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:)

Why so hard?

I made a new Facebook friend this week.  A lady from Canberra who had an HSCT for MS about a year ago.  We have chatted briefly, and I find these conversations with all patient in this or similar situations both inspiring and informative.  But we both had a big whinge about one thing.  Why is it so hard to get into a program for a stem cell transplant?  In Australia the medical fraternity turns its nose up at the procedure which I think is sad.  In this post I will give reasons why I believe this to be the case, and why I believe these reasons to be unfounded.  I will also give some tips on what we as patients can do to combat this.

First I'd like to tell you a story that my new Facebook friend told me.  The patient slated to be the next HSCT recipient after her (who also suffered from  MS) found that bureaucracy and procedure was effectively stone walling her from receiving the treatment.  The hospital that she was going to had ethical concerns and had to run it past their ethics committee. After a year and marked deterioration she finally got the nod.  Unfortunately, a week before she was due to start treatment she passed away.  So congratulations to the administrators and bureaucrats in the hospital concerned for killing the patient.  At least you did it ethically.  (For all the pen pushing paperwork loving hospital administrators out there that are slightly detached from the real world, that was sarcasm)  THe other really annoying thing about the wait and feet dragging is that the evidence shows that the earlier one get an HSCT, the more positive the outcome, which brings me on to my first point:-

• With my current crop of doctors in Australia, they probably wouldn't even consider an HSCT until I was in a wheel chair and needed a ventilator.  Now, as I've said before, your body can repair damaged cells, but it cannot replace destroyed ones.  If I was completely wheel chair bound my nerves would probably be completely destroyed and unrecoverable.  My meagre improvement would inspire no confidence in the doctors to try again with other patients.  Hey, I'm willing to give it a go, and I don't want to wait I want it now while I still have a chance at a reasonable recovery.

• It is perceived as dangerous.  Well, so is going skiing, eating raw fish, driving a car or smoking and we can do any of those things when ever we like.  It is not a full blown bone marrow transplant which requires far more chemo and radiation therapy and also normally a donor which adds much more danger to the process.  The most common used protocol for HSCT for autoimmune disease carries a mortality rate of <1%.  Besides, shouldn't that be my decision?  I get that I might die, even worse I could end up in a wheel chair in constant pain and needing too be fed through a tube for the rest of my life.  Still, I am willing to take the risk.

• It's not embryonic stem cells.  Embryonic stem cell research is wrapped in controversy, and although I am a supporter, I fully understand why.  But that is a debate for another time.  HSCT has nothing to do with embryonics.  The process is autologous.  Meaning the donor and recipient are the same person, so unless we go back in time 37 odd years and harvest my stem cells when I was but a wee blastocyst, the ethical implications simply do not apply.  Adult stem cells are a completely different ball game.

• The snake oil salesmen ruin it for everyone.  There are dozens of bogus clinics and individuals out there peddling the promise of stem cells for nothing more than their own financial gain.  Check out the following link.  CBS snake oil.  One of the problems with this piece is that it does not refer in any way shape or form to the bonafide doctors and hospitals, such as doctor Burt, that are genuinely using the technology to help people.  The technology is out there, but it needs to be used right.  The snake oil salesmen ruin it for everyone.

• Alright, let me be a conspiracy theorist here for a second.  Big pharmaceuticals don't want this technology to come to light.  Why?  It is much more profitable to have sick people needing a bucket load of drugs everyday rather than being "cured" by a one time treatment and not needing any more drugs.  People with autoimmune diseases take a lot of expensive medications, many of which are ineffective.  But the pharmaceutical companies prefer this because it is much more profitable, and by identifying the snake oil salesmen, and discrediting them to discredit the whole stem cell movement.  The CBS piece I linked to above says that there is no known stem cell therapy for MS. This simply isn't true.  Check this article out.  To me, the CBS piece stinks of the pharmaceutical companies trying to discredit the stem cell movement through the back door.

