Today is a big day for the Krabbe community!
The committee (HRSA) that decides which conditions are added to the federal Recommended Uniform Screening Panel (RUSP) voted UNANIMOUSLY today to move Krabbe forward to the next step (which takes 6-9 months): full evidence review! Once the committee reviews the data and evidence, they will vote on whether or not to add Krabbe to the RUSP. Once that happens, eight states (and counting) will automatically add Krabbe within 2-3 years because of the EveryLife Foundation‘s efforts with RUSP-alignment legislation.
We are one step closer to having every baby in the United States screened for Krabbe at birth!
I wanted to share the public comments I submitted in support of this decision here, as my blog has always been where I record our Krabbe journey:
My name is Lesa Brackbill and I am an advocate for Krabbe Newborn Screening through the Leukodystrophy Newborn Screening Action Network. I never imagined that I would become an advocate, but this calling was forced upon me without warning and I have embraced it.
On February 13, 2015, our six-month old daughter – Victoria – was diagnosed with Krabbe Disease. Her diagnosis changed the trajectory of my life in more ways than one. On diagnosis day, we learned that her condition could have been treated had they screened for it at birth, but since Pennsylvania did not screen for it, we were robbed of the opportunity to try to save her life. It was too late.
At that moment, in the midst of devastating grief, my new calling was given to me, and my political science education – and prior experience with lobbying – finally made sense: I wasn’t supposed to change the world by being a politician – all of this was simply to prepare me to advocate for conditions like Krabbe to be included on each state’s NBS panel and to save lives by doing so, in memory of Tori.
I didn’t seek to add Krabbe to Pennsylvania’s NBS panel through legislation; rather, I sought other necessary reforms to the NBS program itself. I worked in conjunction with the PA NBS Technical Advisory Board to ensure equal access, equitable treatment, and cost-reduction overall, correcting the inadequacies present. It took six years and three different bills, but our third attempt at reforming our NBS program was a success in November 2020.
As a result of these efforts, all babies born in Pennsylvania are now screened for 63 conditions (and counting), every hospital screens for the same conditions, and we are in alignment with the RUSP. Most importantly for our family, Pennsylvania has already identified four babies with Krabbe (in the first seven months of screening), giving them a chance at life that our daughter did not receive.
You may be aware that a paper was recently published by doctors in the state of Virginia regarding their decision to not add Krabbe. A group of stakeholders (myself included) responded to the paper publicly, but I wanted to point out my observation that the paper was filled with apologies for the disparities within their NBS system rather than substantive reasons for why they didn’t add Krabbe. Ten states are screening without issues, and I know the remaining states can do so thanks to the experience of the first ten.
I’m writing to you today to ask for your vote to move Krabbe into full evidence review. While we are grateful that ten states are now screening for Krabbe, it’s not enough. State borders shouldn’t determine life or death for these precious babies.
The test works, the treatments work, and gene therapy clinical trials are underway. It’s time to see Krabbe be added to the RUSP so that fewer families have to go through all that we did and so that families are presented with options instead of a death sentence. Please help make this a reality today.