Genetic Testing for FH

[Aliwally]

Today I got my results back for FH testing..all negative for the three major genes known to cause FH.

The whole process from start to finish has taken three years (includes test results which took 10 months!)

Please, I'm not complaining, I'm just telling people how it is in England.

Just weighing up whether all the aggravation has been worth it, on balance yes, but I wouldn't want to go through it again.

[Aliwally]

Thanks Traci, good question! It could possibly be Familial Combined Hyperlipidaemia which doesn't have a single genetic cause and comes on later in life or it could be a polygenic hypercholesterolaemia (these words annoy me) which is the most common and basically they don't know what causes it.

[DakCB-UK]

So - what happens next?

Searching heartuk.org.uk for "genetic testing" returned no results.

[Aliwally]

HEART UK have an FH Guideline Implementation Team chaired by Dr Jonathan Morrell who spoke at the RSM Conference. Go to Health Professionals, then widespread media coverage and FH a Developing English Scandal.

Apparently, 27% of PCT's did not know whether lipid clinics in their area could carry out DNA testing. I should count myself lucky that I got it done at all.

Other people may not have such a "thing" about this, but for me DNA testing was the only way to confirm/exclude FH. If it was just myself, I don't think I would have pursued it, but my disabled daughter also had raised glucose and cholesterol levels and she can't fight for herself.

[Aliwally]

Also just found a Facebook page especially for FH and they are asking a lot of questions about genetic testing. I am a Facebook member, but not a great user, but couldn't we unite in some way.

[DakCB-UK in reply to Aliwally]

Facebook is a walled garden. You cannot interact with it unless you agree to their terms. I would be very unhappy if HealthUnlocked started sending my details to Facebook.

[Aliwally]

No, I wasn't suggesting that at all and I agree, I'm not a great Facebook fan either.

I did send a message to the group founder to introduce herself on this site as she is an ambassador for HEART UK but that is up to her.

If some people think this site is anti medical, just read some of the comments on Facebook. However, thank goodness we have free speech in this country and on this site as long as we are not abusive or malicious.