DD has appointment with Neurologist next week advice please :-)

[Cazzybaby]

Hi All

I feel that I need to write this all down to keep me sane! Sorry if it is a bit long!

DD is due to see the Neurolgist next week and I do not know what to expect.

At 4 months old it became apparent that she was not developing on track. She was not holding her head and began having a funny shaking movement. The shaking was very rapid as if she was shaking her head to say no very quickly. She was sent to the GP who then refered us to our local hospital. She also had a squint accross both her eyes and a small head. She had a CT scan as they thought that the bones in her skull had fused together early. The CT scan showed that this had not happened.

She is a happy smiley little girl, very content. She is now 8 months old and has been assesed at our local childrens center this week. They have concluded that she has delays in fine and gross motor skills, as well as this strange tremor of her head and upper body. She also has low muscle tone and more flexibility in her legs than would be expected. She has been refered to the Neurologist following a fit 2 weeks ago where all her limbs began to shake.

The shaking appears to be muscle related although it has been noticed that it also may happen as a result of very loud sounds. It also appears to be involentry, and is starting to upset her. My health visitor thinks that she may be more aware of it or experiencing some kind of sensation that she does not like.

The doctors do not believe it to be epilepsy as the she does not blank out with the shaking.

At 8months she is not sitting unsupported and will not weight bear through her arms or legs. She has just started to lift her head of the ground when placed on her tummy.

I am wondering if anyone can share advise with me on what to expect at the first appointment, which we have at St Thomases next week. And also would be interested to hear from anyone that has has experienced anything similat to this with their child.

I'm sorry for such a long post, I am trying to stay strong for my beautiful baby girl but not knowing what if anything is wrong with her is difficult. I think I am searching for answers which may take some time to get. It is hard to talk to people in RL and think that maybe writing all this down will help me!

Thank you for reading

C x

I have no advice sorry but wanted to wish you luck for next week. Hopefully someone will be along later who can help.

I have no real advice either but I do see a neurologist once a year (my annual audience!). In my experience neurologists are not natural communicators. The last one I had was so dreadful I refused to see him again.

Write down everything you want to know/ask about. Write down all your worries. Plough doggedly through the list and don't let him/her talk over you or ignore a question. Whatever he/she says, make sure you understand it and if you don't, ask - and ask again and again until you do.

I may have made this sound like a Herculean task, it isn't. It's just that I have had too many audiences which have left me feeling it was a complete waste of time, because I haven't been strong enough to push.

Good luck, hope you get your lovely girl sorted.

Thank you for your replies. FioFio what do genetic counsellors do? DD has had her chromosome analysis done and it came back clear!

I am starting to think that most doctors and specialists shoud be sent on some kind of patient liason courses they are all crap talkers, and listeners!!

Jux I will make myself a list, I have also got a video of DD to show him so he can see her having a shaking episode do you think he will agree to watch this?

ask about epilepsy. Myoclonics don't always cause a loss of consciousness. Demand an EEG to rule it out.
Ask about cerebral palsy. Its a common reason for motor delay.

He might watch a video depending on time and whether he has the facility to play it. It is certainly worth taking along and offering it, but don't be too upset if he doesn't avail himself of the opportunity.

the neuro will examine dd to check her muscle tone and reflexes (also to see if she has lost/ retained any newborn reflexes and if this fits with 'normal' neuro development). they will talk you into the ground about pregnancy and birth history, and ask lots of questions about other developmental stages which she may or may not have reached. as riven said, cp is a common cause of motor delays and issues with muscle tone (i am sure you have already googled 'low muscle tone' so i won't labour the point) - also squints, tremors, and sensitivity to noise. it will be enormously helpful if you raise the possibility of cp with the neuro - otherwise they tend to skirt round the issue for a couple of years worth of 'developmental delay' - and if the neuro says 'no', then at least you won't be fretting about that for the next few years...
they might refer for MRI (to look at physical presentation of brain) or other scans which will monitor electrical activity patterns to check for any unusual activity (as a sign of epilepsy etc)
just wondering about the head shaking - you said dd has a bilateral squint - is she 'swopping' the she is looking with? has anyone mentioned nystagmus? sometimes children with different eye conditions can make movements with their heads to try to compensate for whatever their eyes are doing lol... doesn't explain upper limb involvement, but trying to think of any other possible causes from what you have said.
notwithstanding all that - if she has noticeable developmental delays and they have been recorded by the cdc, make sure she has been referred for physio etc whilst all the other tests are being done. have you already been put on the list as a result of your assessment?

swopping the 'eye' she is looking with... sorry!

Thank you for the advise Romy - she is under the opthamologist (sp?) for her squint and he does not think that the shaking movement is linked to her eyesight as it is too quick almost like a tremor.

She is under the local childrens center and they are starting physio with her tomorrow and also she will be seeing the OT. I am really happy with the care that she is receiving from them, it is nice that they actually know who she is and have spent time with her, she's not just a name in a book! If that makes sense.

