Having a new baby is an exciting time. You’ve probably taken your baby home and spent lots of time loving them already admiring how normal and cute it is. And then, a phone call comes, you go to the doctor, and you are told your beautiful baby has screened positive for MLD. MLD, what’s that?
Your world is turned upside down and likely you have feelings of panic, uncertainty, urgency, and grief.
We are glad you found us … we’ve been in your shoes and know exactly how you are feeling.
We can connect you with experienced knowledgeable resources to answer your questions and guide you efficiently through the next steps.
NEXT STEPs
- Learn about MLD – We know you are Google’ing MLD that’s probably how you found us here.
- Quick video – MLD Overview
- MLD-101 … Learn more about MLD here
- Diagnostic Confirmation – Click on DIAGNOSTIC CONFIRMATION (below) for more information
- MLD Experts – Get connected with MLD experts
- Local team – Build an informed local MLD care team
- Investigate Therapies – Learn about and consider therapeutic options for your baby to lead a disease-free life
and an expert will help you through these next steps.
A positive newborn screen result needs to be confirmed to be 100% sure your baby has MLD, and to try to identify what form of MLD they have.
NEXT STEP – Get a formal Diagnostic Confirmation.
Screening and Diagnostic confirmation … what’s the difference? Newborn screening is a high throughput public health screening program using dried blood spots to identify babies with certain medical conditions. Most modern MLD NBS programs have second and third-tier testing to minimize false positives while allowing no false negatives. A Diagnostic Confirmation is a very specific and more detailed test of your baby usually using whole blood and urine or targeted genomic sequencing to eliminate the NBS false positives, confirm MLD, and in many cases identify the form of MLD your baby has which is important when making therapy and clinical care decisions. Some of data used in a formal Diagnostic Confirmation may come from your baby’s NBS screen.
to someone who can help.
NEXT STEPS
- What is MLD?
- Quick video – MLD Overview
- MLD-101 … Learn more about MLD here
- Diagnostic Confirmation – MLD needs to be confirmed and the form of MLD identified to make informed clinical and therapeutic decisions
- MLD Experts – Get connected with MLD experts
- Local team – Build an informed local MLD care team
- Therapies
- Learn about MLD therapies and which one might be right for your baby
- Call us at +1 503-656-4808, email us at NBS@MLDfoundation.org , or click below to share your contact information and we will quickly get back to you:
NEWBORN SCREENING FOR METACHROMATIC LEUKODYSTROPHY
After nearly a decade of work, an MLD newborn screen has been developed, tested in de-identified pilot studies, and is now being used for identified baby pilot studies.
The current screening flow consists of three in-lab screening tests … blood sulfatide levels, ARSA enzyme levels, and genomic sequencing … to try to eliminate false positives before the family is notified.
ANNOUNCEMENTS
MLD newborn screening launched in parts of Germany (summer ’20), and parts of New York state (May’21).
Learn about the MLD Newborn Screening initiative to implement MLD newborn screening in your state, province, and/or country … how to share your thoughts for the clinical care & therapeutic decision tree, family referral and notification process, build out this web resource, and more … click here.
THE NUMBERS SPEAK
We see this incidence worldwide – with some people groups having a much higher incidence
Most are misdiagnosed or diagnosed only after symptoms – when therapies do not work.
Half will be the late infantile form that needs treatment in the first few months of life.
Newborn Screening will allow every one of the babies to be identified and offered effective life changing therapies.
If you’re wondering why your baby was NOT screened for MLD, here’s why and what you can do about it:
MLD Newborn Screening is not yet available in most places. Limited coverage pilot studies are starting soon.
In the meantime, we are organizing and empowering a worldwide network of concerned families to call on and help their local public health systems implement MLD Newborn Screening.
MLD is genetic – Testing other family members
- Any blood-related family member could be a carrier and some could be affected. We generally first worry about siblings and cousins.
