Logie Pogie Blog

Rare Disease Day 2018

There is something bittersweet about being part of a day like today.  I don’t think anyone ever wishes to be part of this community.  If you are part of it, either you or someone you love is facing some undesirable circumstances.  However, being a part of this day means that you have surrounded yourself with some pretty amazing people.  People who you may never actually meet in person, but are your lifeline at times.  These people know your struggles, your prayers, your highs and your lows.  They know more than any doctor, and they will help you advocate for your loved one with this rare disease.  They get it.  They pass no judgement.  They just embrace.  I’d be lost without my rare family.

Actually, some people DO choose to be in this community, and they are working miracles for us.  They are the scientists working extremely hard to find treatments and cures.  This year’s theme is RESEARCH, so I’d like to share some of what they are doing, and give you a glimpse into where your donations go.  It’s amazing, and I’m still wrapping my brain around the concept of what will likely be our cure…gene therapy.

 

Dr. Philpot and Dr. Gray’s team recently had their gene therapy grant funded! Gene therapy has the potential, not to just manage symptoms of PTHS, but to correct the underlying genetic defect in our kids! Preliminary findings have been very encouraging and we look forward to more amazing work from the UNC team!  To support the UNC team, click HERE!

 

 

Daniel Marenda, Ph.D, at Drexel University is using a novel animal model, a fruit fly, to test for potential therapeutic compounds for Pitt Hopkins Syndrome (PTHS). Thank you Dr. Marenda and the entire team at Drexel for giving our families hope. If you’d like to help us in our fight for PTHS, please donate to our important research: https://pitthopkins.org/causes/donate/

These are just a couple of teams working wonders for us.  Every year the research grows, and will not only help Logan and her friends, but will help other rare diseases as well!  If you’d like to help fund the research, please click on one of the links above, or donate to Logan’s Million Dollar Bike Ride page.  UPenn will match up to $50,000 of donations to the Pitt Hopkins Pedalers!!!!  This is our largest fundraiser of the year!

Whether you donate to PTHS, to another rare disease research team, or even if you just help spread the word, we are grateful.  Rare disease numbers are growing, fast.  Our work done today will surely help our future generations.

 

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