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Kristina is a young woman who suffers from 22q Deletion Syndrome. It is a rare disorder, but not so rare genetic illness. It is also known as Digeorge Syndrome. 22q Deletion Syndrome is where part of the arm of Chromosome 22 is missing. It occurs in 1: 2148 births. The second most common to Down's Syndrome.
Kristina states," This condition has over 200 illnesses and has the power to affect every organ in one body.
She has suffered from rare medical conditions since birth, starting with her kidneys, and she had a blockage in her right kidney. That led her to be diagnosed with Hydro nephrosis, and Nephrocalcinosis.
The 22q11.2 deletion syndrome is a genetic disorder caused by a missing section (microdeletion) of chromosome 22, which is present from the time a child is conceived. The 22q11.2 deletion is almost as common as Down syndrome. It is present in 1 out of every 1,000 live pregnancies, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems .
22q Signs and Symptoms
Heart Defects/Cardiology
Congenital Heart Defects are present in about 74% of affected individuals. Specifically they most often include: Tetralogy of Fallot (TOF), Interrupted Aortic Arch (IAA), Ventricular Septal Defects (VSD), Truncus Arteriosus (TA), a vascular ring, and other aortic arch differences. Most congenital heart differences are now treated surgically. (Consult a Cardiologist.)
Even if the child does not have a known cardiac defect, an evaluation with a cardiologist is important (although the likelihood of finding a previously unrecognized problem is low). An evaluation may include a chest x-ray, electrocardiogram (study of the electrical impulses of the heart), and an echocardiogram (ultrasound of the heart).
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