ALS Advocacy

ALS Advocacy
Lou Gehrig's Disease - Motor Neuron Disease - Amyotrophic Lateral Sclerosis
Thought it had been cured by now? Still no known cause. Still no cure. Still quickly fatal. Still outrageous.

Friday, January 31, 2014

A Roundtable That Omits Patients Isn't Really Round

A new report on a critical topic, "Opportunities for Improving Therapy Development in ALS: Roundtable Discussion Summary," was published this week.

http://www.alsa.org/news/archive/opportunities-for-improving.html

The lead authors were two prominent ALS scientists and  "The ALS Clinical Trials Working Group."

Digging into the paper itself, we found the membership of "The ALS Clinical Trials Working Group."

The ALS Clinical Trials Working Group
  1. Lucie Bruijn, ALS Association;
  2. Merit Cudkowicz, Massachusetts General Hospital;
  3.  Barbara Bierer, Brigham and Women’s Hospital;
  4. Jesse Cedarbaum, Bristol-Myers Squibb;
  5. Chris Coffey, University of Iowa;
  6. Ronald Farkas, Food and Drug Administration;
  7. Daniela Grasso, Massachusetts General Hospital;
  8. Petra Kauffman, National Institute of Neurological Disorders and Stroke;
  9. Marianne Kearney, Massachusetts General Hospital;
  10. Doug Kerr, Biogen Idec;
  11. Karl Kieburtz, University of Rochester Medical Center;
  12. Stephen Kolb, ALS advocate;
  13. Eric Macklin, Massachusetts General Hospital;
  14. Timothy Miller, Washington University, St.Louis;
  15. Thomas Murray, The Hastings Center;
  16. John O’Gorman, Biogen Idec;
  17. Patricia O’Rouke, Partners Healthcare;
  18. John Ravits, University of California, San Diego;
  19. Jeffrey Rothstein, Johns Hopkins University;
  20. Jeremy Shefner, SUNY Upstate Medical University;
  21. Ira Shoulson, Georgetown University

Unless I'm missing something, it appears that they forgot to include anyone who actually has ALS.

The table wasn't really round, was it?


Thursday, January 30, 2014

Let The Sunshine, Let The Sunshine In, The Sunshine In

Now that you're humming a hit from the 1960s...

Yesterday I read a journal article related to ALS clinical trials.  In the department of unintended consequences, the end of the article caught me totally off guard.

One of the authors, a long-time head scientist at an ALS charity, had disclosures to share under "Declarations of Interest," showing consulting (I'm assuming paid consulting) for three pharmaceutical companies.  Those declarations certainly don't include any dates, and they don't tell you whether it was a $25 lunch meeting a decade ago or a $2,500 speaking fee or a $25,000 consulting fee last year.

In recent years there has been sunshine (both voluntary and regulatory) shed on pharmaceutical industry payments to physicians.  Is there any light shining on such payments to the many non-physician medical researchers whose work is funded by our charitable donations?

I think there should be.  That would be easy enough for not-for-profits to do voluntarily and would certainly be pertinent information for donors and people with ALS to know. Everyone would win.

Wednesday, January 29, 2014

There Was Life Before ALS

A friend once told me that their family seemed to gauge all time relative to her husband's heart attack.  They moved after the heart attack.  A child graduated from high school before the heart attack.  A significant life event can become a "time fulcrum."  An ALS diagnosis certainly becomes such a fulcrum.  Unfortunately, to doctors and researchers, it is more of a "time chasm."

A person diagnosed with ALS starts seeing new doctors, often in a new clinic setting, with fresh new charts and lots of new tests.  Even old primary care physicians are often left for new ones who are more familiar with ALS or are in the new clinic network.  As those old ties are broken, so are the ties to a rich medical history which could well hold clues about ALS.

Worse yet, if a person with ALS is lucky enough to be accepted into a clinical trial, more chasms appear.  There are clues that already exist on both sides of the big chasm that are ignored.  The clinical trial gathers its own information and doesn't look back.

These time-and-information chasms can and should be bridged.  There was life before ALS.  There was a medical history before ALS.  There is information.  ALS is a mysterious disease. Why ignore the clues?





Thursday, January 23, 2014

Could We Just Put A Mother In Charge Of Clinical Trials, Please?

At the beginning of every summer vacation, we kids liked to get new stuff for our summer play needs.  A nice fresh baseball, a basketball, ...

If I asked for a new baseball and my brother had already been granted the request and bought one, do you think I got one, too?  Of course not.  We could share.

If he asked for a new basketball and I already had bought one, do you think he got one for himself?  Of course not.  We could share.

Sure, we had our own gloves and bicycles, but some things just made sense to share.

