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Sitting in the NICU with my husband and son for what felt like the millionth day due to late onset undiagnosed gestational diabetes, (in reality we had been there maybe a few days), we prepared ourselves. Our son needed an echo, and I wasn’t concerned about the echo test or results, he had a slight heart murmur and I knew they were common. What had me shaken up was the day prior I was told his newborn screening test came back positive for PKU ( phenylketonuria).

I had never heard of PKU and my parents who lived across the country were on the phone with me and freaking out themselves which made matters worse for me despite their well intentions. It had to be a false positive, no way my perfect son had PKU. I read a bit about it, and I convinced myself there was no way he had it, I even told a few of my friends it couldn’t be possible. But still, in the little fridge in his NICU room, sat a little container of a special formula that was rushed over incase, and he would be put on instantly if his test came back positive.

The nurse came in to grab my son and prepare him for the ambulance ride. Despite us having a vehicle and the carseat installed and everything ready to go, they had to take an ambulance. Fine. We bucked him in, his chubby little cheeks so cute, and loaded him on the stretcher in the car seat. As we were about to leave the room the nurse said “oh and the geneticist wants to see you guys too, but we don’t have the second results back from the PKU test, they just want to talk to you incase it comes back positive, your appointment is at 2pm.”

The echo went off without a hitch and his murmur was small and not concerning so we were informed we would have a follow up in a few months just to monitor it and he was just fine. Happy with that news we continued on our way to the genetics building, ready to get the news it was a negative test.

The hallway was long, it was full of pictures from doctors in the past who graduated at the university hospital, I think they went as far back as 1929. The walk seemed long and daunting, the nurse was pushing my baby, I resented her for it, it felt like he was held hostage and I had no control or say over him, like I gave birth and now I’m convincing them to let me have my baby, I felt like I was at a long audition since he was born, proving I will be a good mom.

We pushed the black door open at the end of the hallway and found a really short wing with doors on each side leading to the outdoors. I wanted to take my baby and run. I wanted to just get out of there and take him home. The walls all around were grey cement, it was eerie and depressing, or maybe that was just my mood. As someone pushed the elevator button on the right, I heard the ding as it opened its doors. Turning to face it and trying to avoid focusing on the grey concrete wall, I willingly got in the elevator, I wanted to escape that place.

As we finally reached the 8th floor the doors opened. Bright light filled the hallway, the mood around me lifted and it wasn’t such a scary place. The nurse went up to the receptionist and told her we were there, being in the mood I was I wanted to tell her that this was MY baby, MY appointment and she needed to just sit down and let me be the mom. I felt that none of this was her business and that she was taking my place. Of course she wasn’t taking my place or doing anything wrong, but when you are going through a very emotional time, and with hormones going crazy after birth you might not be the most rational. I wanted her to go away, I didn’t how care how petty I was, I had enough of everyone but my husband and son.

We got into the office, it was so warm, or maybe it was my hormones, I honestly cannot remember. The nurse held my child across from me and my husband, He was so beautiful and I wanted to tell them all that this was a waste of our time and leave. If the second test wasn’t positive which I was sure it wasn’t, then why are we here? I was going to politely tell them we did not need to be there, and then be on our way.

The door opened, and in came four or five, heck maybe ten people, I cannot remember, but it infuriated me. We crammed into this tiny room and I was so mad that they all came here to bombard me with what is only a possible situation. The doctor was very soft spoken and started to introduce everyone, I was so overwhelmed that I couldn’t seem to follow along, so I just nodded.

She then was about to start and asked if I was doing okay. “Not really” I replied truthfully, “I don’t understand why we are here if we don’t even know if my son has PKU” I said politely but most likely with some bitterness to my tone. I was ready to say thanks but no thanks and leave. But then my life changed.

“We have the test result and Brantley has PKU”.

