The symptoms of DiGeorge syndrome can vary both in severity and types.
Everyone has two copies of chromosome 22, one inherited from each parent.
With DiGeorge syndrome, anywhere from 30 to 40 genes will be missing.
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The range and severity of symptoms are largely dependant on the types of genes deleted.
In some children, all of the classical features of DiGeorge syndrome will be seen at birth.
Due to the variability of symptoms, genetic testing must be performed to confirm the diagnosis.
This can be tricky since the pattern of deletions can often be so different, even between family members.
They only require a blood sample and are 95% accurate.
Test results are usually returned within three to 14 days.
The key is to identify and address each symptom under the care of a coordinatingphysician.
A geneticist and genetic counselor are key members of the team.
However, many of the characteristic symptoms tend to resolve or become manageable over time with appropriate treatment.
Others, particularly mental health issues, may develop and worsen over timeparticularly those involving psychosis and schizophrenia.
Early identification and intervention can greatly reduce the impact of these conditions.
Unlike some chromosomal deletions disorders, DiGeorge syndrome is not inherently associated with a shortened life span.
Many people can live long, healthy lives and even have children.
There is no known case of both copies being affected (a condition referred to as homozygosity).
To this end, genetic testing is recommended for people whose child has been positively diagnosed with DiGeorge syndrome.
Coping
Having a child with DiGeorge syndrome can be challenging.
Moreover, you would need to manage your own expectations for a disorder that has no clear course.
This can cause enormous stress in parents or guardians who are often teetering between hope and setbacks.
If you are unable to cope, try not to suffer in silence.
Instead, ask a healthcare provider for a referral to a therapist experienced in working with families with disabilities.
By taking care of yourself, you will be better able to take care of others.
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