PKU May Be Part of My Journey, but It Will Not Be the End of My Story

I can still remember the day we received that horrific phone call like it was yesterday…Newborn screening tests only started at the specific hospital the year Milandré was born, and they were not compulsory. I thank God every day that I gave permission for that test, even though at the time I had no idea what it was and just wanted the nurses to leave me alone.

Milandré was only about a week old, and we were on our way back to our hometown after spending a few days with my parents following her birth. A nurse called, telling us we needed to do more tests as they had picked up something in the Newborn Screening test they did on Milandré. The nurse couldn’t give me more information, as no one—not even our pediatrician—knew what was wrong. We were sent to our hometown doctor to draw blood for more tests. This was a nightmare on its own, as no one could get blood. We eventually drove to the nearest town with a Pathcare and got the tests done.

A week later, we were called and told to go to our pediatrician so that Milandré could be admitted, as the results were back. When we got to the hospital, the doctor wanted to admit her and put her on a drip, as I had to stop breastfeeding immediately. The results were in, and Milandré was diagnosed with Phenylketonuria (PKU). The pediatrician had no idea what PKU was or how to handle it. We refused to admit her, as no one could tell us why, how to manage PKU, or what exactly it was.

Long story short… the Pliem Lab in Potchefstroom, where the diagnosis was made, put us in contact with a dietician from Pretoria, Dr. Tuschka Boshoff. She not only had experience with PKU but also had other PKU patients and was truly an angel sent from above. The first thing she said to me was, “Your child is going to be fine,” and I just burst into tears. For the first time after the diagnosis, I began to feel like maybe I could handle this and maybe my daughter would be okay. She also became a lifelong friend, and without her we would be totally lost. My child would not be living a normal, happy, healthy life without her.

First, she tried to get us on the right formula. At the time, there was no formula available in South Africa for Milandré’s age. Tuschka got us an older-age formula and worked out how much we could give her while we waited for the correct formula to be imported. Milandré went from waking maybe once a night to breastfeed, to sleeping only about an hour at a time—constantly hungry and cramping as she adjusted to the new formula. The formula also cost thousands of rands, and I simply could not afford it. Regular blood tests were done to get her phe levels down as fast as possible. Ideal phe levels for Milandré are under 400, and when she was diagnosed, her levels were 1,300—high enough to cause brain damage. But thanks to Tuschka, we got it down very quickly.

When we moved to solid foods, Tuschka also assisted with her diet and still does so today after every blood test. A test was also sent to Switzerland to confirm PKU. I prayed so hard that it would come back saying it was a mistake, but the Lord had other plans for us, and it confirmed Classic PKU.

Tuschka also connected me with another mommy from South Africa who had an older child with PKU. She helped me understand everything, and now we even have a WhatsApp group with about four mommies sharing stories and products we find. It always feels like Christmas when we discover something safe and low-protein that our kids can enjoy. These mommies, and Tuschka especially, helped me through a very difficult time—understanding PKU, managing the diet, handling life changes, regular blood tests, getting formula approved by medical aid… and the list goes on as we came to terms with our new way of life. So many things can affect phe levels—sickness, stress, hormones, and more.

What does “equity” mean in your story?

Support for PKU in South Africa is really the bare minimum when it comes to “PKU-friendly” products. We don’t get products specifically formulated for PKU patients like overseas. We don’t get home blood test machines. There are no injections available like overseas to lower phe levels so patients can follow a normal diet. Medical aid support is difficult to nonexistent. Medical aids do not cover the full cost of blood tests. Any PKU support available in South Africa is extremely expensive and unaffordable.

Getting products from overseas is also difficult: most companies will not ship to South Africa, and when they do, it is very expensive or products get blocked at ports. In some countries overseas, all medical expenses and PKU products are fully covered by government or medical aids—but not here.

Every year, I have to apply to my medical aid for support to pay for her formula. And every year, for the last 11 years, they decline it at first. Then I must reapply, and only then will they cover it. This takes months and is never guaranteed.

Day-to-day life

Day-to-day life for Milandré and myself has its ups and downs. Being a single mommy is hard—the stress, the financial burden, and having to manage everything alone takes a toll. But we are carried every day by God’s grace. We are blessed, and Milandré is doing so well.

She has been disciplined from a young age and accepts that she can’t always eat what her friends eat. When a friend gives her something, she will politely decline or bring it home to ask if she may have it.

Unfortunately, she was bullied at her previous school. Kids made fun of her different food, her dairy-free cheese, and the formula that smelled strange. It got so bad that she stopped eating during break times. Events always served hotdogs or hamburgers—nothing vegetarian—and she had to take her own food. Eventually, she became too shy to bring anything and would go the whole day without eating.

Hope and strength

In the middle of last year, Milandré changed schools. Her new school is wonderful, with teachers who do not tolerate bullying. The kids are kind and supportive. On Heritage Day, they had a school braai. She took her veggie sosaties and mushroom steak like we normally do. At first, she was too shy to braai her food, but a teacher helped her, and everyone admired her meal—even the kids wanted to try it. She was so happy that afternoon, smiling as she told me no one made fun of her food and everyone said it looked delicious.

Some mommies even cater for her at birthday parties and ask in advance how they can include her. The school always makes sure she feels included. It gives me hope to see that she can thrive in a normal environment without feeling like she doesn’t belong. I wish all schools, teachers, families, children, and public places could be this caring and understanding. We all just want to belong and feel supported.

What would you like others to understand about rare diseases?

PKU has never stopped or held Milandré back. She tries everything and participates in everything—dance classes, netball, tennis, swimming, athletics, even horse riding. She loves school and takes part in Eisteddfod and choir. She is a bright, happy child with the most caring heart and a deep love for Jesus. She loves the farm, loves animals, and wants to become a vet one day. She enjoys helping her Oupa on the farm and learning to bake from her Ouma. She loves helping people and animals, and she enjoys making letters and gifts for teachers, friends, and family to brighten their day.

She is a true inspiration and has lifted me up more times over the years than I have lifted her. One in 15,000 children have PKU—and yes, Milandré really is that rare and special. She is living proof that PKU is a path—some days very difficult—but not the end of her story. She amazes me every day, and I’m so blessed to be her mommy and walk this path with her. I am so proud of the young woman she is becoming.