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Pharis’s Story

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A Simple Heel Prick: Emma’s Story

My Emma was born on a Friday in August, 2017. She has an older brother Elliot, born in 2015.

The first 2.5 days of her life we relished in this blessing before us. On Saturday, we noticed she was shaky. The nurses checked her sugar, and it was within normal limits. We were told that many newborns are shaky due to their nervous systems getting acquired to life outside the womb.

On Saturday night, a new nurse commented on her shakiness and asked if we remembered what the blood sugar was earlier that day. My husband, Alan, remembered incorrectly, said he thought it was around 20, but it was around 60, within healthy limits. 

The nurse replied with a strong, “Oh, she would be in the NICU if it was at 20.” I didn’t know at the time that this would be my first introduction to a metabolic crisis.

On that Sunday around 6:00 pm, her temperature dropped. The nurse said she would return in 15 minutes to check it, but she didn’t come back in 15 minutes. I paged her shortly after. 

By the time she came, Emma was cold and pale with a low temperature. Her sugar level was so low that the reader could not pick up the number. By 7:00 pm, they took her from Alan’s arms and forced a bottle into her mouth that she did not suck. 

She laid limp, unresponsive, cold, and pale. Before I knew what was happening, right there, in that very same room I fell in love with her, they took my 3-day-old baby away.

Logic tells a woman, they were saving her life by rushing her to the NICU. As her mother, it felt as though someone vacuumed the breath out of me. To go from the most “high” moment of your life of meeting your baby, to her being taken to the NICU and you have no idea why — there are just no words to describe that emotion. The word “fear” does not give it justice.

After a few hours, we were able to go to the NICU and see her. As we walked into the sterile room, the sound of ventilators and beeping monitors were deafening in the stillness that is the NICU. 

What had been my crying, healthy newborn was now a quiet, sick newborn in an incubator being kept alive by machines. My mind was in a fog, as the doctor said words like possible meningitis. They ran a 48-hour blood test to rule out infectious diseases.

The doctor held up a medical instrument, looked me in the eyes, and said, “I ran this across her foot and she had no response.” I stared back at her blankly, trying to interpret what she was trying to say to me. She tapped other reflex areas that “should have” given a reaction, but there were none. 

Potential brain damage was now in the realm of possibilities.

My words, the doctor’s words, movements, all of it was in slow motion, like it was a bad dream.

By Monday afternoon, Emma’s blood sugar started to rise, but she was still quiet and not crying. Most of that day, I spent crying. When I wasn’t crying, I was pumping to give her whatever milk my shocked body would produce. 

Later that afternoon, Alan wheeled me out for us to watch the rare total solar eclipse of the sun. I like to think that was the universe’s way of saying big changes were about to happen, and I was right.

On Tuesday, the doctors removed the IV and she maintained her sugar levels on her own. She was crying, awake, and responsive. The infectious disease results came back negative. 

They determined she did not have a seizure and therefore, no brain damage. Things were looking positive! 

We were told it is normal for a newborn’s blood sugar to drop, hours after birth, and called Emma’s dropping at 3 days old a “fluke”. They said she could stay the night in our room, and be discharged the next day!!

Little did I know, in just a few short hours, I would be in a place of preferring an infectious disease that can be cured.

I had just finished a call with my mom, and bought two donuts from the gift shop to take back to our room and celebrate! I even remember the insignificant conversation I had with the young lady working at the gift shop. Alan called me saying there was a doctor who wanted both of us in the room. That should have been my cue that something was amiss, but I was on cloud nine.  

When I got back, Alan and the doctor were standing there with Emma sleeping in the hospital crib. He was a new doctor, whom we hadn’t met because shifts had changed. That made his news that much more shocking. 

He stated the newborn screening results came back, and Emma tested positive for a rare, life threatening metabolic disorder called Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. I couldn’t even pronounce this disorder.

He politely handed us a bunch of papers about it, gave us limited information (as he himself did not know much about it), and said it was imperative that we feed her every 2 hours, around the clock. If not, she could have a stroke, have seizures, go into a coma, or die. 

Life.Changing.Moment.

The following day, we were finally discharged and took our baby girl home, where she belonged. UNC’s metabolic clinic called us on Wednesday and scheduled us for Thursday. 

All day Wednesday, I held onto a sliver of hope that the test was wrong. After all, we had a healthy non-MCADD toddler boy! 

That Thursday, we drove for 30 minutes to UNC for our metabolic appointment, fortunately, very close to us. 

The metabolic clinic is in the Children’s Hospital. We didn’t wait too long in the waiting area. A nurse accompanied us back to a room. It was kid friendly enough, but that didn’t matter — none of the “normal” stuff mattered. 

While in the waiting room, I saw a table with young kids, with masks and no hair, drawing. I saw another child in a wheelchair and I wondered if he had MCADD. The fact that the clinic is in the hospital only darkened the already bleak picture I had, at the time. 

I felt like I had just become a member of a group I never asked to be a part of.

