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Medical Mystery: possible syndrome disorder

(37 Posts)
toomuchchristmaspudding Sat 08-Dec-12 08:51:55

I am posting this for my sister. Her daughter has had problems since birth and it has been suggested many times that she has some kind of syndrome. Almost every doctor that has seen her has suggested at first glance that she has Turners Syndrome due to her unusual facial features, but it’s not that as she has been tested. DSis struggles to cope with her as her behavioural problems are quite severe and she has sought help from SS in the past. Unfortunately, the SW very unhelpfully told DNiece that she looked like that because her mummy drank too much alcohol when she was pregnant! I can assure you, that is not the case.

It is incredibly frustrating as nobody knows what is wrong with her. One doctor told us that these syndromes are often diagnosed by chance, so it gave me the idea to post on here to see if anybody else can put this puzzle together or recognise the symptoms. DSis knows I am posting. Would really appreciate your help. These are some of her symptoms that the doctors have noticed:

Hyperteleorism
Telecanthus
Broad nasal bridge
Smooth philtrum
Tooth enamel defects
Short neck
Widely spaced nipples
Elbow abnormality
Ambiguous genitalia
Hernias
Short stature
Learning Difficulties (very low IQ)
Behavioural problems (constant headbanging, rocking, etc.)

Thanks for reading. Would appreciate any suggestions for what it might be. By the way, I am a regular, not to protect my anonymity, but my sister’s. Thanks.

Elibean Sat 08-Dec-12 09:02:56

It must be so frustrating not to have a 'diagnosis' as such sad

I don't know the answer, but I have a good friend whose dd was in a similar boat, so to speak - lots of characteristics of a 'syndrome' but no clear cut diagnosis. My friend had lots of genetic testing done when she was pregnant, and it all came back normal - yet her dd has learning difficulties, difficulties with walking and speech, and some facial characteristics of various syndromes (which she has tested negative for).

All I can tell you is that they never got an answer, but moved on to simply getting their dd the best help possible - I think the hardest part was not having a self-help organization they could turn to straight away, but having to find their own path iyswim.

I wish your sister and her LO all the best, and hope you get some answers - even if they're not the ones you're hoping for.

bishboschone Sat 08-Dec-12 09:03:32

She needs to get a referal to see a paediatrician .

toomuchchristmaspudding Sat 08-Dec-12 09:04:25

Thanks Elibean.

bishboschone Sat 08-Dec-12 09:05:36

Sorry I think maybe he has seen one. I just saw the bit about the social worker .

toomuchchristmaspudding Sat 08-Dec-12 09:05:56

She has, bishboschone. They have all but given up on her. And as it is not life threatening, they have told DSis to just live with it, but unless she gets a diagnosis she can't get the help she needs.

a paediatrician may be the first port of call for a referral to a geneticist. but even then they dont always confirm an actual syndrome.

bishboschone Sat 08-Dec-12 09:06:52

Has she seen a geneticist?

bishboschone Sat 08-Dec-12 09:07:28

Sorry cross posts . We are in the middle of this and it's hugely distressing .sad

toomuchchristmaspudding Sat 08-Dec-12 09:07:37

She saw an endocrinologist and a geneticist at Great Ormond Street. Neither were able to identify what was wrong with her. Although they tested her chromosomes to confirm that she was female, as they were not sure.

FanjoTimeMammariesAndWine Sat 08-Dec-12 09:07:59

Has she had a chromosomal microarray done? Can show tiny deletions chromosomes, which cause syndrome like symptoms which might not necessarily have a name.

FanjoTimeMammariesAndWine Sat 08-Dec-12 09:08:38

It is just where they look at individual chromosomes in much greater detail...

have her parents been tested? even without a diagnosis he still has problems which I wouldhave thought would help with getting support

toomuchchristmaspudding Sat 08-Dec-12 09:09:49

She did, Fanjo. They couldn't find anything wrong, although the geneticist said that the tests are getting better all the time and she would probably get a diagnosis "at some point in the future". That doesn't help her now, though.

sorry, she.

she shoudl still get help with her learnign diffiuclties and bheavoural difficulites at school.

FanjoTimeMammariesAndWine Sat 08-Dec-12 09:11:16

SWAN (syndromes without a name) may be able to help

swanuk.wordpress.com/

But help should be based on issues/care needs not diagnosis.

toomuchchristmaspudding Sat 08-Dec-12 09:11:35

slartybartfast, they can't get help. It has been suggested that DSis is the cause of all the problems, that the headbanging, etc. is because she is not looking after her properly. Honestly, that's not the case.

bishboschone Sat 08-Dec-12 09:13:49

How old is her dd? How awful for her not to get an answer .

what does the school say?

so are they giving her help in looking after her dd properly? parenting support?

toomuchchristmaspudding Sat 08-Dec-12 09:20:42

The school are not very helpful, tbh. They reluctantly started the statementing process, but warned it could take years. We met her drama teacher by chance when we were in town once, and he was shocked to hear us all speaking, as he had assumed that DNiece was foreign and couldn't speak English! He had taught her for 2 terms.

toomuchchristmaspudding Sat 08-Dec-12 09:21:45

No, nothing. But tbh DSis was scared off by the thing the SW said about Fetal Alcohol Syndrome.

ime foetal alcohol syndrome is rarely diagnosed. and it was the social worker who told her this? how wicked . does your sis think she has fas?

CouthyMowEatingBraiiiiinz Sat 08-Dec-12 09:25:15

I had similar issues with DD and DS2, but when I saw a geneticist, back in 2005, they refused to do genetic testing.

Now that DS3 has the same issues too, they have done Microarray testing and we are waiting for the results.

They blamed me for drinking too much too, with DD, despite the fact that I was teetotal from 5 weeks pregnant! And then they told me that I wasn't looking after her properly because I was so young...

Now that I am in my thirties and my third DC is having the same issues, they are finally taking my claims of a genetic issue seriously.

My Dbro, My mother and my maternal Uncle are all also affected, and nobody would listen to me or connect the cases before.

SWAN have been very helpful to my mother in the past.

That's given me a nudge to contact them myself tbh!

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