Katie's Story
The Invisible Burden of Care
I live with rare, complex, and often poorly understood conditions that have undoubtedly shaped every stage of my life. The physical challenges have been significant, but the hidden burden has been the uncertainty, embarrassment, and quiet fears that have followed me throughout my life.
Childhood was marked by severe constipation, repeated bowel washouts, and painful interventions. Medications often triggered cramping and overflow, while severe faecal impaction required manual evacuation under anaesthesia; procedures that left both physical and emotional scars.
My repaired TOF left me with ongoing swallowing and breathing difficulties. Food frequently became lodged in my oesophagus, and my distinctive TOF cough drew unwanted attention. Although I was told I was “fixed”, problems were often attributed to me.
“Chew properly,” they said when food became stuck.
“Stop being naughty,” when I soiled myself.
I learned early to carry quiet fears: Would I soil myself? Did I smell? Would people notice?
As a teenager, I faced discussions about returning to a colostomy and avoiding further urogenital reconstruction, for fear of damaging anatomy that was fragile yet functional. Later gynaecological investigations revealed additional abnormalities that explained my infertility.
A hospital admission for a suspected ovarian cyst revealed two litres of fluid trapped within the lining of my fallopian tube, an abnormally small kidney, and Bertolotti syndrome; a congenital spinal condition in which the lowest lumbar vertebra forms an abnormal connection with the sacrum.
A rectal prolapse led to my first defecating proctogram MRI. The radiographers were surprised by my anatomy and initially frustrated when I was unable to retain the contrast medium. Thankfully, the scan revealed the extent of my abnormalities and provided the evidence needed to guide the colorectal team’s care.
While some infants born with these rare conditions have malformations identified in the early days and weeks of life, in my case the full picture has emerged gradually over time
Living with rare congenital conditions has meant carrying burdens that are often invisible to others. Beyond the surgeries, procedures, and diagnoses lies a lifetime of uncertainty, resilience, and determination, shaped equally by challenge and by the ability to keep moving forward.
Recently, I was asked how I have coped, how I appear to be well, and how I manage daily life with so many anomalies. Much of this foundation was shaped early in life. I was fortunate to have parents who were strong advocates for me. They were not overly protective, but instead helped me understand my conditions and encouraged me to speak up, ask questions, and fight my corner, never afraid to challenge decisions or ask for help when needed. The answer is simple: this is my normal.