{"id":219,"date":"2023-09-06T03:15:52","date_gmt":"2023-09-06T02:15:52","guid":{"rendered":"https:\/\/narratingteddysremarkablelife.com\/?p=219"},"modified":"2023-09-06T03:24:18","modified_gmt":"2023-09-06T02:24:18","slug":"diagnoses-explained-vacterl-association","status":"publish","type":"post","link":"https:\/\/narratingteddysremarkablelife.com\/index.php\/2023\/09\/06\/diagnoses-explained-vacterl-association\/","title":{"rendered":"Diagnoses Explained Series: VACTERL Association"},"content":{"rendered":"\n

In this post series, I will explain each of Teddy\u2019s diagnoses in detail, with more medical terms and imaging if I am able to find them. These will be more technical posts, but for those interested, we hope it will educate more people on these rare conditions, so as the rate increases each year, there are more people out there familiar with these diagnoses who can help and educate themselves and others. Please feel free to ask questions and I will do my best to address them.  For today\u2019s post, most of the technical information is copied directly from the Children\u2019s Hospital of Philadelphia website: VACTERL Association (VATER syndrome) | Children’s Hospital of Philadelphia (chop.edu)<\/a><\/p>\n\n\n\n

Over the course of Teddy\u2019s first month of life, the doctors were able to start identifying all of Teddy\u2019s anomalies and he was diagnosed with VaCTERL Association. VACTERL association, sometimes called VATER syndrome, is a group of conditions that occur together. The name is based on an acronym for the affected organs and systems:<\/p>\n\n\n\n

V<\/strong> \u2014 the vertebrae (bones of the spinal column)
A <\/strong>\u2014anus
C<\/strong> \u2014cardiac anomalies
T<\/strong>\u2014 trachea
E<\/strong>\u2014 esophagus (the tube food enters when you swallow)
R<\/strong> \u2014renal (kidney) anomalies
L <\/strong>\u2014limb differences<\/p>\n\n\n\n

VACTERL association presents differently in each affected person \u2014 not all patients will experience the same combination of symptoms \u2014 or the same degree of severity of symptoms. To be diagnosed with VACTERL, a baby must have anomalies in at least three of these symptoms. VACTERL is considered a rare condition. It\u2019s estimated that 1 out of 10,000 to 40,000 babies is born with VACTERL. Because the condition presents in different ways and diagnostic criteria vary, it\u2019s likely the condition is somewhat underdiagnosed.<\/p>\n\n\n\n

There are currently no known direct causes of VACTERL as it affects the development of multiple body systems and takes place early in pregnancy. Scientists suspect it\u2019s caused by a combination of genetic and environmental factors. There is also some evidence that women who have diabetes may be more likely to have babies with VACTERL; however, there is no direct connection.<\/p>\n\n\n\n

There is no one test for VACTERL association, also known as VATER syndrome. Instead, it\u2019s considered a \u201cdiagnosis of exclusion.\u201d That means that when other causes of the birth defects have been ruled out, the remaining diagnosis is VACTERL association. To rule out other causes with similar symptoms, doctors will visually assess the patient and run a series of tests, including genetics. A child must have at least three affected systems out of the seven mentioned above to be diagnosed with VACTERL.<\/p>\n\n\n\n

Indications of VACTERL are varied and affect many different parts of the body \u2014 not all patients will exhibit all of them. Following are some of the most common symptoms.<\/p>\n\n\n\n

Vertebral anomalies<\/span>: As many as 80% of people with VACTERL have defects or anomalies in the bones of their spine, sometimes also involving the ribs. These can include missing or extra bones, extra ribs, fused bones, abnormally shaped bones or curvature of the spine, known as scoliosis.<\/p>\n\n\n\n

Anal anomalies<\/span>: The majority of people with VACTERL association have an abnormal anus, including anal atresia (also called imperforate anus) which means the opening of the anus is missing or blocked. Signs of anal atresia include a bloated abdomen, vomiting, and a lack of (or light and irregular) bowel movements.<\/p>\n\n\n\n

Cardiac anomalies<\/span>: Roughly half of the children with VACTERL association will have some abnormalities of the heart. These can take many forms, but the most common are:<\/p>\n\n\n\n