Syndromes, Answers & the Lab Rat

It's been an interesting time around here lately . It started when my niece who was trying to get rid of some small white lumps from her neck & face at the specialists noticed I had the same thing ,( I always thought they were those little fatty lumps some people get ) so after some investigation & an autopsy , they were found to be benign tumors .
That was when the 50 questions started ................Anyone in your family have these lumps............Yes a couple of the others have them ......... & has any of them had kidney cancer ...........Yes , my uncle Paul ( and cysts on the other)..................any one had growths / cysts in the lungs or collapsed lungs ...............Yes my sister has had collapsed lungs 3 times & uncle Paul has the benign growths................
Etc. Etc...............So after lots of paper work to see if funding was available to us , off we went to the cancer research clinic ,where we were clinically diagnosed with Birt Hogg Dube Syndrome.........A rare genetic disorder where the gene which stops cells dividing mutates .
Now I had often wondered why my body turned to crap all of a sudden from 1999 & though some of it like small artery disease/ heart bypass could be put down to good living, there has been a lot of things which didn't make sense . Also because it's so rare they haven,t learned all there is to know about the effects of the syndrome because of the numbers of people involved, so not all symptoms can yet be proven ( I often wondered why my nieces daughter & me both have rheumatoid arthritis though........& why my mother died of throat cancer & never smoked in her life.........Oh well one day maybe )
To cut a long story short yours truly ended up as the lab rat because I`d had more symptoms than the others, so now we wait till the end of the year to see if they can find the spelling mistakes as they put it in my dna.
The up shot is then my kids / grand kids etc will be able to get the free scans etc to keep an eye on themselves in the future if they choose as it can cause other cancers. ( the syndrome has no cure ) Although some insurances , skin-diving & light air craft flights may then be an issue once diagnosed .
Hopefully any information they find out may bring us closer to finding a cure for cancer in the future .
If your interested , here is a condensed description of the syndrome........
http://emedicine.medscape.com/article/1060579-overview
http://en.wikipedia.org/wiki/Birt%E2%80%93Hogg%E2%80%93Dub%C3%A9_syndrome

Thank you for the informative links Paul and the best of luck with that mate.

To me I see it as a positive . At least my off spring know & can keep an eye on things & I have some answers to some weird shit in my life , and if some good can come of it , so much the better . The unfortunate part is that when my aunties & uncles grandparents etc died it wasn't talked about very much back then so we don't know the full circumstances for reference. I guess it just shows that it pays to not take anything for granted or at face value & check it out .

Well got the results back already , & they found the dna mutation in the FLCN gene .
So now the kids etc can make the choice to have the test or not under the research funding .50% chance of having it & a 50% chance of their kids having it .
Apparently there are only two families on the register in sth aust so early days as far as research goes but its a start at least .

That's pretty confronting, I admire your positive outlook.

Judging from the joke thread you have a well developed sense of humour, I guess that helps a bit.

Thanks Peter ,the thing is , I,ve had this for years & I'm just glad at least now have a label to put on it & my offspring now have a chance to be more aware in the future .I guess a positive outlook becomes easier & develops after you've beaten cancer, RA ,heart bypass & being told you have cancer a couple of times after & proving it wrong .( & a bloody good missus who keeps my feet on the ground so to speak )
The reason I'm passing this on is for A... interest , & B.... it sometimes pays to think outside the square .

LOL bloody hell , look at me getting all serious now ................Oh well that's my serious moment for 2012 back to normal now

Good attitude Paul, thoughts and prayers are with you for it all to work out.
keep those jokes coming,

truck

So you have PROOF that you ARE SPECIAL .I must try harder .

Thanks guys . My wife does home care services ( might come in handy later on ) & some of the people she sees have far more to contend with than me . Like the saying goes , there's always someone worse off .

best of luck paul!!

it gets you start to think about everyones gene pool,and where everyone comes from,and the unknown factors that may lie within all of us..good and bad

Very glade that you now have some of the answers Paul. The more complex our world becomes, the more ways desease seems to find ways to get rid of us. All the very best to you and yours.

mtbeerwah wrote:best of luck paul!!

it gets you start to think about everyones gene pool,and where everyone comes from,and the unknown factors that may lie within all of us..good and bad

I must admit I did wonder & commented to the specialist that if this is so rare , does that mean the ones that have it all related somehow . ( she didn't know but did say that as time goes on in other types of gene studies they do sometimes find related cases )

sorry to read such sad news for you.i myself have been diagnosed with leukimia plus polycythemia so i no what you must be going through.my wife had a bonemarrow trasplant for multipul myloma but shes still here 12yrs later.but we must keep are spirits up and keep the hand ona throttle good luck to you and your family best regards adrian

bonnevile wrote:sorry to read such sad news for you.i myself have been diagnosed with leukimia plus polycythemia so i no what you must be going through.my wife had a bonemarrow trasplant for multipul myloma but shes still here 12yrs later.but we must keep are spirits up and keep the hand ona throttle good luck to you and your family best regards adrian

And all the very best to you and yours Adrian.

Sorry to hear that Adrian & I wish you & your family all the best mate. I can't imagine life without riding bikes / it keeps us sane , alert , fit & a gives us a positive outlook on life in general .

paul wrote:Sorry to hear that Adrian & I wish you & your family all the best mate. I can't imagine life without riding bikes / it keeps us sane , alert , fit & a gives us a positive outlook on life in general .

thanks paul yes riding bikes certainly keeps us on are toes.but riding these bandits is a different experience to the british bikes ive had all my life.fast easy matenence ie not spannering every week.and to cap it all reliable.and no more kickstarting gets a bit of a pain when they deceide to kick back.had a t150 trident do that not very good for the ankles.best regards and health for the future adrian