HSCT and Cystinuria

For those of you that don't know, I have had two main medical issues throughout my life.  CIDP, the problem for which I was successfully treated with HSCT back in 2012 and cystinuria.  A disease that means you get lots and lots of kidney stones.

Anyway, a few times I have been asked the question "Did HSCT also work for cystinuria too?"  A reasonable question ask but what is the answer?

The short answer is no.

The long answer in no.

Ok, ok that is a little facetious of me so I will elaborate.  When I was looking for new treatments for my ailments there were always two voices in my head.  First, the cold and logical part of my brain that asks for facts and questions the scientific theory.  The second is the voice driven by emotion.  A voice that clings to hope and is fuelled by desperation.

The question is, which one to listen to?  The answer is both.  When I first heard of HSCT I got very excited.  I was like a kid in a candy store that had just found the best chocolate bar in the world ever.  I then shared this news with my doctors who were much more sceptical.  Logic dictated that I should give up now as my doctors knew an awful lot more than I did.  But I was right to listen to my emotional side which told me to carry on.

However, I then had to listen to my logical side.  Ask myself questions like "What is the medical rationale behind this?" "What have the studies to date proven?" "What has come of the patients before me?"  In all three counts the answer was positive so I decided to go ahead and made what was absolutely the right decision.

But what has this to do with cystinuria?  The brain was ticking over at the time and I did ask myself "Could this help my cystinuria?"  My emotional brain wanted it to but my logical brain new the answer.  There was no medical or scientific rationale saying it would work.  There was absolutely no reason to think it so no studies had been done and nobody had been before me.  But still emotional Andy kept saying "but maybe..." I was going to have the treatment anyway

Unfortunately, logical Andy was right.  Since HSCT my CIDP has all but gone but I still have kidney stones.  In the last four years I have had six surgeries for stones and I'm sure there will be more to come.  So to my fellow cystinurics, unfortunately this is not the answer no matter how much we wish it was but I'd also say don't give up looking.  Keep listening to that emotional side that wants to find the answer.  There is a better treatment out there, dare I even say cure? And it will take both the logical and emotional voices in our heads to find it.

Stay well:)

What can stop you dead in your tracks?

Ok, I know, there are plenty of answers.  An anvil on the head road runner style could do it, but let's be a little serious.  What is orange, about five millimetres long and can stop you in you tracks?

If you are one of my fellow cystinuria friends you probably guessed it after reading the title.  If not and you're still struggling with the answer here is a picture of it.

Yes, if you haven't guessed already it is a kidney stone.  And although small and insignificant by size can cause a hell of a lot of pain and grief.  Basically, they grow in the kidney through a process of crystallisation.  Occasionally they fall out and cause a blockage arresting the natural flow of urine from the kidney to the bladder.  This causes pressure in the kidney which leads to excruciating pain.  

Eventually the stone passes into the bladder and then out into the open air during urination.  A question I get a lot is does that hurt.  Really, not nearly as much as when it blocks the kidney, if at all.  But the pain whilst the stone blocks the kidney is debilitating.  It can stop you dead in your tracks.  I have felt really quite productive this year too.  But a kidney stone will put a stop to that.  After I dosed myself up on pain killers I felt capable of nothing accept keeping my spot on the couch warm.

I think I have been lucky though.  Ever since my kidney op in April I have been passing a small stone every two to three weeks which is probably just residuals from the procedure but they have not caused me any problems.  I guess my luck just ran out.  The important thing is that I'm all better now.  Stay well:)

A Big One

OK, I admit.  It has been a while since my last post.  But for good reason.  I have been really busy.  I have been making good headway with my book that I told you all about last time and I have been really busy with some other things too.  I would love to share them all with you but not now.  All in good time:)

Being busy has also given me a heap to write about and it is all good.  I am really excited about the remainder of this year so I will keep you posted.  But what to write about now?  Well, if I stuck I can always return to my favourite subject.  Me.  I'll give you a wrap of my latest kidney op.

But before then I have something else to share.  This is post number 400!  And I have been writing it for over three years now.  I hope you have all enjoyed reading.

Well, wrapping up my kidney surgery.  I got the stent out under local this time which wasn't great but to get an anaesthetist to come in would have meant another week.  I had to weigh up the pros and cons and decided that being awake for the procedure wasn't as bad as a week with a stent.  FYI, stents suck.

It all went quite well though.  I did have a small problem afterwards though.  I was having some pain and irritation in the down stairs department and I thought I might have a UTI, which is reasonably common after kidney surgery.  So I went to the doc and he agreed and put me on antibiotics.  A day later I passed a couple of small kidney stones that were probably remnants of my kidney surgery.

