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Is genetic test pandora's box?

(11 Posts)
Nikkip0ps Fri 05-Feb-16 10:15:28

My DD has been referred to a geneticist as the consultants believes she may have Russell Silver Syndrome. He has ordered an x-ray and blood tests including genetic test. She is a tiny girl 97cms at 60 months and does present with some of the signs of RSS. I know that not all cases are diagnosed using a gene test however and I am worried about screening her as it could bring up a whole raft of other ailments that she may develop very far into her future. The RSS itself can be treated in some part with growth hormones but he insisted that it is not a life limiting condition. Without growth hormones she may reach 4ft 8 adult height.
I don't know what to do about the test. He wanted her to have it there and then but I couldn't make that decision without speaking to my husband so have delayed it. The consultant stated that he would have to disclose all illnesses/conditions that the test identified even though they were only looking for RSS. What if we found out that she may develop bowel cancer in later life or parkinsons in her 50's how would we carry on with our 'carefree' family life knowing that?
Is it better to know or is ignorance bliss?
I want to do the best for her but I'm not entirely sure having such a lot of information is helpful. Any advice would be gratefully received.

VagueIdeas Fri 05-Feb-16 10:22:01

Knowledge is power, I think.

If she does, for example, have an increased risk of bowel cancer in later life, then how can it be bad to know that? She can be regularly screened. That's far better than being at increased risk and not knowing.

And increased risk doesn't mean "will definitely happen" smile

I see that you feel you could never be happy or carefree again knowing these things, but we are ALL at risk of cancer when you think about it. It's something you learn to live with in the end.

TheGreatSnafu Fri 05-Feb-16 11:04:26

Nikki It looks like screening for RSS is complicated - I am not sure if only specific genes are tested for mutations or if a series of genes are tested? Are you clear as to what other potential incidental illnesses could be thrown up from the testing?

It looks like a chromosomal abnormality in which case it would only be testing for RSS - right?

We have had genetic tests here and yes, we have knowledge that one of our DC has a 85 to 90% risk of a certain type of cancer.

I will be honest with you - some days I wish we didn't know. Somedays the burden of it is awful and other days I can rationalise that the knowledge has lead to early screening and early intervention will absolutely prolong their life.

Still, it really isn't nice knowing so clearly what the future will probably hold and I get envious and angry at those parents who don't carry such a burden and then I feel childish because I am in a privileged position to have this information that is there to protect and help my child! My feelings are complicated and conflicted about it. I hope to find better resolution about it as the years pass.

However, the knowledge that we have will most probably also inform the DC's future cancer treatment which is reassuring.

Will your daughter only receive RSS hormone therapy based on the results?

I wouldn't go back, I wouldn't undo the testing. We had to do it, we didn't feel like ethically we could refuse because we take all measures to ensure the longevity of our child's life but the burden is there, you aren't ignorant and it is painful.

My DH is more optimistic and seems less pained by it than I am and that's fine, I wish I didn't find it so painful, I really do.

If you are conflicted, talk to other parents of RSS children, ask for genetic counselling and make sure that you are clear on the potential incidental findings. Don't take the test until you are certain that it is what you want and until you know that you are making a fully informed decision.

Gah, I hope that doesn't sound bossy. Maybe someone else will weigh in with a different opinion/experience that will contrast to mine.

All the best to you.

Jimmytaughtmethatone Fri 05-Feb-16 11:13:25

Sorry to highjack the thread snafu but was the testing advised by hcps? My husband has hnpcc which our dds have a 50% chance of unheriting. Hnpcc gives an individual an 80% chance of developing bowel cancer with increased risk of stomach, uterine and cervical (I think) cancers. I've enquired re having them tested but hcps have said not until 18yrs. I personally would like to know now, we have had several family members have a cross upon finding out at 18yrs when they're dreading the test. Far better to grow up with a knowledge and have a diet excluding red meat etc.
Op, I agree with pps, forewarned is forearmed. All the best.

Jimmytaughtmethatone Fri 05-Feb-16 11:14:25

*crisis, not cross.

TheGreatSnafu Fri 05-Feb-16 11:23:01

No, sorry, jimmy I don't know what hcps is? We don't have hnpcc.

I woulnd't see why you'd have to wait until 18, that's awful!

I agree, far better to grow up with the knowledge and be aware of symptoms and any preventative measures that you can take.

Jimmytaughtmethatone Fri 05-Feb-16 11:40:27

Hcp = Health care professionals. Thanks for that. I might send dh to the gp and see if he can get a referral.
I too agree that an increased risk isn't a certainty but my dh is screened regularly for bowel cancer and it gives us peace of mind.
Take care guys smile

TheGreatSnafu Fri 05-Feb-16 11:43:50

Yes, you should easily receive a referral to a geneticist and should not have to wait until 18 years old for testing.

All the best.

Jimmytaughtmethatone Fri 05-Feb-16 11:55:03

Thanks snafu

Flutterbyebyebye Sat 06-Feb-16 03:10:06

My little boy 18 months has suspected RSS. He has already had the genetic testing which has shown some areas of duplication on chromosome 7 which may mean RSS. The next step is for my husband and I to have the testing to see if the duplication is inherited and therefore irrelevant or if it is RSS. You may want to prepare yourself for potentially being tested if the testing comes back indicating that it could be RSS. They can make a clinical diagnosis but my son has very few of the RSS characteristics apart from being small and underweight.

I didn't really think twice about the testing as it was done while he was admitted to hospital after a severe hypoglycaemic episode and the Drs were trying to get to the bottom of it.

My feeling is that I'd rather know and it will give you a strong case to get the growth hormones if you have a confirmed diagnosis - if it gives you any comfort they didn't tell me anything apart from the issue on chromosome 7. There are specific genetic markers they are looking for with RSS and they only involve chromosomes 7 and 11.

Nikkip0ps Sat 06-Feb-16 12:43:24

Thank you for advice. I think we are going to mull it over for a week and see how we feel then. I've already changed my mind twice. Really helpful to hear from another mum who is facing RSS diagnosis - thank you. It is so rare and many of the websites seem to be US. My DD doesn't suffer with hypoglycaemia but is tiny with elfin features, curved little fingers and pigment patches. She is incredibly cute but I can see that now she's started school this is starting to affect her- 'do not pick me up, I am not a dolly!' is her mantra!

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