Family Raises Zellweger Syndrome Awareness

Kris and Carla Thompson were so thrilled when they learned that they would be expecting a daughter. When Lucy was first born, Carla describes her as a cheeky, upbeat, and happy baby. As she grew, Lucy was always laughing – and she brought so much joy to those around her. But according to the Irish Sun, everything changed when Lucy broke her leg. Suddenly, a number of concerning symptoms appeared and – eventually – Lucy was diagnosed with Zellweger Syndrome at eleven months old. 

Lucy’s Story

When Lucy first broke her leg, she was placed into a cast for a 3-week period. During that time, her parents noticed that Lucy was not building muscle strength or tone. Then, she suddenly regressed developmentally. She began experiencing muscle spasms, was unable to sit up or hold up her head without assistance, and began having feeding difficulties. 

Eventually, Lucy underwent genetic testing to determine if she had some sort of genetic disorder. Carla was absolutely shocked to learn that Lucy had Zellweger syndrome. Neither her nor her husband had ever heard of this condition before. 

When Carla asked what would happen to her daughter, the doctors gave her one simple piece of advice: to take Lucy home and enjoy their time together as much as possible. To Carla, this felt horrifying at first. How long would they have left? For weeks, Carla felt a deep pit of sadness in her stomach. 

Then, suddenly, Carla’s perspective shifted. She began questioning why she was mourning her daughter while Lucy was still there. So Carla tried to remind herself that every child is different; while Zellweger syndrome could be fatal within a year for some, others lived for much longer. All she could do was make her and Lucy’s life as good as possible. 

Right now, Lucy and Kris employ the help of two trained nurses from the Jack and Jill Children’s Foundation, and highly appreciate the help. They don’t know what the future will bring – but for now, they’re just enjoying their time with Lucy. 

About Zellweger Syndrome

Zellweger syndrome is a rare multisystem genetic disorder which falls on the Zellweger spectrum. Although the spectrum contains other conditions such as Refsum disease, Zellweger syndrome is considered to be one of the most severe. A diagnosis is typically given at birth and, for many, Zellweger syndrome is fatal within one year following birth. Around 70% of cases result from PEX1 gene mutations. However, mutations in PEX2, PEX3, PEX5, PEX6, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26 have also been implicated in this condition. Symptoms can (but do not always) include: 

  • Hypotonia (low or poor muscle tone)
  • Lethargy
  • Central nervous system (CNS) malfunctions 
  • Failure to thrive
  • Cataracts
  • Glaucoma
  • Skeletal abnormalities
  • Poor or absent reflexes
  • Intellectual and developmental delays
  • Abnormally large spleen and/or liver
  • Nystagmus 
  • Feeding difficulties
  • Distinct facial features such as a flattened face, broad nasal bridge, extra skin folds on the neck, and a high forehead
  • Seizures
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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