Once we were in the room, 5 people in white coats walked in, and introduced themselves. The main doctor asked a bunch of medical history type questions, then explained that Emma has MCADD.  

Still holding onto the hope of a false positive, I asked her if it’s possible the test is wrong. 

She pulled her rolling chair closer to my seat, never breaking eye contact, pulled out a paper with medical lingo and a bunch of numbers. She pointed to one in particular, looked me in the eyes, and said, “It is this number here that tells me, that indeed, yes, Emma has MCADD.”

Her confidence wiped that sliver of hope right off its plate. At that point, I broke down, again.

We were there for the next 4 hours. They gave us an official medical letter stating the urgency of the 10% dextrose drip that we were instructed to give to ER staff, if eating has become poor. The letter alone, was scary. I honestly could not tell anyone much more of what was said. 

My husband who is very logical, and was my rock through all of this, turned to me when they left the room and he cried as he said, “We should be enjoying this time with our baby girl.”

The management at that age was feeding her around the clock every 2 hours, which meant setting 3 alarms for the first year of her life. 

Had my VBAC happened, that I tried so hard to make possible, Emma and I likely would have been discharged a day earlier, which would put have put us at home, instead of the hospital, on that Sunday. C-section moms stay longer in the hospital.  

Timing is everything with MCADD. The time it would have taken us to drive to the ER, the doctors to figure out what was wrong, brain damage or worse would very likely have happened. BUT, I, we, were still in the hospital, so there was no driving, checking in, etc…. They took her blood sugar and assessed on the spot. 

I can’t wrap my head around the fact that a VBAC birth would have put me, Emma, and my family on a completely different life track, not because of the safety of the birth itself, but because of the discharge date. 

And that track, being a mother to a permanently disabled child or a mother who lost a child.

While MCADD’s management is “easy,” mistakes in timing are unforgiving.

Now, at two years old, she goes 12 hours at night with no food, and we live a happy, active, milestone meeting, fussy, toddler life BECAUSE of that newborn screening test. 

A simple heel prick gave us knowledge that saves her life anytime she stops eating longer than she should or is vomiting ongoing. We know the protocol to take her to the ER, she gets a 10% dextrose IV drip, gets discharged once she’s eating again, and life gets to go on, with my baby girl.

Written and shared with us by Emma’s Mother, Ginny. We’re thankful for you and your family, Ginny!

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Pharis’s Story

Meet Pharis! He was born on April 11, 2019. Pharis was discharged from the hospital the day after he was born, after experiencing unstable temperatures and sugar levels in the hospital. When he and his family got home, his parents knew that something wasn’t quite right. Pharis was very fussy during the night, and then he drifted into a deep sleep. He became very lethargic the following day. He wouldn’t eat, and he felt cold to the touch. His parents checked his temperature and it was very low, so they rushed him back to the ER. When they arrived, his temperature and sugar were dangerously low. Doctors began running tests and giving him medicines to try to help, but nothing was working. Then, his oxygen dropped. Pharis was transferred to a different hospital with a higher level NICU where they placed him in isolation and continued running tests.

On April 16 his parents received a call from his pediatrician asking them to come in as soon as possible because Pharis’s newborn screening came back positive for MCADD. Because Pharis and his family were in the NICU in El Paso, Texas, they became coordinating care with a neonatologist. A second round of testing was completed, and they were again transferred to a military hospital in San Antonio to confer with a metabolic team. While there, the metabolic team taught Pharis’s family about MCADD, how to help Pharis, set up a care plan, and provided Pharis’s family with the medicine he needed.

Pharis remained very sleepy and not as active as he should have been for about three weeks. Pharis’s parents were told by many doctors that had they not taken Pharis to the ER that he would not have made it through the night. Pharis’s mom said, “God was watching over our sweet boy, and we are so thankful that He took care of Pharis during his metabolic crisis. Every day we are reminded that God created Pharis for a special purpose and He does not make mistakes!” Pharis is now 6 months old, doing great, and eating like a champ!

Faith & Magic

Auriana and Evan’s Story Auriana C. was born on March 13, 2012.  Her parents learned of her abnormal newborn screening results by a phone call from her physician several days after her birth.  Around the time that Auriana was born, her father began having medical issues. He was suffering from vertigo, which made it difficult to help care […]

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Rhett’s Story

A Mother’s Joy Turns to Grief in a Matter of Minutes.  Learn about Lauren VanNess’s courageous crusade for the timely diagnosis and treatment of MCADD.   Everett Boone Johnson “Rhett” was born Saturday August 26, 2017 at 8:11pm at Roanoke Memorial Hospital. When Rhett was born he showed no signs or symptoms of anything abnormal. […]

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It’s that time of year again!  The hustle and bustle of a new school year is upon us.  Here are a few tips to keep in mind when sending your MCADDer to school: Plan a meeting with school personnel.  School personnel should include (at a minimum) the school principal,     school nurse, your child’s teacher(s) […]