Amazing challenges for rare disease groups and how collaborations could help

You know that moment of the day …when you rewind back to 6.30 am – the painful wakeup; the 7 am teleconf (that does not start till 7.30 because of connection problems between NJ, Europe and everyone else) that lasted for 6 hrs; then the hop in the car and drive to a conference at a beautiful campus in Cary, NC in time to present a poster (that you submitted several months ago and is now so outdated), you chat with a few folks and realize you now know more about the topic than you thought and walk away convinced you have lots more work to do to explore X hypothesis; then you sit mulling the X hypothesis through a couple of talks then drive home; do a bit more work then call it quits for the day, have dinner, put the children to bed then you have that realization .. you are tired, exhausted but you know that moment of the day when you realize it just pales into insignificance..This is everyday.

I just had that moment. My kids are young and healthy (as far as I know). But I know families with sick children, very sick children. So sick with incredibly rare diseases that their parents started their own foundations and have been fighting to raise money to fund much needed research, cutting edge stuff including gene therapies. They formed companies to try to obtain grants and commercialize some of the ideas they have funded in academia. I cannot even remotely imagine what their lives are like between the stress of caring for their children, raising money, running foundations and companies in order to save the lives of their children..

These are just a few examples of the amazing challenges these families are undertaking.

Jonah’s Just Begun and Sanfilippo Research Foundation Inc  are participating in the Chase Community Giving Challenge, they need votes on Facebook to win some serious money $350,000.. so go vote..you have until the 19th Sept 2012. This money would help fund research on a gene therapy for Sanfilippo Syndrome and a clinical trial on Genistein.

Hannah’s Hope Fund  has until April 30th 2013 to raise $450,000 and only if they do will they obtain a matching amount from Doris Buffett’s Sunshine Lady Foundation. This would enable them to fund a clinical trial of a gene therapy for giant axonal neuropathy. So please  donate and tell your friends to do the same.

Can you imagine if your child’s life depended on raising this kind of money. It puts everything into perspective. Now multiply this many thousands of times in this country alone.

So what can be done to change the situation, if I had just one wish it would be this. We need to share our scientific research more than we currently do. Call it collaboration, openess, open science…whatever. Here’s why: what if you just made a compound that is sitting on your lab desk, no one in the world has made that compound..but it could be the cure for disease X..you have no idea of knowing because you hoard your compounds like every scientist, you may publish it in a journal that requires someone else to pay to obtain a copy to see the structure you made. You will likely not deposit that compound in a database you may not even make enough to share with someone to test it (admittedly this is an extreme case – but bear with the liberties I am taking)..Imagine another scenario, you are a drug company who for over 100 years  (maybe longer) has taken the R&D approach, make compounds, test them, patent them, sell them make billions and repeat. Very few of the compounds you ever make gets to see the light of day.. what happens to your archive of compounds – in there could be the cure for disease Y or Z.  So you are saying what have these extremes got in common..well they both now realize they need each other..

Take for example the NCATS efforts to repurpose pharma drugs using academics..and yet the companies are still being cagey by not sharing molecule structures, making it hard for anyone to figure out what the molecule they are sharing really is.  What if this set of compounds could contain cures for many diseases and someone with models for them could predict them and test them..until the structures are released we will not know. This is like a child holding on to one of his many toys (hidden in a box) until he can swap it for something else, but who will swap their toy for a box that could be empty? So my point is this, if people are going to collaborate, these partial efforts are pretty pathetic. Parents will continue to have to raise millions of dollars to fund the academics that really want to cure diseases.

Academics need funding, drug companies need products, patients need cures. Real collaboration needs to happen more readily between pharmas and pharmas & academia and they need to realize it soon, and then perhaps I can have fewer 6h teleconfs. In the meantime please support Jonah’s Just Begun, Sanfilippo Research Foundation Inc  and Hannah’s Hope Fund and help them succeed because their efforts will revolutionize treatments for rare diseases.





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  1. sharyn sharer says:

    Thank you for that article. It hit close to home. My granddaughter, 17 months old, has Chediak Higashi syndrome and not only do we need to find a cure for this genetic autoimmune syndrome but my daughter has to find finances to survive because she can not work because Abby can not go to childcare. Any ideas would be helpful. Thanks

  2. Heather Earley says:

    Hi Sharyn! As a member of the Global Genes Organization, helping to raise awareness about your granddaughter’s disease is a great first step!

    1. Sharyn Sharer says:

      Thanks! I am now ready for the 2nd step, and third….

      1. Heather Earley says:

        I understand Sharyn ;). Sean gave you some great advice below. Here is an example of a tweet I sent from Global Genes yesterday:

        @collabchem Engaging: globalgenes.org/get-involved-3/ w/staff who help direct resources! We 2 suggest: @GeneticAlliance @RareDiseases @curetheprocess

        Getting in touch with patient organizations such as ours to help you connect with others as well as Genetic Alliance, NORD, EveryLifeFoundation, and Bens’Friends are great ways to connect with others to engage in events that will help raise the level of resources needed for better treatment and research.

        Chase Community Giving and other charitable organizations offer opportunities to raise awareness and funding for your disease.

        Global Genes not only offers programs for raising awareness while fundraising but can connect you with others so you don’t have to do it “alone”.

        On a personal note, I too have a son with a rare disease, was unable to work the first 7 years of his life (he is now 9) due to his illness and truly understand the hardships in all facets of raising a child who is ‘different’. Lot’s of hugs to you. You are in my thoughts.

        1. sean says:

          Many thanks Heather for the detailed response, I am sure many people will benefit from knowing they are certainly not alone.

  3. Sean Ekins says:

    just so you get an idea of what other groups have done in terms of raising money, connecting with researchers, funding preclinical and clinical efforts etc..
    http://www.jonahsjustbegun.org/ http://www.hannahshopefund.org/ are just 2 of many examples frobably many thousands of parents that are doing the same
    I am happy to introduce you to any of the folks I know.

    Basically each parent becomes an expert on the rare disease. There are groups out there for support, and meetings to advocate for reasearch etc.

    As a scientist there are thousands of us out there so finding the ones working on Chediak Higashi, connecting with them and finding out the prospects for treatments and what is happening in the field might be useful.

  4. sean says:

    Please see my 2 part guest blog with @aclarkxyz over at http://pistoiaalliance.org/blog/ all about how the Open Drug Discovery Teams app was inspired by parent lead disease groups

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