new2discus Posted January 26, 2009 Report Share Posted January 26, 2009 Hi all, after having been recently diagnosed with a rare (1 in 160,000) genetic condition I am courious as to what others may have...or if there is anyone else out there with my condition. I will start by describing my condition: it is called pseudoxanthoma elasticum, and as i said is genetically inherited (although i dont know of anyone else in my family who has this). Basically speaking it is a build up of calcium in the elastic fibres (connective tissue) throughout the body. This can lead to vision loss, heart disease (strokes, angina and heart muscle disease). There is no real preventative treatment available, although i understand if problems arise they may be treated, but i dont know this for sure yet. I have specialist appointments set up (welcome me to the public health system) but am wondering if anyone has any advice on dealing with doctors etc? Quote Link to comment Share on other sites More sharing options...
Barrie Posted January 26, 2009 Report Share Posted January 26, 2009 wish I had known this this afternoon... could have shown you a few things Best advice is to record everything and never throw away any contact of any type at all. I have a condition that is far from uncommon but after waiting to get into the system for longer than was normal, I was told that I had already been treated. (The initial treatment called for me to be admitted for the day {only} and be totally knocked out). When I told them that I had never had the procedure, they told me that my records showed that I had so I was wrong... not even mistaken... I was wrong!. Most people remember their first time they are "knocked out" as its a bit scarey but no, I was wrong according to them. It took several letters ending up with the director of the hospital before they admitted that they had mixed my records up with a lady with a similar problem. Once your in the system, I cant fault it but until then keep everything including the envelops (has the date stamped of it) and make sure you contact them well before or your apointments will be reallocated. When dealing with any government department at all, record everything you can including names, times, dates and rough discription of the conversation Quote Link to comment Share on other sites More sharing options...
livingart Posted January 26, 2009 Report Share Posted January 26, 2009 barrie is orrect and if you think you aren't being listened to or fobbed off there are advocates available to help you out ps. good luck Quote Link to comment Share on other sites More sharing options...
DonnaM Posted January 26, 2009 Report Share Posted January 26, 2009 At every appointment you can ask for a copy of any letter the Specialist or your GP has written so you know what they are saying about you. You are able to ask for copies of any x.ray, blood test or any other test results. Often your GP can provide all this. (Just phone and ask nurse for anything you want. No cost involved) Best to sign the bit that says "yes" Hosp can send info to your GP.... Good luck with your specialist appointment and remember they're only human and not a 'higher being' Also it may help to write down any questions you have before you get to specialist, that way you wont be kicking yourself for forgetting to ask something. Often having a good friend or family member with you can be helpful, as they'll remember things you may forget. Don't be afraid to ask questions or write down things the Dr says if you want to either. Its your body and you're entitled to the best care and understanding of your condition that you can get. And who cares if you ask a silly or embarrasing question...the specialist isn't going to worry. After they've 'dictaphoned' all the relevant medical info they want to say about you in their report ,after you leave, they're on to the next person and not thinking about you anyway. Best of luck :bounce: Quote Link to comment Share on other sites More sharing options...
Zev Posted January 26, 2009 Report Share Posted January 26, 2009 We had a situation where my Mother had an appointment with a doctor at the hospital, but she ended up with a locum, who scribbled some notes and did not send them on to a specialist as he said he would. After a couple of months of no reply from the specialist, my Mother was becoming concerned, she asked her GP who said that he had nothing forwarded to him either. The GP's nurse got onto it and found out what happened, made my Mother another appointment to get an appraisal as the first doctors notes were not comprehensive enough for the normal doctor there write up anything to send to the specialist. The doctor said that the problem was treatable (macular hole in the eye) but if you catch it fast the results may be better after surgery - man, I was ready to spit tacks at this stage. So, if nothing seems to be happening, ask, and if you are not happy with the answer or timeframe, ask some more, and keep doing so until they get sick of you and action your requests just to get rid of you! And if you are dealing with someone who wants you to send documents, make copies of these before you do - we have just had ACC say they have lost my Mothers claim documents because they went to the wrong office (not her fault), so can you send them again? She has copies of some, but not all of them. Quote Link to comment Share on other sites More sharing options...
Caryl Posted January 26, 2009 Report Share Posted January 26, 2009 All excellent advice (says she who works for a GP and deals with patients and the public health system all the time). Keep copies of everything and never fail to ask questions. It may help to take someone with you to your appointment too as they may later remember something the specialist said that you had forgotten or may think to ask something you didn't. Make sure you confirm your specialist appointments too. Be grateful you aren't dealing with ACC! :roll: Quote Link to comment Share on other sites More sharing options...
spoon Posted January 26, 2009 Report Share Posted January 26, 2009 having a really good gp helps too for a year i was pushed back and forth between mental health services and my gp until i got a more respected gp who stood up to them. Quote Link to comment Share on other sites More sharing options...
Barrie Posted January 26, 2009 Report Share Posted January 26, 2009 slightly off topic but closly related few years ago my middle daughter broke her arm for about the 5th time (she has to always beat guys that are twice her size). A&E reception started to fill out a from for her which found unusual as I was there. Where it asked for "name" this woman filled out her own name and when I pointed it out she told me to sit down as she knew what she was doing. I had had enough so walked to her side of the counter and grabbed another form as she called the security. Thankfully the security guard (an Island guy that had trouble speaking english) could see her mistake and sorted it out. I was later told that she had been there for over 3 months and they couldnt get rid of her. The way the security guy sorted it out, there is no doupt that he had had to do it before as well. Ive never had a problem with any medical staff but some of the clerical staff would never ever be employable in the private sector and thats what your fighting against still now Quote Link to comment Share on other sites More sharing options...
