Trying to Enjoy Life with Daughter with Zellweger Syndrome

Unfortunately, doctors and scientists are still learning about Zellweger syndrome, a rare multisystem genetic disorder. But this can be incredibly difficult for families whose children are diagnosed – after all, what comes next? An article in Erie News Now describes how Erica Webster and Dane Bush dealt with the news of their daughter Scarlett’s diagnosis. 

Scarlett had her first seizure within just a month or two following her birth. After her parents pursued testing, Scarlett was eventually diagnosed with this condition. The doctors told Erica and Dane that she could live for 1-2 years – and most likely would only survive for around 6-12 months. Shortly after, Scarlett was also diagnosed with polymicrogyria. Learn more about polymicrogyria.

For now, Erica and Dane are doing their best to enjoy their time with their daughter and honor every moment they can spend together. They also have a lot of gratitude for the support that they’ve received from others. So far, a GoFundMe to help with Scarlett’s medical expenses has raised $7,011. Ultimately, the family is working to raise $20,000 to assist with her care.

To learn more about Scarlett and her family, take a look at their Facebook page

About Zellweger Syndrome

Altogether, there are 13 different genes which have been implicated in Zellweger syndrome development. PEX1 gene mutations are present in around 70% of cases. Zellweger syndrome, which exists under the Zellweger spectrum, is inherited in an autosomal recessive pattern. This means that individuals must inherit one defective gene from each parent. Zellweger syndrome is considered to be a congenital disorder, meaning that babies are often diagnosed at or shortly following birth. Symptoms can (but do not always) include:

  • Hypotonia (low or poor muscle tone)
  • Abnormally large spleen and/or liver
  • Liver scarring 
  • Failure to thrive
  • Skeletal abnormalities
  • Central nervous system dysfunction
  • Cataracts
  • Glaucoma
  • Rapid and involuntary eye movements
  • Developmental delays
  • Intellectual delays
  • 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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