Trying to Manage My Son’s Rare Disease, and Why Parents Need More Support

Written by: Kala McWain

There is no amount of time that can fully prepare you for the hard work and sacrifices it takes to be a good parent. These challenges can be exponentially harder when you are a parent of a child living with a rare disease. When I first laid eyes on my son Braxton, who is now two years old, I fell in love instantly with what looked like a perfectly healthy baby. Despite appearances, after a few days at the hospital a newborn screening test revealed that Braxton has a rare and devastating metabolic disease called phenylketonuria or PKU as it’s known in the patient community.

People with PKU cannot break down the amino acid phenylalanine (Phe), which is found in many foods including meat, vegetables, breads and cereals. In an infant, normal Phe levels are less than two milligrams per deciliter (mg/dL). Braxton’s levels were about 29 mg/dL. With toxic levels of Phe in his system, Braxton was at risk of severe neurological damage and neurocognitive defects as well as intellectual disabilities, emotional problems and deficits in mental processing and social engagement. While there are some treatment options available, they present limitations for many patients. As a result, most parents must try to keep their loved ones living with PKU on a strict low-protein diet that is extremely challenging to maintain, especially with a picky eater like my son.  This is also why new treatment options are urgently needed.

My husband and I dedicated ourselves to this very challenging task of making sure Braxton ate a strict low-protein diet. When he was an infant, we had to work with metabolic specialists to find the right balance of medical formula and breastmilk to ensure that he was getting minimal amounts of Phe while also getting the essential amino acids and nutrients he needed to develop properly. The recent national formula shortage has been a nightmare for parents like me, and yet another example showing how difficult it can be to maintain this strict diet every day. Many parents, including me and my husband, remain in desperate need of formula for their children with PKU.

As a growing toddler, Braxton’s dietary preferences have also continued to change, which is presenting many new challenges. He has issues with food textures and refuses to eat certain foods such as low-protein pasta. Most of my days are spent worrying about what to feed him, how to make meals balanced and nutritious, and how to make his food look like the food his older brother eats so he does not feel excluded. I have cried at the grocery store stressing about what food I could buy Braxton that was safe and healthy for him to eat. I have noticed the judgmental stares we get when we eat out at restaurants, and I am weighing his french fries. I sometimes worry that in my efforts to ensure his well-being by focusing on one of the only things I can control – his diet – I have instilled in him a bad relationship with food.

Despite these challenges, in many respects Braxton is a typical young boy. He has tons of energy and loves dinosaurs, monster trucks, and every sport he can possibly try. You can give him a bat and a ball, and he will be happily occupied for hours.

I’m currently focused on ensuring Braxton, and the entire PKU community, have access to what they need to live as healthy a life as possible. I’ve learned that families affected by PKU often struggle financially because health insurance plans don’t always cover the cost of formula and low-protein foods that their children need to properly develop. Determined to change that, I began speaking out as an advocate for the Medical Nutrition Equity Act (HR 3783/S 2013), which would require health insurance companies to cover these formulas and foods. This summer, I was able to speak with Wyoming Congresswoman Liz Cheney, Senator John Barrasso and Senator Cynthia Lummis and ask them to become co-sponsors of the bill. While the legislative process is complicated and can be daunting, it was exciting to speak with these government leaders about ways that we can advocate for people with PKU at state and local levels, if not at a federal level. I am looking forward to seeing where this journey as an advocate takes me.

With promising treatments in clinical development, I have also learned that there is hope on the horizon. We must support these research efforts that can bring new treatment options to those patients who desperately need them. I want my Instagram (@kayla_withoutthe_y) to be a place where new parents and caregivers can ask questions, feel supported and get ideas including new meals. It is important to reach out for help and build a community of support with other PKU families. You do not have to do this alone – it will get better!

Author Bio: Kala McWain is a mom of two from Casper, Wyoming. Her youngest son Braxton was diagnosed with phenylketonuria (PKU), a rare metabolic disorder, at four days old. Those with PKU are at risk of severe neurological damage and neurocognitive defects as well as intellectual disabilities, emotional problems and deficits in mental processing and social engagement if they do not follow a strict diet, which begins as soon as one is diagnosed.  In the two years since his diagnosis, Kala has worked tirelessly to build public awareness of the impact that this disease has on the PKU community — patients, caregivers and advocates – who need more support.

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