Forums
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1 year, 2 months ago by SWAN UK |
Hi I’m Lauren, I work for Genetic Alliance UK running the SWAN UK project. SWAN stands for ‘Syndromes Without A Name.’ We offer information and support to families of children with undiagnosed genetic conditions. I’m here to help with any questions you might have about the issues you face when your child has a suspected genetic syndrome but the Doctors haven’t been able to tell you what it is. I can put you in contact with other families in a similar situation, help with information about how to get a referral to see a geneticist or about research studies that your child might have been invited to take part in. I look forward to talking to you! |
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1 year, 2 months ago by Karen in Wales |
My son is 9 and has been seen by a geneticist: he does not have a diagnosis, but more a description (severe learning disabilities with autistic features). The geneticist has established that there is no physical marker to indicate a specific syndrome and has asked that the next time he has a surgical procedure done that blood should be taken to do an array of genetic testing on (he's already had the usual ones). So in that sense I feel I am as well on top of things as can be expected. The geneticist has said that his condition is probably genetic in origin, presumably as there is no other indication that it isn't. My problem comes with the lack of a diagnosis, and my own feeling that so far his assessments have not done much other than to rule out ASD (but he is very 'autistic' in his behaviour--he does not speak or communicate but is quite clever on the computer for example). I am concerned with the practical implications of not having a diagnosis, or having a vague one that doesn't really cover it. His paeditrician and I have discussed having a fuller assessment in the medium-longer term (he is changing quite a bit now so I don't mind waiting, and my concerns are mainly about the future not the present as he is so well looked after and supported at school). I find it difficult to not have a diagnosis--it is isolating and confusing, and I'm not sure what to expect in the longer term. The paediatrician isn't really able to suggest where I might find further reading, and most things I read about learning disabilites don't really describe him (autistic ones do, but as I say the paediatric neurologist has ruled him out of the Autism spectrum as he is so clever at socialising. Which he is!). What sorts of supports are there for people who do not have (will never have?) a diagnosis? |
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1 year, 2 months ago by Valix1 |
It sounds like you have just described my daughter in some aspects. She has learning difficulties too with no speech. She was born with a bi-lateral cleft lip and palate and to get any sort of blood, well, like getting blood out of a stone. Her veins are so small they have to use neo natal needles! She has been labelled with SWAN. Very difficult to described to those who are not medical professionals! I just wanted to say I feel exactly the same and it is very difficult. My daughter just had an ICT Assesment at school today and have told us that they do not supply a touch screen laptop to help with speech, choice making and learning etc at home. they can supply a touch screen monitor to the school on a loan basis, but should I wish to help and encourage her at home, during the holidays or weekends, as she needs this input during her time off or she will and has proved in the past reluctant to restart when the schools go back! the answer is no. Touch screen laptops are expensive approx £600+. Does anybody know of any charities that might be able to part fund? Really stuck! |
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1 year, 2 months ago by Netbuddy team :-) |
Valix1 - it would be good if you started a new thread in the main netbuddy forum. Sure you will get lots more advice there about funding for touch screen. Lots more people will see it and be able to help. Thanks! |
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1 year, 2 months ago by SWAN UK |
Hi both, thanks for your messages. The situations you describe sound very similar to those of many of the members of SWAN UK, it can be really difficult not having the right 'label'. In terms of accessing support, it shouldn't make any difference whether you have a diagnosis or not - assessments for support should be based on your child's needs although in reality it is often more difficult to get through the first stages without a simple way to describe your child's difficulties. Some families have found it helpful to get their consultant to write a letter outlining their child's difficulties that they can then use to confirm their needs. In terms of more general support, the project I work for (SWAN UK) is specifically for parents of children with undiagnosed conditions. We have a growing community of families who support each other through the various issues raised by having an undiagnosed child - as you both know it's really hard when you have no sense of what the future might hold. Lots of our members find that it can be really helpful / comforting to be able to talk to others in the same situation. Although all the children are different it can be helpful to talk to parents of older undiagnosed children and seeing everything that they are achieving. If you are interested in joining you can find our Facebook group here https://www.facebook.com/groups/205554229483224/, I know you would be very welcome! Many of our members also contribute to our blog (or write their own) you might find helpful to read other families stories - it's surprising how often we get families discovering how similar their children are and then being able to share tips and ideas. www.swanuk.wordpress.com. |
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1 year, 2 months ago by SWAN UK |
@Valix1 Have you tried the family fund? http://www.familyfund.org.uk/ |
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1 year, 2 months ago by Karen in Wales |
Lauren, thanks very much! I should stress that we're as well supported as possible at the moment: the primary school is wonderful and we have regular meetings with various experts including one advising us on electronic communication aids (which don't at the moment work very well with my son as he persists in thinking they are computers and should give him access to Cbeebies games etc). I'm more looking to the future, as well as needing to understand as much as possible about my son, so that I can help the people who have dealings with him (especially doctors etc) really understand what to expect from him and how to help him when he is almost completely uncommunicative. I've sent a request to join the facebook group--it would be very nice to hear about others' experiences and just to share, |
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1 year, 2 months ago by natashailg |
even if you get agenetic diagnosis it is important to get certain lables for education etc.
so for example, ask for the ADOS autism diagnostic observation schedule to be done to rule in or out an autism diagnosis. (great test, no speech required!) also you can get comorbid diagnosies -so some children with down syndome may also get ASD diagnosis thru correct ASD diagnostic tools. genetic diagnosis is useful but there is always a range of ability and you still need to go by the child's individual abilities/strengths/weaknesses . not jsut put it all down to "oh he has that diagnosis". it is important to recognize strengths eg computers and use them for communication and learning |
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1 year, 2 months ago by natashailg |
ps karen my son at school has an ipad which ONLY has access to his communication software so no chance of him accessing cbeebies or youtube on it - he has to request and then gets time on school desk top. behavioural approach. but at home he does use his ipad for leisure and communication . |
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1 year, 2 months ago by Karen in Wales |
Natashailg: that's very very interesting... we had an autism 'assessment' which was an hour-long question and answer session with a paediatric neurologist and the conclusion was that my son showed autistic features but should not be placed on the spectrum, even as wide as the spectrum is. I don't agree and I am pursuing a more thorough diagnosis although from the look of the ADOS test he just wouldn't do any of the required tasks even a bit, My interest is purely practical in that I need to access services in the future, and autism strategies fit him best. His frustration with the electonic communication device was that it looked like a computer (and it did!) but would not do what he expected it to do, and he could not accept that while it looked like a computer it wasn't for the same purpose. So now we;'re trying various ones that don't look like computers (but aren't as sophisticated). Overall he isn't very impressed and my own feeling is that signing will work better. But we're giving everything a chance. He's supposed to have emergency dental surgery next week (if his cough goes away) and then we will have an opportunity to take blood (can't do it except under sedation) for array CGH test by the genetics service. But I'm very interested to hear about the implications for your son with and without the genetic diagnosis. It certainly gives me a lot to think about in terms of where I go next. |
