Anorectal Malformations – Imperforate Anus – Rectovestibular fistula

Shortly after birth, Iz was whisked away by paediatrics to be examined due to being premature. Thankfully, they observed that she was missing her anal opening – something for which I will be eternally grateful. I cannot imagine having to realize this myself or what may have happened if they had not detected it. They broke the news by telling us that she didn’t have a bum. Upon reaching the hospital for Iz’s surgery, we discovered that she did have an anal opening, but it was too small and in the wrong place. Iz’s actual diagnosis is a Rectovestibular fistula, often referred to as a vestibular fistula. It is a congenital disorder where an abnormal connection called a fistula exists between the rectum (her butthole) and the vulval vestibule (where the vagina and the urethra are housed).

Defects like these occur in the womb early in development. As of now, there is no known cause. These defects may also be associated with other congenital issues, and further tests are often done to check for associations. The acronym VACTERL represents the associations which include Vertebral, Anal (Anorectal Malformations), Cardiac, Tracheal, Esophageal, renal and limb abnormalities. Iz thankfully was ruled out of most of these associations, and her heart anomalies were determined to be minor and potentially due to being premature not due to VACTERL.

The wait for tests and the fear of their findings was unbearable. Learning about Iz’s heart issues through a letter was distressing, and navigating medical terminology online to understand them was traumatic. Eventually, her heart was confirmed to be “essentially” normal and the green light given for her second surgery.

Iz’s condition is categorized as a low anorectal malformation, which means her opening is close to where it should be and her treatment involved urgent surgery to create a stoma to remove built-up waste and provide an ongoing outlet until she gained enough strength for her second surgery. At 17 weeks old she had her new anal opening created and we are due for Iz’s reversal operation soon. We hope very much for a successful outcome but this is a lifelong condition and one which may yet contain a number of twists and turns (hopefully not literally). Stay tuned for future updates on her progress.