Utah’s newborn screening program is expanding to include a new test for Hunter syndrome, a rare genetic disorder. This crucial advancement offers the potential for life-changing treatment options that were unavailable in the past.

Hope for Future Families

The addition of Hunter syndrome to the screening panel represents a significant step forward in preventative healthcare and early intervention for newborns. While the change comes too late for some, it offers hope to families who may be affected in the future.

A Personal Journey

For Mark and Roxann Kristensen, the impact of this progress is deeply personal. Their son, Matt, was diagnosed with Hunter syndrome at age four. He sadly passed away at sixteen.

The Kristensens’ experience highlights the devastating impact of the disorder and the critical need for early diagnosis. At the time of Matt’s diagnosis, treatment options were limited and research was scarce.

The Importance of Early Detection

Utah’s newborn screening program already screens for conditions like congenital hypothyroidism and cystic fibrosis. Adding Hunter syndrome required extensive review and evaluation by state health officials.

Early intervention can prevent life-threatening symptoms, according to genetic counselor Journey Bly. Early treatment minimizes the damage the disease inflicts, emphasized Mark Kristensen.

The new screening allows for the immediate implementation of enzyme replacement therapy, which can mitigate the severe complications associated with Hunter syndrome.

Continuing Support

The Kristensens have channeled their grief into helping others, creating an organization to support families facing similar challenges. Their organization now supports hundreds of families across Utah.

“The experience of losing our son led us to find a purpose in helping others,” explained Roxann Kristensen. They are hopeful the test will eventually identify carriers of Hunter syndrome, though this feature is not currently included.

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