This episode is being published on February 28th, otherwise known as Rare Disease Day. This is the day we speak a little louder than normal on behalf of those impacted by Skraban-Deardorff. There are over 300MM people impacted by rare diseases worldwide, with 72% of them being rare genetic diseases like SKDEAS. Sometimes we feel small and alone and this day pulls all rare families together to drive awareness of the importance of fighting for treatments and better lives.
So I’m doing something a bit different on the podcast today and featuring two guests that have recorded themselves answering the question “What Does Rare Disease Mean to You.” First, we will start with Andrew, who is a SKDEAS patient and we are proud to have him giving a voice to this genetic difference.
Next, we have Kristen Worrell, who has a young daughter impacted by SKDEAS and she beautifully tells us what rare means to her and how grateful she is for her daughter. I’ve never had her on this podcast before, but she must join me in the future to tell more of her story.
I also took this assignment and i flipped into writing a letter to our first neurologist. There is a proverb that is still widely taught in medical school that goes something like “when you hear hoofbeats, think horses, not zebras.” That hurts our rare community and often delays diagnoses and dismisses parents that know there is something going wrong with their child. I wear a zebra brooch to remind myself to never let someone dismiss me again and to find the doctors that think zebras.
Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.