Proactive

Dr Burt is a hard man to tie down just to chew the fat about stuff.  He is always on the go and busy as a man can be.  So when I had my bone marrow biopsy done I decided that it was a good time to tie him down and ask a him a couple of questions.  After all it is not like he could just up and leave half way through performing a medical procedure.

Now I have a list of questions as long as your arm for Dr Burt, but I thought I would just start with one of them as time was of the essence and it is easy to be distracted when you have someone drilling a hole in your butt.

So what was my first question?  Before I tell you I think it best to set a bit of a background as to how I got to want to ask this.  If you hadn't noticed I have blogged a lot recently about Rare Diseases and the Global Genes Project.  There are so many rare diseases out there that are severely debilitating and life changing.  Now I have two of them, but I feel that there are others out there that also suffer and there is very little out there to help them.  Now I want to help and I feel I might have found a way to help a few.  Now there are over 7000 rare diseases and I don't ever expect to be able to help all of them, but I do think there I might be able to help some and you've got to start somewhere right?

Enter Dr Burt.  His programs helps people with all kinds of autoimmune diseases and I am lucky enough to make it onto his CIDP program.  Now one of the issues that faces Dr Burt is that although the treatment is the similar for all autoimmune disorders, each disease needs its own protocol and each disease needs its own FDA approval to make it to trial.  That is a lot of work, needless bureaucracy and paperwork.

Now I felt that some people were missing out on getting in on a trial because they had a really rare disease that was autoimmune in nature but so rare it did not make it onto the protocol.  So I talked to Dr Burt about protocols for the really rare autoimmune diseases and in our short discussion we came up with idea of having one protocol for all the extremely super rare autoimmune diseases.  Independently, these diseases are too obscure for any real research into treatment options, but together, they could gain admittance onto Dr Burt's trial and potentially give them a treatment that could make a real difference in their lives.

I am a big fan of what Dr Burt has done/is doing.  Results so far have been impressive, and the more diseases that can be covered by his study and the more people that enter the study under all protocols, the faster they can get this treatment to be a part of mainstream medicine the better for all sufferers.  So in order to help Dr Burt I said I would compile a list of rare autoimmune diseases for him so he could get a start on it.

Now of course not every autoimmune disease can qualify.  If there is too much evidence that the disease is not autoimmune or the disease is not aggressive enough, it might not qualify.  But that is not for me or you to decide,  Dr Burt and his team, the ethics committee at North Western University and the FDA will make that decision.  But in order to put this list together I need your help.  The nature of a rare disease means that I probably haven't heard of it, so if you or someone you know suffers from an autoimmune disease please let me know what it is by leaving a comment on this post.

Please do not leave a message for me if your disease is on one of the lists below (If it is your disease is already on my radar) or your disease is not autoimmune or suspected to be autoimmune.  The lists are as follows:-

Diseases already covered by Dr Burt's trial-

1. Antiphospholipid Syndrome
2. Autoimmune Bullous Skin Disorders
3. Autoimmune-Relared Retinopaty
4. CIDP
5. Crohn's Disease
6. Devic's Disease
7. Idiopathic Inflammatory Myopathy Diseases
8. Leukocyte Adhesion Deficiency Type 1
9. Morphea
10. Multiple Sclerosis
11. Myasthenia Gravis
12. Optic Neuropathy
13. Primary Biliary Cirrhosis
14. Pulmonary Fibrosis
15. Rheumatoid Arthritis
16. Sarcoidosis
17. Scleroderma
18. Systemic Lupus Erythematosus
19. Systemic Necrotizing Vasculitis
20. Type 1 Diabetes
21. Critical Limb Ischemia

Other Autoimmune Diseases (courtesy of CIDPUSA)

