22q11.2 Deletion Syndrome, Digeorge, Rare Diseases Day

28 Feb

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!

whatis22qFor 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.


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Our midwife, me, Josie and Brian just moments after she was born!

Our midwife, me, Josie and Brian just moments after she was born!

namejo echo

July 4th, 2013

July 4th, 2013

happy belly

Josie and her SLP Janet blowing bubbles.

Josie and her SLP Janet blowing bubbles.

DSC_0422 2 DSC_0821 bath

Sisters

Sisters

beach bathroom

Snuggles

Snuggles

 

toes first time craniofacial 17 mo collage-4.jpg Josie's Christening outfitproud parent
22q11.2 Deletion Syndrome–look it up–you never know; you may get surprised when a rare genetic syndrome suddenly comes into your life.

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3 Responses to “22q11.2 Deletion Syndrome, Digeorge, Rare Diseases Day”

  1. Susan Busch March 28, 2014 at 8:15 pm #

    Would you be able to post my book,
    Yearning for Normal, by Susan Ellison Busch on your website? It is the story of my journey both in faith and acceptance as the mother of a son with Deletion 22q.11.

    http://www.tatepublishing.com/bookstore/book.php?w=9781625106728

  2. Sarah Laviolette Coulson April 3, 2014 at 9:19 am #

    Your daughter is adorable.. she looks an awful lot like my son who also has 22q. it’s a marvel how the syndrome makes them look like one another even though they have no relation to eachother.

Trackbacks/Pingbacks

  1. 7 Quick Takes: Jeni Approved | - February 28, 2014

    […] syndrome is a lot more common than you’d think, we’re celebrating 22q. Click here to read just a little more (and see adorable pictures of […]

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