Hi
my son had some difficulties at birth, and was born not breathing, had to be intubated and was in SCBU for about a week. Vague ideas on notes about him having HIE, various tests done, and has had follow up appts with paed every 3-6 months.He's now nearly 5, and paed is referring him to LEA for possible statementing.

He was delayed walking, has had some physio input (twice yearly), wears piedros, and has low muscle tone, wears glasses for squint. Paed did various blood tests to rule out things like muscular Dystrophy etc, but is adamant low muscle tone etc not due to birth. He has seen by a development paed (referred by first one) for griffiths assessment who said probably/possibly birth related, as did our GP. For various reasons I've lost confidence in our main paed and would like a second opinion, and so need to find a private paed. {we also do private OT as NHS OT was going to be 6 monthly, and we're doing it about weekly).

However, the GP was not much use in suggesting who it would be best to see. I don't know if the "expert" would be a development paed or a "neurodisability" paed or someone else.

Thanks for getting this far and any suggestions for best sort of person to see, or even better a specific name, preferably in London or herts/bucks area.

Also any idea about cost would be welcome,as I've no idea what a private consult would cost.

Hope you don't mind me posting here, as I'm sure to most of you my son's problems are relatively mild, but I thought that someone on this board would have seen the main people in this field.

Again many thanks.

Hi

I'm sorry I can't help you with a specific suggestion for a private paed but it sounds like you need a second opinion, or at the very least to have yr current paed rethink his approach. How can yr paed be so adamant that low muscle tone etc are not related to birth? Has yr ds had an MRI? (even that's not definitive but it's a good start)

I hope you find the right person soon....

Oh thanks for answering.

No MRI, not been suggested. He had an EEG at 6 months to rule out absence seisures. We've had loads of blood tests including some chromosome testing and a couple of specific genetic ones.

It's just difficult for me to gauge how "serious" it is and what sort of tests would be appropriate, because obviously I'm not a doctor so I don't feel I can ask for something, and I certainly don't want my son to have any tests that aren't necessary. But I felt that if I saw someone privately who had an expertise rather than a general paed I would believe what they said more.

On the other hand I don't want to go privately and they order loads of unnecessary expensive tests that end up still inconclusive.

I just feel it's reasonable for someone to give at very least an educated guess as to what has caused his problems and what the future holds.

Hi
I thnk part of the problem might be that low tone, squint and delayed motor skills are present in so many different medical conditions. DD didn't have breathing problems at birth but has all the above plus speech and languge delay, dysmorphic features and some extra fluid in her brain--but her symptoms have so far eluded diagnosis.

We've seen a developmental paed, general consultant paed, neurologist and geneticist. I think the person who seemed to know most, overall, about what her symptoms might mean--and works closely with everyone else--was her geneticist. If you haven't seen one already maybe you could get a referall?

They may still be unable to diagnose, but on the other hand they may have some good pointers and can rule things out.

Our geneticist works for the regional genetics service based at Gt Ormond St but she holds clinics at our local hospital.

HTH

Dr Nick Cavanagh

he is based at the chelsea and westminster hospital for the nhs , but also has a private clinic

if you call there and speak to his secretary she will give you his private number to call

Hi
thanks for this.

We've not directly seen a geneticist, just had some chromosome tests done, but a family friend works in that field and she didn't think that there was anything else that should be looked at.

Thanks for the name of Dr Cavangh- he certainly looks promising. Did you see him privately? He only does private work now and is at the Portland and I've no idea what that will cost!

cant you ask for a referral to a geneticist?
we saw one who was crap and then another at manchester who listened and was very good.
even if its not genetic it would help.

btw my son had motor delays low muscle tone difficulty waking. and my daughter had difficulties breathing whenborn
they both have the same genetic disorder, so i really recomend you see someone on the nhs.
some of the tests we had done were £5000 each ! if we had paid for them.

what does your instinct tell you? i was told that mothers are nearly always right about suspecting a genetic dosorder in their children and it was this gut feeling that i followed and asked to see another geneticist.

good luck we fought for years, so if i can give any help just say

his private work is at the portland and his nhs is at hte c&w

he is a really lovely man, very good at his job, i had dealings with him for about 10 years

i mostly saw him on the nhs but i did once go privately

i would definitely recommend him

I definitely think it's worth pressing to see a geneticist on the NHS. Can't do any harm. It's not so much for tests but because of their diagnostic experience--they see all the children with possible genetic syndromes. Ours is Dr Louise Wilson or her locum Dr Sue Holder from the NE Thames Regional Genetics Service.

A really good paediatrian is Dr Hislop, at the Pat Lewis Child development centre, Hemel. She is absolutely brilliant and helped my son in so many ways when he was little. My son is no longer under the CDC, and I miss our old paediatrian.

You would have to see her on the NHS, but your GP might be able to refer to you her if you live in the herts/bucks area.

I am absolutely amazed they think its a problem caused by the birth (which seems likely from what you have written) yet they have not performed an MRI on the brain!!!! You need this done now to rule anything in or out. Its just not acceptable that they have left him until 5 yrs without giving him one, it really isnt that difficult for them to sort out. Did you have a traumatic/mismanaged labour/birth? UIs this why they have left it so long?

There is little point having genetic counselling before a brain MRI tbh

dr andy raffles, hes based at viveka, st johns wood, fabulous. i think last time we went it was £155 for half an hour, if you can get into london quickly you can usually get a cancellation.

i dont know if this is what you are looking for but we also took dd to a consultant paediatric neurologist and neurodevelopmental paediatrician, Dr Diane Smyth, very thorough. she practices out of the portland but is based at paddington and got us in there for thre tests she needed on the nhs, £300 and hour.
again difficult to get in, 3 to 4 weeks waiting but we got a cancellation.

Great
thanks for these names. The trouble is because in many areas eg language skills he's obviously fine, and because he is obviously progressing, it's a bit of "let's just treat the symptoms, we're ruled checked for all the main nasties". I don't really know how bad it is but the main paed was suggesting we should try for DLA, but he's the one that says it's not the birth.

I suppose if I saw someone privately for a consultation - which we could afford to pay for- we'd have the basis to go back to the NHS paed and request something like an MRI.
However if the private paed says it's not necessary then it's put my mind at rest.

Would it be appropriate to email a private paed and give a brief summary of my son's problems and ask them if they were the right person or is that not the done thing to contact a consultant directly.

thanks to everyone for all their advice.

i usually call their secretary first, they will advise.

It sounds like you don't have a lot of confidence in your current paed - but before you start chasing a private one it might be worth asking him about his views re an MRI.

Does he welcome calls or do you need to wait for your next appointment? Is this something you could discuss with your GP?

An MRI won't necessarily be the answer but if there was damage caused at birth there's a good chance it will show.

FYI Another great parent forum is www.specialkidsintheuk.org