Well it's nice to be through it. Until next time, stay well:)

All Gone Well

Well, I must apologise.  I said I would write to let you all know how I went from my surgery within 48 hours.  It has now been three days since I woke up from my forced unconsciousness and as of yet I have failed to write anything.  If you were worried, I am sorry but the good news is that everything went well and I am well on the road to recovery.

There are a few things that I didn’t really like about the procedure though.  First, as I mentioned in an earlier post, I went to a hospital that I had never been to before and although I was perfectly happy with the hygiene, cleanliness and quality of the hospital from a medical point of view it was no where near the best I had been to.

It was all the little things.  Being a much older hospital all the corridors were very narrow.  100 years ago when the hospital was built the trolley beds were much narrower so to fit bed through was easier and didn’t require as much room.  These days the average bed is much wider and therefore requires more room.  So much so that two beds could not fit down one corridor.  This would be even more problematic if people left wheel chairs, IV poles etc down the way.  When I went for my morning walk (on the only morning I was there) it felt more like an obstacle course than a hospital ward.

Second, the plumbing.  There were no mixer taps so the temperature of the water was either hot or cold.  To get a mix you had to fill the sink up.  The other problem with the plumbing was that the old pipes made a lot of noise.

Third, the food.  Now hospitals, along with schools and airlines have very poor food but in recent times the food at all locations has markedly improved.  Unfortunately, not here.  But at least it was only one night.  Lastly, my biggest complaint.  There was no WiFi!!!!!

However, if I had to go back there I probably would as there is a great deal more to hospital treatment than the little fluffy extras to a hospital.  The staff were pretty good, and I am very comfortable with my doctor and this limits the number of available hospitals.  I guess that I could try and convince my urologist to change his list of hospitals but I think that would be a very hard get.

Thinking about my whole experience I do remember a post I wrote recently about how I found it hard to recall my three week hospital visit in Chicago.  In the middle of my hospital visit at the Freemasons I could recall that my experience was really similar to my last kidney stone outing but before I went in I recalled it as not nearly being so bad.  I think that the mind does play tricks on ones self in order to protect itself from mental trauma.  However, even in the middle of all of it I still think that the intervention is a small price to pay to be stone free.

There is one thing that I really find more annoying than others though, and that is urinary stents.  All the medical professionals say they don’t hurt.  I hate to burst their bubble, but they’re wrong.  You see, a stent basically ensures that swelling doesn’t seal the ureter blocking the kidney.  The problem is that although the stent will bypass potential swelling, it also bypasses a valve that prevents urine from washing back into the kidney.  So when pressure in the bladder increases (Such as when you urinate) urine floods back into the kidney causing pain.  And when you have as much scar tissue in your kidney as I do it hurts even more.  However, it is better than a blockage so it is a necessary evil and just means that I have to take some pain medication to counter which also comes with its own set of problems such as drowsiness etc…

Well, that is it for me.  The stent comes out on Tuesday which is only two days away.  Until then, stay wellJ

Back to Hospital

Well, I have just got back from a wonderful two week break in the Gold Coast with the family which was great.  However, I know I am firmly back to reality as tomorrow I am back to hospital to have my kidney stone removed.

Now I just want to make a few points here.  First, this is nothing to do with the stem cell transplant I had last year.  This is a completely different disorder.  The HSCT process has been and continues to be a complete success.  Second, it is nothing to really be worried about as I am not.  My fellow cystinurics would know that unfortunately this is routine which is a good and bad thing.  Bad because it is routine. Good because I know exactly what to expect and I have come to fully accept it as part of life.

It has been so routine for me that I have gone about my everyday life in such a way that I have all but forgotten about it.  It is now almost 7.00pm and I still haven't packed yet.  I really am simply concerned about what I am going to eat for my final meal (as I am nil by mouth from midnight) and finishing this blog.

Now some may consider this a no no, but I do it anyway and that is tonight I'll stay up really late so tomorrow I am tired.  Why?  Well I am going to sleep because of the anaesthetic tomorrow anyway and I'll probably doze all afternoon.  If I sleep well tonight I'll be awake alight tomorrow night as the anaesthetic all but wears off.  That is really boring as there is little to do during the middle of the night in hospital.

Well, feel free to wish me luck.  I'll be posting in the next 48 hours to let you know how I went.  Stay well:)

Following my own Rules

Now as you all know, I'm back in the house with the big red cross next month to have my kidney stone removed.  It is something that I have done before and I will most probably have to do again so I can pretty safely say that I know what I am in for and what to expect.  In the past I have thoroughly researched the procedure, equipment used and the doctor performing the job.  However, there is one variable that I am not familiar with and that is the hospital I am going to.

