Tests tests tests oh and more tests/referrals

[Keeptrying24]

Hi,
I posted on here previously about concerns i had for my then 16mo DD, im posting again because im guessing that you mummys on here are probably going to be the most knowledgeable and i hope that i can maybe get an insight into what to expect shortly!
My DD has seen a paediatrician due to her late development in all areas!
So she has been referred to a Neurologist, also for Genetic testing, she had been referred for physio and speech therapy also for a CT scan as her soft spot is still very large and open! And also to a podiatrist.
I kind of know what to expect with regards to the physio and speech therapy it is more the Neurologist and the Genetic testing that worry me more.
I worried about what tests they will do and what my DD will need to go through :-(
I have been worried about her for some time and of course i want what is best for her however I can't help but feel so guilty putting her through all of this, ive pushed for so long to get answers for her and now i feel like i should have just kept my big mouth shut and then she wouldn't have to go through any of this :-(
Sorry for the long post!

Now I owe my life to the work of neurologists so I can help you a bit with that, I hope.

As I was in a teaching hospital, I had students trouping through and practising on me too!

The bulk of the testing we for reflexes - you have probably had those already, and also testing for sensation with cotton wool and, as I am pretty numb, they worked up to a pin which I could barely feel. Then there were Ishihara tests on colour blindness, and other tests on vision eg following a pin head moving around, and then towards me and away. I have a dim recollection of some hearing things but I didn't do enough that was interesting on those to have them repeated.

There was plenty of checking limb function and balance which is my main issue.

The big tests were the MRI scans, which I have no problem with, but you have to keep still. So not sure if they would do that for dc.

I think you are right to look for answers. Early intervention is so often the name of the game, but they need to have a crack at working out what is going on, so they can optimise treatment/therapy.

My dd had to have blood taken when she was little and they gave her skin anaesthetic so it didn't hurt. She didn't even flinch. And I understand that a whole gene sequence can be mapped just from saliva anyway.

Hope this helps

Thank you senvet!
That helps although im not sure how they will carry out some of those tests on DD she is only 17 months so im not sure what her reaction will be :-/ we have an appointment for a CT scan already which they said she will be sedated for as she needs to lay still for that too, im thinking they may sedate her for the MRI as well but then im unsure if that would give accurate results, its all so complicated :-(
My DD has already had some bloods taken and although she never had any numbing cream she never flinched either she was more bothered by being held for the bloods than anything else which of course has caused more worries :-(

For the MRI scans they usually give children a general anaesthetic. Ds had an MRI and bloods taken, they wanted to do a lumbar puncture as well, but we held out and it has since been deemed as unnecessary for him. The worst thing for ds is the bloods, after an horrendous occasion where they took 12 samples, and took so long he passed out. Since then I have become much more bolshy - he doesn't have the cream, as ime it doesn't help, but makes him much more freaked out, I also ask for a particular nurse as she is quick and doesn't mess about.

We were unable to get gene samples from ds's saliva, so blood had to be taken for a study last year, he was having a general anaesthetic for something else around that time, so I asked that they did the bloods whilst he was under the general - they may be able to do this if she is sedated/under a GA for the ct scan or MRI - it would be worth asking.

My daughter had an MRI scan with oral sedation about 15 years ago when she 2 and also had a blood sample taken whilst she was still sedated, this was for a possible metabolic disorder.

She had blood taken for genetic testing on a different occasion and we just held her tightly.

I can still remember having a whole barrage of appointments and how hard it was. We went from January to the end of March one year with at least one a week and it was really draining. Although none of the tests revealed any "answers" for my daughter's GDD, I am glad we did take up all those appointments.

Good luck. You are doing the right thing.