pregnancy
Real
Families, Real Stories
BY ALICIA RESNIK
“ 22q – the most common ‘rare’
syndrome you’ve never heard of.”
www.dempsterfamilyfoundation.org
22q11.2 (also referred to as 22q) Deletion Syndrome is a disorder caused by the deletion of a small piece
of the 22nd chromosome. The deletion can affect almost any part of the body. The conditions of the
syndrome vary widely even among afflicted members of the same family. 22q is estimated to affect 1 in
4000 live births.
Most cases of 22q occur “de nova”
– meaning the chromosome deletion
happens as a random event. Many
affected people have no history of
the disorder in their family. However,
in approximately 1 in 10 families the
deletion is present because one of the
parents has the syndrome. An affected
parent has a 50% chance of passing the
condition on to their children.
The symptoms of 22q cause ap-
proximately 180 health and develop-
mental problems. Some conditions that
have been identified include:
• Heart abnormalities
• Hypocalcemia
• Palate differences
• Feeding and gastrointestinal dif-
ficulties
• Breathing difficulties
• Inguinal, umbilical and diaphrag-
matic hernias
• Immune system disorders
• Growth delay
• Kidney abnormalities
• Hearing loss
• Endocrine issues
• Orthopedic issues
• Cognitive, developmental and
speech delays
• Bipolar disorder
• Schizophrenia
• Depression
• Behavioral and emotional issues
• Anxiety
• Autism spectrum disorder
• Attention deficit hyperactivity
disorder
22q is often underdiagnosed
because the signs may be mild or the
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conditions may be mistaken for other
disorders with similar symptoms.
If you’re concerned that you, or your
child, may have 22q, speak with your
pediatrician. Early detection, through
genetic blood testing, is important. 22q
has no cure but, there are therapies and
medical interventions available to ad-
dress the disorder’s associated symptoms.
The Butterfield Family
“I don’t want anyone to be ashamed of
having this condition,” says Ms. Malikah
Butterfield. Ms. Butterfield has two
daughters, Malaya who is 21 months
old and Levia who is 7 years old. Both
of her daughters have 22q.
“I knew something was wrong.
Malaya ate her food but then it would
come back up. She wasn’t keeping
anything down. Her weight was up and
down since birth,” says Ms. Butterfield.
She brought her concerns to their
pediatrician, Dr. Ryan Bates. Following
blood tests, Malaya was diagnosed with
22q. Since she was a month old, Ms.
Butterfield says the family have been
travelling back and forth to the Chil-
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