So as patients how can we promote stem cell treatments?  First, challenge your doctor(s).  You may feel like you're banging your head against a brick wall, but if enough people are persistent enough the doctors will not be able to ignore it.  They will have to do their research and learn the truth about stem cells.

Second, do your research.  There are genuine bonafide institutions out there offering legitimate stem cell solutions.  I believe 100% that Dr Burt's studies at North Western is one of them.  However, you need to keep an open mind so you can see through the charlatans.  Try to keep an open mind.  When you are sick it is easy to cling to anyone that is offering hope.  The key is to weed out those focusing on false hope and those offering real hope.  Use your common sense.  Chances are if the clinic is situated on a shopping strip between a subway and a seven eleven, it is probably bogus.  Look for genuine studies published in reputable medical publications to corroborate the institution you are looking at.

I could ramble on about this subject for ages, so I'll think I will stop there.  Until next time, stay well:)

How can we finish the job?

In the blog post titled "Great job but still a way to go", my friend Wendy made a good point.  Because of the risk to the pharmaceutical industry not wanting to put an end to genetic illness (because it will hurt their bottom line) it will never happen.

First before I continue I would just like to address the stem cell debate because in this case, I don't think that the same moral implications necessarily apply and here is why.  Now what I alluded to in the post mentioned above does fall under the category of embryonic stem cell research, but in this different.  Most embryonic stem cell research results in the destruction of the embryo.  In this case the embryo is not destroyed, but changed so that an individual can live a better healthier life.

Now we have got that cleared up we can start talking about the way to stop the pharmaceuticals from arresting this kind of research.  Well first, the research takes money.  Now a lot of the research done around the world is funded by pharmaceutical companies because they feel they can make some money out of it.

Now we can't make the pharmaceuticals fund research that is going to send them broke.  It would be like asking a worker to pay for the privilege of doing your job, so where do we get the money from?  Well we have to ask who stands to benefit from this.  Now the companies that are doing the research stand to benefit, but it is hard to find private investors who are willing to take a gamble on a business that realistically have a financial, viable product for at least thirty years.

One more viable option would be a conglomeration of insurance companies which give money to research projects that find it hard to find funding.  Why would they do this?  Well, sick people cost insurance companies money.  To decrease the number of sick people on the planet would be extremely profitable for insurance companies.

The last option is governments.  Personally, I believe that governments have a social responsibility to try and make their countries as healthy as possible without sacrificing the freedom of individuals.  Also, a healthier population means less drain on the state health care system, less people on welfare and more people out in the workforce paying tax.  Wow, that could mean a lot of money.  Unfortunately, politicians have a knack of not seeing past the next election.  As patients and citizens and voters we could help by showing appreciation to politicians for taking a long term view.

Another obstacle would be pharmaceutical companies lobbying to stall the research.  Personally I think that is horribly unethical but hey, it's not a perfect world.  Now, the pharmaceutical companies would find it hard to take the pro life stance (see paragraph 2) and the moral high ground would stand with the pro researchers.  Anyway, this battle isn't going to be fought just yet and don't get too excited.  There is still a long long way to go.  Until next time, stay well:)

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:)

1 Month to Go

It is only one month to go until I board a plane to what will potentially be the biggest adventure I have embarked upon since I started my business in 2003.  And how am I feeling?  Although the milestone is significant I haven't really paid much attention to it.  To me, it really isn't much different to how I felt yesterday or how I'll feel tomorrow, although I am aware of it.

At the moment I am just concentrating on having a lovely family holiday.  We are off to the beach today which the kids are looking forward to.  I have decided that I put preparation for Chicago on ice until I get back to Melbourne on the weekend.  Until next time, stay well:)

Hope for the future

Recently, a friend posted this link on facebook:-

Stem cells reverse heart disease

Previously, it was believed that when heart muscle died it stayed dead, but it has been proven that heart muscle can be grown back using adult stem cells.  This is revolutionary and flies in the face of conventional thinking.

