Partially sighted and ttc

[Jen1209]

Hi,

I was born with corneal dystrophy (corneas did not form properly when I was born) and have also been ttc baby no 1 for a year. I am really worried about passing my sight problems on as it is heriditary (spelling rubbish) as my mum has a barely noticeable touch of it.

Although I have a fairly normal life (tho only thing I can't do is drive) I am v worried about passing this onto a baby.

Question for anyone who is reading is - does anyone know anyone in a similar position and how did they cope or does anyone know about the chances of passing this on? My DP has normal eyesight.

Hope this makes sense and hope you can help...

Jen

Hi Jen - jsut thought I'd post as I was in a similar position to you when ttc. I was born with congenital cataracts and was told that as my husband was unaffected, we had a 50% chance of our child having them. 'Fraid I have no idea if corneal dystrophy whould have the same % risk though.

You sound like me....peretty normal life but can't drive. Everything else is ok, maybe a bit slower but ok. Surgery for cataract removal is prety good today, so we thought even if we did have an affected child, he/she would still have every chance of leading a normal life. Don't know if there is any help available for your condition though....?

One other thing. We got our sons eyes checked by the local opthalmologist (sp?) asap after he was born (he's fine.) But I was determined to pick up any probs quickly. Possibly your condition could be picked up on a scan?

Sorry for not being more help, but I understand the worry. Good luck with ttc

Jen, corneal dystrophies can be recessive or dominant, if recessive your baby would be a carrier but not actually develop the disease, if dominant he/she would have a 50:50 chance of having the disease but they could have just a slight touch, like your mum or more severely as you do yourself. Your best bet would be to consult with an ophthalmologist to get an exact diagnosis as to which type of dystrophy you have and he would be better able to inform you as to your chances of passing it on. The only thing I would say is that every human being can live a full life even with a disability and I'm sure your mum is glad she had you!

Hi everyone

I know this is an old thread but just on the off chance that Jen and ETsmum are still reading mumsnet….

I have been visually impaired from birth, I am registered blind but have enough sight to do most of the things I want to do. (I do drive – once a year on Christmas day my DH lets me drive his car around a large empty car park!! No crashes yet…)

I am expecting my first baby in July who has a 50% chance of inheriting my eyesight problems as my condition is dominant. Other members of my family have it and have much better vision than I do so baby won’t necessarily be blind even if he/she does get it. There is very little that can be done medically though and it won’t show up on the scans so it is really a wait and see situation.

ETsmum – It is lovely to hear that someone else has been through this and that their child was lucky!

Entropy

I hope all is going ok with baby, Entropy and any news, Jen 1209?
I have macular dystrophy and cone and rod degeneration, registered blind, but like yourselves, am able to most things, except drive, unless in an emergency, but as hospital is outside front door, not much chance of that!
Mine is hereditary and yes, 2 of my 3 ds's have been diagnosed (at their request) so have been able to choose careers accordingly. But, my niece, with same problems but worse, has decided not to have children, so as not to pass this on. Moorfields in London are doing a lot of stem cell research so things are 'looking' up. Good luck to both of you! xx

Hi ManxMum! thanks for replying to such an old post

DD did have it the last few months have been really hard. we are seeing so many doctors in so many hospitals. have to travel to Great Ormond St tomorrow for the results of her MRI. hopefully then they will be sure they have a full diagnosis and will tell us her options for treatment (she has symptoms that I don't have) on top of all that they have decided that they don't really know why I am like I am and want to do more tests on me. they have found that I have moderate muscle weakness in my arms! not sure if they have always been like that... nobody every checked before! dd is mobile now and is always finding strange and dangerous things to eat on the floor! I am finding it hard to keep everything away from her as her sight seems to be better than mine and she is always finding things that I have missed. she is threatening to walk now and I know that it will get far worse then!

we've seen a genetics Dr and he says that any further children will probably get it too so we've decided to stop at one. probably best as I don't think I could cope with keeping track of two. still a bit sad about her being on her own though.

Hi Entropy! So sorry to hear that DD has it. I know how it is as my DS4 puts everything in his mouth and sometimes and I grab something away saying 'Noooooo!' and it turns out to be a raisin! I must really find out the vitamin content of the local bug life.

My DH has got used to the suppressed screams when I think I see a spider on the floor and it's just a 'floater'

I suppose that as so many of us in the family suffer from MD, that we just joke about it, reminiscing about the slug salad my mother prepared (well it was fresh!) and the 'Rocky Horror Show' attempts at applying make-up!

Heigh-ho, lifes fun!