Today on a webinar, I heard of the promise of MRIs in possibly diagnosing ALS.  It's very preliminary.  I searched clinicaltrials.gov for "amyotrophic and MRI."  There were a few recruiting trials involving MRIs, but all were different in what they were doing or why they were using MRIs.

And I thought wouldn't it be smart of all of those MRIs were available for the other researchers to see.

And then had another thought. Wouldn't it be smart if the thousands of people with ALS who have MRIs in their medical records could simply say, "Share this with researchers." 

Today it seems that we buy a lot of baseballs and basketballs that stay in individuals' closets.  They need to be shared.

We need a mother.

Tuesday, January 14, 2014

Does The "Rare" Word Hold Us Back?

The Perception

Most Americans don't associate themselves with rare things, except perhaps a steak dinner.  We don't have rare coins in the jar of change on the bookcase.  We don't have rare stamps in our desk drawers.  Our dogs aren't rare species.  The vase in the living room is hardly rare.  We dream that the autograph that we collected in fourth grade might someday be rare and valuable, but that never happens.  If you told me that I might have something rare in my home, I would roll my eyes and say, "Dream on."

That "rare" word doesn't project the belief that most of us have that something is possible.  It seems
incredibly unlikely.  It's pretty much impossible to us.

We have better words for those unlikely things that we really believe happen to us -- exceptional, unusual, notable, exclusive, ...  We do believe that unlikely things can and might happen to us.  It's just that we never hear anyone use the word "rare" when they speak of a winning lottery ticket or a particularly talented child.

"Rare" just doesn't impart a sense of possibility to most people.  We need to change that.

The Reality

"Rare" is an important legal designation for diseases, and I understand that. I so wish that they had chosen a different word... and a better definition.  A rare disease is defined as one that "affects fewer than 200,000 Americans."   That definition is normally interpreted as a disease with which there are fewer than 200,000 Americans living at this moment.  It's not a definition that speaks to the likelihood of an American getting a disease.  It does not speak to the possibility of it turning your life upside down.  It speaks to the likelihood of your living with the disease at this moment.

The prevalence-based definition bolsters the perception of rare disease not really being a possibility for most of us.

Think again.  Your odds of getting ALS are high.  Your odds of living with ALS for long are low.  It's a small peer group.  Think about that!

The numbers may fit the definition of a rare disease , but we need make it clear to people that it's not an unlikely disease.  It's not impossible.  It's very possible to affect you and your family.

The upcoming Rare Disease Month should make every American squirm with the real possibilities.

Monday, January 13, 2014

We Are Grateful for the As That Go With Our Qs Regarding Project MinE

During the big ALS symposium in Milano last month, we were engaged in some tweets regarding Project MinE --
 www.projectmine.com

Robbert Jan Stuit @rjstuit of Project MinE was kind enough to respond to some of my tweets and subsequent questions.  His answers are with my questions below.
Thanks for tweeting back this week.

I'm not at all well versed in genetics and have questions (and frankly, concerns based on the uncoordinated information silos we have in the US regarding ALS patient data).

If you do a complete genome sequence on a patient, does that automatically give you everything you need to know when a new ALS gene is discovered? Yes, it does, all information needed is there.

Do you retain tissue for further testing? Yes

Does you work fit together at all with Steve Kolb's C9 project in the US? We do not know about this project.

Will your genetic data stand alone, or will it be possible to add patient background or progression information to each patient's genetic profile? The patient background and progression information is key to have along with the genetic profile.

Do I ask a lot of questions?

I was surprised at the cost.  Something is rattling around in my head that one of the Miami FALS researchers once said that complete genome sequencing could potentially be done on PALS for < 1000 US$.  Perhaps I misunderstood. They price we communicate is currently one of the lowest offered by whole genome sequencing companies as far as we're aware. You might have misunderstood and the other researchers may have referred to 'exome sequencing'...

I feel strongly that we need to have complete, accessible data on each ALS patient including genetic information.  Today we have what amount to scraps of notepaper here and there and everywhere, and nobody can tape Mrs. Smith's information into a cohesive and meaningful resource. We do not collect DNA without all the other information about a patient. We also have several studies ongoing into environmental factors that may cause ALS, see www.als-onderzoek.nl (a Dutch site unfortunately, but Google translate might work...)

Years ago a PALS in the US told me that he felt like he had left tissue all over the country.  Nobody is keeping track in a central place of where the tissue is and what information it has yielded. In Europe we are coordinator of an EU-funded project that focusses on solving exactly this. Many European ALS centers are involved, a website on this project will go live early 2014. The project is called 'SOPHIA'. 

Thanks for any insights.

Thursday, January 9, 2014

The Rolodex - Part IV

The patient story is so important to making ALS real to people.

Get ready, world, because there is a lot more to these ALS patient stories than you may have realized.

These are not passive glimpses into their diaries with tidy "The End" pages.

These are not "Queen For A Day" stories of misery designed to raise compassion for a cause or funding.

