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.
Arizona screens for 35 conditions, including one type of Leukodystrophy – X-ALD.
In 2021, Arizona passed RUSP-alignment legislation; in 2022, they increased the Newborn Screening fee to allow for additional conditions to be added, but they are still not caught up with the RUSP.
Arizona has an NBS advisory board that gives parents an opportunity for advocacy, even if the condition for which they advocate is not yet on the RUSP.
Learn more about Arizona’s Newborn Screening program here.
Kendra and Dave’s youngest daughter, Keira, was born in 2020, around the time that one of their other daughters, Olivia, started having trouble walking. Originally, it was thought that Olivia simply needed physical therapy. Then, she began having problems with vision and hypermobility. After getting an MRI, the first neurologist told them nothing was wrong. Thankfully, the Rileys decided to get a second opinion.
Three days later, the second neurologist informed them that he believed Olivia had MLD. Follow-up testing confirmed his hunch. Kendra and Dave were crushed. On top of that, testing for their youngest daughter, Keira, revealed she also had MLD. Processing this news and seeking care during a global pandemic was a uniquely challenging experience for the family. However, the diagnosis Keira received as an infant enabled her to get specialized support in the form of gene therapy early on.
Despite the family’s struggles, all three sisters continue to bring joy and light to their parents and love spending time together on Olivia’s Make-a-Wish swing set. And Kendra and Dave now devote their time to supporting families like theirs and raising awareness of MLD and newborn screening. You can read their blog here.
Download the Riley’s Arizona Fact Sheet here.
Max was born on February 6, 2014, to parents Allison and Josiah. He was healthy and such a happy baby, always smiling. At his six-month well-check appointment, the doctor noted that he was a little delayed with some milestones. Around eight months of age, they began to notice that Max was struggling to sit up straight, he was a little fussier, he stopped grabbing for things, and he wasn’t rolling.
At his nine-month well-check, the pediatrician told them to take him to the emergency room because his breathing had become a little more shallow and something was off. An MRI was performed and they were sent home with no real answers other than he had some vanishing white matter. The pediatrician arranged for Allison and Josiah to meet with a genetics doctor the following week where they did blood work to test for some rare disorders.
At the next appointment, the geneticist walked in with two neurologists, and with the worst possible news – Max had a leukodystrophy called Krabbe disease. The doctors told Allison and Josiah to take Max home and make him comfortable. Max quickly lost his eyesight but he loved superheroes, music, and his older sister, Emma. He would always look in her direction when she was around.
Allison and Josiah created a bucket list for Max and experienced many great things with him.
Newborn Screening for Krabbe disease would have given the Barnetts an opportunity to have Max treated and to have given him a chance at life.
Download Max’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!