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to want to phone the GOSH geneticist to tell her she doesn't know what she is talking about

(22 Posts)
emkana Thu 14-Aug-08 19:20:13

After recent x-rays were taken of ds (now 2) the films were sent to Great Ormond Street to be considered by the geneticist there. She has come back with a diagnosis of a type of dwarfism called Ellis van Creveld syndrome. Now according to all I have read and according to the mother of a son who has this condition the defining feature of this condition is that the child has six fingers and/or toes. Ds does not have this. So I am thinking wtf is going on now and I want to phone and question their diagnosis, but then I feel a bit bad about that because after all she is a geneticist and I am not...

megcleary Thu 14-Aug-08 19:22:18

no harm is asking the question do they not do more genetic stuff by blood tests though?

misdee Thu 14-Aug-08 19:22:50

well, is it the defining feature, or ONE of the defining features (am now googling)

ilovemydog Thu 14-Aug-08 19:23:06

How does it work - will you be seeing a consultant who will discuss the diagnosis with you?

emkana Thu 14-Aug-08 19:23:35

Yes they have proposed a blood test and I guess there is no harm in doing that.

I just don't understand why they keep avoiding diagnosing him with hypochondroplasia, which is as far as I can see the obvious diagnosis.

megcleary Thu 14-Aug-08 19:25:12

As far as i know blood tests are more reliable for genetic tests.

TheArmadillo Thu 14-Aug-08 19:26:17

can you phone her and talk to her about it?

If not her then maybe a gp or a paed?

There's no point having a diagnosis that is clearly wrong.

What are the outcomes?
She is wrong so they have to look for a different diagnosis

She is right and explains it all so you feel better about it.

Either way it works out in your favour.

And no you're not a geneticist but I'm guessing over the past 2 years you've become a bit of an expert.

slightlycrumpled Thu 14-Aug-08 19:27:14

emkana, I would phone or ask for an appointment to go over the diagnosis.

I have a friend whose DS has achondraplasia and I know she had a struggle getting an accurate diagnosis.

Good luck and no yanbu! (although there may be a better way of phrasing it grin )

tribpot Thu 14-Aug-08 19:28:09

em - first of all, ds is TWO? shock Where is the time going?

Second of all, can you call her and say you're surprised because you thought six fingers and/or toes was a defining characteristic, is the research you've read out of date?

Is it essential to ds' care that you know right now, i.e. could you maybe get him seen by a different geneticist in a few years' time and solve it that way, or do you need the answer now to ensure he gets the right treatment?

I've done a bit of Googling and you're right, it does seem to be absolutely the thing about the syndrome, it's mentioned in everything I've read so far. On that basis, it seems impossible the geneticist could not know this too, so maybe we're barking up the wrong tree but maybe diagnoses have been mixed up?

RubyRioja Thu 14-Aug-08 19:30:57

I would say that it is not uncommon for the patient (or parent) to become more expert than their doctor in some cases, as it is your consuming interest and a part of what they do, no matter how specialised they are.

You are the world's expert in your son.

However, I too, am capable of counting fingers and toes, and woudl speak to her about this grin

emkana Thu 14-Aug-08 19:31:06

In the letter I received they acknowledge that polydactily and heart disease are commonly found in EvC, but that ds must have a mild form because he does not have this. Still odd though.

According to the very knowledgeable mother I contacted another defining characteristic is that there is more than one connection of the inside of the top lip to the gum (multiple frenulae), ds also doesn't have this.

slightlycrumpled Thu 14-Aug-08 19:35:57

emkana, my ds has a genetic disorder and I can't help thinking that it's a bit off of them to just send you a letter.

We were given our diagnosis over the telephone to start with, and then an appointment the next day. This enabled us to get some questions together for her.

I also believe as said below you are the expert in your child, I hope you get some answers soon.

megcleary Thu 14-Aug-08 19:36:13

It's very easy for letters to get mistyped , filed etc just question it.

in this situation i alwys find playing dumb the best way to go and all apologetic, subserviant but still egtting my point ascoss so no one feels threatened.

tribpot Thu 14-Aug-08 19:37:27

That does seem bizarre, that they've decided it must be EvC despite him lacking what appear to be key characteristics of the syndrome "so it must be mild" (rather than something else entirely). It's like a key characteristic of a broken leg is a broken leg bone but if your leg hurts but no bone is broken then you must have a 'mild case' of broken leg.

twoboots Thu 14-Aug-08 19:37:59

i have dug out my old genetics textbook and it states evc is the occurance of chondrodystrophic dwarfism, nail dysplasia, and polydactyly (fingers or toes). In addition there may be teeth abnormalities, and sparse, brittle hair.
The major cardiovascular manifestations associated with this syndrome are a single atrium or atrial septal defect.
this may be a dumb question but does it make a difference to your or your little ones life not to have a specific diagnosis.

emkana Thu 14-Aug-08 19:41:03

It doesn't really make a difference to his treatment, but it changes the prognosis, and in my weak moments I would like to see into the future. smile

RubyRioja Thu 14-Aug-08 19:41:29

Now we are frantically googling - do you think they could be based on the small rib cage characteristic?

RubyRioja Thu 14-Aug-08 19:42:21

Sorry if being stupid - I just remember your posts on ds's breathing and chest previously.

RR goes off to bark up wrong tree grin

emkana Thu 14-Aug-08 19:43:53

I think that's where they are coming from, yes. To look at ds obviously has a small ribcage, which is why the scary Jeune syndrome was originally discussed, but had now been ruled out. But I know from my research that even children with hypochondroplasia can appear to look as if they have a small ribcage, and the x-rays show no thorax abnormalities of significance, so I don't know why they are so hung up on this.

emkana Thu 14-Aug-08 19:44:27

RR no no not stupid at all very valid point actually

tiggerlovestobounce Thu 14-Aug-08 19:48:36

Will the blood test be diagnostic? If it is then you should at least be able to feel confident about the results of it.
Dont be afraid to question your geneticist about reasons for suggesting this diagnosis, and why they think the missing features arent important.
I think they would rather that you asked these questions so that they could give you the answers, rather than leaving you uncertain.

Saggarmakersbottomknocker Thu 14-Aug-08 19:50:48

Oh Em - sorry you still have questions about Seb. I'm assuming Angus's mum is the mum you're in touch with - she is very knowledgeable, and it does seem a bit odd that he doesn't have the major defining characteristics. I don't think there's any harm in calling the genticist for a chat.

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