- MLD is genetic so the easiest test is targeted genetic sequencing.
- You can order genomic sequencing for immediate and extended family members at MLD.Foundation/Sequencing/ … and bonus for those living in the US – it’s free!
It Takes a Collaborative Effort to Implement MLD Newborn Screening in the United States and Around the World
WHAT’S the STATUS of MLD NEWBORN SCREENING in the US?
The ScreenPlus Program, the first identified baby MLD newborn screening pilot study in the US launched in parts of New York in May 2020.
ScreenPlus is a unique public/private collaboration of the NIH, NY hospitals, biopharma, and patient advocacy. At launch there are 14 disorders on the ScreenPlus consented panel.
It is still expected to be the first of several “live” pilots that will be launched in the US and internationally to formally validate the screen in public health.
Data collected by these pilots will be used for the federal US RUSP nomination which will help us launch MLD newborn screening in other states and countries.
HELP BRING MLD NEWBORN SCREENING TO YOUR STATE, PROVINCE, or COUNTRY
Join to help implement MLD newborn screening around the world. Each state, province, and country has different requirements and obstacles. Only by working together can we get this done! Please sign up to be kept updated and/or to contribute to the implementation of this important project.RUSP NOMINATION
The United States has a very comprehensive evidence-based federal review process that leads to a RUSP nomination and approval called the RUSP – Recommended Uniform Screening Panel.
The RUSP nomination package addresses aspects of laboratory, public health, therapeutic options, ethics, cost, screen accuracy, and many more topics. This information will be provided to pursue the implementation of MLD newborn screening in other countries.
Experts have met to define the framework and process to prepare the Nomination.
There will be numerous opportunities for input from all stakeholders (clinicians, advocacy, families, researchers, biopharma, etc.) as the various RUSP Nomination topics are addressed.
IT'S COMPLICATED
If there is one case of MLD in your family then statistically 50% of your relatives in some branches of your family tree might be carriers. Carriers have a 1 in 100 chance of finding another carrier to be there partner/spouse.
When the RUSP was formally adopted in 2005 many states were screening for only 6 conditions – today the states are all screening for at least 30 of the 35 conditions.
In the US, newborn screening is part of each the 50 US state public health sytems, plus the 5 US terrritories and US military.
The RUSP (Recommended Uniform Screening Panel) is a federally recommended list of carefully reviewed conditions suggested for state implementation. We’re working hard to have MLD be added to the RUSP!
When the RUSP was formally adopted in 2005 many states were screening for only 6 conditions – today the states are all screening for at least 30 of the 35 conditions.
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Acknowledgements
Success implementing MLD Newborn Screening requires collaboration. MLD Foundation, a 20+ year old organization focused on serving the global MLD community, is leading the effort and will engage the entire MLD and NBS ecosystems at all stages of the process.
WHAT IS MLD?
Newborn Screening is a pretty good indication, but its not a formal diagnostic confirmation. A quick and simple blood and urine test is required to formally confirm or rule out MLD.
Learn more about the next steps for diagnostic confirmation here.
HAS YOUR BABY BEEN CONFIRMED WITH MLD?
Are you searching for information on therapies and treatments?
We know this is a time of great stress, concern, and uncertainty. We suspect you are overwhelmed with information – some of it inconsistent and much of it very scary. We are here to help.
We are MLD parents ourselves so we know what you are going through. We’ve dedicated our lives to helping MLD families.
So much progress in therapeutic and clinical care has been made over the past few decades, but there are still many very personal decisions you need to make. There are many clinical and therapeutic paths and choices you can make.
We are here to help, provide resources, make introductions to experts, connect you with other families, answer your questions, and be a resource to your family as we walk alongside you on your MLD journey. You are not alone!
Click here (coming soon) to learn about therapeutic and treatment options and to download our parent’s guide coming soon) for the newly diagnosed.
You can also feel free to email, phone, or text us! You will hear back from us quickly.