The Inequity of Rare Disease Knows No Boundary

The treatment of people with rare diseases is not just a scientific problem.  In many ways, it is more of a social and political issue.  If we can solve the political problems, the science will follow.  As a world we must unite to give fair treatment to all who suffer from a rare disease.  As individuals or even on a disease-by-disease basis we are rare but together we are strong.  25 million people in the US alone suffer from rare diseases.

Neither is Rare disease a national problem.  Rather, they are a problem that transcends boundaries.  It is true that much of the commercial development for treatments of rare genetic diseases are done in the US.   However, fair treatment of people with rare disease in people throughout the world will help all of our cause.  That is why International Rare Disease Day is so important.  By advocating for fair treatment, we will create an environment where technology and innovation will flourish.  By eliminating the inequities that are suffered by people with rare disease around the world we encourage new investment by the smart people that are working to cure these diseases.

That is why on International Rare Disease Day, I want to support the efforts of my good friend Simon Ibell.  Please take a moment to check out what Simon is doing and help us spread the message:

HEY CANADA, ON FEB. 28TH, BE FAIR TO RARE 

Thanks,
Roy

The Sad Truth About the US Rare Disease Drug Approval Process

 Before I get into the meat of my blog post, I would like to start by saying that I am in no position to endorse any treatment.  I put more faith in the feedback of medical experts, patients and parents who have experience with them.  This post is really more about what I have learned about the flaws in the process of getting approval for treatment of rare diseases.  It is also about what we can do to make them better.

For my son's illness there is no approved treatment.  Parents of Sanfilippo patients, and all rare diseases,  must unite to encourage a rational therapy evaluation process.  We need an approach that allows fast track approval for medications - similar to what is available to AIDS patients.  Rare diseases pose unique challenges because of the variation in the way these diseases affect each person and the challenges with building statistically significant outcome data.


 When we were first found out that our son had elevated urinary GAG levels (a marker for MPS diseases) we assumed he had Hunter Syndrome.  Without treatment, Hunter Syndrome is - like all MPS diseases - an absolutely catastrophic disease.  When I went to the Shire website to research treatments, I saw the following quote regarding the efficicacy of Elaprase:

In a clinical study of 96 patients with Hunter syndrome, weekly treatment with ELAPRASE was shown to improve walking capacity in patients after one year of therapy.

Now, I don't know about you but I can tell you when I found out my son had a life threatening disease, the idea of him walking a little better wasn't a huge comfort.  It was only after speaking to adult patients and talking to our geneticist that I learned their opinion that Elaprase is an amazingly effective as a treatment for MPS II.  Our doctor had even used words like "miracle drug" for Elaprase.   Where the heck was the disconnect??!!!


I was told by my doctor that the FDA required an objective "endpoint" measurement to allow Elaprase to proceed through clinical trials.   For rare diseases, this data is apparently very hard to gather in a meaningful way.  

Since no treatment is approved, Sanfilippo parents are extremely anxious about what options are on the horizon.  The huge turnout by MPS III parents at the LDN World conference proved that to me.  I joked that  parents of children with other MPS diseases were home with their children getting treatment.

MPS III does have solution within the next two years.  Intrathecal enzyme replacement for MPS IIIA will go hopefully into Phase III in 2012.   Zacharon will hopefully produce a new small molecule drug that will address MPS I, II and III. 

The sad truth is applying a general purpose disease policy to rare diseases results in:

• Slowing the time to market of meaningful new drugs
• Discouraging drug companies to invest in rare diseases where approval risk is high

The good news is that this isn't something we have to take on individually.  Dr. Emil Kakkis, the doctor that was made famous by developing an enzyme replacement treatment for MPS I,  has created the Kakkis foundation to do just this.  This wonderful man has funded this foundation largely with his own money.  His message will be come even more powerful if it comes from you.  You see, congress won't necessarily trust industry experts asking for reform but they will listen to you!

Go to the web site for the "Cure the process" campaign and use their automated tools to contact your politicians.  It is super easy, just click "Take Action" and select write your congressman.  The web site will ask your zip code and help you write emails to all of your representatives.  Make sure to add a personal message about your kids, grandkids, relatives and friends.  Doing so will make the message more effective.

Dr. Kakkis is Lobbying Congress to:

1. Establish a new office in the FDA dedicated to rare diseases
2. Devise clinical study approaches specific to rare disease
3. Create a new standard for endpoints that helps rare disease have full access to the accelerated approval pathway

Here is a link to the full text for the Creating Hope Act which will be crucial to pediatric rare diseases. 

I didn't get to see Dr. Kakkis presentation at LDN World, so I watched his YouTube material.  So you don't have to search, I put them the right here for you.  Check them out, it only takes 15 minutes.  They were music to my ears!

