Newborn Screening Gets Personal: My Niece’s Positive Screen

By Michelle Forman, senior media specialist, APHL

I work on newborn screening related subjects every day – some days only for an hour, some days it’s my entire focus.  I’ve spent hours on the phone with families who have shared their stories.  I’ve developed friendships with those parents, swapping photos and stories of our children who are close in age.  I thought I had come to understand enough of their experience to truly empathize.  Then I found out I was wrong.  Newborn screening touched my family and I suddenly became closer than I ever wanted to be.

The story was so familiar to me – I felt like I was living one of the stories I had written in the past.  My sister-in-law (my husband’s sister) had a normal pregnancy.  Judith anxiously awaited the arrival of her little girl, who, in breaking one of the cardinal rules of their family, was late.  As we all received the photos of the beautiful chubby-faced baby, we forgave the tardiness.  Here was baby Sloane, the second grandchild, a family’s dream.

Because Sloane was born via C-section, she and Judith were in the hospital for several days.  Her heel prick came and went, a test Judith had become unwittingly familiar with as I have posted story after story on my personal Facebook page.  Like most families, they thought nothing of this routine test.

Wednesday morning it was time for the family to finally go home.  They were in the car pulling out of the parking lot when the phone rang.  It was the pediatrician.  Sloane’s newborn screening was positive for PKU – they ran the test three times, so they were certain it wasn’t a false positive.  They were told to go directly to her office.  Along the way Judith called me.  To say she was panicking would be an understatement.  “What’s PKU? Is it serious? What’s going to happen? Is she going to be ok?”  I told her everything I knew with an emphasis on “This will be hard, but she will be fine.” I choked back tears and hung up.  Was this really happening?  Was my new niece about to become one of my newborn screening stories?  I rushed down to the newborn screening staff here in my office to ask them a million questions, mostly if testing the same bloodspot three times was really enough for the pediatrician to say it wasn’t a false positive.  “Yes,” I was told over and over again.

The pediatrician explained PKU to Judith and Todd, and told them to go see a metabolic specialist the following day for more confirmatory testing.

The next 24 hours were excruciating for them.  I heard from Judith only via brief text messages.  Suddenly their dreams of a perfect little girl had been smashed.  They were terrified of what her life would be like… Would she be able to enjoy her friends’ birthday parties?  Would other kids be mean to her?  Would she be able to go on dates?  “There were lots of tears. This was not how we envisioned what it would be like to bring our new baby home,” Judith explained.

They woke up early to drive into Boston to meet with the metabolic specialist.  They took another blood sample from Sloane, and spent several hours talking with Judith and Todd about PKU and the diet.

Finally the test results came back and something amazing happened – they were given good news.  While Sloane does, in fact, have a form of PKU it is an extremely mild form called hyperphenylalaninemia or hyperphe.  Sloane’s little body has trouble breaking down phenylalanine, an amino acid, but it’s doing it.  People with classic PKU are unable to break it down at all.  Sloane’s phe levels were slightly above normal, but nowhere near as high as a baby with classic PKU.

No one expected this; no one expected a sharp positive turn!  Judith and Todd were relieved.  Sloane will need regular monitoring for the rest of her life, but will likely be able to live a normal life without the strict PKU diet.

What did newborn screening do for my husband’s family?  Well, I can’t quite say it saved our niece’s life.  Without being detected, she may have been fine forever.  But newborn screening has given her and her parents the gift of information.  They know her body operates a little differently from other kids, so if ever something is off they know what to check first.  And if and when Sloane decides she wants to carry a baby of her own, this might be crucial information for her OB to know.

Despite the terrifying 24 hours they faced, Judith and Todd are immensely grateful for this information. My daughter is incredibly excited to meet her new cousin “Soane” later this month.  We are all grateful that she is ok and always will be.

Once everything calmed down a bit, I emailed the newborn screening laboratory director in Massachusetts.  I wanted to thank him and his staff for looking out for baby Sloane.  Her hyperphe is incredibly mild, yet their system detected it… three times.  I am so humbled to work with these amazing programs.

Life for Sloane and her family has been back to normal – well, as normal as life with a newborn can be – for a few weeks.  Although after experiencing something like this, I think a small part of everyone will never be the same.  I know that I, for one, will never read another newborn screening story the same again.