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.
Arkansas currently screens for 34 conditions, including X-ALD.
In 2023, Arkansas passed RUSP-alignment legislation and we were encouraged by that until we read the text of the law and realized that they removed the ability for the Newborn Screening Advisory Board to add non-RUSP conditions. This means that Newborn Screening advocacy has been taken away from Rare Disease parents and families in Arkansas.
You can read the text of the law here.
We are grateful that Arkansas is making strides to improve the NBS program for its residents, and we hope to see meaningful change made in the future.
Learn more about Arkansas’ Newborn Screening program here.
In August 2013, Chance Lyle’s four-year-old daughter, Emma, started losing her balance more frequently and needed help walking down the stairs and feeding herself. Up to this point, Emma was independent, well-spoken, and a perfectly healthy girl in her father’s eyes. Chance sought out medical guidance and support to get to the bottom of her symptoms.
By December, Chance received a phone call from Emma’s mother confirming the life-changing diagnosis of Metachromatic Leukodystrophy. Emma was confirmed to be eligible for a bone marrow transplant by the Children’s Hospital of Pittsburgh in January 2014. Chance decided to pursue this treatment for his daughter, and from February to September the family relocated from Arkansas to Pittsburgh.
In March 2014, Emma spoke her last words right before the transplant occurred. After the transplant, Emma’s quality of life was not great, but Chance does believe that the transplant helped to slow the progression of MLD. Emma could still laugh, even if she lost her speech ability. She was on a strict schedule with her medications and was immunocompromised, both of which made it difficult for Emma to continue school.
Emma loved all things girly, like painting her nails, lip gloss and princesses. After her transplant, Chance still dressed her up as a princess for trick or treating and took her to the beach.
On August 28, 2017, Emma passed away after being on hospice for a month or so and being in and out of the hospital the entire year.
Chance had no idea what MLD was before his daughter was diagnosed and to watch Emma suffer for four years was unbearable. Newborn screening would have made a huge impact because they could have sought treatment much sooner. He would never wish this upon his worst enemy and that’s why he advocates.
Tenessa and Stephen Jr. welcomed their daughter, Lucille, into their lives in October 2017. She was happy and healthy, smiled frequently, and everything seemed to be normal. A few months later they began to notice that Lucille could not hold her head up and wasn’t interested in eating. They took her to the emergency room and were told she had a virus.
After a couple of days, Tenessa and Stephen took Lucille back to the hospital and pressed for admission to the Children’s hospital. This request was made because of an urging from Tenessa’s mother, who recognized the signs of Krabbe disease before the doctors did, out of her own experience with losing a daughter to the disease. Once Lucille was admitted, the doctors ordered tests and bloodwork and initially believed that she had colic and a milk allergy.
By this time, Lucille had stopped eating, smiling, moving her hands and legs, and her muscles were tense, and her parents knew it was serious. When the geneticist met with them to deliver the results, he confirmed that the true diagnosis was indeed Krabbe Disease. Tenessa remembers being scared and devastated by the news that their four-month-old daughter was dying.
A few weeks later Lucille would be readmitted for a g-tube and was then set up with hospice care because there was nothing that could be done.
Lucille passed away in March 2019 and left her parents with only photographs and memories.
Tenessa and Stephen advocate for Newborn Screening for Krabbe disease because it would have given them more time with Lucille and given them options for treatment. They want to help other parents avoid the journey they faced, and Newborn Screening can make that possible.
Download Lucille’s 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!