
DS is improving on this, but again, something we went through.

?She often looks distant and although she does smile and shows some expressions she does lack a lot of expressions?
I remember my DH saying ?it?s like he is in his own little world?. This is not the case anymore, but DS was the same.

?If she pushes her younger sister over she doesn't understand whats she's done wrong and will often just look blankly at me when i tell her off?
I remember once crying in front of the OT, and DS just laughed, he had not idea how to interpret emotions. We have had to really exaggerate our facial expressions. I have also used signs (makaton) to make it more visual, for example, when he angry I say ?DS is angry? and make the sign at the same time, I show him pictures of people crying, laughing, etc. He is okay with this now, but again, nothing to do with autism, it is simply the brain not being mature enough to process this correctly.

Sorry for such a long post, probably a few typos in there!!!

Thankyou everyone. I think it's helping to put my head in a better place now. The not knowing about everything has been playing on my mind an awful lot over the past few weeks. I built myself up to ask at Amelia's cardiac appointment about her future and they gave us nothing. Now I need to know whether she is autistic but after reading tiny socks post maybe she's not and I need to get my head around special needs as I've never actually been around people with special needs. What makes special needs different to autism? It's hard as my family don't see us that often but there's such a difference between Amelia and her younger sister Caitlin, it's been commented on a few times that she's autistic so how do I explain the difference to them when I'm not fully sure myself? It's so confusing, why aren't there classes for parents to understand all this? I feel like I don't truely know my own daughter. This is so hard, harder than I ever thought it would be when we found out she had special needs. I keep saying if she showed me some love than I'd be able to handle this more if anyone knows what I mean. I feel alone but I know there are other people going through this and things could be worse so I'm truely grateful for what I've got but I still need to be able to get my head around everything.

Thankyou once again everyone.

Oh kream! I feel I have confused you further. It is very difficult to understand, the brain is so unique. If you do believe Amelia may have autism then just please follow through your worries and try to get some expert advice.

I am so sorry you are feeling alone. I have searched on the net and I found this link, they offer support and they appear to have a yahoo forum for parents affected by the syndrome, sorry if you have already seen this and been in touch with them, but if you haven't then maybe that would be a good place to seek some advice as they are in the same boat.

Sending you a hug.

After speaking to our community paediatrician she said that they can't tell whether Amelia is autistic. It really is a time will tell thing as her development is so far behind. She put her at 12-18 months in development but I think she's 18-24 months. Amelia is only walking around the house but has just learnt her colours and her first song, teletubbies.

When I asked for more advice on telling her off I got told facial expressions and makaton so we're now trying these.

I think knowing it's a time will tell thing is hard, especially when we see her having her hands in front of her face wiggling her fingers for what feels like hours or trying to stop her from putting all the toys in a box then emptying it, followed by them going in again then out, etc.

Having a special needs child is definetly so much harder than having a normal child especially when they don't show you love, but we love her and that really is all that matters.

Just found this, is this what Amelia might have?

Pervasive Developmental Disorder - Not Otherwise Specified, or PDD-NOS, for short, is a condition on the spectrum that has those with it exhibiting some, but not all, of the symptoms associated with classic autism. That can include difficulty socializing with others, repetitive behaviors, and heightened sensitivities to certain stimuli.Those with PDD-NOS behave like those with classic autism in many ways.