What is 22q Deletion Syndrome and why does it matter to our family?

It was our mom’s 3rd and final pregnancy. A strong healthy heartbeat in utero assured her of a healthy baby at delivery. On April 7, 1988, the youngest of our sister trio was born and immediately the doctors realized something was critically wrong. A heart defect was confirmed and, at 5 days old with a 20% chance of survival, Alisha was rushed into open heart surgery. (If you missed it… be sure to read mom’s perspective in our Raising Warriors series.)

The surgeon corrected the heart defect but also discovered something extremely interesting in the process… Alisha was born without a thymus gland. That is when she was diagnosed with DiGeorge Syndrome. After 41 days, despite regular aspiration, Alisha was released to go home with the help of a gastrectomy feeding tube. Upon discharge, however, the care team noted that Alisha’s brain was measuring smaller than usual and wondered how that might affect future development.

DiGeorge Syndrome (DGS), also referred to as Velo-Cardio-Facial Syndrome (VCFS) but most commonly known as 22q11.2 Deletion Syndrome (22q), is something that the world knows very little about. Our family, like many others, did not fully understand what this diagnosis would mean for Alisha. 22q is a syndrome caused by the deletion of a small segment of chromosome 22. Only 1 in 4,000 people are born with it.

We have felt alone for most of Alisha’s years and, even though we are slowly learning more about 22q, most physicians and medical professionals are unaware of its existence. The congenital abnormalities are different for each individual, and this makes creating a treatment plan a painstaking process.

For Alisha, some of the side effects of this birth defect were discovered immediately after she was born. 

  • An interrupted aortic arch, bicuspid aortic valve with mild aortic stenosis, and a ventricular septal defect.
  • A missing thymus gland.
  • Flat nose and mucus plug in the top of her mouth.
  • A smaller than average brain size.
  • The inability to bond with anyone since maintaining eye contact while being held was too overstimulating.  

As an infant, toddler, and young child more realities became present. She required physical therapy, occupational therapy, and speech therapy. Some of these therapies took place at home and others through Infant & Preschool Development Services. By three years old, Alisha was taking a bus to a BOCES program to receive additional support.

By Kindergarten, mental delays were obvious and Alisha began attending special needs classes. This action took her out of the NYS regents program and put her on a path to receive an IEP Diploma, which she successfully accomplished through the “Project Show” high school program in 2009.

Looking back, Alisha’s years as a child were easy in comparison to the health challenges she faces today. Over the past 20 years, 22q.11 Deletion Syndrome has often made its presence known to Alisha in many ways:

  • Intense muscle pain.
  • Spinal stenosis.
  • Low bone density resulting in; a shattered elbow and broken wrist, a fractured finger, and an unstable break in her ankle. 
  • Adverse skin rashes and allergies to latex,cobalt, and nickel.
  • Loss of hearing and constant staph infections in the ears. 
  • Difficulty swallowing and throat surgery.
  • Ovarian cysts.
  • Removal of gallbladder and repaired umbilical hernia.
  • Abdominal pain where a gastrocutaneous fistula was discovered and surgically corrected.
  • Tremor and seizure activity.
  • Heightened environmental and drug allergies.

Life is not easy for our 22qTie. Alisha experiences a level of daily pain and suffering that most of us will never have to endure. Her life will consist of one medical struggle after another. But, through it all, her smile is radiant and her joy is contagious. She is a heaven sent gift from God.

Our DiGeorge Syndrome journey is just beginning… and it is our goal to bring 22q.11 Deletion Syndrome to the public’s awareness. As a family we are constantly advocating and fighting for Alisha. It is our responsibility to see that she is connected with the proper medical professionals in order to receive the right treatment plans. 

Head to This is 22Q: Adulthood and Continued Care as our family shares what life looks like going forward; resources we have found useful, leads we are pursuing, and steps we are taking. And please follow us on social media – this.is.22q on both our Instagram and Facebook pages – to continue following Alisha’s journey.

Before I formed you in the womb I knew you, before you were born I set you apart. Jeremiah 1:5

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