Problems and the Law of Expandablity

Problems will expand to fill all the space we give them.  No matter how bad things get, we have to contain them.

It can be easy to look at the challenges we face and feel sorry for ourselves.  We all do it sometimes.  Heck, these days I look back on the things I worried about before my son's diagnosis and realized that I worried about many things that just didn't matter, silly stuff.  I realize now that our fears, anxieties and angers always expand to fill all the space that we give them.

If you are an engineer or scientist, you are familiar with property of expandability of gases.  By definition, a gas always expands to fill its entire container.  Problems are the same way.  I have a feeling that  we are all hardwired to worry a certain amount; that amount might be big or small but not always related to the size of our actual problems.

The moral of the story here is that do our best to put our problems in the smallest possible container we can in our lives.  Unconstrained, those problems will consume the entirety of our being.

We can always look at our situation and say NOW I have real problems.  I still haven't learned my lesson because I am tempted to do that even now. 

My son is three years old and he has been diagnosed with a fatal genetic disorder called Sanfilippo Syndrome.  We have met many new friends in the last month that are enduring the same agony that we face.  Many have it worse.  They have multiple children that have inherited the same genetic defect.

Reed Visting Aziza at School

Thinking more deeply, we are are truly lucky.  Our beautiful daughter Aziza is unaffected.  She is a wonderful sister and has always been so giving to her little brother.  We have always known that he was a demanding child, one that consumed a disproportionate amount of our attention.

This awful disease that is damaging Reed's brain will teach her so many lessons.  Maybe I should learn more from her.  I should learn to savor every moment the way she does.

If you want to real a truly inspiring message, check out Simon Ibell's web site.  He is an adult Hunter Syndrome patient.  Reading his material and talking to him over the last month has help me keep things in perspective.


 

"To laugh is to risk appearing the fool. To weep is to risk appearing sentimental. To reach out for another is to risk exposing our true self. To place our ideas-our dreams-before the crowd is to risk loss. To love is to risk not being loved in return. To hope is to risk despair. To try is to risk failure. To live is to risk dying." ~Anonymous

How to set Team Sanfilippo as Your Ebay Fave

For tonight's installment on the blog, I am going to explain how to set Team Sanfilippo as a favorite charity in Ebay.   If you follow all the steps in tonight's blog, it should take more than 5 minutes and cost you nothing. What it will do is get you all set up to donate in Ebay when you are ready.  No commitment.  How is that for a sales job?

I won't rehash my previous blog introducing the idea but will just touch on why that is a good thing.  Ebay Giving Works allows you to sell items on Ebay and donate the proceeds.  By donating some or all of the sales proceeds for your item, Ebay will:

• Waive some or all of the listing fees (pro-rated by your donation percentage)
• Track your online donations (including cash) and provide you a year-end tax summary
• Give your item extra visibility, helping it sell more easily and for a higher price

All of that sounds great, but where how do you do it?

You get started here:

Team Sanfilippo Ebay Store Page

If you click that link, you should see something like this:

The first thing you need to do is make sure that Team Sanfilippo is saved as a "favorite" charity.  That will make it easy for you to select Team Sanfilippo as the recipient of your donation when you list an item.  I know everyone is really busy but...

The one item that I ask as a favor is that tonight you simply do this one easy step.  I am putting all this effort into the blog and all I am asking for is a click.  Show me some love people!!!

You will need your Ebay user id and password handy because it will ask you to login.

Click here:

Click here to add Team Sanfilippo to your "Favorite" Non-profits on Ebay

 If all went correctly, you should see a screen like this:

Horray! We are your favorite!

If you got this far, then awesome!  You are set to be a charitable giver on Ebay!  Now, let's list an actual item.  I will show you how to do that in the next installation but that can wait one day at least.

Have problems following these steps?  Post a comment and we will get you some help!

Thanks for reading,  

Roy

Want to pitch in right away?  Click the donate button on the top right to donate to Team Sanfilippo through Paypal. 

Previous Post: Why donating through Ebay is so awesome

Next Post in the Series: How do I actually sell an item for charity?

BTW, big shout out to my friends in the MPS III community.  Their "Hope Love Cure" videos have been so moving for me.  You can check them out on YouTube by searching for Hope, Love, Cure. 

I would like to share a few with you.

This is Jonah, this shows you what an early MPS III patient looks like:

These are our friends Hunter and Ciara:

No one should have to live like this.  Take a moment and do just a little to help these kids.

