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.

Sunday, February 28, 2016

Finding Your Way Through Medicare Benefits Is Worse Than Driving In Pittsburgh

And it's more serious and the consequences of a wrong decision can be deadly.

Pittsburgh has always been a difficult city for me to navigate. The roads don't go straight, there are three rivers that can disorient you, mountains block the view of landmarks, and people there are kind to give directions, but their directions can be wrong when they try to direct you beyond the neighborhoods they know.   Once I even spent hours being lost because a street sign was turned and I went down the wrong road.  That's frustrating, wasteful, and dangerous, but I always manage to get home.

Families dealing with ALS have to navigate choices every day.  I've always said that I would never second-guess the choices they make because their options are never good.  They rely on the maps and road signs and directions supplied by others to help them find their way through the winding roads in a speeding car on a course that never takes them where they want to go.

Their choices matter.  They can literally be a matter of life of death.  If you are spending the kids' college funds trying to keep up with the demands of ALS, you may make some choices that you never would have considered before the ALS.  If you are losing your home and your spouse has lost a paying job for caregiving, the options that you weigh are bad versus worse.

If people with ALS get bad directions, that is a problem. But it's not just another problem. It's a life-and-death serious problem.  Please take a look this analysis done by a woman with ALS whose son also has ALS.  The second section of that document tells us that people don't always get the correct advice.  There are existing benefits that many never hear about.  That's outrageous.  People are making life-and-death decisions here!

Please consider the petition and chime in if you agree that there is no room for "Oops!"  This must be fixed. Now. Just like a turned street sign, it's not that hard to fix if you just do it.

Thursday, February 25, 2016

They Were Only Separated By 1.8 Miles, Yet They Were A World Apart Today

Today there were simultaneous events of huge importance to those trying to speed up access to therapies for ALS.

The Senate Hearing on Connecting Patients to New and Potential Life-Saving Treatments started at the exact moment that the White House Precision Medicine Summit convened.

Boy, were they ever worlds apart.

I had great expectations for the Senate Hearing.  I know a number of people took time to write informed letters to that Committee on better paths to FDA approval and the concept of risk versus benefit with ALS.

What we got was an infomercial for Right to Try Laws, and not a very informative one at that.  You see, the FDA wasn't even there.  If they weren't invited, then shame on the Committee.  If they didn't show up, then shame on the FDA.  Either way, it was disrespectful to the many who took time to submit testimony.  It was maddening enough that the February 25, 2013, FDA ALS Hearing turned out to be nothing more than a dog and pony show.  Three years later we only got the dog.  No pony.  What a disappointment on one end of Pennsylvania Avenue.  We honestly have had far superior discourse on Right to Try and other access mechanisms on the Diane Rehm Show.  She remembers to include the FDA in the discussion.

On the other end of Pennsylvania Avenue we had substance and commanding arguments for change.  Many familiar faces from Medicine X spoke to their rare disease experiences and the importance of information and precision medicine to address life-threatening conditions.  It's always a treat to hear from Dr. Collins. Then when the President of the United States arrived, he didn't step up to the podium.  He sat in as a contributor on a panel discussion, and he sure hit nails on the head when he chimed in.  The information silos must go in healthcare and in research.  The regulatory processes that gave us access to penicillin don't work for today's methods and needs. People should own their own data and be able to share them, and technology providers should enable that.  I only wish that more ALS researchers were paying attention.

It was a bad day at one end of Pennsylvania Avenue and a great day at the other.  I'm thankful for those who led and contributed to the #precisionmedicine summit!  And today made me extra proud to have been a MedX e-patient scholar.  Medicine X rocked the White House today.

Monday, February 22, 2016

Time To Speak Up and #CutRedTape !

The United States Senate Committee on Homeland Security and Governmental Affairs is having a hearing on Thursday, February 25, on "Connecting Patients to New and Potential Life Saving Treatments."

It is significant that this committee's hashtag is #CutRedTape !

You are encouraged to submit testimony to the Committee via Josh McLeod .  Even one or two sentences on the topic will help.

