Each week on LDNBS’ social media channels we feature a Newborn Screening state report card and highlight MLD and Krabbe disease families in the state.
California is one of the leading states in the country for Newborn Screening. According to its website, California screens for 80 conditions.
Remember that not all states count conditions the same way, so the discrepancies may not be as large as they seem.
California currently screens for one type of #Leukodystrophy: X-ALD. It is currently missing two conditions that are on the RUSP (MPS-II and GAMT).
In 2012, California passed RUSP-alignment legislation; unfortunately, the law removed the ability to add non-RUSP conditions. This means that Newborn Screening advocacy has inadvertently been taken away from Rare Disease parents and families in California. The good news is that California will be one of the first RUSP-aligned states to begin screening for Krabbe disease!
Learn more about California’s Newborn Screening program here.
Judson Drake Levasheff was born a vibrant baby boy on December 24th, 2004, a beautiful Christmas gift. He had a perfect APGAR score and by all appearances was entirely healthy. Judson met all the milestone markers for babies and children, while even exceeding certain expectations, particularly with his speech.
In many ways, Judson was like any other young boy. He loved the outdoors, seeming to have an uncanny ability to find nearby mud and wind up covered in it. He enjoyed hunting for roly-poly bugs — collecting the tiny crustaceans and then putting them on the sidewalk to watch them slowly unroll and scatter. Every day held something new at the park outside the Levasheff home; Jud could be found swinging, sliding, cooking sand cereal at the playground counter, or reaching out to other kids to make new friends.
However, out of the blue, at the end of May 2007, when he was 29 months old, Jud began stumbling. The body of this bright and healthy two-year-old boy suddenly and rapidly began to deteriorate. Over a period of just 5 months, Judson became completely paralyzed, blind, and mute. In time, it was discovered that his body was being ravaged by Krabbe disease, a form of Leukodystrophy, a genetic disease. On November 7, 2007, the critical functions in Judson’s body shut down and Drake, Christina, and Jessie were left with an unimaginable hole in their lives. Yet, amid his suffering, Judson remarkably modeled faith, hope, and joy.
Drake and Christina have created a foundation in his name – Judson’s Legacy – and continue to encourage, educate, and support others. “Judson’s Legacy is committed to funding research so one day all families who are given the news of Krabbe disease have the hope of life for their child.”
You can learn more about Judson’s story and their foundation at judsonslegacy.org
Newborn Screening would have given the Levasheffs the knowledge needed to pursue treatment for Judson while it was still an option. That’s why they advocate.
(Story written by the Levasheff family on judsonslegacy.org)
Killian Viktorius Christie is a sweet 6-year-old (almost seven!) boy from San Andreas, California. He is the youngest sibling of four other sisters who do not have Metachromatic Leukodystrophy. Killian’s parents became concerned about him when he was unable to balance while walking on his own. Eventually, he gave up on trying to walk. Doctors in the area were puzzled. Killian was eventually referred to a neurologist who ordered a genetic test, and Killian was diagnosed with MLD.
Watching Killian’s frustration with losing his abilities was heartbreaking. Killian was aware that he had skills that were slipping away. Now, he has settled into his new life and lack of mobility and still smiles on some days. Killian is a constant humbling reminder that if he can smile through his tragedy, then we can also make something positive out of every day.
Animals love Killian. The Christies have birds, cats, and dogs who follow him everywhere. Killian also loves hitting the road with his parents and sisters for the stimulation of the vibration from the road, the sound of music, and the vibrant colors of the scenery. His other favorite pastimes include cuddling in bed with Mom and Dad.
Altogether, Killian’s story is one of strength. MLD children are incredibly strong in spirit and they inevitably strengthen the people involved in their short, meaningful lives.
The Christie family would love to see California add MLD to their Newborn Screening panel because they know it would have saved Killian’s life and given them options for treatment, like Gene Therapy. Unfortunately, California only adds conditions that are on the federal RUSP and MLD is not currently on that list, though we hope to see that happen in 2025.
Download the California Fact Sheet here.
We are always looking for more leukodystrophy families to highlight!
If you’re interested in being part of the MLD Story Project, click here and share your story!
LDNBS has developed a spreadsheet of information on each state as well as a “Strategic Plan” for Newborn Screening for Metachromatic Leukodystrophy (MLD) and Krabbe disease – check them out if you’re interested in learning more about Newborn Screening in your state!