A Mother Shares How 22q11.2 Deletion Syndrome Impacts Her Son

Parker has experienced heart failure and developmental delays due to 22q11.2 deletion syndrome. In this video, Parker’s mother, Lauren, shares her experiences trying to diagnosis various health issues of her son.
Eventually, they learned Parker was missing his thymus. A nurse practitioner mentioned this is a big indicator of 22q deletion syndrome, also known as DiGeorge syndrome. This prompted genetic testing where they determined Parker has 22q11.2 deletion syndrome.
22q11.2 deletion syndrome is a microdeletion in the 22nd chromosome that can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delay and learning differences.
Diagnosing 22q11.2 deletion syndrome after the child is born can be difficult. Non-Invasive Prenatal Testing (NIPT), like Panorama™, can screen for 22q11.2 deletion syndrome and other microdeletions to help prepare parents before birth.
Panorama™ is a simple, safe, and highly accurate screen for common genetic conditions in the baby’s DNA as early as 9 weeks of gestation. Panorama™ analyzes the baby's (placental) DNA through a simple blood draw from the mother’s arm.
For more information about Panorama™ and non-invasive prenatal testing, please visit LifeLabsGenetics.com/Panorama

[@marja914]

My daughter is 44 now. She was diagnosed at the age of 25. The most difficult part in her case are the psychoses.

[@muller3641]

Yes, my daughter was diagnosed at age 3 delayed development and on the autism spectrum. She progressed well at a special school where her needs were met. Her psychiatric issues/ psychosis came out of the blue starting at puberty and caused her to regress in development in her teenage years, including cognitive development. It was hard for everyone, and getting the right diagnosis and mix of medication took trial and error. She is 27 now, needs supervision and care support and still on mental health meds, but happy and enjoying life.

[@marja914]

@@muller3641 I am glad that she enjoys her life. My daughter lives now in a ‘twenty four hours’ care home. We live in The Netherlands and I am so great full for a the help they can give her. I wish you and your daughter the very best 🌷🌷

[@TheIsisryan13]

Oh my God me God continue to grant you the strength I am a father of a 18-year-old with the same problem it is a challenge however they are natural bonfighters

[@shannongoodman2618]

22q here with a son who has 22q as well. With Congential athymia. Almost 2 years old! ❤ I’ve always been on the spectrum.

[@abby-sl]

My little sister has 22q and her story is alot similar to your sons, the moment she was born she was basically blue and was rushed into open heart surgery

[@batlevi2247]

I have 22q and it's common for 22q kids to have open heart surgeries

[@ctbsancho2516]

My 7 yr old son has 22qi and also has condra displaysia punctada. Thank you for sharing.

[@nishantaug]

I see my child in yours. Mine is a mixed bag as well. Every other month some new issue crops up in addition to his delayed gross motor milestones and severe constipation. There are lots of behavioural issues as well.

[@MagicMerlin688]

Isint 22 deletion same thing as velo cardio facial syndrome?

[@agussugiyanto1542]

Yeah. It is

[@traviswright136]

I have this.. but not exactly… it’s 22q but I have no physical symptoms.. my son has it and now my newborn daughter… my son is 1… not sure what’s to come for either one but I hope they make out okay.. my oldest son..5.. has high functioning autism…. I don’t know what to expect from the future.. but I am hoping for the best

[@BrosRorn]

22A11

[@AlfredoHernandez-gc6cl]

My name is alfredo Hernandez 32 years old age personality and velocardiofacil syndrome most common after Down syndrome and I get frustrated when they people cannot understand Alfredo Hernandez what I am saying

[@JuicebyJay]

I understand what you are saying, sir. Have a great day today. I'm sorry it took so long for someone to respond!