I know, I know.  It is hard to believe there is a hospital south of Queensland that I haven't had the pleasure of booking in to for a short visit but there is one and I've found it!  The hospital in question is The Epworth Freemasons Hospital in East Melbourne.  Now for anyone living in Melbourne the name Epworth is not a strange one.  The Epworth Hospital (original campus) in Richmond is one of the oldest and best known hospitals in the area.

What many people do not know is that Epworth Healthcare has over ten facilities in the greater Melbourne area.  One of these hospitals, the Epworth Eastern, I have visited on a number of occasions. My last three kidney surgeries have all been there and I also had my tonsils out at that hospital.  My positive experience with the hospital and the overall good name of Epworth makes me feel comfortable that the Freemasons will be just as good.

However, even though they share a name they are completely different campuses and therefore I personally feel it prudent to be diligent about my research into the hospital.  After all, the Epworth Eastern is very shiny and new having only opened in 2005.  It is purpose built with all the state of the art equipment.  The Freemasons was opened in 1937, however it didn't become part of Epworth Healthcare until 2006.  So their background and culture would have been quite different from the start.

I consider this really important.  As a self proclaimed "professional patient", I have one rule that I think is paramount.  Take charge of your own health care.  Make sure you know about what is wrong with you, your treatment options, the doctors treating you and of course the facility you receive treatment at.

I guess the big question is then, "How do I go about searching information about the hospital?"  Well,  I think it is quite individual in nature.  You have to satisfy yourself that you feel confident and safe at the hospital.  So first, I look at the website of the hospital.  You can get a good idea of the size, culture and operation of the hospital here.  Freemasons has about 230 beds and marks one of its specialties as urology.  So that is a tick in my book.  There is also a CCU and an ICU so if the you know what hits the large spinning thing, I know that this hospital is equipped to look after me.  Second, a hospitals own website is not exactly going to publish what they are not doing properly and scandals they might be involved in, so it is good to search local news etc.

Fortunately, there was nothing there.  But my investigation isn't over yet.  Every hospital has slightly different procedures and therefore require different things from you.  At the very least it is handy to know the admitting procedure and where you need to go.  If you know that you can help mitigate some of the stress on what can be a highly stressful day.

Now there is probably one little question niggling away at your mind.  Why am I going to a different hospital?  Well unlike many health care systems around the world, it is not uncommon for a doctor in Australia to have operating rights at more than one hospital.  In fact, it is not uncommon for doctors to be on the roster at as many as five or six hospitals.  The Epworth Eastern was probably the least frequented hospital in my urologists schedule, and in an attempt to consolidate his workload it only made sense for him to drop this one from his schedule.

So there you have it.  If you are interested in having a sticky beak at Freemasons hospital, I have provided the link below:-

Freemasons Hospital

And yes, if you are wondering, it is the hospital they use for filming in the Australian drama TV series "Offspring".  Stay well:)

It's all come crashing down......

Just when everything seems to be tracking along nicely, some bad news strikes and I am plunged back into the world of hospitals and medical procedures once again.  All my fellow CIDPers and HSCTers are probably waiting for me to talk about that horrible "R" word (relapse), but no.  Fortunately not.  Everything is going swimmingly in that respect.  I am referring to a kidney stone that has been quietly growing.

It is not as bad as it sounds.  I picked up the stone in a routine X-ray I had last week and it is not that big yet.  It is only about 8mm but I still booked into see the urologist as sooner or later something has got to be done about it.  On the positive side, only one kidney is affected, it has been 18 months since my last surgical intervention and I have no residual pain.  Any of my fellow cystinuric readers will be quite jealous.

I wasn't surprised I had a kidney stone.  Every cystinuric patient expects them on a regular basis.  I was actually surprised it wasn't bigger.  When I had my Stem Cell Transplant I effectively dropped my fluid intake to less than 500ml/day and most of my medications I wasn't taking as I felt so nauseous.  My old nephrologist would have been furious as he didn't care about any of my other conditions as long as I got no stones.

So where to from here?  I had a good frank discussion with my urologist (which was a little boring as it was almost the same as last time I saw him) about when to intervene surgically.  We agreed that the ideal time was when the stone was at a size small enough to be treated with one surgery but not large enough to warrant two interventions.  Basically put, the fewer number of surgeries over a lifetime, the better.