1. Acute disseminated encephalomyelitis (ADEM) 
2. Alzheimers 
3. Alopecia areata
4. Ankylosing spondylitis
5. Aneurysms 
6. Arthritis
7. Antiphospholipid Syndrome  
8. Addison’s Disease
9. Autoimmune polyendocrinopathy
10. Hemolytic Anemia 
11. Inner Ear Disease 
12. Lymphoproliferative  Syndrome (ALPS)
13. Thrombocytopenic Purpura (ATP)
14. Autism or Autistic disorder 
15. Hemolytic anemia
16. Hepatitis
17. Oophoritis
18. Behçet's disease
19. Bullous Pemphigoid
20. Cardiomyopathy
21. Crohn's disease
22. Chronic Fatigue Syndrome
23. Dermatomyositis
24. Diabetes mellitus, type 1
25. Epilepsy Autoimmune
26. Kawasaki's Disease
27. Glomerulonephritis
28. Graves' disease
29. Goodpasture's syndrome
30. Guillain-Barré syndrome
31. Inflammatory bowel disease
32. Lupus nephritis
33. Multiple sclerosis
34. Myasthenia gravis
35. Myocarditis
36. Parkinson diseases
37. PANDAS
38. Pemphigus/pemphigoid
39. Pernicious anemia
40. Polyarteritis nodosa
41. Polymyositis
42. Primary biliary cirrhosis
43. Psoriasis
44. Relapsing Polychondritis
45. Rheumatic fever
46. Rheumatoid arthritis
47. Sarcoidosis
48. Scleroderma
49. Sjögren's syndrome
50. Systemic lupus erythematosus
51. Thyroiditis
52. Ulcerative colitis
53. Uveitis
54. Vitiligo
55. Wegener's granulomatosis
56. Wilsons Disease

The following links may be useful to you:-

www.cidpusa.org

www.stemcell-immunotherapy.org

http://www.clinicaltrials.gov

Well, today is world rare disease day.  Today is all about creating awareness for people with rare diseases.  And what do we want?  Money?  No.  Commitment?  No.  Right now all we want is for you to like their Facebook page so we can draw attention to the cause of all rare diseases.  Take it from me, it can feel pretty lonely having a rare disease, but we are not alone and here is why:-

There are over 7000 diseases in the rare disease database.

350 million people suffer from a rare disease.

That's 1 in 20 or 5% of the world population.

If sufferers lived in one country it would be the 3rd largest country in the world, bigger than the USA.

Less than 5% of rare diseases have any therapies or treatments.

75% of sufferers are children.

With so many sufferers it is time we made a stand and were noticed.  By liking their Facebook page you can help make a statement to governments, insurance companies, pharmaceutical companies, medical researchers etc...  That these people are not alone and cannot be ignored.  You can like the Facebook page by clicking on the link below.  It will take you 30 seconds.

http://www.facebook.com/globalgenesproject

Stay well:)

5 days to go.

I feel like the next month or two will be full of countdowns.  At the moment I am counting down to my departure for Chicago.  (In case you didn't realise it is now just five days.)  Once I get to Chicago I will then be counting down to mobilisation, then harvesting and finally, transplantation.

Funnily enough, I am normally not that big on countdowns.  Some people countdown to everything.  Going on holidays, a special event or the start of the footy season.  My kids love to countdown the days to Christmas or their birthday.  For me, normally the day comes when it comes but this is different.  I don't know whether it is the nerves, the anticipation, the worry or the excitement but I am counting this one down.  I have been counting it down for the last month.

The other thing that I have done that is a little different is I have already started packing.  Normally packing for me is strictly a night before affair.  Sometimes even the day of but this time the packing started over a week ago.  However, saying that I am certainly not organised.  In the bathroom I have a miscellaneous pile of toiletries and medications awaiting sorting, in the bedroom is a random assortment of accessories I need to take with me and in the study I have all my medical documents, test results and x-rays that need packing.

But at least I am getting ready and that is something that will be pleasing my super organised wife who would normally be screaming at me by now to pull my finger out.  Well that is almost it for today.  I have so much to do and right now all I can think about is all the stuff I have queuing up to write about in my blog.  I think it will have to wait for a while though as for the next month or two I will be chronicling my experiences in Chicago.

Also, in case you didn't know, world rare disease day is on February 29th.  In order to support this day and the 350 million people world wide please visit their facebook page and like it.  We are after 1 million likes.  I have also featured in their stories of hope and inspiration which you can read here.  Until next time, stay well:)

Rare Project

Check it out!  Stay well:)

http://rareproject.org/2012/02/11/patient-stories-of-hope-and-inspiration-6/

1 Million People for RARE Diseases

RARE disease day is on the 29th of February, which is now just a meagre 30 days away, and the first big push for 1 Million for RARE is starting with the blog hop.  Directly below this you will find the RARE logo.  The link will take you directly to their facebook site.  We are after 1 Million people to like their page.

http://www.facebook.com/globalgenesproject

So why should you like their page?  Here are some facts for you to think about:

There are over 7000 diseases in the rare disease database.

350 million people suffer from a rare disease.

That's 1 in 20 or 5% of the world population.

If sufferers lived in one country it would be the 3rd largest country in the world, bigger than the USA.

Less than 5% of rare diseases have any therapies or treatments.

75% of sufferers are children.

