This afternoon, the ACHDNC will vote on whether or not to add Krabbe disease to the federal Recommended Uniform Screening Panel (RUSP).

Here are the written comments I submitted:

Dear members of the ACHDNC, 

In May 2023, I gave public comments regarding the decision made in February 2023 to not add Krabbe disease to the RUSP. Those comments are below for reference as I believe they are still valid today as you prepare to vote. Essentially, I asked that the members of the committee be willing to consider that a mistake had been made and that the committee be willing to listen to understand what the Krabbe disease community and the experts were saying. 

In the time since those comments were made, an Expedited Review Process was created. Krabbe disease was the first condition to be considered under the new process. It seems to our community that this is an acknowledgment that a mistake was indeed made, and we appreciate the humility if this is accurate.

The rare disease community relies on you to help us save children born with treatable conditions. We adhere to your requirements and trust that you will do what is right when presented with the opportunity. We still believe this can be true, but the trust has been broken for many of us and we are hesitant. Will our hard work be fairly considered when we submit additional conditions?

I am encouraged by the recent listening sessions and hope that the problems mentioned will thoughtfully be addressed. The rare disease community has valuable insights into how this process can be improved, modernized, and prepared for the future. All we ask is that you continue to listen and recognize the value we provide to the work you do.

As we often say, Newborn Screening isn’t just a test, it’s a system; we as rare disease parents and advocates are part of that system and we want to be part of the success that will come from making important and common sense changes to it.  

In closing, to quote my May comments, please remember this as you vote on whether or not to add Krabbe disease to the RUSP: My daughter’s name should be on that list (of those who received a transplant) along with hundreds of others who suffered needlessly. It should have been our decision, our story to write. But a lack of Newborn Screening for Krabbe Disease wrote our story for us.   

Please let us write our own stories. 

Lesa Brackbill

Krabbe disease mother

Leukodystrophy Newborn Screening Action Network

Comments from May 2023:

Good afternoon. My name is Lesa Brackbill and my daughter, Victoria, died from Krabbe Disease in 2016. I can assure you that I speak today from more than just the parental perspective – I know the science, I know the data, and that has informed what I will say today.

One of the greatest lessons I have learned in recent years is the concept of listening to understand. I have learned to approach different perspectives with humility, a willingness to be wrong, and an acknowledgment that others know more than me about some things.

I assumed that membership on this committee meant a commitment to open-mindedness, to science, and to acknowledging that others know more about certain conditions than members of the committee do, which is why nomination packages containing hundreds of pages of evidence are required.   

As I watched the proceedings on February 9th, I listened with the hope that justice would finally be served, and with faith that the system would work properly. And that’s not what happened. 

Instead, I watched in disbelief as the afternoon unfolded and people with a known bias against screening for Krabbe Disease (one of whom published a paper about it) were placed in charge of the benefit/risk analysis. I watched as misinformation was shared about diagnosis and treatment. I observed as the committee asked questions amongst themselves that they couldn’t answer instead of asking actual experts to clarify and inform. 

What I learned on February 9th is that even the best systems are susceptible to failure.

We in the advocacy community are encouraged to trust you, to allow the “evidence-based process” to work instead of legislatively mandating that conditions be added. You ask so much of each rare disease group – both in time and in money, which can be millions of dollars – before nominating, and we comply because it seems like the right thing to do. So what are we supposed to do when that process is overridden by bias, neglects evidence, and ignores statutes? What do we say when the goalposts are moved mid-consideration? What are we supposed to do when the parental perspective is completely ignored? 

One of the most frustrating things I heard on February 9th was that the treatment was too risky because of a 10% chance of mortality – which isn’t even an accurate number per published data. It’s 5%.  For Krabbe and many other rare diseases, the alternative is a 100% chance of death. Most importantly, it is NOT your job to decide for parents – it’s the parents’ choice to take or not take that risk. You decided on February 9th that parents can’t handle this decision and robbed them of the opportunity to try. That is an experience I wish on no one.

Here today is a beautiful child named Lily who was transplanted after being diagnosed with Krabbe. Her parents have no regrets. Ezra’s parents have no regrets. Emmalynn, Tygh, Reagan, Gina, Michael, Owen, Grayson, Arthur, Cloud, AJ, Nico, D.J., David, Joshua, Jackson, Faith, Degan, Zoey, William, Jeremy, Elmer, Laura, Jhyrve, Scarlett, Jasper, Lexie, Ashleigh, Belle. 

None of their parents have regrets about pursuing a transplant. They are grateful they had the choice, though many of them had to lose a child to save one.

This is not an exhaustive list of names and it’s certainly shorter than it should be. My daughter’s name should be on that list along with hundreds of others who suffered needlessly. It should have been our decision, our story to write. But a lack of Newborn Screening for Krabbe Disease wrote our story for us.   

I’m grateful that most of you haven’t lived this nightmare of child loss. I urge you to listen to those who have, and to the scientists and clinicians who have spent decades with Krabbe. 

For the sake of the Krabbe Disease community and for all the rare diseases that will follow in hoping to see their condition added to the RUSP, I ask that you consider what I have said today, but mostly I hope that you will humbly be willing to admit that perhaps you were wrong. Lives are literally depending on it.

Victoria Ruth Brackbill
07.30.14 – 03.27.16