However, we both agreed that that time was about now, but there was no immediate hurry.  So we slotted a date into the diary that suited me best and away we go.  FYI that date is the 18th of April.  Until then, it's just focusing on nerve and muscle regeneration and getting my fitness to the level I want it to be at.  Until next time, stay well:)

Good news for cystinurics

Dr David Goldfarb put this link up on Facebook a week or so ago and personally I think it is the most exciting development in cystinuria since thiola.  However people, let's not get ahead of ourselves, this has yet to go through the proper trials.  This is a new drug that hopefully will decrease stone size but increase the number of kidney stones.  But with more smaller stones they would be able to treat them more effectively and they would be easier to pass.  Here is the article.  It is at the bottom of page six.  Stay well:)

http://www.newsandviews-digital.com/newsandviews/20120304?pg=6#pg6

How much does it cost?

In this case just five minutes.  I have really been putting the hammer down recently on my blog about my CIDP and the really exciting advances being made in stem cell research.  But I have two really nasty rare diseases that effect me.  The other one is cystinuria and I must admit, I haven't been giving it the time it deserves recently.

And there are a few reasons for this.  FIrst, I am right in the middle of the throws of my very own stem cell transplant that I hope will be the answer.  As this is happening I am constantly researching this treatment, which gives me a great deal to write about.

Second, this procedure could be the answer to autoimmune diseases in general, and if not, it has been a giant leap in the right direction.  What is happening is really exciting and I believe that even if it doesn't work for me, the fact that it has worked for many others is proof enough that the procedure is definitely worth while.

But while cystinuria is taking a back seat it is certainly not forgotten.  If you ask me which one is worse the genuine answer is they are probable about the same.  They are very different which makes it hard to compare.  Most days I'd say CIDP by a nose because it is in your face everyday from the moment you brush your teeth in the morning, to the time you put your pyjamas on at night.  But when I'm symptomatic with a stone, cystinuria is way worse.  The pain, nausea, discomfort, lack of sleep makes it almost unbearable.

And I'm sure cystinuria will have its day in the sun.  The research is happening.  Scientists are making giant leaps forward every year with genetic research.  Maybe the answer will come from stem cells, maybe not.  I don't know.  What I do know is that eventually the answer will come, the question is when?

So what can cystinurics do now.  I believe that there are many factors that increase the priority of which disease gets priority and the research dollars, but the main two are prevalence and severity.  The nastiest diseases and the most common ones normally get the attention but there are other smaller factors.  Now, we cannot change the severity of the disease.  It is what it is.  And so is the prevalence.  But we can change the perception of prevalence.

And I don't mean by dishonest or underhanded means.  I mean as cystinurics we should make sure we put up our hands and are counted.  Not doing so is like being a political activist who doesn't vote.  At the end of the day you can scream and yell as loud as you want you still won't be heard.

So how can cystinurics be heard.  It is simple, sign up to the cystinuria registry.  The link is below:-

http://medicine.med.nyu.edu/nephrology/research/current/join+the+cystinuria+registry

I must admit, I have been slack in doing so, I have only just done it.  But I have done it and that is what matters.  Doing so will not only provide doctors, researchers and scientists with valuable information, it will also give us a voice.  If you have cystinuria do this to help yourself plus everyone else with cystinuria.  Until next time, stay well:)

Don't Always Believe what you Read on the Internet

To get a better idea about this post, may I suggest you read a post I wrote called "Damn Mesna".  To cut a long story short, during the chemotherapy they wanted to give me a drug called Mesna.  I found an article that said Mesna increases cystine output in the urine, cystine being the key culprit of my kidney disorder.  I had already taken the drug once during the mobilisation process and they wanted me to take it again during the chemo prior to the transplant.

This had worried me a bit so I decided to do a little more investigation.  My first step was to talk to the doctors here in Chicago about it and they came up with the idea of having a catheter and regular bladder washes during the chemo.  I still had that niggling feeling in the back of my mind and as I had already taken the drug once I wanted to check that there were no long term problems so I investigated further.

My next stop was to contact a New York based nephrologist by the name of Dr David Goldfarb.  I'll digress for a minute just to say that Dr Goldfarb is one of the most inspirational doctors I know and one of the leading authorities on cystinuria in the world.  He has never formally treated me so the fact that he will give me an aster to my question is greatly appreciated.  And he doesn't just do it for me he will do it for anyone who suffers from cystinuria.

So I put my concerns to him in writing and it turns out that Mesna has actually been used in a very few cases to treat cystinuria.  Yes there is evidence out there to suggest that mesna can actually decrease cystine levels in the urine.  He even sent me an article to support this.  So their is one thing left for me to do.  Do I believe Dr Goldfarb and the original unsolicited internet article I originally read?

