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Propionic Acidemia, Age 18 Months

Nolan was born in September 2021 after a healthy, low risk, and uneventful pregnancy. Initially all appeared well, although hindsight is 20/20, right? Nolan is my third child and did not have as strong of a suck when nursing as my other two. He also struggled to maintain his temperature while we were in the hospital after birth. Nothing wild, just low enough that the nurses never gave him a bath for fear that it would drop lower. Our daughter had one episode of low temps in the hospital as well, so I was not very concerned. We were discharged at 36 hours, and went home. Looking back, Nolan barely opened his eyes the entire day we were home, and that first night home he didn’t nurse a single time, and even when I pumped he refused a bottle. By the morning of his second day of life he was 96.6* rectally and I called our pediatrician. I should have just taken him straight to the children’s hospital, but we met with the pediatrician, who ultimately told us what I had been refusing to admit—our new baby needed to go to the ER.

So as soon as I got home and we could coordinate child care for our older children, my husband and I drove Nolan to Children’s Hospital of Philadelphia where he was immediately triaged, put on IV fluids, antibiotics, a warmer, and got blood cultures and lots of labs. Our perfect little baby was very sick, he was severely acidotic, and his ammonia continued to climb from the 400’s to a peak of 900 before they started dialysis to bring it down. Nolan was admitted to the PICU at CHOP. There, we met our metabolic team for the first time and were given the diagnosis of Propionic Acidemia. They were able to stabilize his acidosis fairly quickly, however on day 5 we nearly lost him to septic shock. We are forever grateful to the PICU and our metabolic team for saving our baby’s life. 

Nolan spent the first two weeks of his life in the PICU, and then 3 more weeks in the hospital on the metabolic floor. Nolan had a lot of trouble gaining weight, and was readmitted a few weeks later with a severe rash that was determined to be “acrodermatitis dysmetabolica,” a bunch of big and fancy words for a rash caused by amino acid deficiencies. It turned out that both the rash and the poor weight gain were a result of him being too protein restricted. After this, his nutritionist increased the amount of protein and calories in his diet, and his weight began to increase. Even still, we notice he gets very rashy anytime he has low dietary protein intake from illness, vomiting, or pancreatitis. 

After his initial crisis Nolan was fairly stable through 6 months, however that is when he began with frequent hospitalizations. Over the spring, fall, and winter of 2022 he was hospitalized 25 times, and was never home for more than 2-3 weeks at the longest. He has had just about every virus under the sun during that time: RSV, parainfluenza, norovirus, Covid, and rhinoenterovirus, along with multiple un-identified respiratory viruses; a septic hip joint from a bacterial infection; and three bouts of pancreatitis. It has been incredibly exhausting. Additionally, since the fall of 2022 we have been struggling with gastroparesis and frequent vomiting, even when he is not ill. 

Despite his many setbacks, Nolan is a happy, bright, and sweet child. He is easygoing, quick to smile and laugh, and loves his siblings and family very much. He works very hard in PT, OT, and speech therapy, and is quite motivated to reach his milestones to be able to keep up with his siblings. One of Nolan’s favorite hobbies is watching the cars go by on the busy road outside our home. He also loves when his hospital room has a window to the street so he can watch the busy world below. We find this humorous as my husband’s family has been in the car industry for 5 generations. We always like to say that loving cars is in his blood. 

Throughout our journey with Nolan, one of the biggest struggles for me has been using the synthetic metabolic formulas. I breastfed our other children, and pumped for Nolan as he is 100% tube fed. Garden to table eating is deeply woven into the fabric of our family, thanks to the example of my grandparents. Additionally, as a nurse practitioner, I know there is good evidence in the literature demonstrating that food is the foundation of our gut health, metabolic health, and overall wellbeing. As such, our family prioritizes eating whole, real foods, and it has been such a slap in the face that the primary source of fuel for our medically fragile son is “corn syrup solids,” which are GMO, grown and sprayed with horrendous pesticides with long lists of related health concerns. It is so disheartening that the most vulnerable member of our family has such limited options when it comes to this foundational and important piece of his health. 

I am in the midst of advocating on Nolan’s behalf for better ingredients in metabolic formula. I have been reaching out to some formula companies, and actively looking for companies, big and small, who would be interested in improving the ingredients in their metabolic formula. Not only do I hope to see improvements in the quality of ingredients, I’m also hopeful that reformulations will be guided by research, and take into account the many children who struggle with high glycine. 

Through all of this, Nolan’s nutritionist has been amazing and is working with me to create a plan to transition Nolan to a blenderized diet, which is based on whole, real foods. We are hopeful that this will help with his frequent vomiting, and improve his overall quality of life. I am also continuing to advocate for him. I am hopeful that in the next few years we will see more options available to our metabolic children that build and promote health on a foundational level. 

We have been on such a wild and unexpected journey with Nolan. Most recently we have worked with Nolan’s insurance company to get him approved for nursing hours, and I have been hired by a home care company and now work full time as Nolan’s nurse. This has been such a tremendous blessing to our family. We have also loved connecting with other families with metabolic kiddos. We have met so many amazing people on this journey and are so thankful for those who have walked us through the ups and downs of Nolan’s health. 

As we look to the future we are excited to enroll Nolan in the mRNA trial with Moderna, and I’d be lying if I said I didn’t have high hopes for these new therapies. Like many metabolic families, we are excited for the potential benefits for our own child, but also for the ways that this research will impact future generations of metabolic kids. 

I always love to connect with other metabolic families, you can find me on Instagram @holistically.sara

From Winter 2023 Newsletter

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