Gene testing - Stargardt's

[AHarvey]

Hi,

This is going to be an odd one. We've had a letter today saying that our 5 year old is being referred to hospital after an eye test at school.

Upon speaking to him it appears that a small patch in his left eye is blurry so that a single letter or two in book title from 2 ft is blurry or disappears.

I used to work for a visual impairment based company so knew I could get sample's out there and asked him to pick which image was like what he saw and he picked one that matched juvenile macular degeneration, the most common of which is Stargardt's syndrome.

We've been waiting for a referral for my 9 month old for 3 months already and we've been told it'll likely be after Christmas for him. I'd like to find out a little more about my son's eye issue without having to wait so long, it's been hours and my wife's a worrier, it'll only get worse for her until we know something.

It looks like it's a result of faulty genes so was wondering if anyone knows of any private companies that do home testing kids we can then send back that would specifically be able to look at the ABCA4 & ELOVL4 gene's and any related ones?

I'd rather pay and know asap over waiting, and we're looking at going private as well but again, I know waiting times can still be rather long at the moment.

thanks

 

[tom_nieto]

Might be worth looking at the mainstream genetic testing companies such as 23 and me to see if they cover the regions that you’re interested in. Elective outpatient services are creaking and groaning at the moment in all sectors.

The issue with home genetic testing is that clinical correlation and follow up is required, so I’m not sure you’ll get much reassurance from an isolated result.

EDIT - also I’d be wary of allowing a private company to hold my genetic information.

 

[BowdonUK]

Why not you make an appointment at a private hospital with an eye consultant?

Usually the appointments are pretty quick, 1 or 2 weeks. When you pick the doctor it usually tells you how much it'll cost for the initial appointment.

I usually use the BMI Healthcare. You don't need private health insurance to use these places, just pay for it out of your pocket. Sometimes if it's an NHS consultant and there needs to be a procedure done they might offer to do it on the NHS for you, so you'll go on their waiting list (or you can pay for him/her to do it sooner).

The only snag is you might need a referral letter from your kids gp. Usually thats not a problem, though some charge for it.

 

[AHarvey]

Might be worth looking at the mainstream genetic testing companies such as 23 and me to see if they cover the regions that you’re interested in. Elective outpatient services are creaking and groaning at the moment in all sectors.

The issue with home genetic testing is that clinical correlation and follow up is required, so I’m not sure you’ll get much reassurance from an isolated result.

EDIT - also I’d be wary of allowing a private company to hold my genetic information.

Honestly, for something like this holding genetic info isn't the biggest concern although normally I'd agree. I've looked at the mainstream ones but they seem pretty rubbish in what they actually test for as it's more general items. I did find one company that tests for the genes, but you've got to be a dog, cat or other select animals so that's a no. Still going to keep looking and fired a few emails off.

Why not you make an appointment at a private hospital with an eye consultant?

Usually the appointments are pretty quick, 1 or 2 weeks. When you pick the doctor it usually tells you how much it'll cost for the initial appointment.

I usually use the BMI Healthcare. You don't need private health insurance to use these places, just pay for it out of your pocket. Sometimes if it's an NHS consultant and there needs to be a procedure done they might offer to do it on the NHS for you, so you'll go on their waiting list (or you can pay for him/her to do it sooner).

The only snag is you might need a referral letter from your kids gp. Usually thats not a problem, though some charge for it.

That is the other thing we're looking at, the wife's parents have said they'll cover any costs, not that it's needed, but we're going to start looking first thing Monday.


Thanks both for replying.