Girl with Kabuki Syndrome Has Waited 3 Years for Knee Surgery

 

When the COVID-19 pandemic swept the world, nobody knew what the short- or long-term effects would be. Now, a few years into the pandemic, we’ve begun understanding some of the impacts – but it is still important to acknowledge the ongoing issues. Many individuals still struggle to receive adequate care, doctor appointments, or medication access. The Penticton Herald tells the story of nine-year-old Zoe Rivet, whose inability to receive knee surgery due to an ongoing medical backlog has left her in significant pain for the past three years. 

Zoe’s Story

At just nine months old, Zoe was diagnosed with a rare multisystem disorder called Kabuki syndrome. Like some others living with Kabuki syndrome, Zoe has hypotonia (low/weak muscle tone). This has led her to undergo multiple surgeries. 

When Zoe was six years old, following bilateral hip surgery, she began experiencing higher levels of pain and more impaired mobility. Eventually, doctors learned that Zoe’s kneecap had dislocated; Zoe would need additional surgery for this. 

But days passed. Then weeks. Months. Now years. The medical backlog in Ontario has affected nearly one million people. While Zoe’s surgery has been scheduled, it has repeatedly been rescheduled and pushed back. At this point, Zoe remains on the waitlist for knee surgery – but nobody knows when relief will come for this young girl. 

Zoe’s mother, Danielle Rivet, hopes that her day will come soon. It’s hard for Danielle to watch her normally positive, bubbly girl struggle with pain. Zoe more frequently requires mobility aids and needs additional assistance getting around. 

While some MPPs and doctors are pushing for the government to provide more assistance for patients in the form of funding, scheduling, and staffing, families like Zoe’s are still left without options. 

What is Kabuki Syndrome?

Kabuki syndrome is a rare congenital disorder characterized by multiple abnormalities including skeletal abnormalities, growth delays, short stature, distinctive facial features, and varying degrees of intellectual disability. It was first described in medical literature in 1981. Currently, researchers know that either KMT2D or KDM6A gene mutations cause Kabuki syndrome. While there can be familial occurrences, which often occur in an autosomal dominant pattern, most cases of Kabuki syndrome result from spontaneous gene mutations. 

This disorder is variable in symptoms and severity. While this is not an exhaustive list, symptoms and characteristics of Kabuki syndrome can include:

  • Arched eyebrows and long eyelashes
  • A broad nose with a flattened tip
  • Large and misshapen ears
  • Long eyelid openings with outward-turning lower eyelids
  • Growth deficiency 
  • Rapid and involuntary eye movements
  • Drooping of the upper eyelids
  • Hypotonia
  • Microcephaly (an abnormally small head size)
  • Seizures
  • Poor sucking ability
  • Gastroesophageal reflux
  • Difficulty absorbing or digesting nutrients 
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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