VLCAD:: abnormal newborn screening

Now that we have some peace of mind and clarity, I'll update on what we've been going through. 

Emerson had an abnormal newborn screening.

They called us from the pediatricians office the Tuesday after she was born and sent us straight to Vanderbilt.

After a series of blood draws and heel pricks, it was confirmed that Emerson has VLCAD.

VLCAD was fatal prior to newborn screenings but as the geneticist has reminded us, 'we know that she has this and we know how to treat it.'

VLCAD means for Emerson that she cannot use the fats that normal people use.  Her body cannot process very long chain fats.  Where our bodies turn fat into energy, hers cannot use the very long chain fats.  There are a few different levels of this disease, hers being the mild form.  Praise Jesus.

We are still learning about this very rare disease.  The first thing they want to make sure of, is that her heart it healthy.  We had an EKG a few weeks back that was normal and an Echo cardiogram on Friday and the results came back from that today.  Results from that were all normal as well.  Praise the Lord!!!! 

With VLCAD, if her body gets too many very long chain fats, her heart has to work extra hard to try to process them.  Thus enlarging her heart.  If in this echo, or any future echo's, would have shown any sort of enlargement of her heart we will supplement breast milk with formula- a formula containing the medium chain fats only.  Breast milk is very high in fat.  After speaking with the geneticist Friday, and understanding more about what that 'supplementing' would look like, we have decided to continue breastfeeding until the echocardiogram tells us to do differently.  I don't feel it's best at this time to stop breast feeding 'just in case'.  It's a bond I treasure and wish to continue as long as possible.  We will closely monitor her heart for the first 6 months of her life to ensure there is no enlargement.  After that we will begin her on a heart healthy diet with an addition of MCT oil to provide her those medium chain fats.  MCTs are a fat source for patients who cannot tolerate other types of fats.

The second thing they routinely monitor is her CPK enzymes.  This would show any muscle break down.  That blood test was performed on Friday as well and CPK enzymes are all normal.

The danger with VLCAD comes in times of fasting or times of sickness.  If Emerson were to get the flu or a stomach virus or something else that causes her to not eat we would go directly to the hospital.  Her geneticist would then request an iv of sugar water to keep her blood sugar up until she got over the virus.  To me, it sounds like it all starts with her blood sugar.  If we keep that in check in times of sickness, we are on the safe side.  We are all now on high alert for germs and sickness, even more so than before. I don't think God could have given her to a more perfect family as far as germ awareness goes.  If you know me at all, you know that I am a major freak when it comes to germs and sickness.  So, if I ask you if you are healthy if you're coming for a visit or to wash your hands

For now, times of fasting, for Emerson means anything over 4 hours.  So she MUST eat every 3-4 hours around the clock for at least the next year.  At that point we will evaluate how her body responds to no food for certain periods of time and go from there.  So, don't ask me if my child is sleeping through the night yet, cause, that's a no. 

We now have a geneticist, a cardiologist and soon we will have a nutritionist to help with her diet (and ours).  If she's going to be on restriction, we all are.  We could all stand to be on a heart-healthy diet.  I never could have imagined having a team of doctors looking over my child's health but I am thankful for the amazing children's hospital that we have close by and for this group that knows about this disease. 

This is all I know for now.  At least all I feel somewhat comfortable having an educated discussion about.  There are many things we don't yet know.  What her life will look like, only time will tell. Her doctor did say that he expects her quality of life to be excellent and as a mother, you can't ask for more.

Yes, this diagnosis is heartbreaking.  Yes, this could cause some 'disruption to our lives' in the future.  But I am so very thankful for newborn screening and that we KNOW this about Emerson and we know how to care for her the very best we can.

The doctor told us best case scenario would be that we caught this early enough and that hopefully all we will have to do is monitor her through her life but she'd never show any symptoms or complications. 

We are believing in best case scenario.  We ask that you pray for that for her as well. 

 

God has really been working on me lately.  My faith.  Sitting still.  Believing.  But that's for another post.