I just can't stop worrying about Sebastian and need to a/rant and b/plead for lots of advice (obscenely long, sorry, but I really need your help)

[emkana]

Good evening all,

in spite of the good-ish news yesterday I am frankly still beside myself with worry about ds.

Reasons:

1. When you look at him he does seem to have a small chest, his trunk is bell-shaped.
2. His breathing is still fast.
3. He has sub-costal recession, which means he pulls the skin in just under his ribcage - this is recognized as a sign of respiratory distress.
4. Even though the report by the radiologist said that achondroplasia could be ruled out, it didn't make clear if all other skeletal dysplasias could be ruled out. So to my mind Jeune's is still a possibility, because how do I know that the radiologist even considered this as a possibility/knew the signs?
5. Every time a new midwife comes and looks at him (and I see new ones all the time) they shake their head and look worried because of the things listed above in 1. to 3., and they keep telling me not to hesitate to contact a doctor if things don't improve/get worse. So not very confidence-building.

On the plus side it has to be said that ds is alert when awake, hardly cries, is feeding very well and is a good colour. And when I took him into hospital again on Wed because the midwife got me worried about his breathing etc. they said that this is just the way he was because he was "odd" with the size of his chest and to mainly pay attention to his feeding, colour and temperature.

NOW, if I was in Germany I could ring up a paediatrian and arrange an appointment at his/her surgery to get ds checked out. If I wasn't happy with what the paediatrician said I could ring another one to get a second opinion.
Here, I feel so powerless. Yes, I could go to the GP, but what do they know? I would like to speak to the radiologist in person to quiz him about the x-rays, but I don't know his name or whether he would be willing to speak to me.
I could ring ds's consultant again, but I think they have me down as hysterical already and see absolutely no need to do anything before his follow-up appointment end of July.

But I want to do something, I can't just wait and see like this. I want a paediatric expert to say to me "according to the x-rays Jeune's can/cannot be ruled out."
What can I do? Is there anything? This is driving me absolutely bl*dy insane.

Just call a paediatrician and get a second opinion

It really is easy. Tell me where you live and I will get dh to recommend a good one

CD, I didn't realize you could just do that! Phew!
I live in Gloucester.

yy you can

Prob is we are going away on holiday so he won't have access to his stuff til we get back (unless he knows someone offhand)

Someone on here might be able to recommend. You will have to pay privately of course

Have a nice holiday!
When will you be back?
Do you know how else I could get contact details?

Oh emkana, he's your baby, you are right to worry.

Forget about the consultant thinking you are hysterical, say you need some answers and you will come and camp in their office until you get some!

All the signs you listed about him being alert and feeding well sound really good. And if he's not crying much then you are obviously doing a good job with him

Think of you everytime I come on MN and sending best wishes to you and your family

here may be a good start

We are going for a week on Sunday (if dd is well enough grr)

I wish i coud advise you, all I can really say is fight. Fight tooth and nail to get to see tis people. Bollocks to people thinking you are hysterical, you're not, and who cares what they think of how you're acting. You are a worried mum, do what you need to do. Scream, shout, stamp your feet and be heard. Hope you get some answers soon, ansers you want to hear.

You could call them and see if they had details of specialists in Jeune's etc

emkana, I'm amazed that after all you went through while you were pregnant that you aren't still under the care of someone more highly qualified than a midwife.

he's feeding well etc so that is good

Def get second opinion as I suggested in your other thread.

2 routes to fast access to a paediatrician, emkana - make a fuss with your consultant/ ask for second opinion/ ask to see radiologist again OR go private. One sonsultation is probably around £50. Arrange it through your local private hospital or by contacting your nhs paediatrics dept and asking there.

Sounds very good to me that he isn't crying . Make a fuss and push for what you need. Sometimes you have to fight for things.

I think one of the mums at nursery is a paediatrician...will collar her on Monday and find out. I'll ask her how you can get a fast referral. You should be getting better follow-up than this Emkana after all the scares sent your way by the medical profession.

You could ask your GP to track down the radiographer.

As you're specifically worried about Jenunes could you call and talk to the woman you saw antenatally, and ask her to recommend someone, or just discuss issues with you. I would be worried about seeing a general paed because they may not know very much.

I do know how you feel, it is awful, almost worse than being told something is wrong, because you just end up floundering around all over the place. You do need to talk to someone and get them to really have a look and tell you why they have ruled out jeunes (if they can), but also tell you how they propose to keep an eye on Sebastian if they can't rule it out.

