On Friday, September 28, 2012
, the Global Genes Project will hold a screening of the documentary Here. Us. Now. at 7:oo pm at the Harmony Gold Preview House 
in Los Angeles. A limited number of seats will be made available for this private screening. Tickets are available here.

Here. Us. Now. has been commissioned by the  Ewing Marion Kauffman Foundation and chronicles the story of Chris and Hugh Hempel and their identical twin daughters, Addison and Cassidy.

 

Addison and Cassidy have been diagnosed with Niemann-Pick Type C, a rare and fatal genetic disease that causes progressive neurological deterioration. As the devastating effects of the disease begin to take hold, the Hempels enter a world of complex medical literature, complicated clinical trials, and cumbersome regulatory mazes where new drug discovery, invention, and approval are slow and ineffective.

Here.Us.Now. is a story about one family’s fight to bring medical innovation home, but the Hempels’ story reveals the grim truth that rare disease is all too commonplace. Despite unprecedented investment in medical research and development, there are thousands of known rare diseases and disorders without cures. It’s a broken system moving at a tedious pace, and it leaves heart-rending personal stories in its wake.

5 thoughts on “Here. Us. Now. Film By Kauffman Foundation Details Daunting Realities of Rare Disease Drug Development”

  1. sheila mahoney says:

    I am a patient of relapsing polychondritis, which is a very, very rare disease, A spot on your program would be so beneficial to the medical community as well as patients. This disease is an immunity disorder effecting the cartilage throught all body parts.

    Thank you for your consideration.i

  2. Patricia Kirby says:

    I too have relapsing polychrondritis which is rare by the self fulfilling prophecy that docs, if they see a case in training they will never see another one…most often mild cases are dx’d as spider bite or ear or skin infection….the earlier the dx the better the results but for many in my support group that is very difficult …we remain a rare disease because of misinformation. Many by the time they are dx’d have serious complications…mine being a heart attack with continuing inflammation that we are searching for the right drug that doesn’t kill me by overwhelming infection…So many of immune diseases are considered rare because Rheumatology as field is fairly new. Any help in getting this out there to stop the misinformation would be helpful to all those already dx’d any for so many more that are not. I am more fortunate then most as I have five medical centers here in Chicago to seek treatment…but just because there is treatment doesn’t mean you will get a dx in time to be effective.

    Thank you

  3. Mark Radabaugh says:

    Sheila, you are not alone. I was Dxd with RP 6 years ago. RP has changed a lot in our life, medications are limited and exspensive. If you are on FaceBook, there is a great support group I belong to…search either RP Support or Natalie Fernandes.

  4. Susan Feldmeir says:

    I am so sorry for the Hempels. My granddaughter,Caley J, has CDKL5 genetic disease. It too is a neurological genetic disorder and manifestation. The more attention to rare genetic diseases the more money investment for cures.

  5. Rowtie says:

    My son is two months away from being four years old. Since he was 3 months old he has been suffering with recurrent mouth ulcers among other things. He has not yet been diagnosed even by renowned London and Canadian hospitals even some U.S. Hospitals on consultation says his case is rare and not associated with any known diseases he has fluctuating immune system among other things biopsies etc gi scope tests yet no diagnosis i am scared and frustrated but i walk with faith and hope that he will one day be diagnosed and be out of antibiotics etc everyday

Comments are closed.

X