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HELP NEEDED - Back from hospital - ?Genetic Disorder ?Epilepsy ?Cardiac Disorder - Advice or experience welcome!(23 Posts)
I posted at the end of September because the Pre-school had raised concerns about DD re: development/behaviour. They asked Area Inclusion Officer to assess, and on 02/10/08 she referred her to a review panel and told us that DD is behind, and needs full 1:1 for all sessions.
On Thursday, Pre-school approached me and told me that 3 times DD had fallen in thin air. Once was when she was stood at the play dough table, and she just literally fell to the floor backwards. (They had told me the same thing in June, and when I took her to the GP I was given antibiotics and told that she probably had an infection.) When I walked home with her after pre-school, I felt a huge tug on my arm and shoulder, and when I looked down, DD was on the floor. SHe didn't jump up straight away as she normally would (she is very clumsy on her feet anyway) and she looked shocked.
I took her for an emergency appointment with the GP, who referred her up to the children's ward. They kept us overnight, and are investigating.
?Genetic Disorder - They are doing chromosome tests, a test for Williams Syndrome, and FragileX.
Other blood tests include Calcium levels etc.
?Epilepsy - she has an EEG booked for Thursday at the Wessex Neuro Centre, how am I going to keep her still, I wonder?
?Cardiac Disorder - Consultant detected a soft murmer that can be heard at the neck as well as heart. He has done an ECG, and she is attending on Wednesday to start a 24 hour ECG.
I've been told there are 4 possibilities:
1) Tumour (almost certainly not the case, but CT scan booked to rule it out)
2) Developmental delays unrelated to falls. Falls caused by epileptic seizure of some sort.
3)Genetic Disorder causing both falls and developmental delays. (Apparently 15-30% of children with delays also have epileptic activity at some point).
4)Falls are just a co-incidence, and have no cause.
Has anyone got any experience of any of the things I mentioned, or any suggestions as to things that may have been missed?
It is all a bit of a whirlwind, and until 18/09/08 I had no idea that DD was anything more than a bit of a handful. Exactly one month later, the future seems a bit more uncertain
Does sound like epileptic seizures - Atonic seizures involve a sudden fall. Can have many many causes though.
Least they are doing test. There are a number of syndromes that can start about this age that are characterised by epilepsy and delay unfortunately. Ask for a second EEG as sometimes things don't show up early in a syndrome.
How has her development been up till now? And language - Williams syndrome is charcterised by severe language issues.
I can only offer some info on cardiac issues; it's usually problems with the electrical pathways that may result in sudden fall/faint without other symptoms for example Long QT syndrome, or another arrythmia of some sort. Some structural defects can cause a spell or faint but there would usually be other signs too. Electrical problems often don't present with a murmur though. Is she having an ECHO (ultrasound of the heart)?
Also an isolated cardiac problem doesn't answer any questions wrt the development delay although many syndromes can include a heart defect.
Thank you for quick responses
Her development has been interesting. I posted here and here
Basically, things that are significant are that we are realising that her receptive language skills are less developed than her expressive language skills. She is quite good at masking though. She HATES sudden loud noises, and this is getting worse. She is fine 1:1 with adults particularly, but finds it harder to join in with children, although she desperately wants to. She has very little perception of danger, and is very hyperactive. She will run off if I am distracted for even a second. She has a great pull for taps, water, soaps and shampoos, toothpaste, etc.
Saggar, I think an ECHO will be done down the line. A paed consultant with a special interest in doing ECHOs did pop to the ward to slip a preliminary ECHO in just to give a heads up, but DD was asleep, and when we lifted DD's t-shirt she woke up - extremely unimpressed!!!
Looking at the list of symptoms and signs for Williams syndrome DD ticks a lot of the boxes for behaviour, heart issues are included, and she has had a murmur detected, hyperacuity is listed, and she is extremely sensitive to noises now, and she has a lot of the facial features mentioned, although lots of NT children could too, granted.
Is the heart defect related to Williams usually an aortic valve narrowing? That is something that could cause a faint.
I'm sorry that you have worries about her.
When my son was aged 6 months - 3 years old, he was mysteriously collapsing (also not eating, serious chest infections etc), and he was investigated in the same way (with pretty much the same tests) as your daughter.
The tests ended up finding nothing conclusively wrong with him!
