A Diagnosis at Last (I think!)

[Aliwally]

What is even better than two bank holiday weekends and a Royal Wedding? Why, an accurate diagnosis of your inherited high cholesterol of course. I apologise for any sarcasm, but I have just been told that I probably don't have FH at but FCH and this could have been diagnosed over a year ago. Profuse apologies all round from consultant which of course I accept.

However, I did point out (not gently I'm afraid) that this has actually caused me a year of anxiety wondering if my very vulnerable daughter has it as well.

If anybody else tells me that it hasn't affected my treatment I will scream as that is not the point, it does affect a patient's mental well being and long term management.

Anyway have just celebrated with a champagne Royal Wedding tea with my daughters. A week early, I know, as they are back to uni at the weekend.

[Aliwally]

Thank you Traci ! It is so good to share feelings with people who have similar experiences. Please bring back a lot of information about Familial Combined Hyperlipidaemia from the HEART UK Conference when you go.

Yes, the wedding tea was lovely and for once I ate all the things I shouldn't like scones and double cream and chocolate cake (what a rebel!). Extra lengths in the swimming pool next week.

[Hidden]

I'm sorry to hear that you had to wait so long for your genetics results to come back. I can say that having worked in a lab (screening for FH mutations), finding one mutation in over a thousand can take a long time. Genetic technology is progressing at a very fast rate. Once new technologies are established in clinical laboratories it will be possible to make an accurate diagnosis in much shorter time so other patients won't have to wait like you did. Now your mutation is known, screening any family members won't take as long.

[Aliwally]

Thank you for this, Tina. In my case, the lipid clinic made a wrong diagnosis and I probably don't have FH any way. My main source of frustration was the conflicting information I was given over whether there was funding for genetic testing in my area. The situation in England seems to be a post code lottery.

I have nothing but admiration for the clever people who trawl through DNA to discover mutations and I actually don't mind waiting 6-9 months for a result (although I wish it was quicker!)

[sunset31]

Hi there can I ask what your cholestrol reading was on discovery of you're condition please? As I may have the same.

Thanks

[Aliwally]

Hi Sunset,

My original reading was 8.9, but at that time I was about 2 stone overweight and hadn't seen the light" about the importance of a good diet and exercise.

As I started to lose weight it came down to 8.3 and I think this is about my average level without medication.

I don't have FH (confirmed by genetic testing) more a genetically high cholesterol level which nobody seems to be able to name! This means that unlike FH I haven't had these levels all my life, in women levels tend to rise after the menopause, I am 59.