Pints-For-Pitts

This is sweet Sarah.  She is 14 now but was diagnosed at the age of 9 with a very rare syndrome called Pitt-Hopkins.  Her struggles began at 6 months of age and after years of countless visits to piles of specialists from Geneticists to Neurologists at Cincinnati Children’s hospital followed by non-traditional eastern medicine approaches, I found our way to an online group for the undiagnosed (SWAN.com).  There I learned of a pilot research protocol at the National Institutes of Health in Bethesda, MD that aimed at learning more about those with rare conditions and diseases. The cleverly named Undiagnosed and Rare Disease Research Protocol required each applicant’s complete medical history and a recommendation letter from the primary care doctor.  That added up to 3 full reams of paper once fully assembled. I packaged it up along with the application, sent it in, and by some great grace she was one of only a very small handful accepted that first year.  We flew to DC and stayed at the NIH hospital for a week of evaluations, blood draws, tests, and a skin biopsy.  It was spring and we were told that the chances of diagnosis were highly unlikely due to the unusual nature of her symptoms.  Our visit was more than likely just a donation to the body of knowledge of medicine.  But alas, the following year (my first day back in the office after the New Year holiday) I found an email stating they had diagnosed Sarah.  I called and was told that she has Pitt-Hopkins.  A very rare spontaneous genetic mutation on the TCF4 gene on the 18th Chromosome, and there were less than 100 known cases in the world since it’s discovery in the 1970’s – and most of those were in Europe.  

In the 5 years that have passed that number has grown to approximately 500, with countless more unidentified. Through a determined and super-hero like effort a research foundation has been established in that time to try and find a treatment and ultimately a cure for this condition.  PTHS causes global developmental delays and many are non-verbal with severe motor skill and intellectual challenges.  It is also common for individuals to be very smiley and with happy dispositions and hearts of gold (anyone who knows Sarah knows she fits the bill☺ ).  

Your generous donations will be helping to further the research made possible by the Pitt Hopkins Research Foundation (www.pitthopkins.org). There are currently 6 research grants underway at the University of Alabama, Harvard Medical School/Mass General Hospital, MIT, John Hopkins School of Medicine, Temple University, and UNC Chapel Hill.   This is huge for such a small orphan disease and speaks volumes for those pushing knowledge forward on behalf of Sarah and others like her.  

With so much to learn every single dollar is critical and what better way to say thanks to invite you to a pub crawl on October 22nd.  We want to thank everyone for their support and can’t wait to see you at the crawl!