My submitted comments follow:
February 20, 2016

Senator Ron Johnson
Chairman Senate Committee on Homeland Security and Governmental Affairs
328 Hart Senate Office Building
Washington, DC 20510

Regarding the February 25 Hearing – Connecting Patients to New and Potential Life Saving Treatments

Dear Chairman Johnson,
Three years ago to the day of this hearing, the FDA conducted an all-day hearing on ALS.  Dozens of people with ALS and caregivers made a difficult trip to Silver Spring to testify.  Dozens of scientists and organizational representatives testified, too.  It was a day when FDA officials sat face-to-face with dying people who were begging for the right to take some risks.  It was a day when caregivers gave the FDA some concrete suggestions for changing the drug approval process to save their loved ones.  It was a day when a mother of a young man with ALS asked that this not turn out to be a dog-and-pony show.  Three years later, it is clear that it was nothing more than a dog-and-pony show. 
Three years. 20,000 American funerals later.  A half million global funerals later.  We all deserved more than a dog-and-pony show. 
I realize that the FDA has a huge responsibility to keep Americans safe. I appreciate that.  They would rightly feel blood on their hands if something were approved that did more harm than good.  Why don't they feel the blood on their hands today when people die from ALS, protected to death from experimental drugs?  Why don't they feel the blood on their hands today when people with ALS die from the FDA-approved morphine that makes them more "comfortable" in death? 
A basketball game is played differently in the last 60 seconds, especially when you're behind.  The last two minutes of a football game can be a magnificent display of adapting to the situation.  Yet our game-planners for drug access and approval have one playbook.  Today the drug approval process for a simple therapy for a relatively healthy child is substantially the same as for a possible drug for that child's parent dying from ALS.  No Hail-Marys are allowed for that child's Mom or Dad. That's just wrong. 
I personally think that Right-to-Try laws are not the answer.  We need a strong FDA at the center of drug development.  We shouldn't be building networks of drug access that only work for people of substantial means.  Yet those Right-to-Try laws have brought an important conversation to this hearing, and I am grateful for that. 
The Legislative Branch has provided the FDA with a path of Accelerated Approval that is designed to let them change the game plan for terminal, unmet-need diseases.  Why doesn't the FDA use it for ALS?  Is it liability?  Is it concern over payers (which I don't believe is the responsibility of the FDA)?  What is the problem?   
And please don't try to tell us that Expanded Access Programs are the answer.  They simply aren't viable when the entire market for a new drug is the unmet-need disease and the science is dreadfully expensive.  They don't work for ALS.  We need to encourage drug developers, not discourage them. 
We learned at that FDA hearing three years ago that drug developers are frustrated because they don't get to collaborate with the FDA.  They submit. The submission is accepted or rejected. If it's the latter, they have to start over.  Are drug developers afraid to propose new ideas for fear they will be rejected?  
I'm a Boomer.  I'm old enough to remember when we all had access to drugs that had just been tested for safety but not for efficacy.  As an adult today blessed with good health, I appreciate the FDA changes of the 1960s that require efficacy testing of the drugs my doctor prescribes. But as the daughter of a woman lost to ALS, I also know that she should have been given a chance to try something -- something that may or may not have helped her.  Something she could have accepted with eyes wide open about risk.  Something that could have advanced the science more quickly for another mother. 
Last year Gregg Doyel, a talented sports journalist for the Indianapolis Star, wrote a column about his friend, Maureen, who was dying from ALS.  She was a beautiful human being.  She was a mother and wife.  She wanted access to try something.  She wanted a chance at a Hail Mary.  Gregg's article ended with some words that I hope stick with everyone in this hearing room.  Actually, I hope they sting, too.  -- "For god's sake, you coldhearted bureaucrats, they're dying."

Saturday, February 13, 2016

Here A Registry, There A Registry, Everywhere A Registry - Your Tax Dollars In Action

Imagine the taxpayer revolt if two different government-funded projects built two huge new, expensive, duplicate highways that were completely parallel... and then we had to pay extra to figure out how to hook them together.

We have an ALS Registry built by the CDC and funded by us, the American taxpayers.

We have a separate CReATe project largely underwritten by the NIH and funded by us, the American taxpayers.

And then we American taxpayers had to pay to have a brochure written to try to explain away the difference:

How is CReATe Connect different from the National ALS Registry? 
While CReATe Connect is part of the RDCRN Contact Registry, it is quite distinct from the National ALS Registry that is maintained by the U.S. Centers for Disease Control and Prevention (CDC). CReATe Connect is not meant to compete with the National ALS Registry, but rather to work alongside it. By facilitating direct communication between physicians/scientists and patients with ALS and related diseases, CReATe Connect will help to advance the goals of the National ALS Registry. 
It is important to understand that participation in CReATe Connect does not mean that you have also enrolled in the National ALS Registry. The registries are different and information in CReATe Connect is not shared with the National ALS Registry. 
If you are a person with ALS, we encourage you to sign up for both registries. To enroll in the National ALS Registry, visit the CDC’s ALS Registry website at

Sure they're different, just like our two expensive, redundant highways are different.  That doesn't make them smart.  That doesn't make them right.  That doesn't make them patient-centric.  That doesn't make them good use of the American taxpayers' funds.

This is absurd.  The above rationalization is absurd.  And we're paying for it.