This blog is all about newborn screening. What it is. Why it is important and even critical. How a positive screening or an incomplete test could affect your new baby. What your next steps should be. Lastly, resources for you to take your next steps.
I hope you find this information valuable. I think it is one of the most important blogs I have written and possibly could ever write.
If you learn something here please share this blog with your mama friends so they can too have the chance to learn and make a more informed choice about their child’s newborn screening.
WHAT IS NEWBORN SCREENING?
Newborn screening is a blood test routinely done between 24-48 hours after birth. The newborn screening blood test screens for many genetic, endocrine & metabolic disorders that are considered to be rare, but if diagnosed early can be cured or treated with early intervention to increase the child’s long term health and quality of life. Early diagnosis and intervention can prevent disability and even death from some of the disorders. Also included in the complete newborn screening process is a hearing test and a pulse oximetry test.
WHY IS THIS IMPORTANT?
Newborn screening is important because the conditions that are being screened for can cause a child severe disability, chronic [long term] health complications and even death. Not only is it important to have the test done but also to have it done in a timely manner. Newborn screening is typically completed within 10-14 days after birth. For some of the conditions, screening can be done as late as one year after birth and with immediate intervention can still yield improvements in the child’s quality of life if diagnosed. Simply stated, the earlier testing is done, the better. The next important thing you need to know about newborn screening is that every state’s list of included conditions have many conditions that were chosen to be left out. Yes, you read that right. Your child could end up with a condition that was excluded from the newborn screening process of your state. What this means is that even though you might choose to do the testing, the testing is not as complete as it could be because there are a list of conditions that are being excluded.
IS MY STATE’S LIST OF INCLUDED CONDITIONS IN THE NEWBORN SCREENING A COMPLETE LIST OF EVERY CONDITION?
Sadly, no! 30 core conditions are decided on by the US Department of Health & Human Services which are tested for by every state. Some states choose to include a few more conditions. Every state has an incomplete screening.
Every state’s list of included conditions has many conditions that were selected to be left out. Yes, you read that right. Your child could end up with a condition that was excluded from the newborn screening process of your state.
What this means is that even though you might choose to do the testing, the testing is not as complete as it could be because there are a list of conditions that are being excluded.
Visit your state’s department of health services website for a list of which conditions are included in your state.
HOW CAN I GET A TEST FOR ALL THE CONDITIONS MY STATE EXCLUDES?
Please visit HuntersHope.org. There you can order your complete newborn screenings testing kit. Once you receive it in the mail you simply bring it to your birth or to your pediatrician to have the test done by your provider.
Hunter’s Hope offers 2 options on their site for ordering additional screening. One is for 6 additional lysosomal storage disorders and the other is a 60 disorder complete test including the 6 disorders from their first option.
Hunter’s Hope is a foundation that was started in honor of a young boy, Hunter, who was diagnosed with a lysosomal storage disorder called Krabbe. I recommend you visit their site and read the story of Hunter and the Kelly family and how they are spreading awareness and helping families all over the world.
WON’T MY DOCTOR KNOW SOMETHING IS WRONG WITH MY CHILD WITHOUT HAVING TO DO THE NEWBORN SCREENING?
Many of the conditions in the newborn screening can go undetected for months and months before noticeable symptoms & deficit begin to appear in the child. Without symptoms or developmental deficits, doctors cannot possibly know there is something wrong. The longer the condition goes undetected, the more time there will be for irreversible disease progression to occur. Intervention and treatment can be started once a child is diagnosed, but for many of these conditions, delayed diagnosis causes irreversible damage and even death if the treatment window has passed. Simply put, if diagnosis is delayed because newborn screening is not done, the condition can be so far progressed that it can no longer be treated.
I HAVE NO PRIOR HISTORY OF GENETIC, METABOLIC OR ENDOCRINE DISORDERS. DO I NEED THE NEWBORN SCREENING DONE?
Even with no prior family history of diagnosis of any of the conditions included in the screening process, your newborn could still possibly have one of the conditions.
WILL MY DOCTOR OR PEDIATRICIAN BE GIVING ME ALL THE INFORMATION I NEED TO KNOW ABOUT NEWBORN SCREENING?
When I found out that my state did not have a complete screening disorder list, nor does any state, my 1st baby was 4 months old. So in short, you will not be told all the information you need to know. I do not know the reason for this nor will I pretend to know but I will just say that you will most likely not be told anywhere else that every state EXCLUDES several conditions from their newborn screening list for some unknown reason. What does this mean for you? I’ll ask this one question. If you get the newborn screening done for your baby that includes most conditions, but not all conditions and your baby ends up diagnosed with a condition that was excluded from your state’s testing, would you be okay with that? OF COURSE NOT! HOW TERRIBLE WOULD THAT FEEL? Now that you know every state has exclusions, go share this information with your mama friends! It could save their child’s life! So how do you get a complete testing kit that has ZERO exclusions and includes all the conditions that are left out of the state testing process?
HOW RARE ARE THE CONDITIONS THAT ARE INCLUDED IN THE NEWBORN SCREENING?
There are approximately 200 babies diagnosed each year in the state of Arizona alone and 5000 babies diagnosed across the country each year. These conditions are rare, but early diagnosis is critical!
WHAT CAN I DO WITH THIS INFORMATION?
FIRST. Please let your mama friends know that the current state testing processes are not complete. If they have more questions, you can lead them to this blog post and the resources I have listed at the bottom. No mama deserves to not be completely informed. Mamas deserve to be able to make informed decisions about their child’s newborn screening. Spread the word. It could save a baby’s life.
SECOND. Urge your pediatricians and pregnancy providers to inform their pregnant patients and new parents about this information. Together we can spread awareness. You can also send a letter to your state senator to urge them to fight for complete state newborn screening processes.
THIRD. Order your complete newborn screenings testing kit through Hunter’s Hope. The direct link is given in the resources list below. They have 2 options on their site for ordering. One is for 6 additional lysosomal storage disorders and the other is a 60 disorder complete test including the 6 disorders from their first option.
Hunter’s Hope is a foundation that was started in honor of a young boy, Hunter, who was diagnosed with a lysosomal storage disorder called Krabbe. I recommend you visit their site and read the story of Hunter and the Kelly family and how they are spreading awareness and helping families all over the world.
RESOURCES:
Hunter’s Hope Foundation Supplemental Screening Direct Link
Donating cord blood is free and can be used for the life saving treatment of a child with Krabbe disease. Visit this resource for more information.
Visit your state’s Department of Health Services website for a list of included conditions in your state’s screening process.
Here is a link to the video that first taught me about Krabbe and the problem surrounding the incomplete testing done by the states. Watch it here. Highly recommend watching it all the way through. A mother shares the story of her son who suffered undiagnosed Krabbe and led me to all these amazing resources so other mothers do not have to suffer what she has and lose a child to a condition that could have been screened for and treated early to save lives and allow these children to go on to live normal lives.
