Help! What's Next?
This is no doubt a challenging and scary time. We are here to help you navigate what is next in your child’s health and story. Here’s what you can expect in the days and months ahead:
We can help!
Diagnostic Confirmation
- NBS screen positive genetics and MRI are not enough
- Blood & urine tests – simple and quick. Needed to access therapy
Are Clinical (Observable) Symptoms Present?
NEXT STEPS: Pre-symptomatic or Newborn Screening
NBS/pre-symptomatic?
- You have some time … gene therapy needs prep, but you have several months to do so.
- Need a focal point doctor to write orders and reach out on your behalf… pediatrician, OB, pediatric neurologist
- Have him/her order diagnostic confirmation
- Have your doctor Contact MLD CoE
- Diagnostic Confirmation. A more thourough blood test with targeted genomic sequencening will be performed to eliminate the possibility of a false positive as well as to determine the type of MLD they have. This may also be confirmed with testing of the parents to confirm them to be carriers.
NEXT STEPS: Symptomatic
If symptoms of MLD are already visible in the clinic (motor skill issues in infants, motor or cognitive issue in juveniles & adults) then there is a sense of urgency to determine if your loved one can benefit from a therapy.
- Need a focal point doctor to write orders and reach out on your behalf… ideally a neurologist, but a pediatrician, or generl practitioner will work in the near term to get things rolling.
- Since symptoms are showing in the clinic and you are learning about MLD, it’s likely you have genetic test results or a MRI. If you don’t, that’s OK, we will get you r loved one expedited to diagnostic confirmation.
- We can help to optimize time, energy, and focus on the proper next steps.
- Diagnostic Confirmation. A more thourough blood test with targeted genomic sequencening will be performed to eliminate the possibility of a false positive as well as to determine the type of MLD they have. This may also be confirmed with testing of the parents to confirm them to be carriers.
NEXT STEPS: Pre-symptomatic or Newborn Screening
NBS/pre-symptomatic?
- You have some time … gene therapy needs prep, but you have several months to do so.
- Need a focal point doctor to write orders and reach out on your behalf… pediatrician, OB, pediatric neurologist
- Have him/her order diagnostic confirmation
- Have your doctor Contact MLD CoE
- Diagnostic Confirmation. A more thourough blood test with targeted genomic sequencening will be performed to eliminate the possibility of a false positive as well as to determine the type of MLD they have. This may also be confirmed with testing of the parents to confirm them to be carriers.
- Learn about MLD. Take some time to learn about MLD and treatment options including gene therapy. To read information a bout MLD, you can find more at MLD-101. We also have a video overview of MLD.
- Connect with MLD Experts. Find a regional specialist or connect with some of the nation’s foremost experts on MLD.
- Build a local MLD care team and support network. This can include your PCP, various specialists, your family and friends. Find people you can lean on for tangible and emotional support as you begin this new chapter.
- Investigate Available Therapies. In conjunction with your care teams, learn about various therapeutic options to provide your baby with a good quality of life.