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 dollars.
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.