Can anybody help my dd possible Angelman Syndrome or Dyspraxia

[suzieEm]

Hi this is my first posting on mums net i have been reading other comments for about 6 months as i knew something wasn?t right with dd development, my beautiful dd (who was 2 on sunday) had some blood tests 2 week ago for suspected Angelman Syndrome . The results will be approx 4 week. I cant get my head round the Dr saying that angelman is what she suspects I started to look it up on the internet and her symptoms also co inside with Dyspraxia which after reading seems to fit I think. if i put down what my dd can and cant do could anybody who may have been in the same worrying state please tell me about their dd/ds please!!
dd isn?t walking she bum shuffles,
she has never pointed, waved or even done so big (even after many hours of us doing it) she doesn?t mimic us and has never joined in sing songs she just watches. she flaps and claps her hands a lot when excited and is a very happy baby. she babbles a lot and loves saying bbbbbbbbb in different tones, she loves books and the TV especially in the night garden she sits quietly watching while tickling her arm (so cute) she can scribble on paper but get fed up and then screws the paper up. She loves touchy feely things. And screams with happiness when daddy comes home. She Shuffles to her high chair when hungry and takes nana to see her pet bird when asked to.
she sleeps 13hours a night and eats well (finger foods) she can undress with help not buttons and she hates shape sorters she likes banging toys together although she does stop when told to. I feel she is aware of what?s going on but because dd has no form of communication i cant be sure.
Thanks to anyone who can help from a worried mummy.

[Saker]

Just wanted to post and say I feel for you - it's awful waiting for results. Your dd sounds absolutely adorable.

My Ds2 has dyspraxic symptons among other things (no diagnosis). Some of what you say overlaps with him, but it is really difficult to say especially in a child as young as 2. Professionals are always very reluctant to diagnose dyspraxia in children that young, and I think if you can you are better to wait for the results of the test and go from there. At least that will give you a definitive answer on the Angelman Syndrome (which I know nothing about). I know that is easy to say and when my Ds2 was in the early stages of investigation etc I spent half my life on the internet looking up every possible sympton, it was a wonder I didn't lose my job. Sorry I'm not much help but didn't want your post to go unanswered.

[TotalChaos]

Hello and welcome to the special needs board. Sorry you are going through the stress of hospitals/test results etc. I really don't know much about dyspraxia or angelman syndrome so can't really help with any info (my DS problems are speech/social related)

[alyblackcat]

I have 2 good friends with DCs with A/S, one in RL and one on another forum.

My RL friends DC has towards the severe end, he is an absolute joy - he will probably always be in a wheelchair. My other friend basically self DX'd as she saw a prog on TV about A/S and then discussed it with Paed - I think she was aroung 1 at the time. Her LO was using standing frames and weight bearing, although I (sadly) haven't spoken to her in a while so think she may be walking by now.

My DS has also been tested for it (as has at least one other on here), as he has GDD and multiple other issues, but mostly as he has very blonde hair and blue eyes (can be seen looking cute on my profile) because it is a genetic condition which has only (or mainly) very blonde haired children. He also has a very happy demenor, flappy arms, low muscle tone, didn't walk until he was 23 mths, doesn't really talk, has gappy teeth etc so fits the profile (apart from his huge head and not having epilepsy which is often how it is discovered)

Good luck with your waiting game, I hope it brings you some answers.

[suzieEm]

Thank you for responding.
she is adorable, beautiful and my world.

[sparklygothkat]

My DS1 was tested for Angelman's when he was 2, he actually has cerebral palsy. I hope you get some answers soon

[wrinklytum]

Hi Suzieem.Your dd sounds adorable!My dd is nearly 2 and has global delay but no diagnosis.So far she doesn't walk or crawl but is a bumshuffler from 15 months.She also has reduced muscle tone and does lots of flappy movements and clapping.She is very happy and sociable and loves cuddling us and shreiking excitedly.Her only words are "ca" cat "caa" car mummmmaa (babble) daadada and her brothers name.She also attempts bird and sky and gone but only I recognise this!!!She is obsessed by mirrors and reflective surfaces.She has gappy teeth and small head size and I had considered Angelmans but obviously could be a lot of things.She also loves books,but short lift the flaps ones,anything that makes a loud noise.She does point and wave and will clap but this is a very recent development.I hope you get a diagnosis soon,but am sure,whatever,your dd is loved,and that is the most important thing.Sometimes I look at dd and feel sad she is not hitting milestones like other kids but she is such a loving happy child and is who she is.I hope you get some answers soon.

[suzieEm]

Hi wrinklytum your dd sounds the same as mine does she always making you smile
i never told the hv i had any worries about her development i put it down to us being older (a little) parents and doing everything for her and that she was also a twin but the second baby didnt survive past 4 months in the pregnancy so i figured my dd would have been a follower. the hv came round unexpected and said we needed to refer her to the cdu they have been wonderful but it just highlited how behind she is as they ask can she do this? can she do that? all i seem to say is no, i cry every monday after we have been. but she has improved since we started going she also loves books and smooth thinks especially mirrors.she also has a smell head and your very right it could be a number of things
thank you you sound like a wonderfull mummy i need to stop fretting and just enjoy her beautiful personallity it was just a shock when they wanted to do blood test.
has your dd been referd for pysio?

