Hayleys Story

     In March of this year (2008) our 14 year old daughter Hayley was diagnosed with chromosome 17q21.31 deletion syndrome.  We are so relieved to finally have an answer as to why she has so many health problems.  Every year she seemed to develop new health problems. We didn’t know the cause of them, and we were constantly terrified of what was going to happen next. We are finally able to have information about the disorder, and an answer has provided us with the closure that we needed.
     Hayley was born with hypotonia, jaundice, and feet deformities (wore SMO’s for correction). She was a poor feeder and was floppy as an infant. At one month she was diagnosed with hydrocephalus and a V-P shunt was placed when she was 2 1/2.  She started to have seizures and placed on medications for that.  She had ptosis and exotropia… had two eye surgeries to correct this and fitted with glasses. She had developmental delays all along.
     At 3 years old she had a large atrial septal defect repaired with open heart surgery.  At 5 years old she was diagnosed with mild bilateral hearing losses (30 dbs). Her dentist clipped frenulums on the top and bottom. She was found to have chronic neutropenia. Giant white patches developed all over her skin and we were told it was vitiligo.  She also has patchy eczema.
     At around 7 years old, she had episodes of vomitting, low blood sugars, sweaty, and pale.  She had frequent trips to the hospital for dehydration.  Her hair bacame thin and started falling out.  She became very sick and weak…we thought we were going to lose her.  She was diagnosed with autoimmune adrenal insufficiency and started taking medications for that.  She immediatley started feeling better.
     At 10 years old we noticed a bump on her lower spine that wasn’t there before.  They found a back defect (L4-L5) grade 4 spondyloptosis.  They repaired this with a 12 hour back surgery for rod placement.  She developed scoliosis from the deformity and was fitted with a full time back brace.
     Despite all these challenges, Hayley is just the happiest, most friendly girl you would ever meet.  She is always smiling and has a great sense of humor.  She loves to dance, swim, canoe, and ride her bike (fancy three wheeler).  She plays baseball, basketball, and runs track for the special olympics.  She also loves to help her sister practice volleyball (we are volleyball junkies in our house :)  As a family we have learned to find humor in all situations… it really helps to lighten those crazy moments where most people just won’t ever get the oppurtunity to understand..
     Having an answer has been such a relief.  We are thankful for the physicians who help take care of Hayley, and are very grateful for the genetic researchers who provide positive life changing answers to families like ours.

Submitted by:  The Kabanas..Sue, John, Hayley, And Holly
..two rabbits thunder and popcorn, and a bull terrier Lilo too…