Long Road to a Diagnosis for Cassie With Unique Gene Deletion

Cassie was born at 36 weeks. She was born with a sever heart condition, leaving her with no suction to bottle feed. I fed her cereal from a spoon, mixed with formula. A g-tub was placed at four months old. Cassie underwent open heart surgery in March of 1998. They lost her once on the table.

For the first four years of life, she battled 22 ear infections, viruses in her blood, RSV, pneumonia, and bronchitis. Most of these led to ER visits or hospital stays. At that time I only knew my daughter had developmental delays, hypotonia, syringohydromylia (fluid on the spin.)

We moved from Nevada to Indiana in 2007. She was then diagnosed with her gene deletions 12p13.31,13.1 ( she’s the only one in the world with this deletion ) and 7p13, cavernous malformations of the brain ( 16 of them ) seizures, mood disorder, sensory issues, brittle bones, and hypermobility.

She’s had a few ER visits and a hospital stay since we’ve been in Indiana. She catches illnesses very easily. She is a happy girl. She has no prognosis. She is now 17.