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Help - DS possibly diagnosed with Ectodermal Dysplasia - am terrified and lost . .

(12 Posts)
MumofJTM Thu 23-Jul-09 12:59:41

My nearly 2 year old DS has been referred to a geneticist as the paed consultant thinks he has Ectodermal Dysplasia. Have made classic mistake of Googling it and now I'm terrified. the diagnosis was based on very bizare slow growing teeth (only has 2 teeth and are pointy teeth not in normal place) eczema and very fine blond wispy hair. Fits with symptom of ED website, along with other things that sound like my LO as well.

Am completetely lost and confused and would love to hear from anyone with any experience of this kind of thing.

Any ideas anyone?

LightShinesInTheDarkness Thu 23-Jul-09 13:43:40

I am sorry you are so distressed.

Bumping for you, hopefully a MNer with some direct experience of this condition will help you.

Elibean Thu 23-Jul-09 16:21:03

Also bumping for you, hope someone can help.

MumofJTM Thu 23-Jul-09 19:11:19

Thanks for bumps, fellow MNs. Clearly bumping myself here - bad etiquette perhaps?!

Would love to hear that this is not all doom and gloom . . .

madwomanintheattic Thu 23-Jul-09 19:25:56

i think you would be better off registering as a member of the ectodermal dysplasia society's website and reading their real life stories and getting in touch with parents via that route?

it seems the main issues are largely cosmetic (and as a parent of a dd with a few 'cosmetic' issues i know how difficult that is to deal with) with the exception of possible difficulties controlling body temp (the same dd has issues controlling body temp), which means extra vigilance on that score as potential for febrile convulsions etc?

i'm not an expert (just had a look on google like you smile), but thought i would bump for you anyway grin

only natural to be worried - the genetics testing can take up to a year tbh, bit of a postcode lottery.

sending you strength whilst you get your head round it.

madwomanintheattic Thu 23-Jul-09 19:26:48

have you tried 'contact a family'? btw - not sure if ED is on their list, but it might be...

Elibean Thu 23-Jul-09 22:02:45

madwoman speaks sense...have found with most difficult life things it helps to talk to others who've been dealing with similar for longer.

I have read one thing on MN several times, when LOs have been diagnosed with having something hard to get heads around: no matter what the doctors tell you, and what it means in the future, remember your ds is still your ds, the same one you've known for two years and loved for two years, and vice versa. Hold on to that, because your relationship with him is beyond diagnoses, conditions, genetics or anything else.

Not to minimize anything (I know v v little) but just seemed to me a good bit of advice when feeling lost after a possible diagnosis of something long term...

Hope you get some info, lots of support, and reassurance, soon.

MumofJTM Fri 24-Jul-09 20:08:28

Thanks for messages everyone - loving the support and care.

How do I contact a family? Is that a MN thing? fairly new to MN so not discovered that one yet!

Once diagnosis is confirmed, will definitely join up with ED society of similar.

Love the advice, and thanks for it, Elibean - what everyone has been telling me anyway.

Feeling a bit more positive today, so making progress on that front at least . . .

Thanks and love to all for their support xx

lou031205 Fri 24-Jul-09 20:10:57

Contact a Family is a charity. www.cafamily.org.uk/

blahdiblahblah Fri 24-Jul-09 20:17:32

Hi,
I was diagnosed with possible Ectodermal Dysplacia last year - and I am 36!
It can be very mild, and I am no freak.
It was diagnosed as I showed my dentist my son's teeth (we think he has it too) in order to demonstrate what mine used to be like.
I had very gappy teeth and was missing several teeth.
Sadly my case was handled very badly and I lost further teeth due to it, but I have caps and bridges now, and although I hate my teeth I doubt anyone else thinks too badly of them .
My understanding of it is that the whole "outer layer" of your body is affected. I get very dry skin, have dry and fine hair, very dry and ridged fingernails, etc
I would be lying to you if I said it was no problem, however, it is seriously very minor - more of an inconvenience and it in no way shortens life expectancy.
There are varying degrees of it, but as someone mentioned it is mostly cosmetic. My DS (and perhaps yours) will have several years of braces and cosmetic dentistry but I am comfortable knowing that they will handle it well and when he is an adult he will have perfect looking teeth. And he is now, and always will be gorgeous.
I hope this helps in some way?
All the best

MumofJTM Fri 24-Jul-09 20:20:24

thanks for info lou031205 - will certainly have a look.

thanks too for your message, Blah - glad to hear reassurance from someone on the front line!

I'm sure it will be fine, and DS will always be gorgeous, that;s what I keep telling myself!

blahdiblahblah Fri 24-Jul-09 20:24:41

I know how you are feeling though, when I found out I was shocked and upset. It takes some getting used to, but once you have digested it a bit more it is OK. Could be a LOT worse!

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