A Bad Dream

When the pediatrician called, I assumed it was routine.

I thought she was following up before the long holiday weekend. Our newborn had RSV and was in the Emergency Room two days earlier.

They must want to make sure she’s okay before they close the office for New Year’s.

But she wasn’t calling about RSV.

She was calling about something much more frightening.

I couldn’t wrap my head around it.

“Her newborn metabolic screen, the second one, done in our office, came back abnormal….”

Newborn Metabolic Screen? Abnormal? But nobody has those diseases.

With the exception of PKU—I had seen the warning on Coke bottles—I had never even heard of the other conditions the screen targets.

“We need to repeat the screen as soon as possible. Can you get to our office in the next fifteen minutes?”

Now? But we have a follow up appointment in a week.  She’s been through so much. We, as a family, have been through so much. Can we just do the test then?

“No, we need to repeat it sooner.  First thing, when we reopen on Tuesday. Can you come then?”

But why? What is this?

“If she starts vomiting or seizing, or seems unresponsive over the weekend, you need to go straight to Children’s National Medical Center. Don’t wait. Tell them you had an abnormal screen, that her C5 levels were elevated. They can call us—we have the information. Don’t go to another hospital. This needs to be Children’s.”

And that’s when it finally hit me.

This was real and serious and terrifying.

It was longest weekend of my life. Waiting. Researching. Agonizing.

Learning everything I could about Isovaleric Acidemia, or IVA.

It is a rare genetic disease that prevents affected individuals from breaking down certain amino acids. It can, according to the National Institute of Health, lead to seizures, coma and death. It may also cause permanent developmental delays and, as a number of websites stated, “mental retardation.”

I looked at my baby all weekend. My beautiful, perfect newborn. She had put on over 2.5 pounds—a phenomenal amount of weight for a breastfed baby—since she was born. My little girl who, at 4 weeks, kicked RSV’s ass.

And I couldn’t fathom that this was happening to us.

I was living in a fog, a nightmare.

I also discovered that, for every diagnosed case of IVA, there are a number of false positives in the newborn screening process.

I clung to that. I prayed she was one.

And I watched her. Constantly.

I worried over every spit up. Every nap that seemed too long. Every lip tremor caused by her immature nervous system.

Finally, Tuesday arrived. We went to our pediatrician, and they were able to run some, but not all, of the tests we needed.

They referred us to Children’s Medical Center, to a geneticist, for the remaining tests.

I left a message with the Genetics department immediately.

These cases are so rare the office doesn’t even have a person answer the phone.

And then, as I stared at the paperwork from our pediatrician, I saw something.

The name, and phone number, of the individual in our state’s Newborn Metabolic Screen department.

A resource, a person, who was an expert in this.

I knew she wasn’t expecting to hear from me, that parents don’t normally reach out to her.

But our family needed to know. Quickly. We couldn’t live in suspended animation, worrying and watching and waiting to find out if our daughter was sick.

And, fortunately, the woman who answered the phone understood.

She called Children’s Medical Center for me.

And a resident called me immediately.

The geneticist wanted to see us the next day.

The next day.  A specialist wanted to see us the next day.

They could run all the tests. We would have answers, at least some of them, within 24 hours.

Going to Children’s Medical Center, with my one month old, was surreal.

The wind was blistery; the day cold. I was exhausted and scared. As I pushed the stroller off the elevator, past the wall of artwork made by pediatric HIV patients, I felt like I was watching a movie. Like I wasn’t really there. This wasn’t me, wasn’t my daughter.

But the doctor and the nurse practitioner we saw were comforting and knowledgeable and calm.

They reassured me about the false positive rate. They told me, given her weight gain, they didn’t want me to stop breastfeeding her. They looked at my daughter and laughed at her chubbiness. They agreed she was the picture of health.

And they ran the tests we needed. Stat.

I will forever be grateful for them.

They called that afternoon—the same day we saw them—with the preliminary results.

“Her levels look normal. No sign of IVA.”

No sign of IVA.

A week later—last Friday—they called me with the final results.

Normal.

She is a false positive.

Our nightmare was over.

And I breathed again.

 My heart goes out to all of the families who face the challenges of children with IVA and other serious diseases. I objected to the second screen at my doctor’s office, felt it was unnecessary. How wrong I was. If she had had IVA, the screen might have saved her life. For more information on comprehensive newborn screening, please visit the Save Babies through Screening Foundation.