Hi Emkana, god, you have every right to worry, to be hysterical and to bang on the door of every consultant in the land to get the answers you want. Don't worry about what they might think of you.

My friends dd has achondroplasia and they got the dx at about 4 months IIRC, the hopsital kept fobbing her off with a 'lets see what happens attitude', but she knew something was not quite right and kept at them and at them, so you need to do this, for piece of mind.

I can totally understand that you want to do something, we'd all feel like that.

Thinking of you all.

Didn't you see an "expert" whilst still pregnany? Dr something beginngin with C? Can't you speak to them?

Much sympathy from me Emkana - I can imagine how fraught with worry I would be in your position

It seems to me that although they are gradually knocking things off the list of possible issues, you are still living with a great deal of uncertainty as to whether there is something wrong with him.

I think at the very least you should ask for clarification of waht has been specifically ruled out at this stage - i.e is jaunes still likely or not.

I suspect that a general paed referral isn;t going to be that helpful to you. I imagine that when dealing with a case like Sebastian's you will probably need to access someone who is a specialist in those conditions which are most likely to be an issue for him.

I would definitely try and see the expert in jaunes that you saw antenatally - IIRC she seemed to really know her stuff!

In the meantime - I hope you manage to enjoy your new baby in between all this angst - it must still seem such a terribly difficult time for you all!

Em - did you see my link on your other thread? My friend's dd has Ellis van Crefeld and it's similar to Jeune's. E-mail her, she's very knowledgeable and will maybe be able to recommend someone. She's a physio too so has some skeltal knowledge.

You're bound to worry until you get an expert opinion especially after the pneumonia episode.

Take care.

Second what others have said, emkana locate the appropriate paediatrician and find out where they do their private work, phone up and bingo. It isn't even that expensive usually £100-150 for an outpatient consultation, tho' tests will be extra. But you could take the existing X-rays with you to cut down on cost and extra radiation. Another possible source of good names is to phone the main insurers (BUPA and PPP) and ask who they would recommend.

Just to reassure you, it is very common with unusual medical conditions to have experts reassuring you and non-experts freaking out. I used to have this all the time with my v. rare disease, but you do eventually get used to knowing more than all but the most specialist medics. The sign of a good dr, btw is that they know the limits of their knowledge and are prepared to be guided by you. We've had similar issues with dd1's eye problem as well -- Moorfields kept discharging her, then we'd go for a 6-month eye test with a normal optician, they'd freak out and refer us back to Moorfields, who would examine her and discharge us again and so on. We had several rounds of this until we found a teaching clinic that could get their heads around her weird eyes without being unnecessarily alarmed.

You will become incredibly experienced and competent at dealing with any issues your ds may have, but it is still early days yet. But worth learning early on not to allow untrained people's opinions to give you sleepless nights. If I had a quid for every stupid thing medical staff had said to me over the past 20 years, I could pay my mortgage off (and we live in London...).

Halt die Ohren steif!

thank you for all the advice. I think what I'll do is contact the consultant initially and ask her to clarify with the radiologist whether he can rule out Jeune's as well as achondroplasia. If not then I will suggest to the consultant to be referred to the European Skeletal Dysplasia Network, which I've found on the web.
I just hope the consultant won't try to fob me off.

Saggarmakersbottomknocker - thank you for the link on the other thread, it was very interesting to read and I found some helpful info on there.

hi emkana
you've got some great advice here, I just want to add that you must push and push and push until you are happy you are seeing the right people and getting the right advice. Some consultants can be offhand and treat you like you are panicking over nothing but that does not mean they are right!! Keep on nagging and researching and asking questions. also remember that you have a right to ask to be treated at any hospital and by any consultant you want (well,I think so, act that way anyway, in an assertive manner)under the nhs . can you phone up and speak to the expert in jeunes you saw antenatally and get her advice on a good consultant - you will have to fight your way past the secretary to do this! but it is possible - just make a big fuss.
Final bit of advice, are you keeping a file of all consultations/test results/every meeting with any specialist etc? It's really useful because you might end up seeing a few people before you find someone you are happy with and you can't trust the nhs not to lose all Sebastian's records or to miss something out. You can ask for a copy of every letter that is written to your gp etc for starters but also it is very useful to keep you own records of any tests that are done as records are not kept centrally under the nhs.
hth
all my best