David R Posted January 26, 2009 Report Share Posted January 26, 2009 I just found out as part of a pre-employment medical that I have a Right Bundle Branch Block. Its been cleared by the cardiologist (after nearly $1000 worth of tests) and I'm fit to go. Apparently its the kind of thing, that if its not serious, you would live your whole life not knowing you had it unless you happen to have an ECG. Quote Link to comment Share on other sites More sharing options...
livingart Posted January 27, 2009 Report Share Posted January 27, 2009 that explains a lot david Quote Link to comment Share on other sites More sharing options...
Navarre Posted January 27, 2009 Report Share Posted January 27, 2009 RBBB ..lol...be greatful its not a LBBB....way less common way more serious Navarre Quote Link to comment Share on other sites More sharing options...
Caryl Posted January 27, 2009 Report Share Posted January 27, 2009 I haven't got any rare medical condition (that I know about anyway :lol: ) but do have a rare blood type. My mum and one brother have even rarer types than mine. The rest of the family appear to be commons 8) My son was born with congenital heart defects (nothing to do with my rhesus negative blood problems) and is now fit and healthy after 2 lots of open heart surgery at ages 16 weeks and 3 yrs, but when he was in Wgtn Hospital (before he was sent on to Greenlane - Starship didn't exist then) he had a lot of student Drs asking to listen to his heart as they had not heard his particular defect before and they were keen to do so as it was the only way they would know what it sounded like. Quote Link to comment Share on other sites More sharing options...
new2discus Posted January 27, 2009 Author Report Share Posted January 27, 2009 Thanks for all the advice everyone. I do hope i dont have every man and his dog trying to guess what i have (my little bro, now 15, had to have spinal surgery about 18 months ago and at the specialist app at starship they brought in all the trainiees to try and guess his condition). Mum asked me to go with them so that i could ask any questions she forgot, and perhaps remember things she didn't, although she did take notes. I will make sure to keep all letters (and envelopes which i hadn't thought about). Trying to think of someone to take with me. My referral to the eye specialist has already gone awol, but my gp (who has no idea about the condition) is on to it. Carly...whats your blood type, found out mine is AB- which i understand is also very rare,,,I always knew i was special, guess now i how just how special :lol: Quote Link to comment Share on other sites More sharing options...
David R Posted January 27, 2009 Report Share Posted January 27, 2009 RBBB ..lol...be greatful its not a LBBB....way less common way more serious yikes! I guess I am lucky. It didn't stop me from getting the job, so I'm happy. Quote Link to comment Share on other sites More sharing options...
alanmin4304 Posted January 27, 2009 Report Share Posted January 27, 2009 Ab neg is the rarest blood group-- my brother has it. The good part is that AB is the universal receiver. Quote Link to comment Share on other sites More sharing options...
Caryl Posted January 27, 2009 Report Share Posted January 27, 2009 O+ = 42% of population A+ = 35% B+ = 8% O- = 7% A- - 5% AB+ = 1.7% B- = 1% AB- = 0.3% My mum is AB+. I am only an A- so not as rare as some. My brother is B-. I believe my dad is a O so all us kids have to be A or B either + or -. Sister just told me she is B+ Quote Link to comment Share on other sites More sharing options...
alanmin4304 Posted January 27, 2009 Report Share Posted January 27, 2009 I am B-, left handed and footed and right eyed, that is my excuse for everything. Quote Link to comment Share on other sites More sharing options...
Navarre Posted January 27, 2009 Report Share Posted January 27, 2009 Alan, How can you be right eyed. Cantabrians only have one eye, dont they? Quote Link to comment Share on other sites More sharing options...
Barrie Posted January 27, 2009 Report Share Posted January 27, 2009 Alan, How can you be right eyed. Cantabrians only have one eye, dont they? I was going to say that was funny but facts cant be funny can they? :evil: Quote Link to comment Share on other sites More sharing options...
alanmin4304 Posted January 28, 2009 Report Share Posted January 28, 2009 Don't make fun of people with disabilities or I will slash the tyres on your wheelchair when you get old and frail. You can be right eyed and one eyed if you don't have a left eye Quote Link to comment Share on other sites More sharing options...
Zev Posted January 28, 2009 Report Share Posted January 28, 2009 Now now, you two, keep it civil - anyway, shouldn't you both be writing me articles instead spending all your time on here slagging off at each other? Quote Link to comment Share on other sites More sharing options...
Caryl Posted January 28, 2009 Report Share Posted January 28, 2009 Besides, I don't think being one eyed is rare :lol: Quote Link to comment Share on other sites More sharing options...
alanmin4304 Posted January 28, 2009 Report Share Posted January 28, 2009 Not if you live in Canterbury. Quote Link to comment Share on other sites More sharing options...
Navarre Posted January 28, 2009 Report Share Posted January 28, 2009 So apart from speaking in outer cantabrian...I can poke fun at cantabs cause I come from the west coast...and if anyone makes fun of that Ill hit them with auntie mums banjo....just what would you like an article on Zev? RBBB and the simularities to LBBB or a VPB, maybe APBs and AICDs, what its like to have an IABP inserted maybe...how about Cardiomyopathy and the incidence of related RBBBS? (Can anyone guess I was a CCU nurse...lol) Just wondering...besides My wheelchairs faster than Alans so I am at no risk...lol Navarre Quote Link to comment Share on other sites More sharing options...
Zev Posted January 28, 2009 Report Share Posted January 28, 2009 I was referring to Barrie and Alan, Nav, but if you want to write an article for the NZKA newsletter, you are most welcome. Quote Link to comment Share on other sites More sharing options...
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