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Oklahoma Fact Sheet

For Kristal, newborn screening for MLD would have impacted her life significantly. She witnessed her beautiful little girl Katelynn screaming in pain for months until a diagnosis led to answers. The doctors initially chalked Katelynn’s behavior up to personality, but Kristal knew something more was going on.

Katelynn was born a seemingly healthy, perfect newborn. She hit most of her milestones, including rolling over, crawling, and talking. She had a 100-word vocabulary by the age of one! Cognitively, Katelynn was testing six months above her age, but her fine motor skills were delayed. She had trouble walking and went into physical therapy at 15 months old.

Eventually, her minor walking issues turned into a full-blown gait
abnormality. When her pupils completely dilated at 18 months of age, she was referred to a neurologist. In September of 2010, just before her 2nd birthday, the official diagnosis came in: metachromatic leukodystrophy (MLD).

The doctors treating Katelynn had never treated a child with MLD. They
told Kristal to take her home and let her die. It took Kristal doing her own research to find the treatments and interventions that made Katelynn most comfortable. For Kristal, what was most heartbreaking was watching her daughter trying to understand why she couldn’t do something she’d been able to do for so long. Kristal could tell that Katelynn knew that something was wrong.

 

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