[wrinklytum]

I am far from a wonderful mummy,most days!!I am a frazzled heap but thats mainly a nearly 4 ds who is very active and going through the "Why?" stage!!!!I agree it can be very upsetting.I was in tears after seeing the SALT for the first time who suggested with dd we did Makaton signing.We seem to be getting nowhere!!!She does have physio,at the mo it is to try and get her on her knees into a crawl position and to try to get her into standing without pushing backwards and locking her knees.It is very slow progress but we are persevering.DS is a darling and enjoys helping little sis with her exercises-getting in a crawl position to try and encourage her!!!It is bittersweet in some ways,he is SOS protective of her and cuddles her.I think it really hits me when I see my colleagues dd who is the same age as dd.

[suzieEm]

hi sparklygothkat
thank you for responding. when i first went to the cdu i did originally think she had Cereble palsy but the HV and peadiatrician didnt agree they seem to be sticking with angelman which i think shouldnt have even been mentioned to me unless bloods confirmed it. I dont know may be they have to tell you what they are testing for.
if you dont mind replying could you tell me
what was you ds1 symptoms and how did they test for Cp and did you feel like i do now (am i normal for crying so much)
thank you

[wrinklytum]

OF course you are normal!!!You sound like a fab mum.You have gone through an awful time,I cant imagine losing a baby.I think from reading it is normal to grieve for the "normal" child you thought you had,.When it was confirmed dd had delay I remember going home and crying buckets about things like whether she would ever talk or walk and then silly things like would she ever have a boyfriend,go on nights out,rebel and wear short skirts and do terrible teenage things and having mother daughter talks and going clothes shopping and to the theatre and cinema and fitting in at school and.....the list goes on!Then I read stuff on here and am in awe of people who are fighting all the time for their children and are much braver and have more to contend with.xxxxxx

[suzieEm]

Wrinklytum yet again you are right and you are brave!!
the big thing for me was the mother daughter talks i look at people shopping and chatting freely with their children and think ohhh they havent got a clue how lucky they are to have something so simple yet so special. i nearly freeked out the other night in a check out queue when a mother told her little girl "shut up your doing my head in" she was only singing happily. my DH stopped me in time (i have a tendancy to speak out of turn) its stranged how your views on life change instantly.
dd physio is doing the same thing at the moment trying to get her onto her knees into the crawl position as she finds it difficult from the bumshuffling position. i also have a colleage whos dd is the same age, she is very considerate and supportive.
my dd1 is 19year old now and she loves dd to bits she is like a second mum. in some ways i am lucky. i remember the why stage constant but lovely.

[wrinklytum]

God,I know.There was this mum on the bus today with her dd and she kept saying "shut up,you little sod" to her little girl and I felt like crying.It was really nasty,now I am not a saint and have when provoked by ds endless questions..."Why is...blah blah" been known to say wearily,"I just don't know" but to swear at a childs inquisitiveness...well,maybe she just had a bad day but I would love to think dd would have this conversation but doubt it will happen,or if it does certainly not anytime soon.

[suzieEm]

alyblackcat thank you for that, absolute joy is definitely the right discription for my dd
when was your ds tested and what was the results? and what does RL mean sorry new to this so lots of questions.

[suzieEm]

wrinklytum i think they will talk and i still belive one day we will be thinking oh for god sake shut up. i think she knows exactly what is going on so i treat her as though she does sometimes she respons other times she just looks blankly as if to say are you insane woman asking me that. her facial expressions are so funny they tell a whole story.
your world sounds very much like mine its not so bad is it. this is the first time i have been on here and not cryed like i said before i have been reading other comments for a while but sobbing like a looney.

[suzieEm]

thank you

[wrinklytum]

Hi Suzie,sorry about long gap t'internet went down but yeah,keep smiling along with the sobs.Sure the little uns will get there,in some form or other.Still persevering with Makaton.DD KNOWS SO MUCH MORE THAN SHE CAN TELL.i THINK IT WILL JUST TAKE A LITTLE LONGER,OR WE WILL GET THERE WITH A DIFFERENT TYPE OF COMMUNICATION!!oops capitals unintended!Must go to bed,night xx

[sparklygothkat]

susie, Ds1 was 2 before he was dxd. He couldn't sit up, would flop on the side, crawled on his tummy, and when he started walking he could fall all the time, we had to postition his left leg for him as he couldn't move it himself. He was dxd after loads of blood tests (including Angelmans) and a MRI scan, which confirmed damage to his brain.
HTH

[suzieEm]

thank you for that sparklygothkat i know its all so painfull were constantly thinking whats wrong? the bloods should be back in 1 week now i suppose when you get a diagnosis the correct help can be given. the waiting is a terrible time. i cant even begin to imagin how we will be when the results are back.
thanks

[sparklygothkat]

Its much easier when you have a dx. I will be thinking of you, let us know what happens.

[suzieEm]

will do many thanks x

[alyblackcat]

RL = real life

My DS started genetic testing in July 2006, he was nearly 2 yrs and couldn't walk/talk etc.

We still don't have a definitive answer as the syndrome they have indentified so far only explains some of his clinical symptoms (Arterial Tortuosity Syndrome). We have the name, but so unusual I have vey little information - my Neuro has never seen a case before and doesn't know a neuro that specialises in it - although he is looking for a connective tissue specialist. So after months of being desperate for a 'title' we are no better off!

So we are awaiting some joint genetic/neuro appts.

[suzieEm]

thanks for reply alyblackcat sorry you havent got the answers yet. i have realised there is so many things that could affect our dd & ds. in RL these things never cross your mind.
i hope you also get some answers soon.