What I Want Others to Know About My Son's Rare Syndrome

Most people know about Down syndrome, and that may be because it is the most common chromosomal abnormality. Have you heard of the most common chromosomal microdeletion abnormality? This condition is known by many names, but the one that geneticists use is 22q11.2 deletion syndrome, or 22q for short. Whereas Down syndrome manifests when there is an extra chromosome in the body, 22q11.2 is apparent when the q11 portion of the 22nd chromosome is missing. 22q also covers other variations where other areas than 11 are missing. This means that a section of every gene is missing in a person who is affected by 22q. Because of this section that is missing, there are a possible 180 different symptoms that can manifest themselves in the individual.

Why does this matter to me?  My eldest son was born with 22q11.2 deletion, and for him that has meant many things, including autism. Why should this matter to you? I believe raising awareness matters. There may be more people in the world that are affected by this abnormality who do not know about it, and therefore they may not know what to look for in themselves or their child. There may be issues that could be worked on if they only knew what to look for.

Some of the most common ailments when speaking to other families with 22q, include cleft palates, heart defects, learning delays, autism, possible mental health illness, and issues with immunity, kidneys or growth. This just means that they may have problems eating, speaking clearly, breathing, moving, learning, and generally just staying healthy. My son has a heart defect, speech issues due to a submucous cleft palate, only one kidney, learning issues, and autism.  There is so much more to him than these things, and the same is true with any person who has 22q.  It is important to realize that each person with this condition is different than the rest.

In a support group for families that have members with 22q11.2 deletion, I asked what it is they wished that people knew about the chromosomal abnormality. Here is what was said:

Krystal from Texas, USA: Those that have 22q11.2 deletion “are diagnosed at all different ages, and some never at all! I had another 22q mom question my daughter’s diagnosis because she was not diagnosed until she was 9 years old. It was hurtful and insulting. She was newly diagnosed at the time, and we went to a 22q event to meet other 22q families. We left feeling like we didn’t belong or deserve to be there because of her “late diagnosis.”

Roisin from Ireland states:  “22q is like a box of chocolates, you never know what you get.” Roisin was diagnosed with 22q at the age of 38.

Beth from the U.S. shares a quote that a friend told her: “Having a chromosome abnormality is like a salad bar…you know you’re getting a salad, but everyone puts different things on their salad. Each kid is unique and is following his or her own path.”

With each new diagnosis that a family receives, there is a newfound sense of grief that comes along with it. The child is the same child as they were before the diagnosis, and yet there is the realization that they will never be the same as other children, or adults. What is important, is to be there for these families as much as you can be, and to be accepting of all abilities because not even every person who has 22q is the same, but they all have something that is theirs to share with world.

For more resources on 22q11.2 deletion, visit 22q.org  or the National Organization for Rare Disorders (NORD) website.

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 Getty Images photo via crPrin