Medical Mystery: possible syndrome disorder

[toomuchchristmaspudding]

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.

[toomuchchristmaspudding]

Thanks. CMEB, DNiece also has hearing and bowel problems. I think a lot of these syndromes share symptoms.

[Onetwothreeoops]

Have you had a look at this organisations website:

Child Growth Foundation

They might be able to help. I picked up their leaflet at the hospital on one of DDs visits to the endocrinologist.

[CouthyMowEatingBraiiiiinz]

My DS1's issues

Autistic Traits (Not assessed YET, but is in the pipeline)
Hypertelorism
Hypermobility (again likely to be reclassified as Ehlers-Danloss syndrome next week)
Partial deafness
Bowel issues

[CouthyMowEatingBraiiiiinz]

My DD's issues

Symptoms likely to be from 16p11.2 syndrome:

Autistic traits (no full assessment YET, but in the pipeline)
Partial deafness
Hypermobility (likely to be reclassified as Ehlers-Danlos syndrome next week...)

Symptoms that could be from either syndrome:

Cardiac issues - Two leaky heart valves
Hypotonia
Hypertelorism
Hyperactivity

Symptoms likely to be from Cri-du-chat syndrome :

She had the cat-like cry until about 3/4yo
Speech and Language delay
Microcephaly
Learning difficulties
GDD (Global Development Delay)

[CouthyMowEatingBraiiiiinz]

Because originally with my DD and DS2, all they had done were tests to rule out fragile X and a couple of other genetic issues, without them looking in depth at every chromosome for deletions, duplications, micro deletions, translocation a and ring chromosomes.

Microarray testing is far more in depth than the 'basic' genetic tests the NHS usually does at first.

[CouthyMowEatingBraiiiiinz]

Did the NHS do 'basic' genetic testing or full Microarray testing?

[CouthyMowEatingBraiiiiinz]

I think at least I'm closer to answers now than your Dsis is. It's taken me almost 15 years though, and my Dbro is nearly 22 and my Mother has been trying to get answers all HIS life too!

So it's taken my wider family over 20 years, and the third affected generation, before we are getting closer to some answers.

And my poor Ex's, DD's dad and DS2 & DS3's dad, are getting answers at 32 and 37 respectively! As they both have symptoms of syndromes and attended SN schools themselves. DD's father in particular is waiting for answers because his two DS's with his new wife also have symptoms of cri-du-chat syndrome, but the NHS is currently refusing to test them. As they want a definitive answer from DD's test first.

Which won't be for up to a year, as first I have to wait for DS3's Microarray test results, then they will do Microarray tests on my DD, and only THEN will the NHS test DD's father and his other two DC's!!

It takes a bloody long time to get the answers IMO and IME.

[CouthyMowEatingBraiiiiinz]

Some the same, some different. They are looking for microdeletions or duplications on chromosomes.

The issues they have are quite specific too, but they think my DD has got one chromosomal issue from me, AND one from her dad, that DS1 'only' has the issue from me and nothing from his dad, AND that DS2 and DS3 have the chromosomal issue from me as well as a chromosomal issue from their dad.

So they are all affected slightly differently, though DS2 & DS3 are presenting in exactly the same way, probably due to the fact that they have the same dad, where DD has a different father to them, and DS1 has a different father again. (4 DC's, 3 dad's. I know, I know, that's not great to admit on here!)

DD they think has an issue on Chromosome 16 (16p11.2 syndrome) from me, and an issue on Chromosome 5 issue causing something called cri-du-chat syndrome from her dad.

DS1 they think 'only' has the issue on Chromosome 16 (16p11.2 syndrome).

DS2 & DS3 they think have the Chromosome 16 issue (16p11.2 syndrome) from me, and an issue on Chromosome 7 (Smith-Magenis syndrome) from their dad.

I really should have insisted on Microarray testing on myself AND any prospective fathers before having DC's!!

[toomuchchristmaspudding]

CouthyMowEatingBraiiiiinz, sorry you are going through this also. Do your kids have any of the same symptoms? Sorry to pry, feel free to ignore.

[CouthyMowEatingBraiiiiinz]

Help is certainly based on diagnosis in Essex at least...

I've been fighting for nearly 15 years to get my DD and DS2 help, but I hit brick walls repeatedly without a diagnosis.

Not all areas offer help based on need...

[toomuchchristmaspudding]

No, she definitely doesn't. After the SW said that, I Googled the symptoms and there are some similarities. I did begin to question it, although my sister very seldom drinks. I don't remember her drinking at all in her pregnancy. Not only that, but she has seen so many doctors, one of them would have picked it up.

[CouthyMowEatingBraiiiiinz]

That should say third DC of four...

[CouthyMowEatingBraiiiiinz]

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!

[slartybartfast]

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?

[toomuchchristmaspudding]

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

[toomuchchristmaspudding]

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.

[slartybartfast]

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

[slartybartfast]

what does the school say?

[bishboschone]

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

[toomuchchristmaspudding]

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.

[FanjoTimeMammariesAndWine]

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

swanuk.wordpress.com/

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

[slartybartfast]

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

[slartybartfast]

sorry, she.

[toomuchchristmaspudding]

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.

[slartybartfast]

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