These are vital narratives of people's pasts that can set us on a course for change.  These are people who even after their deaths put us at the corner of the past and the future with some pretty clear directions for a better path for tomorrow.

We need to follow them.  Yes, they lead if we pay attention to their whole stories including their ideas and the outrageous circumstances they stood up to.  It's up to us to listen to them -- their ideas, their wisdom -- and forge a better path.  To do less is to miss their whole stories.  Get ready, world.






Monday, January 6, 2014

The Rolodex - Part III

The Rolodex of people I have known with ALS has grown to be huge.

It can teach us some lessons about how we need to speak to the correct numbers correctly.

I don't clean out my Rolodex annually to throw away the cards of those who have died nor do I re-use the cards of those who have died.  If I did, it wouldn't really grow.  It wouldn't be representative of the cumulative loss that ALS has caused.  It would not be respectful.

But... when we permit prevalence to be "the gold standard" (a term used by a major ALS organization) for measuring disease impact, that's exactly what we are doing.  We are only counting people living with ALS at this moment.  We are discarding the deceased.  We are kidding everyone, including ourselves, about the numbers and the impact of ALS.

If we reuse those Rolodex cards so that there is just one card per person living with ALS (as the prevalence metric does), we somehow confuse Mom with the six people who have followed on her card or with the dozens who preceded her.  Ditto with Rob's, Barbara's, Pat's, Ben's, and now Scott's cards.  Those are all distinct, beloved human beings with their own families and friends and talents and contributions.  One card should not be shared.  

And cards should never be discarded.  Ever.

It's time that we learned to explain the impact of ALS and why prevalence (the number living with it at this moment) is a red herring.  ALS has a relatively small prevalence, yet a huge incidence (the number of people who get it).  That's a toxic combination.

Just look at a Rolodex of people with ALS that doesn't toss out or recycle the cards.  It grows painfully and quickly -- more quickly than most people perceive.

Let the conversations begin.

Wednesday, January 1, 2014

The Rolodex - Part II

On Monday Regina Holliday and I corresponded briefly about some logistical details for the Walking Gallery jacket that she was about to paint. In closing I mentioned that I had just received word of the death of yet another of our online ALS advocates.

 Every time I get one of these messages, it's like ALS has sucker-punched us again. It doesn't stop. Over and over they die. Regina graciously asked me if I wanted to include this gentleman in the Rolodex painting that she was still designing. Yes.

Scott Johnson was Grizzly15 on the ALS message boards and @scottcjohnson2 on twitter. Read his tweets. He pushed and prodded for constructive change for vets with ALS and for the ALS Registry. 

Very early on Tuesday morning I woke up to a message from Regina that included the painting.  Number 300 in the Walking Gallery, "The Rolodex,"  was finished.


Wow.  She got it!  There's a lot there.  There's a lot to talk about.

Then yesterday afternoon Regina posted a year-end message in her blog that shed even more light on this remarkable piece --

As I was designing this jacket, Colton (our family friend and 4th grade pupil) asked what was the thing that I was painting.  I told him it was a Rolodex.  He asked, “What is a Rolodex?”  I smiled at this small digital native and explained before computers we kept our business contacts, friends and family’s information in these handy devices. 
As I explained the concept of a Rolodex, I thought of the many years that I would spend the quiet days between Christmas and New Year’ cleaning out old cards and making room for new ones.  I would pull card after card of sales reps who had moved away, friends whose Christmas cards came back “return to sender” and the cards of friends and family who had died. 
I looked at Colton and explained everyone in the Rolodex I was painting died as result of ALS.  He asked me what was ALS.  I explained it was a disease that made it hard to use your muscles.   First walking would be hard to do, then using your hands and then talking.   As the disease continued a patient would talk using their eyes, then finally they would not be able to breathe.  They would descend into the complete silence in the end.
Colton said, “That sounds like a hard way to die.”  I told him we could do something special for these people we lost.  We could tell their story.
I told Colton, “After Fred died I Googled him.  He had only two hits.  One was from the obituary in the paper and one was from American University where he worked.  Then I spent the last 4 years on medical advocacy and speaking about Fred.  Would you like to see how many hits Fred has now?”
Colton nodded yes and his eyes grew big as he looked at the result: Frederick Holliday II PhD had over 6 million hits. 
Online the names from a Rolodex live on.  We get to meet Cathy’s friends and family; Barbara BrennerBetty ColletPat DwyerBen HarrisScott Curtis Johnson and Rob TisonWe see them leave the dusty card and walk into an eternity of advocacy. 
That is my 2013 in the review mirror.  The things we did, the people we met will create ripples in the years to come.  We will never really finish this time in our lives nor truly say goodbye to those we love; this time continues in our hearts and within our digital lives.
Let the conversations begin.