They have swept around the subject of CP, saying that some of the things that she does do appear to be symptoms of CP but they dont want to make assumptions, they are just keen for her to be seen by the Neuro, they too have told us to ask him directly about CP.

I only started reading into CP yesterday but the more I read the more it sounds like DD. The hardest thing is not knowing, I am just deperatly after answers! I would really like them to be able to DX her so that they can start to control her shaking as it is starting to upset her. Its so hard to watch your child struggle and not be able to help

it took us two years to get a cp dx but we didn't ask until that point, so they left us with 'developmental delay' lol.
it sounds as though they are looking after you and dd anyway, which is a good start. hope your neuro appointment is useful
dd2 outgrew a lot of her tremors btw - physio helps a lot, ime baby massage was also a really good idea - dd2 was enormously tactile defensive about her arms, but i've heard since that a lot of tinies with cp respond really well to massage as it helps them locate their limbs in space and work out how they are all connected lol. no idea how scientific that is, but once we persuaded dd to let us touch her arms it was very beneficial! we joined a baby massage group but just sat and watched (and practised on a doll lol as dd2 screamed blue murder if we tried to undress her etc etc)
answers can be ins hort supply for the first wee while, but as long as therapy is continuing, try not to let it distress you too much xx

I am going to start baby massage next month one of the midwife locally who has met DD suggested it to help improve muscle tone. Thank you for taking time to reply, glad that you managed to get dx! It helps knowing that there is light at the end of the tunnel.

more light than you could ever imagine in this case although they have changed their minds about the type of cp she has lol, so no answer is a definitive .
dd2 was 5 this week and has just started mainstream school.
even if dd won't let you 'join in' make sure you stay for the groups anyway - then you can go home and try to persuade her after bath time...
good luck with everything

WRT genetic counselling, which you asked about earlier.

(I am doing a 2m course on genetics with the OU btw, and this is what they say about GC)

They will give you information about the genetic test(s) to be done, and their possible outcomes. They will help you to consider the implications if a test is positive. They may explain to you how the genetic side of it works (vis a vis heredity). They should also explain the disorder being tested for. They are not meant to 'direct' you to make any particular decisions (inc whether to have a test done at all).

I sincerely hope I have got this right as I really don't want to mislead you. I hope someone who knows better than me will come along and correct me if I am wrong.

Genetic counselling may be completely irrelevant in your case, anyway so let's not break eggs yet!

Good luck.

I second the advise to ask for an EEG. May not give you any answers. My DS has had 3 now and all have been clear despite constant random myoclonic seizures. As a bit of background, he suffered severe brain damage as a result of hypoglycaemia and was constantly fitting for several days following his birth. His seizures may be 'just' a result of his brain damage, but he is at increased risk of epilepsy, so neuros keen to keep an eye on him. Good idea with the video, took us several visits to the neuro for her to witness his seizures. They may ask you all sorts of questions about your DC which I found hard to answer i.e. how often do these episodes happen (sounds simple, but I couldn't really answer it ), are they related to feeding times, sleeping/waking times, is DC aware of them (my DS is becoming aware only very recently) or visibly upset, do they interfere with any of the above? My DS wakes himself constantly as they increase in his sleepy stage. They also increase when he is very upset or unwell. It might be worth you having a little study of them over a day (hard I know as I still find it distressing) and write down all you can. Any info you can give will be a great help and you won't feel like a complete numpty like I did when they ask you a question you can't answer. Again, seconding other suggestions, raise the question of CP and Epilepsy, doubt you'll get an answer for a while yet, but at least they will know you are aware already if they need to address the issue in the future. Make sure you get a follow up appointment even if they seem to think its not necessary. You have my sympathies, we are in for the long haul too and I find the uncertainty very difficult to cope with. Good Luck to you and DD.

hi been through and still on going through some thing similar, dd is now 15months its a nightmare tbh , we see a neuro lots still but still not got a dx i to have thought my dd as cp , she as feeding problems, can not tolarate lumps fail to thrive ,reflux hyptonia, hypamobile sezius most which relate to cp it as been menstioned a few times but not by thr peads its been the nurses and ss woman we have and they have said unless itshows on mir scan they wont dx until they really are sure . we have took all our videos of dd seizure on phone to him ,some times 5 and hes looked at every one, they like looking at them.

please keep us imformed

Thank you all for replies and advise. I guess some of our DCs are medical mysterys! I now have lots of ideas of questions to write down for the Neuro, as well as an idea of what he is going to ask. I am eager for her to have an EEG to rule in or out epilepsy.

Thank you for sharing your experiences with me.

also dd had 4 eegs all inconclusive so dont always give answers

I am feeling much more positive after a really good physio session this morning. They are trying to get a special chair for DD to use at home to help her learn to sit unaided. I guess that even if we dont get any dx quickly that we are doind all we can to help her reach her milestones

is it a corner seat? they ordered one for dd butwhen itcan 3m later she could sit, but its good you got help early as it works we been told if dd didnt have help she ould still be just layed on her back, good luck