Event Raises $6K for Boy with Multiple Sulfatase Deficiency

 

When Stormi Vanden Bosch and Tyler Scotting found out they were expecting another son, they were thrilled. On October 31st, 2019, they welcomed their son Baylor to the world. But just a few hours after Baylor was born, Tyler and Stormi got frightening news – their son was bleeding in his head. After further care and testing, the parents found out that Baylor had a rare lysosomal storage disorder called multiple sulfatase deficiency (MSD). 

Since then, Baylor’s family and community have been working tirelessly to provide him with the best care possible. According to The Globe, the 2nd annual Baylor’s BBQ Bash, held on June 5th in Round Lake, MN, was raising funds to assist the family with travel, doctor, medication, and equipment costs. The event offered a silent auction, food samples, games, a buffet, and more. More than one hundred people attended Baylor’s Bash, raising just about $6,000. 

This is especially important as, according to the Baylor’s MSD Battle Facebook page, Baylor has been struggling lately with heart problems, high blood pressure, muscle issues, and reduced platelet counts. The doctor has suggested palliative care. If you would like to contribute to the family, you may also donate through the GoFundMe page

About Multiple Sulfatase Deficiency (MSD

As explained above, multiple sulfatase deficiency (MSD) is a rare genetic lysosomal storage disorder which primarily affects the brain, skin, and skeleton. Only around one hundred patients have been described in medical literature; Baylor is considered to be one of twenty children in the US with MSD. SUMF1 gene mutations cause MSD. The condition is inherited in an autosomal recessive pattern, meaning patients must inherit one defective gene from each parent. Normally, SUMF1 helps activate sulfatase enzymes within cells, breaking down mucopolysaccharides. Since sulfatase enzymes play a big role in bodily functions, this activation loss causes numerous health issues. 

Multiple sulfatase deficiency may be classified as neonatal (the most severe form, which presents shortly following birth), late-infantile (the most common form), and juvenile (the rarest form). Symptoms may vary based on forms. Some symptoms may include:

  • Enlarged spleen and liver
  • Coarse facial features
  • Hearing loss 
  • Scoliosis (abnormal spinal curvature) 
  • Developmental delays
  • Glaucoma
  • Feeding difficulties
  • Abnormal breast bone development
  • Dry, scaly, itchy skin
  • Mental or developmental regression
  • Heart malformations
  • Impaired speech and motor skills 
  • Seizures

Unfortunately, the prognosis for MSD is not currently promising. Many people with this diagnosis survive only a few years following symptom manifestation.

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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