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.

Newborn Screening Gets Personal: My Niece’s Positive Screen | www.aphlblog.org

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.

There are 7 comments for this article
  1. Pat at 5:16 pm

    Dear Michelle,

    Thank you for sharing the first chapter of Sloan’s story and for reminding us of the many blessings from newborn screening.

    Cheers,

    Pat

  2. Nicole Merrifield at 8:01 am

    Michelle,

    As a PKU patient, I can certainly relate to this story for I have heard many times how terrified my parents were when they first learned of my diagnosis. Living with PKU takes some work, but it’s totally doable. I went off-diet at the age of 12 (something medical professionals do not approve of nowadays), but thankfully because of a mild form of PKU, I have managed to lead a productive life. Only in the past 6 months have I returned to the low-protein diet in the hopes of taking-on maternal PKU. Despite a hard lifestyle change, I have been surprised to learn how much low-protein food options and formula flavors have improved so much over the past 10-20 years.

    Sloane will grow-up to be an amazingly bright, intelligent young lady and she will have you and her parents to thank.

    All the best,

    Nicole Merrifield
    http://www.pkuparlor.com

  3. Lisa at 12:08 am

    Hi , my name is lisa, i to understand how terrified her parents and your self must of been. I have classical pku. I do thank god everyday that i was diagnosed at birth and i was able to get on the low pro diet. I till this day ask myself how my parents did when i was a baby and child but they did and i thank god for that everyday of my life. Your niece will grow up to be an amazing young lady and very smart. I have been back on diet since january to have a baby myself and im doing so well with it and hopefully soon i to will be having a baby. i was so terrified of having a baby being i have pku. i stressed about it for along time because i wasnt sure if i wanted to put my child through what i went through. i know by saying some people may get mad at me but it is true. i actually got my husband tested to see if he was a cartier of the pku gene and i prayed and he was not a carrier! i was so happy to hear this news that i told my husband i could have 10 kids right now..hahaha, not that i would but it was a great feeling that our baby will not have pku but it will be a carrier of the gene. Thank god for newborn screening! I dont wish this diet on anyone. God bless that beautiful baby girl!

  4. Lisa Carey at 1:04 pm

    My name is Lisa,
    I live in New Jersey and was diagnosed with PKU as a newborn! Thank goodness for Newborn Screening it saved my life and has been saving many others as well. I currently 28 years old and I have been with my husband now for almost 9 years. Living the life as a Classical PKU patient has been difficult I won’t lie, things could have been worse. Thank goodness for the newborn screening and my parents taking such good care of me and to my PKU specialist and nutritionist from Cooper Hospital. They are amazing and have been working with me my whole life. I met my husband when I was 19. When meeting my husband I was off diet as I was living in denial that not being on diet would affect me, worried if others would judge me. I didn’t eat meat, eggs, chocolate or the really bad stuff, but just didn’t take my shakes, keep track of my daily food in take or do my levels once a week as needed. 2 months after meeting my husband at the time was my boyfriend, we found out I was pregnant. Not planned and as having PKU and being pregnant is very crucial to the developing fetus. I was terrified. I didn’t know I was pregnant until 10 weeks, at the point baby has already taking on the risky part. We decided that taking the chance and having a child born with a risk of mental retardation was not what we had wanted. We then decided to unfortunately dismiss the pregnancy as we met with my PKU specialist with my levels being so high she had told me it was my choice, but to know that the chances of our baby being born without any problems was a slim chance. We did what we thought was right. For years we grieved over what could’ve been. We took the right steps in meeting with a genetics counseler. We were doing everything as reccomended by my specialist in hopes to one day have a baby. I went back on my diet over 2 years ago…. Going strong it only took me a month to get back on diet. Weighing/measuring all my foods, taking the proper amount of formula as prescribed by nutricianist, and doing weekly levels on my own. Everything was going amazing… They were shocked on how quick I was able to get my levels down! In march 2013 I found I was pregnant, unfortunely I lost this pregnancy at 7 weeks. Again, we were extremely upset and greived. Again, in June 2013 without trying we found out I was pregnant again! Things were going great it wasn’t planned and it happened. First ultrasound went great seen our little one, then at our 12 weeks ultrasound they said baby didn’t make it past 7 weeks. I’m considered a high risk because of my PKU and now because of 2 miscarriages. We had to do D&C for this pregnancy. We did genetic testing as our PKU specialist requested. Fortuntely this miscarriage was a fluke (2 sperms entered the egg) happens .001 % of pregnancies. We also found out we were pregnant with a little girl. After all the stress of these two pregnancies I still managed to maintain my diet and very successfully. With seeing a new OB with hopes of a fresh start… We tried several months to conceive. We just found out May of this year 2014 we were pregnant now for a 4th time. I am now 29 1/2 weeks pregnant with a little girl named Ella Ann Carey due to arrive 02/16/2015. With all the struggles of having Classical PKU, I never have up hope. Yes I’m different and it was a roller coaster, but just for that everything my Specialists, doctors and family have done to keep me healthy I never gave up. Being pregnant with Classical PKU is a challenge. Having to do my levels 2xs a week, talking to my nutricianist 2xs a week, adjusting my formula intake and protein intake… It’s a lot but I will tell you this the specialist and nutricianist are amazing and really go out of their way for me. I also had my husband tested to see if he was a carrier w
    For PKU. My biggest fear was to know my son or daughter would have to go through what I went though… Not only that but a daughter to have to go through being pregnant with PKU and try to conceive one day! Thank goodness my husband is not a carrier. Ella will be born PLU FREE , but will defeneitly be a carrier for the gene.

    Please know Sloane is one lucky little girl, but also know that living the life with Classical PKU is manageable and she could’ve grown up just fine with the right care and parents determined to keep her on track. If it wasn’t for my parents and doctors I wouldn’t have this chance to have a child of my own or even live a normal life. I would love to talk to others with PKU and those who have been or currently pregnant. God Bless Sloane and thank you for sharing her story it helps spread awareness of the newborn screening and how important it is for every newborn to have this screening done!

  5. Diane Fish at 6:30 pm

    Imagine just arriving at a new base in Italy, eight months pregnant, and then when the baby is born, finding out that he has PKU. The base hospital, being unfamiliar with PKU, sends you to an Italian hospital. Not only was my daughter dealing with a new language, hospitals are run quite differently there. My grand baby received excellent care, but I can imagine how stressful it was to figure out everything concerned with PKU in a foreign country. She has a blog about her adventures with PKU, Italian hospitals, military wife life, and her own battle (won, thank you Lord) with stage IV cancer as a young mom. http://awildfloweringodsgarden.blogspot.it
    I’d love to post a picture of my sweet grand baby for you.

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