My rather late Genetic diagnosis step by step.
Jan 23, 2019 8:54:22 GMT -5
tummyache, rysmom14, and 1 more like this
Post by ukbill on Jan 23, 2019 8:54:22 GMT -5
OK so I was diagnosed as having "Primary Fructose Intolerance" back in 1981 when they nearly killed me giving me far too much Fructose via IV. with the dreaded "Challenge test".
Because I am trying to set up a charity to support people and carers of people with the condition I have been in contact with the Top UK specialist Dr T Cox at Addenbrooks Hospital Cambridge.
This gentleman is way past retirement age (possibly by over 10 years) but is so involved with helping people he is still doing stupid long hours (I estimate 80 hours a week) and travailing world wide to conferences etc where he is doing invaluable work spreading the knowledge about genetic conditions such as ours.
He will be actively involved in providing a medical background and real in depth knowledge to the charity but being as he is extremely busy much of the support will not be face to face, and supplied by his Team.
There simply is not enough time for him to do all the support himself.
At Addenbrooks Hospital there is a good team and many highly motivated knowledgeable people there to help.
The key point here is these are not people who do this just for money, they do it for the love of the job and the help they can give.
No one works in the NHS for the high salary! Because many x the amount they get paid can be had in the private sector.
Anyway this is all off the point of this post.
Yesterday 22/01/2019 I went to see the Clinic in Cambridge ( a 3 hour each way drive)
They took a detailed medical history and family history.
Lots of blood tests to check for everything they can sensibly test for (which is a lot!)
They also had a pee sample.
After all this I was examined by Dr Cox himself and I was found to have an enlarged liver, which I had expected.
The next step is an Ultra sound scan and possibly an MRI and xray.
These will be done in a few months time.
I could be scanned locally but been as the results would be reported on in Addenbrooks, it would be best if the person doing the report did the scan.
So its to Addenbrooks I return in a few months time.
I will keep everyone up to date when results are known.
For those who do not know.
I had absolutely no useful advice as to diet or the information that I could still be damaging myself, even though I was not eating enough Fructose to cause a "reaction", until I found this resource about 14 to 15 years ago.
It was only by reading what people were doing wrong (and right) that helped me start to do things a lot better, and sort out my diet before it was too late.. I think another 5 years on my previous diet might have done for me, or at least done far more irreparable damage as to make life as I live it now far less enjoyable.
What you can get away with when you are under 40 is not what you can get away with after! At least not in my case.
I just wish I had known what I know now when I was younger.
I am constantly refining what I know and trying to pass on this knowledge to anyone who will listen.
With access to the top genetic clinic in the UK specializing in this condition (if not the world) I hope to get the best up to date knowledge available.
I hope to reduce the load on them that they simply do not have the time to help with.. and also knowing clinically what happens is different to knowing how this feels and effects a person with the condition.
So hopefully the advice and help I can give is filtered through experience as well as hard clinical facts.
They will do HFi Genetic testing (for anyone) and if the results are negative yet the symptoms appear to be HFi they will do a full sequencing of the Genome to find the new culprit Gene.
Anyone who seems to be clearly HFI would do well to help us all by getting them to do a genetic test on them too. This will help expand the knowledge of the condition and help us all.
Its slightly annoying that if they only find the key known markers they then do not sequence the whole genome looking for others too.
However this might not be posible because the masking effects of the other faulty genes, I am not medically trained and do not know these things (yet)
Keep smiling folks and as always... Eat Safe!
Because I am trying to set up a charity to support people and carers of people with the condition I have been in contact with the Top UK specialist Dr T Cox at Addenbrooks Hospital Cambridge.
This gentleman is way past retirement age (possibly by over 10 years) but is so involved with helping people he is still doing stupid long hours (I estimate 80 hours a week) and travailing world wide to conferences etc where he is doing invaluable work spreading the knowledge about genetic conditions such as ours.
He will be actively involved in providing a medical background and real in depth knowledge to the charity but being as he is extremely busy much of the support will not be face to face, and supplied by his Team.
There simply is not enough time for him to do all the support himself.
At Addenbrooks Hospital there is a good team and many highly motivated knowledgeable people there to help.
The key point here is these are not people who do this just for money, they do it for the love of the job and the help they can give.
No one works in the NHS for the high salary! Because many x the amount they get paid can be had in the private sector.
Anyway this is all off the point of this post.
Yesterday 22/01/2019 I went to see the Clinic in Cambridge ( a 3 hour each way drive)
They took a detailed medical history and family history.
Lots of blood tests to check for everything they can sensibly test for (which is a lot!)
They also had a pee sample.
After all this I was examined by Dr Cox himself and I was found to have an enlarged liver, which I had expected.
The next step is an Ultra sound scan and possibly an MRI and xray.
These will be done in a few months time.
I could be scanned locally but been as the results would be reported on in Addenbrooks, it would be best if the person doing the report did the scan.
So its to Addenbrooks I return in a few months time.
I will keep everyone up to date when results are known.
For those who do not know.
I had absolutely no useful advice as to diet or the information that I could still be damaging myself, even though I was not eating enough Fructose to cause a "reaction", until I found this resource about 14 to 15 years ago.
It was only by reading what people were doing wrong (and right) that helped me start to do things a lot better, and sort out my diet before it was too late.. I think another 5 years on my previous diet might have done for me, or at least done far more irreparable damage as to make life as I live it now far less enjoyable.
What you can get away with when you are under 40 is not what you can get away with after! At least not in my case.
I just wish I had known what I know now when I was younger.
I am constantly refining what I know and trying to pass on this knowledge to anyone who will listen.
With access to the top genetic clinic in the UK specializing in this condition (if not the world) I hope to get the best up to date knowledge available.
I hope to reduce the load on them that they simply do not have the time to help with.. and also knowing clinically what happens is different to knowing how this feels and effects a person with the condition.
So hopefully the advice and help I can give is filtered through experience as well as hard clinical facts.
They will do HFi Genetic testing (for anyone) and if the results are negative yet the symptoms appear to be HFi they will do a full sequencing of the Genome to find the new culprit Gene.
Anyone who seems to be clearly HFI would do well to help us all by getting them to do a genetic test on them too. This will help expand the knowledge of the condition and help us all.
Its slightly annoying that if they only find the key known markers they then do not sequence the whole genome looking for others too.
However this might not be posible because the masking effects of the other faulty genes, I am not medically trained and do not know these things (yet)
Keep smiling folks and as always... Eat Safe!