Advice needed please

[Ann Owens]

Hello everyone,
I am new to the forum here & am writing on behalf of my daughter, Penny.
Penny has a rare chromosmal condition known as Extra Partial Trisomy9p. We have never met any other families with the same diagnosis but have "met" others from the USA & Australia via the internet. Keratoconus doesn't seem to be typical.

We desperately need help please if anyone has any ideas. Penny has keratoconus & had a graft to 1 eye when she was 14 (she is now 23).The KC in the right eye is advanced but I have been delaying having her put on the waiting list as it is such a drastic procedure.
Penny attends the Royal Eye Hospital in Manchester which I believe gives the best care in this region.

Last week we attended her routine appointment & I got a huge shock when tests showed that she couldn't focus her eyes so could not achieve any scores at all when trying to read letters. Penny has severe learning difficulties but is on outgoing, feisty character who would lead quite an independent life if she didn't have the added "bonus" of her visual difficulties. Her previous appointment was in August when there was a slight deterioration in her vision, but now, come November.....

Penny now needs electo-diagnosis & I have just learned that the wait for this is up to 4 months in this area! Can we go elsewhere? Can this be done privately & if so, what is the cost? What could all this mean for her?

I feel so guilty because she has consistently complained of pain (but she always does) & I didn't realise what was happening-even when she was constantly asking me to clean her glasses. Also, she had been complaining of feeling tired all the time & taking herself off to bed. Again,it should have rung alarm bells.


We're both very low at the moment-I'm not getting any sleep & it's going to be incredibly difficult to keep Penny motivated. Already she has had several "temper tantrums" as she is frightened & given that she is taller than me & a stone or more heavier I can see the months ahead being unbelievably difficult (aggression is typical of Trisomy9). I have been knocked off my feet several times in the past.

Sorry to offload like this, especially in a first post, but I'm a single parent of 4 (Dad decided he couldn't cope with a special needs child). Penny is the 3rd child & the eldest 2 have homes of their own now.

I would be grateful to hear anyone's ideas/advice,

If you've reached this far in the post-thanks for your patience,

Ann & Penny

[GarethB]

Hi Anne,

Personally I would go through with the second graft, I have had two, but must admit I do not have learning difficulties so can not appreciate what it is like for you and your daughter.

There are people here who have children with Downs syndrome that use lenses who might offer advice.

As far as alarm bells go, hindsight is wonderful! I complained to my wife of dirty glasses, getting tierd and irritable and we thought is was work. It was my old cornea going KC again (extremely rare for someone who has had grafts). Now have lenses and jugling one at time so I can see long enough to get to work and back has turned my life upside down and I did have 3 months off due to the stress/depression I felt.

Hang in there, I have only given one suggestion, others here will likely give further advice specific to your request.

Regards

Gareth

[Dave Dale]

Hi Ann, and welcome to the forum..hope it can be of some help?

Did the consultant say what electro tests exactly? Just that I have been having simliar problems with my left, ungrafted but heavily KC'd for a year now. Most consultants I spoke to refused to do anything other than dliate my pupils.

I have a 'numb' aching pain around my eye socket and the vision has worsend over the past year quite a quick way. Anyway, I also have some field of vision issues but the humphys field of vison test that I did yesterday at Sunderland came out 'normal'..whatever that is!

Anyway, I am being sent for an ERG scan 'soon'? Waiting for the appointment so dont know how long mine will be but will let you know when it arrives, then if it is alot sooner you may consider Sunderland Eye infirmary?

Good luck....

Dave.

[John Smith]

Hello Ann (and Penny),

Most procedures can be done privately, and costs can vary. If you do want to examine that route, you'd first need a referral from your GP for an initial consultation - that would cost in the order of £100 I would think.

Alternatively, you could always try phoning a local private hospital - they are usually very helpful, and if you already know what procedure would be required, they would probably give you a good idea of the cost. Numbers can be found at http://www.bupa.co.uk

Remember also though that if Penny can cope with a Scleral contact lens (you may have to help her insert and remove it), her vision could be much improved without the need for a graft.

Best of luck, and let us know how you get on.

[Ann Owens]

Hello everyone & thanks very much to Dave Dale, Gareth B & John for their replies.

I'm sorry that I haven't replied before now but I did look in later the same day & was able to tell Penny about the replies.

As it happened, approx 3hrs after I posted we got a call from the Consultant's secretary-she explained that she had been off sick & was that day going to chase Penny's apointment as Mr B (her Consultant) had emphasised that it was urgent. So far, we have had a number of telephone conversations but no appt. as yet.

Penny has had lenses in the past, but now the lens for the ungrafted eye will not stay in & me putting them in for her has been way too painful for some time now. I will take the option of going on the list if her Consultant feels it is still appropriate-I had no idea
that there was such a shortage/long wait for donor corneas. It goes without saying that all our family now carry the card.

Thanks for the description of the pain, Dave. I think Penny is experiencing similar & expect you'll react with a snort of derision when I say that I tried paracetamol! Needless to say, it helped not a jot.

We are trying to keep Penny motivated but on Friday she spent most of the day in bed & probably only stayed up for about 2 hrs in total. I think she is trying to "switch off" to a certain extent.

I think if we have no news soon we may look into going private but that is an expense I could definitely do without at the moment (and maybe couldn't manage anyway).

Thanks again for your help--it's good to know we're not completely alone with this as it is a particularly distressing time at the moment. Penny came home distraught yesterday & I really can't let how upset I am show,

Ann (& Penny)

[Dave Dale]

Well my appointment for various ERG' type tests came this week..appointment is Friday 17th Dec so guess a 2 week wait is nothing!

Will let you know the outcome...

Good luck,
Dave.

[Ann Owens]

Penny's appointment arrived today
It's for the 14th.Dec & the hospital stresses not to be late due to the high demand for these tests.
At the moment, Penny is back in bed where she's been most of the day today. She woke up this morning holding the ungrafted eye shut & squinting hard with the other one."I can't wake my eyes up Mum!" So no Day Centre today, but she does appear at intervals for snacks!
Roll on next Tuesday

Regards to all

Ann & Penny

[Susan Mason]

Penny - Hope all goes well at your appointment. I have my next appointment on 16th Dec after a few bad months, things seem a lot better now though.

Ann - fingers crossed, hopefully you will start getting somewhere again. It is awful when you can't see, as I am sure you can imagine and also extremely frustrating as even the smallest task is so difficult. Penny must be really fed up.
I will keep my fingers crossed for you both,

best wishes

Susan

[GarethB]

It's all go before Christmas!

With any luck, the results of everyones appointments will give the answers and results you are hoping for to make Christmas a really good one this year.

I have just had my last appointment for the year and all went pretty well. Go back in threee months due to 'dimple staining' on my left eye (the good one). Came close to having a six month break, but at east this is only a very minor set back. If it stays the same or gets better no more visits for six months, otherwis it is a change to the left lens which I can live with.

Good luck to everyone and wishing you all the best of the seasons greetings.

Gareth

[Anne Klepacz]

Hello Ann

Good to hear that your appointment has come through quickly after all. Just wanted to add that the Keratoconus Group has some literature on the condition including the report of our 2001 conference with an article about scleral lenses (they're the ones which cover the whole eye so they can't fall out!) and a factsheet produced by RNIB on keratoconus in people with learning disabilities. If you'd like copies of these please e-mail me direct anneklepacz@aol.com and give me your postal address. All our mailing list members are automatically sent any booklets we produce as well as our regular newsletters.
I hope all goes well on 14th.
Anne