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Want to add a leukodystrophy to your state's panel?
If you’re wanting to have a leukodystrophy added to your state’s newborn screening (NBS) panel but aren’t sure where to begin, we’d like to help! These three pillars of newborn screening advocacy: 1) Know Your Disease, 2) Know Your State, and 3) Know Your Story will help guide the process. It can seem intimidating at first, especially because things vary from state to state. We’ve compiled some data to help you determine the best course of action for your particular state, and we’re here to help if you have additional questions!
It’s important to learn as much as you can about the disease. How often does it occur in the population? What effective treatments are out there? Is there an accurate test available for newborn screening? We’ve compiled a great collection of resources for you here. We’ve also created a list of typical objections and responses for you here. The most important thing to know is: for a leukodystrophy to be considered for newborn screening, there needs to be a valid newborn screening test and evidence of viable, effective treatments.
Information and data that will be helpful to learn:
- With what frequency does the disease occur in the population?
- What does the disease look like? How does it affect the patient?
- What treatments are currently available? How effective are they in treating the disease?
- Does a newborn screening test exist for the leukodystrophy?
- If YES, is the test accurate and accessible?
- If NO, collaborate with doctors and scientists to develop a test first. This usually means raising funds for research. Then, work to get newborn screening added to the state’s NBS panel IF effective treatments are also available.
- How much does the state spend on healthcare for affected individuals?
- How much could the state possibly save if the leukodystrophy is detected at birth and treated early, as opposed to the medical costs incurred for an affected individual later on?
States often point to limited resources (money), as the primary barrier to expanding the NBS panel. However, most health plans cover NBS testing (more information here). You can also make the argument that screening for this disease will ultimately save the state money. Healthcare for medically fragile children is extremely costly. Early detection and treatment saves lives and money.
Another helpful research assignment can be: find other affected families in your state to join you. Because rare diseases are just that – rare – it can seem to be a “waste of time” to some officials/legislators. By showing that it isn’t just affecting your family, you can gain traction quickly.
You want to know as much data about the disease as possible so that you can answer questions the decision-makers may have, especially if they aren’t aware of the leukodystrophy landscape. You are the one living with this reality. You will often know more than they do about this leukodystrophy, and what’s happening in the research and treatment world.
State NBS Advisory Board
First, determine if your state has a NBS advisory board (Check your state here). In most states, advisory boards are made up of doctors, geneticists, and other experts who ultimately decide which diseases are added to the NBS panel in that state. If your state has a NBS board, find out when they meet by looking online or by contacting a board member to introduce yourself and begin the conversation. Plan to attend a meeting (or many). Ask to present your research and your story.
LDNBS held a webinar with Newborn Screening advisory board members that may be helpful to you.
If your state does not have a NBS advisory board, speak with the NBS division of the Department of Health (DOH) for your state. Tell them that there is a rare but treatable terminal illness that also has a newborn screening test. Present the data you collected when you learned about the disease’s associated science and statistics. Share with them how newborn screening might have changed your life. If the DOH isn’t helpful in getting the condition added to the screening panel, or if you learn that funding is required, it may be time to pursue legislation, but we recommend that this be a last resort.
Another helpful resource is the state’s Rare Disease Advisory or Advocacy Board. Often, some of the members are on both the NBS Advisory Board and the Rare Disease Advisory Board, and they will know exactly what you need to do to add leukodystrophy to the state’s newborn screening panel. Communicating with the Rare Disease Advisory Board will help guide your next steps, and make connections that support your advocacy efforts.
If there is no NBS advisory board, and the state’s NBS division of the DOH isn’t helpful, turning to legislation can be an option. This essentially means getting a bill passed into law that requires newborn screening of your disease. Such a process entails 1) choosing a state legislator to carry your bill through, 2) creating a bill together that outlines why newborn screening of your disease should be required, and 3) passing this bill into law with a majority vote. None of these steps is easy. But we are here to support you through the process. Before choosing a state legislator to introduce your bill, consider the following:
- Does your state legislature have a rare disease caucus? A caucus is a group of legislators who are jointly committed to a cause. Rare disease caucus members can assist in creating and introducing your bill. But even if they choose not to introduce your bill, they can still be extremely valuable resources. They know how to draft and pass legislation concerning your interests. You can find state-specific information here (link to map or to state data).
- Which party is the majority party in your state’s legislature? If possible, choose a legislator within the majority party, Democrat or Republican, and approach them about introducing legislation (some states are so partisan that they will not even consider a bill from the minority party). This gives your bill the best possible chance at being passed into law. This does not have to be your personal legislator, the one that represents your specific district, but this might be a good idea as they are typically willing to take up causes of their constituents.
- Research other past NBS bills in your state to see how long it took, what obstacles previous families trying to pass a law may have encountered, etc. Here are a few examples (legislation examples).
- Consider using the media to your advantage: television news networks love the perceived drama between citizens and their government. They may be willing to run your story and that can help put pressure on the legislature to take action.
- Rally your network to contact their legislators in support of newborn screening for your disease. You can simplify the process by creating a template of what to send legislators. And there are tools out there that can automatically fill in a legislator’s contact information based on someone’s address (The Action Network, for example). Send the template to friends, relatives, and more, and ask them to contact their local legislators voicing support!
- Create a tracking system. Many states have large legislatures and it can be overwhelming. Having a good system for tracking will allow you to easily recall the last time you spoke with a representative, their response, relevant committees they are on, etc.
Be prepared that this may be a long process no matter which route is best in your state. Some states move quickly, while others move slowly (Indiana introduced, passed, and had their Krabbe NBS bill signed in 33 days; Louisiana families are still trying to have theirs implemented many years later), and it’s easy to feel defeated. The work you are doing is important and will save lives! You are not alone – we’re here for you every step of the way!
The final step is to be ready to tell your story. If your leukodystrophy has a valid NBS test and treatment, your personal connection to the disease is what will motivate decision-makers to act. These decision-makers may come in the form of NBS Advisory Board members, state legislators, rare disease caucus members, and more. Present your disease journey. Here are some tips on where to start.
How would newborn screening have changed your life and the lives of your loved ones?
Be honest. If you’re the parent (or family member) of an affected child, talk about how NBS could have saved your child, but instead you’ve had to learn to live without them. Tell them that you feel robbed because you didn’t have the opportunity to even try to save their life. Show them pictures of your child. If you’re not the parent of an affected child, but rather a caretaker, relative, friend or ally who wants to advocate, talk about why you’re passionate — why this is important to you. Tell the stories of the affected individual who inspired you to take action. Your voice matters!
Take some time to write out your story before you even begin researching your state’s process. Once you write out your story, share it with people you trust and get feedback. Practice presenting it to them so you grow comfortable sharing your narrative. When you speak with your state’s NBS Advisory Board, or are preparing a testimony to help pass legislation, this practice will help you communicate clearly why this leukodystrophy should be screened for.
Click here for an example of families testifying and sharing their disease journey. Lesa Brackbill and Vicki Pizzulo are both mothers of children affected by globoid cell leukodystrophy (Krabbe). In the linked transcript, you can read the testimonies they gave in front of a committee of the Pennsylvania House of Representatives. This also shows what you may come up against. For example, Lesa gives a rebuttal at the very end of the hearing and is able to refute the misinformation. Much of the “data” that was given in opposition to screening for Krabbe wasn’t accurate. That’s also why knowing your disease, knowing the science and statistics, is incredibly important. Coupled with your example of how newborn screening might have changed your life, this will influence decision-makers to support you.