Yeah, it's a no brainer for me.  I'm really glad I dug a little deeper.  It was really nice to get to the bottom of it and put my mind at rest.   I do believe that the internet is a great source of information and as patients it is a great place to start.  But, the information you get from it should be corroborated and scrutinised.  At the very least, you should run anything you find out past your doctor or health care provider before you make any decisions.  It is also a good reminder that you can't always believe what you read on the internet.  Stay well:)

When you're up you're up

Yes, just like the Grand Old Duke of aYork, "When they were up they were up" but on the same token "when they were down they were down".  And at the moment, aside from losing my hair I feel really great.  And honestly, I don't care about that.  More than half the guys I know are experiencing some form of baldness as we all descend into middle age.  So realistically I just feel like one of the lads.  To the women I know that are going through (or have been through) this process I really admire the courage you have all displayed.  I understand how much harder this must be for you all.

OK, so you probably want to know why I titled this post the way I have.  Simply, right now I'm up.  After chemo mobilisation I was down, but certainly not down and out.  But while I'm up I am going to make the most of it.  Right now I feel really great and with both my cystinuria and CIDP under control I feel like I need to get out there and live a little.  After all, even though most people with cystinuria or CIDP (like me) have to organise their schedule around their doctors appointments etc... I still firmly believe that life is for living and while I am "up" I am going to make the most of it.

And I had a splendid day.

I am not telling you all this to gloat or be nasty.  When you have a chronic disease you have to make the most of every good day you have and that is precisely what I intended.  So in the morning I went to theArt Institute of Chicago.  Where as most museums I have been to I have managed to crawl myself through at a snails pace the Art Institute not so.

I think of a scene in the movie "Pretty Woman", when Richard Gere is talking about opera where he basically says you love it or you don't.  If you don't love it, you can grow to have a wonderful appreciation of it but you cannot ever love it.

Now, don't get me wrong I certainly enjoy art, and I truly appreciate the work and the meaning behind each piece.  But if it doesn't tell me a story or I don't get it straight away I am not interested.  To me each piece has to have meaning or tell me something I didn't already know.  I guess that is why I love museums.  To quote Spock from Star Trek, they are "fascinating".  So although I breezed through the place much quicker than I expected I really did appreciate and enjoy it although I did not love it.  My favourite exhibits would have been the indigenous American history artwork and the Picasso's they had on display.

After that I walked through Millennium Park which was right next door.  I saw some street performance and the Silver Bean.  Which is actually called Cloud Gate but all the native Chicago folk call it the Silver Bean.  I do have pictures, but I can't be bothered to download them right now so I will share them with you next time.  In the evening I went to the Ice Hockey to see the Black Hawks play.  Unfortunately, the got hammered by the Nashville Predators 6 -1.  But it was still fun and I had a good time, which brings me to now.

I do understand that my fun in Chicago will soon be coming to an end as I will be going in to North Western Hospital for my stem cell transplant in just over a week.  But I don't live for my disease, I live for me and in the meantime I'm going to make every good day count.  Stay well:)

Damn Mesna

Ha ha ha.  It's all fun and games until someone gets a catheter.  And when I say catheter I don't mean veinous catheter, I mean urinary catheter.  And by someone I mean me.

When I went in for chemo mobilisation they gave me a bunch of drugs.  It did annoy me a little because I like to know exactly what I am going to be taking so I can research it properly.  And I do remember asking before days before the procedure what they would be giving me.  They told me the chemo agent, the lasix and a bunch of maybe medications, but they did not tell me about the mesna.

Mesna is a drug they give you during chemotherapy to protect your bladder from damage.  I think that they forgot to mention it because the drug is normally very well tolerated and has few side effects and is so routine it hardly justifies a mention.  Never the less, they didn't tell me about the drug and after it had been administered I started my research.

I found out what it was for, how it works, side effects etc.  And they I hit a problem.  Under mechanism of action on the wikipedia page it stated that 'drug also increases the output of urinary cystine'.  Now, for most people that wouldn't mean anything.  For my fellow cystinurics that read my blog you know exactly what I was thinking.  My heart skipped a beat.  I felt like I had cut the blue wire when I should have cut the red.  And if I was aware of the administration of this drug I could have raised my concerns with my doctors well ahead of time.

Just to clarify, my kidney disorder, cystinuria, leads to an abnormally high concentration of cystine in the urine which causes kidney stones.  The last thing one with cystinuria would want to do is take a drug that increased urinary cystine.

Fortunately, during the whole mobilisation process they gave me plenty of fluids so the extra cystine should have been washed out and the effects of the mesna are temporary.  Still, it added an element of stress that I didn't need.

However, they wanted to give me more mesna when I go back to have my stem cells transplanted back to me so I raised the issue with my medical team.  The good news is that I don't have to have the mesna.  The bad news is I have to have a urinary catheter and bladder washes whilst I have the chemotherapy.  Oh well, it is a small price to pay I guess.  On the plus side, with all the fluids and lasix they will give me the bladder will be in overdrive.  A catheter will negate the regular five minute trip to the toilet.

