Aly, Sam, and Anna

What would having coverage for medical nutrition mean to me, to my family? Everything!! The options of being nutritionally satisfied and not hungry without the extreme cost would completely change our lives. It would change the way we plan every day, every meal, every event. Without medical food, my children are hungry. My children cannot grow healthy and normal without medical foods and formula. When my children were young, I was strong, I was positive, I did the work it took to keep them healthy. As they have grown, the reality of how different and difficult our lives are with a strict diet has finally hit me. I continue to do the work, I continue to be positive….. but I am tired. I am tired of making EVERYTHING from scratch. I am tired of weighing everything, making a recipe, dividing it by serving sizes, determining the amount of phenylalanine, and counting every bite. I will continue to do this work, it is worth every minute, every dollar, every tear. Having the assurance of coverage for medical foods and formula would be life changing.

****A poem written by my mother when PKU was very new to us, nearly 24 years ago:

Grandmother’s Thoughts By Veloy Smith

A nurse pokes a tiny heel
and squeezes drops of blood
to fill the circles on the test paper.

The mother’s already tender emotions
are also pricked as she hears her
fragile baby’s cry.
One in ten thousand they tell her—very rare.

The term PKU is familiar to mothers
throughout the developed world.
They endure the routine test—wishing it was
their own foot bleeding instead of their tiny infant’s.

And so they remind themselves this is just a procedure.
One of the stresses that protrudes into the
special time of birth and newborn bonding.

But this week, this ordinary occurrence
suddenly turned our world into unreality.
Granddaughter Alyssa, was the one in ten thousand.

Thoughts were spinning, it wasn’t true.
She’s so perfect now but will she remain so?
My heart ached for the turmoil of a daughter and son-in-law.
Anger, fear, denial, and hurt were all mixed together.

They searched for understanding.
Those knowledgeable were waiting for them—
to teach, support and console.

The couple bond even closer
as they realize they are both carriers.
Through love this child began
and through love they will sustain her.

Knowledge replaces fear.
Support gives strength for what lies ahead.
Prayer brings peace.

Thanks to humanitarian researchers,
a protein formula will sustain Alyssa throughout her life
giving her the gift of normal physical and mental health—
It is truly her manna from heaven.

Had she been born in a different time or a different place
This blessing would not be there for her.
A simple test has changed her life.

Modern miracles are often taken for granted.
But I will always be thankful for
ten thousand tiny drops of blood.

My dad also had his own feelings to write about. At the time, he wrote a weekly column in the state newspaper titled “Meanderings.” In these columns, he could choose any subject or thought that he wanted to write about. As an artist, he would also have a drawing to go along with the column. It was when Aly was a couple weeks old that my dad wrote this column. I remember this night very clearly. When Aly was 8 days old I was told to stop nursing her, that I needed to pump my breast milk so that we could more easily keep track of the amount of breast milk that she drank, along with her new formula. (Nursing a baby with PKU has evolved through the years as the experience was different with each of my babies) I had been pumping my milk for about 2 weeks when I developed mastitis. In retrospect, I realize how stressful all of this was. It was then that I decided to quit giving her breast milk and continue with the metabolic formula mixed with the prescribed amount of regular formula. This was my first night without nursing or pumping. I spent it at my mom and dad’s house, not sure why, but I did. It was a tough night, but a sweet night, a great moment for grandpa to bond with his new little Alyssa.

Here is his column:

Alyssa’s Gold — a 1-in-10,000 Treasure

By Dennis Smith

“And he . . . Gave the loaves to his disciples, and the disciples to the multitude. And they did all eat, and were filled.” –Matthew 14:19-20

Monday, Oct. 16, 1 a.m.: I had just finished watching Ted Koppel on “Nightline” and gone to bed. But while brushing my teeth, I heard a little bell dinging on the microwave out in the kitchen.

That would be Rachel getting up to warm a bottle for the baby. She had driven down in the evening and had decided to stay over. Earlier, I poked my head into the living room and saw that she had settled on the couch. I could also hear Alyssa breathing in the corner in the foldaway crib that Veloy bought last year for the grandkids.

It had been a tough go for Tim and Rachel this past few weeks. A few days after Alyssa was born, they learned that her PKU test had come back high and that she needed to be checked again. This is the test where they prick babies’ heels for blood before they come home from the hospital. Every mother is familiar with the test because it pains them so much to see their baby’s foot poked.