However, I my son is currently being investigated to see if he has High Functioning Autism (and looking back, he didn't interact with other children in the way he should have (he's 9 now).
Yes, there are various cardiac conditions associated in varying incidence. But aortic stenosis is highlighted.
Interestingly (and worryingly, to me) when they took her blood pressure, it was 114/65! When I looked up normal values, given that she is on the 25th centile for height and weight, her blood pressure is on the 99th Centile!!! They didn't make any comment on her blood pressure, but to be on the 99th centile is pretty scary. The consultant did ask for either a both arms BP or preferably 4 limb, but DD declined. An assertive patient at the age of 2.10!
Also, worringly to me, the consultant measured her head circumference. It is 46cms, and the consultant asked me if I knew what that was on the centiles, lol. Of course, I didn't and neither did he. However, having looked it up, her head circumference is only on the 5th centile It isn't a family trait, either.
tiredscot, I hope you get some answers soon. To be honest, in a way, I am hoping the tests come back positive for Williams, because although it is pretty scary reading, at least I will have an answer , and I just want to know how to help my little girl get the best out of life.
forgive me if I am wrong, isn't williams syndrome characterised (amongst all DDs symptoms too) by elfin features? Is she elfin looking? Not saying that the lack of wd rule out WS of course.
The falls do sound like epilepsy to me I think they are atonic (still learning the lingo and reading lots!)
I know how you feel to be stuck in a whirlwind of emotions and you have my sympathy, but please take heart in the fact that they are investigating and not fobbing you off. I totally get it when you hope for a diagnosis (ours will be years away ) - sometimes I wish they'd be able to tell us, even if it was something terrible, coz then at least we'd know. The uncertainty is very difficult. Do keep in touch.
feelingbitbetter, you are right. I have always thought she had a little elfin face, it is cute, but it is hard to know whether she truly has. She has a very fine bone structure, quite a wide mouth, and a big bottom lip (disclaimer, so do DH and I, so could just be inherited feature). She has quite a flat bridge of the nose, which is part of why the test is being done, and the consultant commented on her 'unusual teeth'. She also has an unusual eye pattern, which he noticed. She does have a broad forehead, and a small chin. She often looks puffy eyed too.
She is also only on the 25th percentile for height and weight, whereas DH is 5'10 and I am 5'8. I am quite low in weight genetically though.
Having said that, it could all be co-incidence and over-analysis.
Yes, from what you've said feature wise, it does seem to tie in with WS especially the eye and teeth (think they choose to look through one eye to focus, is that right?) Also the flat bridge of nose, but like you say, could be looking to find them now. I have seen a picture of someone who I suspect has WS (I haven't been told and don't want to ask) and I could eat him he is soooooo cute!
Is she developing well in other areas? Mobility, play, motor skills?
Another thing, try not to think too much about the head circ (tho if you could see dome of my threads you'd be thinking 'pot?' 'kettle?'. I have learned that development is the only real measure of development, and I love my DSs little head! (tho I did flap about it for a bit!)
hi lou, don't have much to add but wanted to say thinking of you in this situation. And it's great that all those possiblities are being investigated. My ds2 started having seizures last Christmas and we paid privately to have an MRI and to have his heart checked (being worried about long QT in particular). It's now definitely epilepsy, and is responding fairly well to treatment, but we're glad we checked out other things earlier rather than later.
anyway, hope your tests show something conclusive.
I appreciate all the replies so much - it seems like a lonely world when stepping into Special Needs for the first time.
Not sure about the focussing thing, and you are right - I need to make sure I don't get Williams obsessed, in case it isn't, and I get deflated that I don't have any answers.
I am trying not to flap, it just seems so scary when I see a blood pressure of 114/65 and think that's a bit high! (I am a qualified nurse, but adult branch), but they don't comment on it, then I go home and look it up, and for height and weight, her BP is on the 99th centile, when the 95th is classed as hypertensive!
And the head circumference thing, being on the 5th centile when there are delays in development is a bit freaky, too.
Her mobility is shaky. She loves to walk, and tries hard, but she is unsteady on her feet, often stumbles and trips, and still at 2.10, uses her hands to steady herself as she walks, and certainly runs a bit like a penguin. She tries at things like soft play, but she is quite small in stature, and although she loves to climb, she just can't manage. She has to really concentrate to traverse a narrow section, and will often crawl across.
Her play is OK one to one, and especially with adults, but she will not break in to a group of children at all, even 2 others. She has to be led to the group, and shown where to join in.
