For Katy
I produced this short documentary in 2013 to raise awareness of newborn screening. And for the 10-year anniversary of releasing the film I remastered it. It is now airing on the Disorder Channel.
A Message From The Filmmaker
Katy has Phenylketonuria (PKU), a rare genetic disease in which the body cannot metabolize protein properly. Many in the world who are born with PKU are diagnosed at birth because of newborn screening and immediately receive treatment. Katy was not given that opportunity.
She was born in Mexico, and at the time newborn screening was not required. Katy’s parents searched for answers for months after noticing that their daughter was experiencing mysterious symptoms. She was eventually diagnosed with PKU at 13 months of age, but the months without treatment took their toll on her. Katy cannot share her story in her own words, but her parents speak up for her, share her story, and promote newborn screening across the world.
A Message From Katy’s Mother
A lot can change in 9 years, so in 2022 I reached out to Katy’s mother, Michelle, for an update:
“Hi there. It’s Michelle, Katy’s mom. A lot has happened since the release of this documentary and I wanted to catch you up to speed.
Shortly after this, Katy became a big sister to a brother, who was born without PKU. Having different dietary needs doesn’t seem to bother either of them. It is just a way of life for them and a very natural thing. We moved to San Antonio after the birth of our son, where I continued my Journey as a special education teacher.
As of today, Katy is a Junior in high school. She is attending a specialized classroom where she can learn at her own pace. Her development continues to be delayed but that has not stopped her from moving forward. Katy has learned to ride an adapted bike, has joined numerous sporting groups for special needs, can swim and has taken vocal lessons. Katy can speak in simple sentences and will understand when people talk to her. She can also read environmental print in signs or decipher simple checklists and notes.
Despite her limitations, Katy has experienced a beautiful life with many adventures. She has traveled throughout the world, visiting places like Europe, Disney World and many beautiful places in Mexico. Because of her cognitive impairments and her need for extensive support, Katy has not attended PKU camps. However, she has attended many week-long camps for individuals with disabilities.
Katy’s life and struggles have helped to raise awareness in both the United States and in Mexico. Her story has been presented to government representatives and lawmakers in both countries as a way to advocate for the importance of newborn screening and medical foods. You can even catch our story in the national journal “Cambrooke Wellness Journal- Healthy You, Healthy PKU.”
Although life has not unfolded the way we had envisioned, we have learned to embrace the beauty in all that has come our way. Just like you, we are discovering our adventure one chapter at a time!”
Newborn Screening Awareness
I produced this film as an independent project. But Katy’s story has had an impact I didn’t see coming. Later in 2013, I participated in a newborn screening awareness campaign with my friends at the Association of Public Health Laboratories (APHL). We produced a video that included Katy’s story, and it was shown on Capitol Hill to legislators and their aides to promote newborn screening awareness.
2023 marks 60 years of newborn screening in the United States, and so I’m ramping up my newborn screening advocacy again. Currently, as I write this, the Newborn Screening Saves Lives Act Reauthorization bill is stuck in Congress. That needs to change. And in September 2023, I released an episode of my podcast reflecting on reflecting on this milestone in the United States.
Final Thoughts
Katy and I share the same rare disease. The only difference is that I received timely newborn screening, and she did not. But, as Michelle says above, “Despite her limitations, Katy has experienced a beautiful life with many adventures.” And she was born to some incredible parents who are great advocates for her. Producing this film came at a special time in my life, just when I was getting into PKU and newborn screening advocacy. And Katy’s story… I will never forget it.
As long as one baby slips through the cracks, I’m going to keep telling the story of newborn screening.
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