Happy Rare Disease Day! Though 22q11.2 Deletion Syndrome (Digeorge) is the 2nd most common genetic syndrome (after Down’s) no one seems to know anything about it!
For us we’ve learned about cleft palates, g tubes and mic-keys and gravity feeds, more than I ever want to know about the heart and CHD, absent thymus and low immune function, therapies and seizures, hypoparathyroidism, clotting disorders, GERD, velopharyngeal insufficiency and global delays (And much more).
When Josie was 2 weeks old, the day before her 1st open heart repair, the doctor told us “she might not be mentally retarded” and gave me a list of 180 anomalies associated with 22q before he solemnly walked out of our NICU room.
Happy to say that while we have learned a lot of horrible lessons along the way and carried some very heavy crosses, Josie is so much more than a diagnosis and though we spend a lot of time in therapy and hospitals, she is the sweetest, sweetest, loving 5 year old on the planet.
She is my ray of sunshine and my love for her makes every sacrifice fade in comparison to the joy she brings me day in and day out.
So happy rare disease day! Celebrate our differences. Josie is one tough cookie and I’m proud to be her mama.