Any advice on how to persuade doctor to test my elderly mother for HH gene, please?
Posted , 2 users are following.
Hello,
My brother, sister and myself all carry 2 HH genes - brother has different combination (2×C282Y). Looking back, our father clearly was affected by the disease and passed away many years ago.
Our mother has had rheumatoid problems since she was very young. Her bones were described as "like lace" when she was in her 60s. She has undergone hip & knee replacements & her spine is curved. She frequently falls & breaks bones. She has always weighed too little to donate blood & is now, also, too old. However, she has had lots of operations & after each one she has seemed much improved, perhaps because of the blood loss.
I feel that the doctor should allow mum the gene test - he says she's essentially too old to warrant it. However, seeing how much better she is after losing blood in operations, I feel that a diagnosis may be a way of her being allowed occasional venessections.
Should I say that we would be happy to pay for the gene test?
We are in the UK.
Many thanks.
1 like, 4 replies
sheryl37154 haircrazydaisy
Posted
You could start with requesting Iron Studies - you could be able to tell from that those results if she has haemochromatosis, not just from the ferritin level, but the TS% which is more the telling marker.
However, it would be good to know what HFE gene/genes she has for the family tree. She obviously has one C282Y for your brother to be homozygous C282Y(i.e. one from mother, one from father), unless he is adopted.
It is very difficult to draw blood from the elderly so venesections may not happen. Post menopause without oestrogen supplement is a major cause of osteoporosis too.
By all means, play the pay for the gene test card (sorry, I don't know about UK rules), but normally she is entitled to a free genetic test because of her son's results.
Is your mum able to assert herself to request a test? Another option.
Good luck.
haircrazydaisy sheryl37154
Posted
Thanks, Sheryl. My sister & I are both H63D/C282Y & my brother isn't adopted so thinking mum could be a carrier of either gene or a combination of any?
She has already asked for the gene test but was refused because of her age - that's why I have arranged to go with her.
She was given a blood panel test but we were told "no action required" & when we asked for a print out the results "were not availsble".
Am I right in thinking that she is entitled to the test?
sheryl37154 haircrazydaisy
Posted
Maybe you could find another avenue to obtain the blood panet test results, because of course, they ARE available. Someone is just being difficult. I have read that people in the UK are able to access their blood tests results online.
Generally, if a family member has been diagnosed with HH, then other 1st degree relatives are entitled to a free genetic test.
haircrazydaisy sheryl37154
Posted
Thanks, Sheryl. I have signed up for on-line access to my test results but, disappointingly, the full details are not given, just those "no action necessary" comments. Mum doesn't have a computer so wouldn't be allowed to sign up for on-line results, anyway.
I'll see what they say when I take her next week. As you say, the results do exist somewhere.