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Showing posts with the label rare disease

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....

Another milestone

In just 2 short hours, my miracle will turn 5.   Five. FIVE!!!!! This is another milestone to add to her journey, and it's one we haven't shared as publicly.   There are lots of statistics about kids born with rare diseases.  Here's one that is pretty crippling if you let it be: Yet, here we are, with a little girl full of zest for life and more joy than I could have ever imagined! I will never forget when Caleb found this sheet (it's a Rare Disease info card published by Rare Genes) two years ago and comprehended what it meant.  He brought it to me sobbing, asking if Abby was going to die before she was five.  My answer has always and will always be that we are thankful for every second and God knows exactly how long we will have Abby. I'm so grateful for these last five years.  I am a different person because of them, and I wouldn't change a thing.   Abby's birthday is always a bittersweet day for me, with a touch of PTSD thrown in there.  There...