On another note I am pleased to say that I have managed to harvest the required 2 million stem cells.  I am not sure what the final count is yet, but they were expecting 20 million and my mid count was 8.7 million.  So all there is now is hopefully my very last IVIG which is tomorrow, and they I get two weeks off until the main event.  Until then, stay well:)

A defining moment

You know what?  I was diagnosed with cystinuria in 1994.  In 2000 I was diagnosed with CIDP.  So technically I have suffered from those diseases for 18 and 12 years respectively.  In that time, aside from my brother (who also suffers from cystinuria) I have not met one other person with either of the illnesses that I have.  I guess that is one of the reasons that they both fall into the category of rare diseases.

But that all changed last Wednesday when I met Keith.  Keith is a great bloke who has just finished going through the stem cell transplant process for CIDP and is currently on his way home for a little r and r.  His story is quite compelling.  He was in the airforce, and about 9 years ago in the post 9/11 era anthrax was all the scare.  As an enlisted man he was made to have the vaccine, which probably caused his CIDP.

Meeting someone for the very first time that had the same disease that I did was as the title suggests, a defining moment.  Having a rare disease can be a really lonely and scary experience.  And although I have conversed with many fellow sufferers on the internet, there is something about meeting someone with the same disease as you that makes you feel a little less alone and makes the disease feel a little less scary.

Keith and I had a good chat about a lot of things from our backgrounds to the disease we share.  What was really great for me was to talk to him about his experience with his SCT, although I do think that some of it may be a little unrealistic as I got the impression that Keith breezed through the process much easier than most people in the program.  Still, it gave me a great deal of confidence.

Well Keith, it was a real pleasure meeting you.  Best of luck with the recovery, I look forward to staying in touch and seeing how you are doing.  I was thinking too, if you are struggling to find something to do in your post CIDP life, maybe you could try for a spot in the US team to the London olympics;)

Until next time everyone, stay well:)

A new blogger

Normally I only refer to another blog if the subject matter written within one of their posts is something that I would like to make comment on or I feel deserves further discussion.  This blog is different because I don't feel like I need to make comment on it at the moment, but I do feel that I do need to give this blog a plug.

Why, because I am drawn to it as the author and myself share the same disease and I am yet to find another person that is writing about it.  That disease is cystinuria.  Although I would never wish the disease on anyone else, it is nice to read the story of another cystinuric.  It gives you a feeling of community to realise that you are not the only poor sod that has this disease.

I know that everyone has their demons to face but cystinuria can make you feel very alone as can any rare disease.  To know you are not alone is quite warm and comforting.  In my whole life I have never met anyone with either of the same rare diseases that I have with the exception of my brother who also has cystinuria and that is because of the whole genetic thing.

So happy blogging Simon, I for one will enjoy reading whatever ramblings spill from your mind onto your keyboard.  I will also take this opportunity to tell you that my daughter loved your bunny video but she did say you sounded like the Fat Controller off Thomas the Tank Engine.  Until next time, stay well:)

Oh yeah, his blog is called "My Life, My Health and My Loves".

Great Job, but Still a Way to Go.....

Doctors and scientists alike should all be applauded, and give themselves a huge pat on the back.  The advancements that have been made in medical science over the years have been staggering.  We have made huge improvements in keeping people alive and improving the quality of live for millions.  But the improvements we have made are also what could undo us in the future.  Let me elaborate.

I should be dead.  No really if we had the same medicine we had a century ago I would have probably died when I was twenty years old because I would have had an immovable kidneys stone that would have eventually sent my kidney necrotic.  From there the toxic build up would have shut down all the other organs in my body until I would finally succumb to a slow and painful death.

However, the quality of surgeries to remove kidney stones has improved so much that a stone can be removed without even breaking the skin, keeping the kidney working and the patient alive.  Now not only  am I alive I have been able to get married and more importantly, have children.  Although my kids have not been burdened with my cursed affliction, they will carry it.  In the past the disease would have ended with me, but now it is even more prevalent because I have passed on my genetic code, as have many others.

Another example of where this is again obvious is with cystic fibrosis.  Cystic fibrosis (CF) like cystinuria is recessive genetic disorder.  But that is pretty much where the similarities end.  CF is a disease that causes a thick mucus layer in the lungs and digestive tract.  In years gone by patients would have been lucky to see adulthood with the life expectancy of a CF  sufferer in 1980 being just 16 years old.  Today that figure is around 40.

