22q11.2 - DiGeorge Syndrome

  
22q is a genetic disorder caused by the deletion or duplication of between 30-40 genes in the middle of chromosome 22 also known as 22q11.2.  

Referred to as a rare genetic condition, however it's the second most common chromosomal syndrome next to down syndrome, it is unfortunately not as rare as the little-known name it is referred as.

DiGeorge syndrome is estimated to occuring in 1 of 2000 - 4000 live births for (Deletion Syndrome) and 1 of 4000 live births for (Duplication Syndrome).

Described as the most common genetic syndrome you've never heard of, everyone with 22q is affected differently and most children with the condition survive to adulthood and enjoy a relatively normal life span and independent life. 

However 22q can lead to a range of health issues which can affect the quality of life and even shorten a lifespan.  Congenital heart disease is a common concern as well as defects in the palate, along with many other common issues such as kidneys, immune system, endocrine system, weak muscle tone can be affected in those suffering with the 22q syndrome.  

Children with 22q present learning difficulties and are often misdiagnosed as being on the autistic spectrum.


  


22q Deletion Syndrome


Studies have shown that although some of the developmental symptoms may be similar, the causes of these symptoms are quite different.  This common misdiagnosis often leads to 22q patients receiving the wrong kind of care and support with potentially a disastrous effect, because of the different treatments offered can be as varied as the root causes themselves.

Children with 22q often develop other medical issues particularly concerning mental health issues which could otherwise have been properly treated with early intervention if diagnosed correctly.

Mental health issues are very common among patients living with 22q particularly if diagnosis is misdiagnosed.  22q patients mental issues often present themselves at a much earlier age than the general population.
There is a lack of familiarity of 22q not only among parents and educators but also those in the medical profession, practically in health professionals in general practice.  Because of this, many symptoms go unnoticed until they have been already progressed considerably, which can have a terrible impact on the patient, their family, as well as affect them in employment, quality of life and mental well being.

Early detection of 22q provides the opportunity of early intervention and management of the condition which can significantly improve the quality of life in patients and their families.




22q Duplication Syndrome

2nd Annual 22q Halloween Spooktacular At Knotts Spooky Farm

Join Us for our 2nd Annual 22q Halloween Spooktacular event on Saturday, October 12, 2019 at Knotts Spooky Farm.  This is an event you do not want to miss for our 22q Family and Friends.  Tickets are limited so purchase today...

Included in your ticket purchase:

Knotts Berry Farm Theme Park Admission
All you Can Eat Lunch Buffet (Menu on Event Page)
Costume Contest
Prizes
Goodie Bags
Raffles
Peanuts Characters in attendance

Limited Tickets avaliable - Purchase Today

Location:  Knotts Berry Farm Theme Park located at 8039 Beach Blvd., Buena Park, California 90620

Time:  Park Opens at 9am-5pm (Ticket Does Not include Knotts Scary Farm Evening Event)

Lunch: 11am-1pm located at Spurs Chop House inside Knotts Berry Farm in Ghosttown

Tickets:  Adults $55.00 (Ages 12-Above) /  Juniors $45.00 (Ages 3-11)  / Children under 3 FREE

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