Update: On Sunday July 16 Madi travels to San Francisco for a fresh CT along with typical blood-work and EKGs: we'll post updates early next week.
As you’re aware Madison’s disease is extremely rare and her tumor tissue is harder to acquire than moon dust. Coordinating with the Chordoma Foundation (CF) Biobank, we sent them tissue in January: tumor cells were injected in to mouse models and the good news is also a tad disturbing: tumors popped up suddenly and and grew very quickly. The ‘grew very quickly’ is what we saw with Madison 2013 and again late 2016. The biobank also has Madi’s tissue growing in a cell line. Note the CF's role is looking organically at what traits the different chordoma variations have, and testing existing FDA approved drugs that show promise. The mission of the biobank is not to identify a 'cure' for Madi, but for all future Madi's impacted... recently branded as Pediatric Chordoma.
An uncommon disease and approach: the CF has access to all 1,600+ FDA approved drugs to test against chordoma. This approach is unique and extremely important for rare diseases... here's why: if for example Madi offered a large pharma some chordoma tissue to test, they’ll look at the 1:20,000,000 prevalence of her rarest-of-the-rare disease and wouldn’t likely spend hundreds of millions researching, developing a med, funding clinical trials, etc... not a very good business model given only 15-20 new poorly differentiated cases are diagnosed annually in the US. Amazingly the CF has funded testing and researchers have identified several FDA approved drugs that appear effective in mice, in labs and will be rolled out as off-label considerations in human trials.
The Analogy: Madison had suggested that this journey is like being on a two engine jet over the ocean. Early in the flight one engine exploded (cancer diagnosis at age 18). While the other engine seemed mechanically stable for a while and confidence was high, flames suddenly started coming out of the other engine (metastasis at age 21). We discussed that the fire suppression system (Tazemetostat clinical trial) extinguished the blaze on that engine but later in the flight, it seems impossible not to stare unblinkingly full of hope and prayers that we don't see any smoke. Being very spiritual, Madison was reminded that God is her co-pilot: with a huge grin she said “God is the pilot, you’re the co-pilot, and I’m the lady screaming from the back of the plane.
Thanks for your love and prayers.
The Joneses
As you’re aware Madison’s disease is extremely rare and her tumor tissue is harder to acquire than moon dust. Coordinating with the Chordoma Foundation (CF) Biobank, we sent them tissue in January: tumor cells were injected in to mouse models and the good news is also a tad disturbing: tumors popped up suddenly and and grew very quickly. The ‘grew very quickly’ is what we saw with Madison 2013 and again late 2016. The biobank also has Madi’s tissue growing in a cell line. Note the CF's role is looking organically at what traits the different chordoma variations have, and testing existing FDA approved drugs that show promise. The mission of the biobank is not to identify a 'cure' for Madi, but for all future Madi's impacted... recently branded as Pediatric Chordoma.
An uncommon disease and approach: the CF has access to all 1,600+ FDA approved drugs to test against chordoma. This approach is unique and extremely important for rare diseases... here's why: if for example Madi offered a large pharma some chordoma tissue to test, they’ll look at the 1:20,000,000 prevalence of her rarest-of-the-rare disease and wouldn’t likely spend hundreds of millions researching, developing a med, funding clinical trials, etc... not a very good business model given only 15-20 new poorly differentiated cases are diagnosed annually in the US. Amazingly the CF has funded testing and researchers have identified several FDA approved drugs that appear effective in mice, in labs and will be rolled out as off-label considerations in human trials.
The Analogy: Madison had suggested that this journey is like being on a two engine jet over the ocean. Early in the flight one engine exploded (cancer diagnosis at age 18). While the other engine seemed mechanically stable for a while and confidence was high, flames suddenly started coming out of the other engine (metastasis at age 21). We discussed that the fire suppression system (Tazemetostat clinical trial) extinguished the blaze on that engine but later in the flight, it seems impossible not to stare unblinkingly full of hope and prayers that we don't see any smoke. Being very spiritual, Madison was reminded that God is her co-pilot: with a huge grin she said “God is the pilot, you’re the co-pilot, and I’m the lady screaming from the back of the plane.
Thanks for your love and prayers.
The Joneses