And it got me thinking.  Thinking about many things, but one in particular.  And that was if this could work no a heart, could it work on another organ?  Yes, selfishly I was thinking about the kidney, but in my defence, you do have to look after yourself.

So I started to do some research.  Again, the conventional wisdom states that you can't grow new nephrons (the tubules that filter the blood, producing urine.)  But that is what they thought of the heart, and now they are growing new heart muscle.

So I wanted to see if there was anywhere that they had managed to isolate kidney stem cell and use them to grow new nephrons.  And yes! They have!.....  But only in zebrafish.  Apparently, adult kidney stem cells disappear in mammals around birth.  So what are the options in generating a workable treatment for kidney disease patients?

Well the way I see it there are three options:

1. Find adult stem cells in the kidney.  Just because nobody has found them yet doesn't mean they are not there.  The whole body replaces itself every 60 days.  Something must be there to replace kidney cells.  Scientists believe in the possibility too, or they wouldn't still be looking.
2. Manipulate other adult stem cells to behave like adult kidney stem cells.  Researchers have tried using bone marrow stem cells to repair heart muscle with some success.  The potential is there for kidneys too.
3. Embryonic stem cells.  However, the research here has a long way to go and is fraught with ethical issues and opposition

There was one other thing I was quite encouraged about with the zebrafish study.  Stem cells were harvested from one fish and successfully donated to another.  This means that the stem cells from the donor, that carry the donors DNA would now be working in the host.

So hypothetically, if I got a donation of kidney stem cells from a donor that didn't have cystinuria, my kidney would cease to filter cysteine and my disease would subside (theoretically).  There would be potential complications though, as with any allergenic transplant.  Rejection for example.

However, fellow cystinurics and kidney disease sufferers.  Don't start celebrating just yet, a workable treatment is still years away before it will even make it to trial.  At least we know that the research is moving in the right direction and one day, there will be a workable treatment that will be effective and give us some normality to our lives, and even if it is not there for us, it could be there for our children.  Until next time, stay well:)

Ps. here is the article on the fish research study:-

Adult Kidney Stem Cells Found in Fish

The Stem Cell Debate

If you asked me about my opinion on stem cells six months ago I would have given you a luke warm politically correct answer that would have hinted on my thoughts, but would have done so in a way that would certainly not have stimulated a firey debate.  Why?  Because I really did not prioritise it as one of my most important issues.

However, since stem cells have become a hot topic for me personally, the issue has stepped up in my view.  Now the hot topic that everyone is talking about is embryonic stem cell research.  Just to clarify, the procedure I am having is an adult autologous hematopoietic stem cell transplant.  Hematopoietic meaning from the blood, adult meaning from an adult donor and autologous meaning donating to myself.  The reason I tell you this is so you know that I do not stand to benefit directly from an embryonic stem cell transplant.

I'll start by making two statements.  First, incase you haven't guessed, I am an supporter of embryonic stem cell research.  Second, I really hope to get your opinions on the subject, especially if you are anti embryonic stem cell research, because it is only through debate that we can move forward with the issue.

As always, this post is becoming much larger than I suspected so I am just going to give you one argument.  Is the source of an embryonic stem cell part of a life form?  There are many definitions of life, from the theological to the biological.  Depending on what you believe will influence on your definition.

Embryonic stem cells are extracted from blastocysts which is a structure formed in the early stages of embryogenesis. The blastocysts we would use are formed in vitro (outside of the womb) and therefore cannot grow into a foetus in their current environment.  As the cells involved are yet to grow into their final tissue, there is no brain or nerves.  Therefore they cannot think or feel.  So they are not life, just the potential to be life.

Every ovum is the the potential be life, so is every sperm.  Does that mean that every unused sperm and ovum is destruction of life?  I guess it all comes down to where you draw the line of where life begins.  For me, it is when one can think or feel.

As I stated earlier,  I will welcome your arguments on both sides of the debate.  All I ask is that you keep it civil.  Until next time, stay well:)