Stickler Syndrome

[Mouseface]

Hello.

I wanted to ask if anyone here has any experience of Stickler Syndrome?

DS is SN/LD, Pierre Robin sequence, along with a cleft palate.

His Consultant Paed wants his eyes tested for Stickler's as PR and a cleft presented together, can indicate that he has Sticklers.

We are waiting for the test (and have been for 5 months) and are not sure what to expect.

Any experience or advice please?

[TotalChaos]

Hello Mousey, I have neither experience or advice, but wonder if you have seen this website:-

www.stickler.org.uk/info.htm

So is there a specific eye test for sticklers (as distinct from any other visual problems...)

[Mouseface]

Hey TC.

Not sure re specific test, we have had no info at all yet. I'm told that the chap who does the test only tests for Stickler's.

I'll have a look at the website. Thank you.

[TotalChaos]

I was just a bit puzzled as to waiting so long for the eye test, but that explains it, that they want the expert guy to do it. but would have thought they could do a basic eye test v. quickly, as surely it would be useful to know i f there were any issues asap

[Mouseface]

This is the NHS. Some areas are outstanding, others not so great.

We can wait 6 days for some test, 6 months for others. I will mention it again next time we see his Paed in a few weeks.

As long as he gets seen, I'll be happy.

[TotalChaos]

whereas with DS, the eye and ear tests were OK, were within a couple of months of referral, everything else mind you was somewhat less great. was particularly irritated that my joint clinic appointment took over a year to come through - then my friend's DD saw the same community paed that did the joint clinic within 2 months for a physical issue (possible failure to thrive).

[RaggedRobin]

i've worked with children with stickler syndrome, and as with other syndromes, there can be a huge range of ability, needs, etc. some children are very, very able and others require more support.

i'm interested that there may be a specific test, as records for some children simply state "possible stickler syndrome".

sorry, not much help!

[Mouseface]

Thanks anyway RR

[TotalChaos]

special kids in the UK forum might be helpful (but it's not all free unfortunately any more). or contact a family?

[notprepared]

Only just joined mumsnet and thought it would be worth checking for Sticklers experiences.

I'm a mum with 2 girls with Sticklers - lucky to be getting great care (eye checks, hearing checks and cleft palate surgery + after care) and no major impact on day to day life for them or us now (although first months for our daughter with a cleft palate were a bit of a challenge).

Our 1st daughter was diagnosed early and so it prepared us for the 50/50 chance of our 2nd child having it.

Happy to post more info / experiences if anyone has questions

[Alg08]

@notprepared are you still on here to post about your experiences with your children having sticklers pl? I have two year olds twins who likely have it and am shellshocked

[Chewbecca]

@Alg08 - hi, don’t know if you’re still around but my son and I have recently been diagnosed with Sticklers.

Hope you and your twins are doing ok.