Show Your Stripes

When we first got pregnant with Gracie, we never in a million years thought that we would be facing what we have the last 4 months. In utero, she passed all of her genetics testing and screening, as well as her fetal echocardiogram. We breathed a huge sigh of relief after every test. 

At exactly 2 months old, Gracie recieved her confirmed diagnosis of Beckwith Weidemann Syndrome.  

Beckwith Weidemann Syndrome is defined as an overgrowth and cancer predisposition disorder that is a result of a misprints error on the 11p15 chromosome. It occurs in approximately 1 in 11,000 births. 

“They look perfectly normal” - is one of the hardest things to hear from others who don’t fully understand diseases that are rare, some not physically present, some that are invisible to the eye, or just mild in nature.

 Asside from Gracie's tongue, she looked "perfectly normal".  Even after her tongue reduction surgery, she still had some major health hurdles to overcome (she still does).

So What is Rare Disease Day Exactly?

In the United States, there are more than 7,000 diseases that fit the bill as a rare disease. Between 25-30 million Americans are living with rare diseases, with over 300 million globally.

Both in Amercia, as well as internationally, Rare Disease Day was adopted to raise awareness on the impact being diagnosed with a rare disease has on patients' lives. It's goal is also (and perhaps more importantly) is to raise awareness for the need for research. It shines a light on rare disease and promotes health equity for all those living with these rare diseases.

One of the reasons we are all the way at CHOP for Gracie's needs, is because they have a team of specialists who research, diagnose and treat BWS. Whereas most doctors have heard of, but rarely, if ever, treated a kid with BWS. Our geneticist was even hand delivered the first ever case study by Dr. Beckwith himself when he retired. 

The mascot, or symbol, for rare diseases in America is the zebra, as not every illness is black and white and it is supported by the hashtag and slogan #ShowYourStripes.

My entire school today is wearing their stripes in support of Gracie and other kids who suffer from rare diseases and even sent me a shirt and her a bow.  

There are so many others around us living with rare diseases. Many of us know someone who does! Or, possibly, you may be unaware of a person you know who is living with a rare disease. 

So today we show our stripes for Gracie, and for all the others who live with rare diseases.