Gross motor skills are lacking a bit, but she has good spoon control, can pick up really small objects, etc. However, the only attempt she makes to dress herself is to put on the neck of a jumper/ t-shirt. She can't get it the right way, or even get her arms in by herself, but can with assistance. She can pull down her trousers, but unless she has them half-way up (i.e. pulled down to use the toilet), she can't put trousers on at all. I have to fully dress her. She can't take socks off easily, and definitely can't put them on at all. Likewise for shoes. If I try and put a coat on her, she will always try and walk into the coat, ie. arms straight forwards into the holes, which would mean the coat is on backwards.
She still shows no interest in what she is wearing. She doesn't choose clothing, show a preference, or choose a skirt rather than trousers for eg.
Oh, you are definitely entitled to a bit of a flap (or a lot of one). It is scary. What I was trying to say was, I wasted time getting obsessed with tiny things (like head circ), whilst missing the bigger picture (that DS is doing fantastically well).
You sound very well informed and level headed too, you will be fine, I'm certain.
I know exactly how you feel when you say you want to get on and do what's best for DD. Don't forget, that having a bit of a vent on here is a good thing too, if you need it. I usually read other people's, then feel much better.
Do let us know any news. I will be watching thread with interest!
I am new to this forum so hello all
My son has ANGELMAN SYNDROME-epilepsy (atonic, myoclonic, tonic and clonic & tonic-clonic, well controlled with meds) no speech, fascination with water (of any description!), anything plastic or squeezy (toothpaste shampoo etc) unsteady gait when walking-he uses his arms to balance, he doesnt sleep well and is hyperactive. Some kids do have heart problems but not in the official dx. He has a flat back of his head and officially they have small heads (My son doesnt). Some kids do have a few words, it depends on the karyotype. Usually deletion OR rearrangement of chromosome 15. They have a wide forehead, pointy chin, widely spaced small teeth, and a large lower jaw (more obvious as they get older) most with a deletion are blonde and fair skinned. They laugh ALOT! and they are very happy and loving. Its quite rare-1:30.000, and is sometimes mis diagnosed as autism or cerebral palsy. You may have to ask to be tested specifically for it if your GP has never heard of it. See www.angelmanuk.org or helpline is 0300 999 0102. hope it helps
I have read the link you have provided with interest. I would be surprised if she has Angelman Syndrome, as some of the features are in direct contrast to DD. Thank you for thinking of us, though
Hi Lou, my son has WS. The facial features you descrive sounds as though it could be WS and the disliking of loud noises ( although many children do I know!). Aaortic valve narrowing is the heart defect associated with Williams,- fortunatley my son doesnt have any heart problems, only a slight mumour which corrected within 6 weeks.
My son is 3 this week......he is on the lower end of the centiles and is severely delayed in his development de to the onset of Infantile spasms( a type of epilepsy) when he was 5 months, we now lopnger has any epileptic activity and is off all medication.
YOu mention the Wessex neuro centre- where abouts do you live if you dont mind me asking?
i know you dont soley want to focus on Williams on the moment but I just wanted to say that should your dd turn out to have Williams then there is a great support group-you might want to check this out somtime in the future if you do get a diagnosis.
I would also be more happy to get you my email address. My son is unique as he also had the IS as a baby which paints a different picture however I grew up with a lady who has Williams and she has a son who has WIlliams.
I hope you getthe answer your're looking for
I'm glad you found this thread. It was your beautiful boy I was talking about further up. Wasn't certain it was williams though. He is lush
I quickly read the thread and replied and read it again and saw your bit and quietly hoped you meant him Thankyou.
lourobert, thank you, thank you, thank you for replying to my thread!
To be honest, all I can focus on is Williams, because I feel as though I have found a description that fits her like a glove.
Even the Consultant asked if her little fingers have always curved inwards, which I know from reading is associated with WS. I feel as if I could cope if I know what she has. It is the uncertainty that is so hard.
I live about 10 miles out of Southampton and Portsmouth, and 8 miles out of Winchester.
I would love your email address. You could email it to me at lou031205 at googlemail dot com.
Yay, glad you found each other. Was getting a bit confused with which Lou was which!
Please keep us (me!) updated Lou031205. I'd love to hear how you get on xx
I live in Portsmouth and work in Fareham. I will definately email you.
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