BTW, here are a couple of short videos of my son Reed:

Reed jumping on the trampoline with a sister a couple of months ago.  Before we got his diagnosis:

Here is Reed being a funny guy:

Good Searching for a cure

In fund raising, every dollar counts.  To find the cure for our children we need every bit of help we can get.  We need to ask, "What could I be doing slightly differently to make a difference?"  Tonight's post falls into that category.

Since you are reading this blog I assume you use the Internet,  Everyone that uses the Internet searches for stuff, right?  Yahoo!, Google, Bing, etc.  You know how those companies raise money?  They do it by selling advertisement.  Good Search does the same thing with a small twist.  They will share a fraction of the advertisement with a non-profit of your choice.

Here is the key, in the box below where it says "Who do you GoodSearch for?" you need to put "Team Sanfilippo Foundation"  Given that that's what I care about, I almost forgot to say that.  Seems obvious but I ain't takin' no chances!!

So, just set your home page to Good Search and search away!!!  Is it a good search engine?  Good Search is powered by Yahoo! so the search technology is top notch.

How much can we make?  Playing around with it a bit, I think that each search earns your favorite non-profit about $0.01 - not a lot but it adds up.  Most of us probably do about 10 searches (at least)  a day, if we had 2000  Good Search users that 20,000 searches per day or $200 per day or $72,800 per year.  Now we are talking real cash people!!!!

So how can we make it even easier?  Use the Good Search tool bar, that's how!  With the tool bar,  doing a Good Search is even easier.

So, instead of saying "Google that for me" or "look it up for me on Yahoo!" - you need to ask your friends to "Good Search for ..." whatever you are looking for. Do it and ask everyone you know to do it.  Heck you can point them to this blog if you like :).

BTW, you can earn ever more by shopping with Good Shop.  Next time you plan to buy online, go to Good Shop and see if your store is listed.  For example, the Apple Store donates 1%.  Did you plan to buy Junior a new iPad?  Well, that could be $5 toward an MPS 3 cure right there!

To get the donation, click the link for your store in Good Shop and you will see its coupons.  Here is what you would see for Best Buy, for example.  To get the donation, just click the shop now button.  that will take you to the Best Buy store where you would shop just like normal. It is actually kind of cool, they have coupons right there that can save you money too!  It is win>>win>>win - love it when a plan comes together.

See how easy that was??  You didn't have to give up that dream of owning the PS3 in order to save the world?

I am not totally sure, but I think that if you have the tool bar installed, it will automatically recognize when you shop at a store that donates.  Can someone please confirm in the comments?

Funny Sidenote: This blog is powered by Google and it won't let me upload any images that show screen shots from Good Search.  Wow!

Ebay Giving Works: Clear your clutter, cure some kids, save on taxes

Okay, let's admit it.  We all have a ton of junk in our house that is just taking up space.  Instead of just letting that junk clutter our house, what if we could do something useful with it?  Team Sanfilippo has now teamed up with Ebay to create an online store.  Instead of selling your stuff on Ebay and donating the money to a non-profit, Ebay will now let you designate a non-profit as the recipient of all or part of your sales why proceeds.  Better yet, by allowing Ebay to donate the money, Ebay will waive almost all of the listing fees.

With Ebay and Team Sanfilippo you can turn:

into:

You see, the money from your donated items goes to cure Sanfilippo Syndrome, a deadly childhood disease.

So, why do it this way?  What are the benefits?

Here are just a few:

• Ebay will track your donations (cash and proceeds from sales) and send you a year end summary for your tax records
• You get a cool little logo to go beside your sale item and special visibility which helps your item sell
• Ebay waives the fees associated with selling online, so more money goes to Team Sanfilippo

So how do you get started?  You can start by visiting our online store:

Team Sanfilippo Ebay Store

Here is more info for sellers:

How to sell using Ebay giving works


So what are you waiting for?  Get rid of some junk today and help cure our kids!

Thanks,
Roy

What is the point of this blog?

About Me
My name is Roy Zeighami.  My son Reed, born in 2007, was recently diagnosed with MPS III or Sanfilippo Syndrome.    It is a rare genetic nuerodegenerative disease and its impact is catastrophic.  Kids with MPS III die before their second decade of life.  We don't accept that fate.

This is a picture of Reed and me hanging out on the
swings in Stockholm

We have teamed up with Team Sanfilippo to battle this disease.  In this blog, I am going to share my ideas about how we can all pitch in to help.

Want to do something small today?  You can help and it won't cost you a penny.  Just use goodsearch.com as your search enginer and specify "Team Sanfilippo Foundation".  Every search you do will earn one penny to help sick kids like my son.  You can learn more at my blog post here. 

Next time you sell on Ebay, you can also specify that you would like to donate a fraction of the proceeds to Team Sanfilippo.  You get a break on your eBay fees and a tax receipt.  How awesome is that?