I wanted to die. I wanted to run. I wanted to cry. I wanted to scream. I wanted to take my boy and run. I wanted to hide. I wanted everyone to go away and give me a minute. MY son could not have PKU, I wanted another retest. As I sat silently I didn’t hear anything she said for the next five min while they weighed, measured and inspected my child like he was a foreign object being studied.

The doctor started talking to us and explaining what PKU is and how he cannot digest the phenylalanine (an enzyme in protein) and too much phenylalanine in his system for a certain period of time can lead to seizures, and brain damage in infants/children. He would never be able to eat steak (or any meat), dairy (cheese, milk ect), breads bought at regular stores, eggs, ect. How was I going to do this???

I wanted to cry, but I was too full of questions. I wanted to know everything. How did this happen to my baby? Did I do something wrong when I was pregnant? I was so scared. The nurse then pulled out a bottle on enfamil A+ and opened it. I was watching her and thought to myself that there is NO way she is about to give my baby that POISON. We had just talked about how he couldn’t have that right now until the phenylalanine levels in his blood came down and she’s sitting there about to give my baby that?

I cut the geneticist off and asked if he should be having the enfamil A+ and right away a resounding “NO” came from everyone in the room, even my husband who had been sitting quietly grasping my hand tightly the whole time practically yelled it. The bottle was quickly thrown away and a new one was handed to the nurse this one contained his special PKU formula.

As she started to feed my baby, the doctor finished up and shook our hands and left. The dieticians moved up to where the doctor was sitting and introduced themselves, before they started talking the nurse looked at me, and offered me the opportunity to feed my child. I wanted nothing to do with him at that moment. I said no and I couldn’t. I was hardly holding it together and as I looked at him I loved him more then anyone in the world, but I couldn’t hold him, or focus on him, it hurt too much. I think the nurse knew I was hurting though, and what I needed was my baby. I just wasn’t ready.

The dieticians introduced themselves and we talked about his diet. It was a lot to take in and most of it was a blur, I was processing everything around me, I was angry at the world, I was mad we were in the NICU when I felt my baby was okay enough to leave, I was mad he had PKU, I was mad he had to take an ambulance ride instead of going with us, as if to say we aren’t responsible enough. I was mad at the doctor for telling me he had PKU, and I was mad at that sweet nurse who was so gentle and kind, and did her best to do what she could to help me and my husband and child through what little role she had in our lives for this short time.

The next few months were full of stress of my child not eating enough (according to the dieticians), and me being paranoid they would make me bring him back if he didn’t weigh enough at his weekly weigh ins to put a tube down his nose to feed him again. I would get scared and worried if he ate just a little, or if his levels were off just a bit. I pumped my breast milk so the little bit he could have he got, and I froze the rest. All the while worrying that I wasn’t cut out for PKU and what if I failed.

My son is now 8 months old, going on 9 months old in a few days. He is a healthy happy boy. I am a relaxed mom, I have learned that PKU isn’t as scary as it seems. I answer people’s questions regarding it when his diet comes up, and as long as they are respectful I will engage in conversation about PKU (you would be surprised how disrespectful some people can be).

My son is still the perfect little boy that I gave birth to. He is intelligent, inquisitive, active, funny, and most importantly healthy. He follows a strict diet, the most strict medical diet there is, but he is doing okay, and we all are okay. I look back and I still have hurt and anger, writing this made me cry. It feels like yesterday I got the news and my world changed. But the reality is that my world changed when he was born, not when he got diagnosed with PKU, it changed when I became a mom to my beautiful little boy, he’s my world.

Now when I see new mom’s post on Facebook about having a new baby and just finding out their perfect little baby has PKU and the panic in their words, I want to just reach out and hug them and cry with them. It is devastating when you first find out. But if I could tell parents who just received their child’s PKU diagnosis just one thing, I’d tell them that it’s going to be okay, truly and honestly. It will be okay, your child will be okay, you will make it through this, your baby is perfect and beautiful, he or she is still the baby you gave birth to and will grow up just fine on their diet. You got this!

Lots of love to all the PKU families out there and those who help support them. Stay PKU strong

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