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What is Rare Disease?

Today is Rare Disease Day, where all of the orphan diseases come together to raise awareness for Rare Disease.  While these individual diseases are quite uncommon, one in ten diseases is actually considered rare!  Abby's is one of the rarest, with Cerebrocostomandibular Syndrome only affecting approximately 10 people in the world!




But what is Rare Disease for us?


Rare disease is a toy zebra hiding among feeding bags, syringes, and cans of Pediasure.



It means fighting with insurance to get essential services deemed medically necessary. 

Being rare means having to become the expert on your daughter's condition, because no one else is.

It is feeding pumps, ventilators, pulse oximeters, and oxygen tanks crowding a little girl's room.



Rare disease means frequent phone calls to doctors, nurses, case managers, and supply companies.

It is scars that tell the story of battles won.




Having a rare disease means isolation and loneliness because of the threat of germs.

It means spending nearly two years of your young life in the hospital.

Being rare means 31 surgeries before you turn 7. 

It is nebulizers, cough assists, and inhalers.

Rare disease means struggling to breathe after walking up the stairs.

It means celebrating improvements in lung volumes, even if those lung volumes are still far from what they should be.

Having a rare disease means giving her brother big hugs, not knowing when she will see him again.



It is staying with family members while your parents and sister are at the hospital...again.

Rare disease is discovering a group of friends who understand you better than anyone else, even though you've never met them in real life.

It is having a a huge support network who pray for and encourage your family constantly.

Being rare means becoming an even tighter-knit family who loves and supports each other.

It's thankfulness for the little things that really aren't so little, when you think about it.





Thank you all for being so supportive of our family.  We love you!



Comments

Mary Lou said…
Julie….
Rare disease is…. A Beautifully Unique Abigail Elizabeth Joy!! ;)
Peace out, Mary Lou

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