Not only has medical science managed to stretch out the life expectancy of CF sufferers by 24 years, but they have managed to dramatically improve the quality of life of those patients too.  If you take a look at a young 22 year old by the name of Nathan Charles you’ll see what I mean.

Nathan Charles plays rugby for the Wallabies, the Australian rugby union national side.  To achieve such a position makes him one of the top elite athletes in the country.  Once upon a time he would have had to worry about living outside of his teens, now he can enjoy a wonderful quality of life.

So medical science, take your hat off.  Take a bow.  What has been achieved has been remarkable, but we are creating a problem.

As the quality of lives and life expectancy of people with genetic disorders increases, so does their propensity to procreate and pass on their genetic abnormalities.  Basically, what we will see in the future is a larger percentage of people who are afflicted by genetic disorders and also those carrying the defective genes.  We need to come up with an answer.

I guess we could go back to good old Darwinism, stop treating the sick and let nature weed them out.  But that would be truly barbaric.  It is in our nature to help those around us.  It is why we built hospitals in the first place and why we have a multi billion dollar medical industry.  It is also unworkable.  I mean, try putting a Darwinism policy through any legislature in the western world, and I guarantee you the only thing that will die is the political career of proposing politician.

People with genetic abnormalities could be banned from breeding.  Personally I would take great offence to this.  It is human nature to want to procreate, and I have.  Both my kids carry one of my defective genes, but should I have been banned from reproducing?  It is a persons right to choose to start a family, and everyone takes a risk of having a sick child.  For people like me that risk might be slightly greater, but my wife and I got medical advice before we conceived and although my kids are carriers they are not going to have my disease.


So what is the solution?  Well, I don't know if you have seen in the news about a month ago monkeys were born from stem cells.  The following article from Medical News Today outlines what they did.  


http://www.medicalnewstoday.com/articles/240036.php

So how will this help?  Effectively what we will be able to do is cut and paste strands from the DNA sequence in order to create a 'hybrid' individual from two or more embryos.  If we know that a parent will be passing on a genetic abnormality to a child, in the embryonic stage we will be able to cut out that DNA strand and replace it with a healthy one.  As this will effect the DNA at the rawest level it will remove the defect altogether.

Now this will not help the current living and breathing among us who are carrying genetic defects but it could help our unborn offspring.  I know a few parents of children with genetic defects who would give an arm and a leg to go back in time and cure their children before they were born.

I know that this is controversial research, but personally I am very excited.  I personally think that allowing our children to have happier and healthier lives is well worth it.  Of course, the large pharmaceutical companies probably won'[t like it as there will be less sick people being born with whom they can peddle their drugs to.  Until next time, stay well:)

It Makes my Blood Boil

I asked myself recently if I thought I'd ever run out of things to blog about.  Quite simply, no.  Not for a long time anyway.  Constantly I am getting inspiration from my own experiences, reading medical journals or other peoples blogs and with my stem cell transplant looming, my posts will become more of a diary.  But one source of material I find I recently use is what people talk about on the medical forums.


One topic that consistently comes up in the cystinuria forum is people with kidney stones being refused pain medication because they are being labeled as 'drug seekers'.  And that makes me angry.  If you've ever had a kidney stone you would know why.  They hurt.  They hurt a lot.  Being a man I cannot compare, but I'm told the pain is equivalent to child birth.


Now I get that kidney stones are an easy symptom for 'drug seekers' to mimic.  I get that people with chronic kidney pain may become addicted as a result.  But to leave people in that sort of pain is barbaric and unforgivable.  I will elaborate.


Nine out of ten times these people who suffer from cystinuria can prove they have a chronic kidney condition that gives them an insane amount of kidney stones.  Yet, ER and primary care doctors constantly refuse to treat their pain.  My point being that if you can prove you have a disorder like this you should be treated.  In my hey day, before I was receiving proper care for my kidney disease (And I freely admit that was my fault) I grew a one centimeter stone in three months.


And even though I admit that a chronic kidney stone patient could become addicted to pain meds (because of the nature of the pain treatment) I believe that the pros and cons of addiction to pain relief for a bona fide medical condition need to be weighed up and addiction, or feeding addiction is a small price to pay to make sure a patient is pain free.


If there are any doctors that a reading this and would like to weigh in I would love to hear.  I would also like to take the opportunity to say that I have never been addicted to pain meds.  Whilst I believe some people have a penchant for them, I am the opposite.  I don't like the way they make me feel and when the pain goes away naturally I enjoy seeing the back of them.  I'd also like to add that I have never found myself being denied meds on suspicion I might be a 'drug seeker'.


