November 23, 2015

22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome

What is 22q?

“22q,” technically known as 22q11.2 Deletion Syndrome (22q11.2DS), is a disorder caused by a missing piece of the 22nd chromosome. This microdeletion in chromosome 22 can affect almost every system in the human body. 22q deletion is the second most recognized chromosome disorder, following Down Syndrome.

Every child born with 22q deletion presents a unique set of the possible 180+ symptoms, and medical professionals have only recently begun to recognize these symptoms as indicators of 22q deletion. Due to a combination of the mentioned circumstances, this disorder can take years to correctly diagnose.

22q deletion health and/or developmental issues may include, but are not limited to, the following: growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies. This list also includes the possibility of speech, developmental and cognitive delays, as well as ADHD, Autism and many anxiety-type disorders.

Brief Lesson in Genetics

As provided by The International 22q11.2 Foundation Inc.

The human body is comprised of 46 chromosomes in every cell. Cells are the smallest parts of the body, and the 46 chromosomes are present in 23 pairs. Chromosomes are the blueprints for the body. One chromosome from each pair comes from the father, and one comes from the mother. This is why a child resembles the entire family.

When we look at the 23 pairs of chromosomes, there are some differences. The initial 22 pairs carry majority of the information (genes) that determine who we are. The 22nd chromosome is the smallest and the 23rd pair determines whether a baby will be male or female.

22q11.2 deletion means a small amount of information (about 30 genes) is missing from the 22nd chromosome. A special blood test is required to confirm or rule out this syndrome. This deletion is present from the moment the mother’s egg and the father’s sperm unite to create the child. This deletion is not a result of any illnesses, medications, food, drink, cigarettes, or drugs used by the parents before, during, or after the pregnancy. In most families, the birth of a baby with the 22q11.2 deletion will be the first occurrence of such in the family. However, in roughly one in ten families where the deletion is present, it is a result of one parent with the syndrome passing it to the child. When a child is diagnosed with 22q11.2 deletion, it is recommended that both parents undergo a blood test to help the parents realized the likelihood of having another child with this syndrome.

Living with 22q

While no cure is currently known for 22q11.2DS, certain conditions are treatable using standard remedies. The key is to identify each of the associated conditions and manage them using the best available treatments.

Additionally, early intervention methods like private therapy can ease the challenge by providing the right assistance, education, and support to help a family adapt and develop a healthy and helpful routine. As an industry leader in Pediatric Home Health Care, Epic Health Services works closely and compassionately with each child and its family to provide the best care possible. At Epic, we approach caring for every child as if caring for a member of our own family.

Care begins with an evaluation by specialists in physical therapy, speech therapy, occupational therapy, special education, and more. Our experienced, licensed nurses know and understand the challenges you may be facing. Our nurses make it their priority to create an environment that will nourish the growth and development needs of each child while also building a support system for the entire family.

Early intervention can be requested by a pediatrician, other health care provider, or directly by parents and is offered through insurance, private pay, or may be a service offered through your state or county at a discounted cost (in some cases, at no cost, depending on your state of residence).

Raising Awareness

Awareness around 22q11.2DS continues to increase year after year, yet it remains the “Most Common ‘Rare’ Syndrome You’ve Never Heard Of.” Help us spread awareness this month and join the #22qAwarenessDays campaign!