Tomorrow I am going to have genetic testing for hereditary haemochromatosis.
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“Haemochromatosis is caused by a faulty gene that can be passed on to a child by their parents.”
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“Predictive testing of individuals who have a family history of HH, in coordination with appropriate genetic counselling
This test detects the 2 common disease-causing variants in the HFE gene: C282Y (c.845G>A) and H63D (c.187C>G). The S65C variant will be reported only when it is observed as part of the C282Y/S65C genotype.”
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I have signed the form and given permission for any blood left over to be used for research purposes. I can’t undo the test nor unsee the results and if I am indeed a mutant there is a legal obligation for me to tell relatives in France. I can ask the GP to do this, if I want.
According to the NHS the disease is caused by a “faulty” gene, a bad pair of Levis. NHS speak is not always the most helpful and it is aimed low.
I will find out if I have the X-factor soon and if I can join the mutant army.
Because I have a proper nanna disease, osteoporosis, I am also having a whole bunch of other tests on my Thyroid function done.
Yesterday because we had mole sign, I set traps down by the edge of the pond. Today we went for a walk along a beach. Both of these are getting harder. In two weeks, I will find out if there is a possibility / likelihood of being able to have replacement hips. It is difficult to imagine what life might be like with some flexibility and reduced pain. There is no guarantee.
People selling hip surgery quote statistics like these:
“In general, the success rate for hip replacement surgery is high: About 95% of patients experience relief from hip pain. In one study, HSS interviewed patients to learn about their progress. Two years after their surgeries, 99.4% of patients said they had relief from pain, 98.8% said their ability to move was improved, and 97.8% said their quality of life was better because of their surgery.”
Because I am worth it…there is no big U for Unilever.
The Arthritis foundation says:
Pain Before and After Hip Surgery
- 90% – Of patients who had moderate pain before their first surgery reported mild or no pain after five years.
- 89% – Of patients with severe pain before their first surgery reported mild or no pain after five years.
Limitations After Hip Surgery
Some patients still have limitations after total hip surgery in activities like walking, climbing steps and getting in and out of a car. Seven percent of patients with moderate limitations and 20% with severe limitations before their first surgery still had severe limitations after five years. Among those having revision surgery, 13% who had moderate limitations and 30% with severe limitations reported severe limitations after five years – so 70% were doing well.
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This is not such a rosy picture. I am on the younger end of the age spectrum despite officially qualifying as an “older person” now. This data is not age weighted. Given my level of medical comorbidities, I don’t have to worry about living another twenty years, so I will probably only need one set of joints. It clearly is not a universal holy grail or panacea for hip osteoarthritis.
In some sense I will have to place a bet. I will be betting that the surgery can happen, that it works and that I recover. I am betting that it will not kill me. My guess is that the second operation will be harder to handle and the likelihood of death during and afterwards higher. I am betting that I will feel better and more able, eventually, post-op. It will take a lot of time.
If I have HH I will probably be getting bled on a regular basis too.
It is possible that I may have some more fun to add to the medical merry-go-round pencilled in for summer. Colonoscopy, prostate PSA levels too high follow up {un toucher rectal} and French rheumatology are all in my diary upcoming. I need to have a full dental survey to rule out infection before I start on bisphosphonates for my brittle bones.
Blood tests often lead to more blood tests…maybe my Thyroid is shot too!
Hey-ho…
It would be a lot easier to take me out the back paddock and shoot me….