I'm going to finish with a story from the cystinuria facebook forum.  A doctor told a lady with stone pain that it was similar to mild menstrual cramp and analgesic pain meds weren't required.  Well if that's the case I'm glad I'm not a girl.  Severe cramps must be agony.


Next time I'll get back talking about my SCT.  Until then, stay well:)

A BIG Shout Out to the Mums and Dads!

Having a chronic condition really sucks.  Nobody would choose to have one, and when you are having a bad day with it nothing can possibly seem worse.  But if I think about it, there is one thing that I think would be worse, and that is having a child afflicted by one of the many horrible conditions.

On forums for both CIDP and cystinuria there are parents that post about the terrible ordeals of their children and my heart goes out to them.  It is not fair for any one person to have to deal with things like this, let alone a child.

I have a couple of stories of my own that have just given me a glimpse as to what these parents must go through.  When my daughter was just two she was complaining of a stomach ache.  I suddenly must have turned as white as a sheet when I thought she might possibly be having a kidney stone.  My whole world stopped.  I had my first kidney stone at the age of 18 and that was bad enough, how was a 2 year old going to cope?  Luckily for me, it was just a stomach ache.  Some baby panadol and one ridiculously disgusting and soiled nappy later she was fine.

The second time was when I took my son who was four at the time to have a mole removed.  For an adult they would normally do it in the doctors surgical suite, but for a child it was done under general anaesthesia at a hospital.  He had no idea of what was going on.  I'm sure that in his young inquisitive mind it was simply a fun adventure.

But when they put him to sleep and he went limp in my arms I really started to worry almost to the point of panic.  At that point I wanted it to be me who was going under the knife.  I wished it was me.  Instead I had the luxury of going to the waiting room with nothing but rubbishy day time TV and a bunch of aged women's magazines for company.

After 20 minutes (which seemed like hours) he was in recovery, and five minutes later he was up and about wanting to explore the hospital like nothing had ever happened.  It was sheer relief and I was so glad he was ok.

During these times I felt a mix of emotions, among them were worry and guilt.  For a parent it is only natural to worry.  But that can also be a good thing.  When it comes to carers, there is nobody quite as committed or strong as a worried parent.  Their resolve is unwavering, their dedication, immovable.  A parent looking after their child is one of the strongest things imaginable, and that strength needs to be praised and applauded.

However, the guilt is not needed.  The flight of these brave children is nothing more than a cruel twist of fate.  Although you might think as a parent you might have been able to do something to avoid this, you are wrong.  All you can do is do the best job you can for your child.  In other words, just keep on doing what you are doing.

So this one goes out to the mums and dads of sick kids and the wonderful jobs you are doing.  Remember, you are not alone and there are many people thinking of you.  Until next time, stay well:)

Rare Diseases

Do you suffer from a rare disease.  Well let me tell you from personal experience, it can feel pretty lonely. I suffer from two rare diseases, CIDP and cystinuria.  If you discount the online community do you know how many people I have met with CIDP?  Easy, nada, nil, zilch, zero.  Yes, a big fat doughnut!  For cystinuria, the answer is one.  That is my brother and genetics would have played a big part in that.

But you compare all rare diseases, there are an awful lot of them.  Did you know that 350 million people suffer from a rare disease worldwide, which is about 5% of the population or 1 in 20 people.  If all the people afflicted by a rare disease lived in one country, it would be the third most populated country in the world, and would have more people living there than the USA.

However, there is a group that specialise in drawing attention to and funding rare diseases.  They are trying to raise awareness by getting 1 million people to like their facebook page.  You could help me and 349,999,999 other people by doing so.  Please forward the message on to all your friends too.  The link is here:

Facebook page

You can learn more by visiting their website here:

Global Genes Project

Until next time, stay well:)

Letter to Julia

I am not a fan of Julia Gillard.  I think she turned her back on her principles and broke a bunch of election promises just to form government and become prime minister.

However, I did think she might make some really great improvements to the health system.  Unfortunately, as a person who is heavily entrenched in the Australian health system as a patient I can make this comment on what has changed.  Nothing.

I got my back up again this week when I went to purchase my Urocit K to slow the production of my kidney stones.  It is the best drug I have taken for my stones bar none.  Yet it is not covered by the PBS.  Why, I have no idea.  It should be, and is just one of the long list of things she has not done.

Ironically, I could get drugs like thiola or penicillamine covered that are toxic and dangerous, but the most effective drug I have ever taken that is not dangerous is not covered.  I will put this frustration into a letter for the PM when I have done more research.  I will keep you posted.  Until then, stay well:)

Last letter I wrote to Julia

This is what it feels like!

Ha ha ha.  More jokes at the expense of kidney stone patients:)