Hi all you knowledgable people in LASAland, and further afield.

Have a referral - mother and 5 year old son; son has Stickler syndrome, which - according to the internet - is a "genetic progressive condition that effects the body's collagen". Consequences vary in different sufferers, but with my young chap it presents primarily in:
* detached retina(s) and myopia. He has already undergone ophthalmic surgery and is scheduled for more soon;
* glue ear and requires regular hearing tests, as common for this to deteriorate;
* stiffness in joints, as collagen is crucial part of our cartiledge and stuff. I'm not a doctor, so am allowed to call it "stuff!";

He also is very nervous of dark, of heights and requires - in my opinion - significantly more attention, supervision and assistance than a non-affected 5 year old. Refuses to sleep alone, sleeps with mum. Cannot dress himself - fasteners present problems, nor cope with bathing, etc. The DBC have declined any DLA.
Anyone got any experiences of specifically Stickler syndrome, if possible?

Soothing words and platitudes also appreciated, even from well-meaning DM's. We know you read this!!

There be a welcome in the hillside for any advice!!
Splott Paul

No direct experience of Stickler syndrome but, from what you say it certainly sounds to me that he qualifies for DLA.

Were DBU aware of all the facts? You know, who filled in the form, which Dr. did they get info from etc etc?

I'm sure you've covered all this already - sounds like a straight forward appeal which may (just may) be reconsidered by the DM. Surprisingly we've had a couple of them just lately - reconsiderations that is!

Good luck!

Thanks Bensup -
the mum filled in the application - so possible that best case not made. Possibly, naively, believed that they'd ask if they didn't know - instead of just saying "No!"

Am awaiting reports - but seems no specialist, and there are two I am aware of now - op' surgeon and optician, was consulted by DBC. No indication of EMP either, so possibly only cursory note from harrassed GP? Ignorance is bliss - eh!!?

I'm one of those annoying types, who isn't content to "win" but wants to win well!

In a previous existance as a biochemist some years ago I remember we had a patient with this which then led to a family with the same condition but each exhibiting a different range of symptoms.

The client was younger than yours and had eye problems ( I believed detatched retinas are common) but also had a cleft palate defect which changed the shape of his mouth and made it hard for him to feed as a result he was very dependant on his mother. He presented as failure to thrive which meant he was very low weight for his age.
I believe the palate/mouth problems are also very common.

It may be worth asking your clients mother if her son has any weight/feeding/mouth problems

At the risk of making a general statement some children do tend to need their mother/carer even more when they have had a slow start particularly with 'failure to thrive'.

I also was led to believe that it often runs in families so she may have underestimated his needs in relation to the 'normal child' if other children in the family have had the same problem.
Their used to be a support group that covered this if you feel like an internet search