Adalynn’s PKU

By Brittany, PKU, United States, January 10, 2018

Adalynn’s first day of preschool 2017-18

A few days after bringing home my beautiful new baby girl, Adalynn, I received a phone call from her pediatrician. I assumed it was some sort of follow up call, but the smile on my face soon fell after hearing the words, "There are some levels that are off with Adalynn's blood results and we will need to have her seen right away".  With no other details I was left questioning what in the world that call was really about. Was it something serious, or was this just a routine type thing?

We brought Addy in to be seen that day. The doctor told us her blood test showed her Phenylalanine (phe) levels were high and that she could have Phenylketonuria (PKU). He ordered blood tests that needed to be completed immediately. This quickly became something that I was sure was serious and gave me the worst feeling of concern that no mother deserves to feel. 

I hadn't even remembered that Adalynn ever received a blood test. How was this possible? What is happening to my baby girl? These were my thoughts as I sat and watched our little newborn have her little arm poked and blood drawn through a little needle. Before we heard any results, we were contacted my the Genetics Department at Phoenix Children's Hospital and were given an appoinment to be seen by a metabolic dietitian and a genetic specialist as soon as possible. At the appointment, they explained an overwhelming amount of information. Adalynn's newborn screening, the blood test that was done after birth, showed that she possibly had PKU, a genetic metabolic disorder with a 25% chance of occurring when both parents are carriers. This is a very rare disease affecting only about 250 babies per year in the United States. Without treatment, Adalynn would suffer from seizures and brain damage, physically deteriorate and worse. This is because Phenylalanine (phe), an amino acid in protein, cannot be properly broken down in her body, therefore builds up in her blood system and her brain. The newborn screening, completed in the hospital, that I didn’t even notice, had saved my daughter's life. It is a routine test done to every newborn in the U.S. that most parents know nothing about, and most babies pass with no worries.

Adalynn was to start drinking a metabolic formula immediately, as well has have routine weekly "heel pricks" to test her levels of phe, to be completed from home. Over a short time, she of course was diagnosed with PKU and we learned she was not ever to be allowed to eat any high protein foods because protein contains the amino acid, phenylalanine (phe). This of course includes meat, beans, nuts, grains, but most every single food item has an amount of protein, which made it seem nearly impossible to compose a diet for a growing toddler, child, teenager and adult. She would be allowed fruits, vegetables, and some starches, like cereal, that we would have to strictly track by measuring with a gram scale and not to reach over a certain amount of protein per day. The metabolic formula she drinks daily provides her protein needs, minus the phe. 

Today Adalynn is three years old and is super healthy physically, loves her formula, and is doing great with her low protein diet. She is enrolled in a special education preschool class and has a communication/speech delay. She also is struggling with some emotional and behavioral issues, but is developing wonderfully at her own pace.  PKU has become a part of us and it just seems somewhat normal now. Addy will continue to see her genetic specialist and metabolic dietitian regularly, take home blood tests, and follow her strict diet always. She is now allowed seven grams of protein per day. The journey we have been through since that phone call from the pediatrician has been stressful, emotional and also quite amazing. I have learned about so many strengths I never thought I had and I have seen the strongest kid I know grow before my eyes. I am thankful every single day for newborn screening to exist today. I would not have my happy, smart, beautiful little girl as she is today without that little heel prick saving her life. 








Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Share your story

(To find the english name and more information about your disease, click here)