Trisomy 13, also known as Patau Syndrome, is a rare genetic disorder caused by an extra copy of chromosome 13. The severity of the condition varies greatly between individuals, but it is typically associated with serious health problems. The average life expectancy of those with trisomy 13 is just a few weeks, though some can live up to a year or more.
Signs and Symptoms of Trisomy 13
Those with trisomy 13 often have birth defects, including cleft lip or palate, heart defects, extra fingers or toes, and kidney or urinary tract defects. Other symptoms can include severe mental retardation, crossed eyes, and seizures.
Diagnosis and Treatment of Trisomy 13
Trisomy 13 is usually diagnosed after birth, through a genetic test. There is no cure for the disorder, so treatment consists of managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and medications to control seizures.
Living with Trisomy 13
Living with trisomy 13 can be difficult, but there are ways to make life easier for those affected. Support groups, both online and in person, can provide a source of understanding and comfort. Special education programs can help those with trisomy 13 to reach their full potential. Finally, palliative care can help to provide comfort and improve the quality of life for those with the disorder.