In an On Medicine blog, the ojrarediseases presents the winning essay by Zheqing Zhang in beacon for rare diseases and ‘Medics4RareDiseases' 'Student Voice' contest, which has been accepted for publication in the journal.
Credit: Designed by vectorjuice / FreepikWhen we experience symptoms, most of us walk into the clinic or hospital expecting immediate answers. For individuals with a rare condition, the path to diagnosis can span months to decades, with an average diagnostic delay of four to five years. Here, I share the story of two sisters whose diagnostic journeys diverged then converged, reflecting on the impact of these experiences on mental well-being.
Eighteen years later, in August 2018, Sarah began experiencing unexplained neurological and pulmonary symptoms. In March 2019, she suffered a spontaneous pneumothorax. However, multiple examinations ruled out infection, cancer, and lupus. “My brother died from an aortic dissection and I think this is something related.” Sarah remembers saying, but doctors never referred her to a geneticist. Sarah suffered three further lung collapses and a surgery in between.
Ehlers-Danlos syndromes are rare inherited connective tissue disorders. VEDS, the most severe form, is characterised by fragile arteries, muscles, and internal organs, usually caused by a mutation in the COL3A1 gene. Despite VEDS having autosomal dominant inheritance, Sarah’s parents showed no signs of the disease. It is likely that Sarah’s mother had mosaicism, meaning that only some of her cells harbour a genetic mutation, which was passed on to three of her eight children.
For Sarah, grappling with the grief of losing her sister and the lifelong implications of her diagnosis was a mental whirlwind – a strange mix of relief, guilt, anger, shock, and confusion. Arguably, the premature deaths of her siblings were worse outcomes, but they were spared the psychological trauma and survivor’s guilt, which affected Sarah profoundly. She was angry at herself for not pursuing it more, and angry at her doctors for not diagnosing it earlier.
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