If you pick one of the rare diseases, there is a good chance that you have never heard of it, or know anyone that suffers from it.  But you will know some of the diseases on the list and maybe even sufferers. Below is a bunch of links to other blogs of people who suffer from a rare disease, or care for those who do.  Each person has a heartfelt and compelling story.  It makes you wonder what you can do to help?  Well now you can do something.  You can simply like their facebook page.  In case you are interested, you can read my story here.

Alone, each disease seems quite insignificant.  Its cry for help not just drowned out be the 7000 other rare diseases, but the high profile diseases that many are afflicted with.  Well, it is time for a change.  With the current advancements in research, the mapping of the human genetic code and the treatments that have sprouted hence, there is no reason why we cannot develop treatments to turn the tide on these diseases.  To improve peoples quality of life.  To save lives.  Instead of everyone making their own noise, we can all club together to sing in harmony.  A resounding chorus of 350 million people that cannot be ignored.

Ironically, there are some treatments out there that could be used to treat other disorders, it is simply that nobody has thought to do it.  I have one example that has effected me personally.

There is a doctor practising out of North Western Hospital in Chicago.  His name is Richard Burt.  Years ago he was working with bone marrow transplant patients and he noticed that patients post treatment were being given their childhood inoculations all over again.  Why?  Because effectively their immune system had been reset.  So he had the wonderful idea that if a stem cell transplant reset the immune system, why couldn't it be used to treat an autoimmune disease?

And that is where I am at.  One of my rare conditions, CIDP, is an auto immune disease, and on the 18th of February I am headed off to Chicago to hopefully be accepted into Dr Burts' trial.  Now at the moment, this is a trial, not an accepted treatment, but patients have touted it is as a cure even though the doctors involved are a little more reserved.  I will be blogging about the whole experience right here, on Shakes and Stones.

The point is stem cell transplants have been around for forty years and this treatment is still not available as a main stream treatment for auto immune diseases.  In the mean time people have suffered and died.  So what other treatments are out there that could potentially be used for other diseases that we don't know about?  Unless we draw attention to all rare diseases collectively we will never know.  So like the facebook page.  350 million people will thank you for it.  Stay well:)

Broad Cause

I stand for the Global Genes Project to help people with rare diseases.  I stand for improving the quality of life of all people who are sick.  You can help support me by going to my Broad Cause page and sharing it.

If you like you can also find me on technorati, or you can follow me on twitter @shakesandstones.  If you are really nice to me to you can add me as a friend on facebook or you can join my circles at google+.  Just send me a note saying you are following my blog.

But if you do one thing today, support me supporting the Global Genes Project at Broad Cause.  Stay well:)

Global Genes Project

Well 2011 is drawing to a close and I have a great idea to help you finish 2011 on a good note.  Click on the link below and then click 'like' to help support the 'Global Genes Project'.  It will take you less than 10 seconds, and yes.  That is a challenge!

http://www.facebook.com/globalgenesproject

For more information you can see my previous post here.  Stay well:)

Global Genes Project

This is a message that I am going to put on facebook, send to all my e-mail contacts and promote over google plus. It is a cause I would really like to draw attention to, and I hope that the content of the message will explain why. I have kept it generic so anyone can cut and paste it and send it to their address book, facebook contacts etc. I think it could potentially help a lot of people.

Do you know anyone with a rare disease? The chances are you do. You probably look at them and thank your lucky stars that it is them, not you. You probably want to help but don't think you can because the condition is so rare. You also feel that the condition is so rare that it won't happen to you. Well, here are some facts to give you something to think about:

1. There are over 7000 diseases in the rare disease database.
2. 350 million people suffer from a rare disease.
3. That's 1 in 20 or 5% of the world population.
4. If sufferers lived in one country it would be the 3rd largest country in the world, bigger than the USA.
5. Less than 5% of rare diseases have any therapies or treatments.
6. 75% of sufferers are children.

Individually, having one of these diseases can feel very lonely, but as a collective, sufferers may not feel so isolated. The Global Genes Project exists to raise awareness for those children and their families affected by rare disease, educate the world about genetics and it's link to rare disease, and fund innovative 'in their lifetime' research and therapy development.

Right now, The Global Genes Project is on a campaign to spread awareness about rare diseases.  They don't want your money, they just want you to like their facebook page.  More to the point, they want one million people to like their facebook page.  You can do so by clicking on the following link:

http://www.facebook.com/globalgenesproject

With your help we can make a difference to change the quality of life to 350 million people world wide.  So you can help.  It is up to you!

Thank you.

Please feel free to copy this message to your friends, family and acquaintances.  The more the better.  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:)