Usher syndrome type 2

[calamityboo]

Hi my ds is 14 and just diagnosed with type 2 usher syndrome, this means that eventually he will go blind but the when and by how much is unknown, he also has a language disorder and though he seems to understand a lot of things, he fnds it difficult to process information. He knows that he needs his glasses and hearing aids, he is also aware that unlike other children he cannot see at night or in dim light (due to the Retinitus Pigmentosa), i have had to tell him that eventually his eyes might get a bit worse as he saw me get upset at the appointment when the RP was confirmed, how much would you say?? also would you register him partially sighted? there is a small chance he will be able to drive if his sight does not change - am i clinging to straws here?? Have not met or spoken to any one else living with this disorder, or anything like it, i have read articles on the internt but the case studies on there vary so much, i end up upsetting myself all over again. In the mind set at the moment that it will not happen, my boy will not go blind, they will have found a way round it soon enough, avidly follow an lead in genetic/stem cell research that may help.

A bit lost really

meant to add, put it in this thread as his doctor has asked CAMHs to speak to him to help with self esteem and confidence issues and not sure if it will affect him to know about his sight.

Poor love. I have met children with usher syndrome when I used to work at a special school. It is pretty grim and undestandable that your son is very low. Many people with ushers lose both their hearing and their sight eventually.

Is your son in special ed? Prehaps computers will help his communication in the future. There have been advances to help, like blind people being able to see with their tongue.

abcnews.go.com/Primetime/story?id=2401551&page=1

I suppose its hard to know how much your son understands if he has speech and language problems. I hope CAMHs can help him, but life is really cruel.

Hello Calamity - just seen your post and felt I had to reply. I have Usher type 2 - I'm 41 and was diagnosed at age 13, so similar to your DS. I understand how distressed you must feel right now - I know my mother was devastated at the time of my diagnosis.

I am in the middle of working right now so can't write too much, but I wanted to say, don't feel like this is the end of the world. Despite the Usher's, I have a very satisfying life (good degree, interesting work, married, three kids etc. etc.) There are lots of difficulties associated with Ushers but they are not insurmountable.

Have you contacted Sense or BRPS? I would definitely get in touch with Sense (you can find their website online) - they are a charity specifically for people with dual sensory loss, and I believe they have some good counselling / information available.

There is a large amount of research going on at the moment, and I personally think that there is a good chance that some form of treatment will be available at some point for your son.

reallytired - I have not heard of people with Usher2 completely losing their hearing. My hearing loss has been stable my whole life, and my understanding from specialists is that is normal. People with Usher type 1 have a more profound hearing loss from birth, but again that is normally stable.

I don't have personal experience with language or information-processing disorders which I completely understand complicates things for you and your son. But Sense are likely to have experience with this.

My personal advice, for what it is worth, is to not hide things from your son, but not to go overboard with explanations either. I knew that I might/would go blind from the time of my diagnosis (the doctor told my mother within my earshot) but it didn't feel particularly meaningful to me then. And, really, with Usher 2, the timescale of the progressive sight loss is so long that there is no point in getting too worried about that straight away.

Please do get in touch with Sense, if you haven't already. They can be enormously helpful.

If there's anything else you want to ask about Usher 2, then fire away, I will be happy to tell you anything from my own experience.

my dd3 (5) has a different genetic syndrome but has a dual sensory impairment (amongst other things), I would definitely second getting in touch with sense they have a section on ushers on their site so worth a look, good chance you could meet others through there as they do family events.

if he falls within the criteria for being registered sight impaired then I would, we have with dd3. This has registered her with the local hearing and vision services part of social services so we can access their support and equipment as and when we need it, I'm sure you could contact them any way but this saved all the hassle of having to refer ourselves and then providing all the proof etc. They've also issued her a card that says she's sight impaired, it's come in handy a few times.

hope camhs works out well for him.

Yes, I second ninjagoose re: registering as visually impaired. I was registered age 18, and have never found there to be any drawbacks to being registered. Now that I am registered 'severely visually impaired' there are some helpful things which I qualify for (like a blue badge).

Hi Ninja and Usher2, i am so pleased to hear from you, i will look into registering him, and have a look at the sense website, i have always known he had his hearing issue, and as you said usher2, it has been stable all his life, so we thought we had dealt with his issues, it came as a shock when he said he couldnt see in the dark and the follow up from that was the diagnosis. When we first told family and close friends and are now talking about it to others we know, we are always met with the same blank look and a neve heard of it response, we were starting to feel a bit alone. we have a lovely new orhoptic doctor at the childrens hospital who works with the genetic team as well and she seemed to be the only person who i could speak to but i have not been given and info about sense. I would like to ask Usher2 a few questions, i will e-mail privatly as soon as i work out how it works if that is ok?? Just to let you know now though, it is amazing that you have contacted as i wasnt even sure when i posted that anyone would have heard of it, never mind someone with Ushers getting in touch so quickly, a million thank yous.

calamity, no ones ever heard of dd3's syndrome either Does your ds get any extra help at school? Sense are good at providing info on what help you can get in school as well. If you want to message usher2, just along the line with her name on is 'message poster' just click on that, it's easy

Thank you ninja, i feel a bit stupid now, never noticed that! he has extra help at school as he attends mainstream school with H I unit, his SENCO works with him closely and he has a csw in 50% of classes, he has been statemented since he was 4 due to the hearing loss. His daytime sight is so far ok (touching wood as we type), he has glasses for long sightedness, but he sees fine as long as the sun is up - winter is a long season for us!! I will be having a good look at the sense website, thank you so much for putting me on to that, it has actually been quite emotional speaking to you and usher2, in a good way!

Just wanted you to know that I know a few Ushers children who I think are Type 1. They have had cochlear implants and now the hearing side is not an issue. From memory I think there is a specific yahoo group mainly US focused but many parents appear on the US cochlear implant group too. Not sure how helpful I am being .......

Thankyou hatchypom, more than you think, was feling like we were the only family in the uk with this! will have a look, might be able to set up some dialogue with them.

Good, we are members of the cics charity ( for deaf children but clearly there's some overlap) they may be able to put you in contact with other families but Sense I'm sure will be more suitable ( fab people too)

Hi calamityboo - got your email and have sent you a (long!) answer. You are far from alone, don't worry. Not sure what area you are in, but Sense have a local network and can put you in touch with other families.

Hi Calamity, I too have type 2 Usherand was diagnosed quite late in life at 45 (48 now) I have been to Sense and have met some wonderful volunteers who give excellent advice.
I have only just been told of this post by a friend of mine. I will message you some links which may be of use, there is one group on Facebook www.facebook.com/?ref=logo#!/groups/371009117557/ that is good they aim to help parents of children who have Usher.
Another is www.facebook.com/?ref=logo#!/groups/usherlife/ This is a group of people with Usher who have set up their own volunteer group as well.
If you have any questions please do come back to me.
I will say though that everybody's case is different and no two people will have the same condition. That said there are some very inspiring people out there who still live fantastic lives and show people the way forward. Hopefully you will meet these people over time and they give you hope.

Thank you biggit, and everyone who posted, it has been a shocking year for us, but we are slowly comig to terms with the diagnosis and what it means for our little man, we have had big chats about it (big to me, i think it went over his head a bit!) so he is now aware of usher and that his eyes will get worse as he gets older. He just said ok and got on with his day. More tests after xmas to look forward to, he will be having the electrodiagnostic done again early Jan, he deals with it all so well, i cant even put in normal eye drops we will certainly be looking for support from the reccomendations you made.

Thank you all and merry xmas