Alyssa’s second test showed that her phenylalanine levels had tripled, confirming that she was the one of every 10,000 to 15,000 babies born who are diagnosed with PKU. So far, she is only the second PKU baby born this year in the state of Utah.

We were pretty somber the morning we went with Tim and Rachel to the state medical examiner’s offices to be briefed about Alyssa’s condition. A whole contingent of experts was there to meet us, including the state specialist responsible for PKU babies, a microbiologist and a nutritionist, as well as Tim and Rachel’s regular pediatrician.

In a nutshell, we learned that PKU (short for phenylketonuria) is a condition where the body is not able to properly break down the amino acid phenylalanine, which is present in all foods containing protein. Over time, it rises to dangerous levels. Unless it can be lowered, the high buildup can be particularly damaging to the protective sheathing around the cells in the brain. In the past, PKU typically resulted in serious developmental delays. However, in the early 1930’s, a Norwegian biochemist and physician, Dr. Asbjørn Følling, discovered the cause of the disease after a mother of two severely delayed children came to him. He uncovered the biochemical basis for PKU and learned how to monitor it.

It has only been in recent years (since the early1960’s), though, that a reliable blood test to diagnose PKU has been available. During these past weeks, we keep thinking of the 10,000 mothers who are willing to have their baby’s heels pricked in order to find the one baby like Alyssa who comes along. What seems a small sacrifice for them looms large in our family lately, leaving us grateful to more people than we can ever repay.

If caught early, it is possible for PKU children to live completely normal lives. A protein formula has been developed that has the phenylalanine removed while still providing the other amino acids necessary for proper growth.

There will be some inconveniences for Alyssa throughout her life. She won’t be able to eat hamburgers at McDonald’s and will have to weigh each french fry. They say, too, that her life-saving formula will be quite boring at times. But at least it is available.

In fact, that’s what was warming just now in the microwave.

Looking into the kitchen, I see that Rachel has Alyssa on one arm and is testing her bottle with the other. I ask her if I can feed the baby so she can get some rest. She concedes.

I hold Alyssa in front of me and study her eyes. She turns her head this way and that, then looks me full in the face. I pull her in close and put my nose against her neck. Babies smell so nice when they aren’t smelling stinky. For the moment, Alyssa is being nice.

I settle in Veloy’s rocking chair in the family room with a bottle and burp cloth. Out through the window the world is asleep except for a dim rim of fluorescence over the trees where Micron’s night shift is in full gear.

I hear Alyssa sucking away at her bottle and I look down into her face again. Now she is squirming and pushing the nipple away, so I sit the bottle on the edge of the couch, wipe the white liquid from the edges of her moth, and lift her to my shoulder for a burp.

As I pat her back and listen to her squeak, I study the half empty bottle on the couch.

Alyssa’s gold.

Somewhere out there, someone knows how to make this stuff. Someone else knows how to package and preserve it. Someone ships it, and up in the pharmacy at Primary children’s Medical Center, someone stores it. There is also someone to teach us how to use it. And then, there are all those mothers who let their baby’s heels be pricked. All for the one in 10,000.

The Bible speaks of 5,000 and the miracle of the loaves and the fishes.

But here, at 1 a.m., in the dim light case from a single bulb above the kitchen sink, a modern miracle spills over unexpectedly into my life, a miracle fashioned from the vision and labors of hundreds of people I will never know but for whom I will always be grateful.

We have been extremely lucky to have our formula covered at 80%. The formula my children were on for many years was not too extremely expensive with insurance, but as they have grown, and especially as my married daughter is now dealing with Maternal PKU, the formula options are much more expensive, even paying 20% costs a few hundred dollars a month, per individual. Although we have been lucky to have formula covered at 80%, our low protein foods are not covered at all. This is an extremely difficult thing to deal with as it makes it so hard to keep my kids from being hungry. It is a terrible feeling as a mother to not be able to help my children feel full and nutritionally satisfied.

All 3 of my children have PKU: Aly, Sam, Anna, Aly and Sam are adults, Anna is 13



Other Utah residents who rely on medical foods

The Medical Nutrition Equity Act will provide key support for those Americans who rely on medical foods to survive and thrive.