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