Michigan Family Shares Son’s Experience with Sanfilippo Syndrome

Seven years ago, David and Amber Negele married. The pair couldn’t wait to begin their blissful wedded life together. Just a few years after their marriage, David and Amber decided to start a family. And lucky for them — they got twins! The parents describe two and a half year old twins Jack and Benjamin as completely different: one the wild child with infinite energy, the other content for relaxation and lots of love. But another thing separates the twins from a medical standpoint, and that is Jack’s Sanfilippo syndrome type A diagnosis. 

Jack’s Story

WXYZ Detroit reports that, at birth, there was nothing signifying that something might be wrong with either son. It wasn’t until the twins turned about one year old that their parents began worrying about Jack. He seemed developmentally delayed, not walking, crawling, or speaking at the expected periods. 

Since Benjamin was doing so well, his parents thought that Jack would eventually catch up. But then Amber became increasingly concerned when Jack started “zoning out.” She felt like, at those moments, he wasn’t entirely aware of his surroundings. This began nearly a year-long diagnostic journey. Despite numerous specialist visits, Amber actually discovered the idea of testing for Sanfilippo syndrome on Instagram. After discovering an Instagram post of a child with Sanfilippo syndrome, Amber couldn’t help but notice the similarities to her son. 

With some testing, the diagnosis came. And with it came fear, uncertainty, and anxiety. Currently, there are no FDA-approved therapies for Sanfilippo syndrome. Even though enzyme replacement therapy (ERT) has been effective in other forms of MPS, it has not been found to be beneficial for Sanfilippo syndrome. Although this is difficult for the family, they are hoping that the future brings both an increased understanding of Sanfilippo syndrome and a potential cure. 

Amber, David, and Benjamin enjoy each day that they have with Jack. They take the time to appreciate every hug, every story, every book read. On top of that, Amber and David are committed to continuing to raise awareness and funds to advance reseach towards a cure. If you would like to contribute to the cause, you may do so by donating via the family’s Cure Sanfilippo Foundation page

Understanding Sanfilippo Syndrome (MPS III)

Mucopolysaccharidosis type III, also known as MPS III or Sanfilippo syndrome, is a rare and inherited lysosomal storage disorder. It is inherited in an autosomal recessive pattern, meaning patients must inherit one defective gene from each parent. Altogether, there are four Sanfilippo syndrome subtypes: A, B, C, and D. A is the most severe, and also most common, form, whereas D is the least common. 

Each subtype is defined by a specific genetic variation which prevents the body from breaking down a sugar molecule called heparan sulfate. As this molecule accumulates in cells, it causes the variety of developmental and physical issues associated with this disorder. Symptoms of Sanfilippo syndrome manifest in early childhood and may vary in each particular child. These can, but do not always, include:

  • Developmental delays and/or developmental regression
  • Persistent diarrhea
  • Spleen or liver enlargement
  • Joint stiffness
  • Sleep difficulties
  • Macrocephaly
  • Frequent respiratory infections
  • “Coarse” facial features
  • Hearing or vision impairments
  • Behavioral difficulties
  • Delayed speech
  • Seizures

Therapeutic options and new research are urgently needed.

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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