Diagnosed with PKU at birth, Olivia Cummings has relied on her dietitian team to keep her in good health.
By Maureen Gilmer, IU Health senior writer, mgilmer1@iuhealth.org
Dr. Olivia Cummings is a 26-year-old neurology resident with the IU School of Medicine. She is currently on rotation at IU Health Methodist Hospital, but she grew up at Riley Hospital for Children, where she and her family received treatment and support for a rare disease called PKU. In fact, Dr. Cummings continues to see her healthcare team at Riley.
Phenylketonuria (PKU) causes an amino acid called phenylalanine to build up in the body. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening. Nutrition-focused treatment is started promptly.
In recognition of Rare Disease Day (Feb. 28), we invited Dr. Cummings to share what it’s like to live with a disorder that would have life-altering consequences if she did not follow a strict low-protein diet.
Question: What are your earliest memories of Riley and living with a rare disease?
Dr. Cummings: My earliest memory is probably the dietitian who used to see me. Her name was Dolly, which I just loved as a 5-year-old girl. She would always give me lots of stickers and samples of low-protein foods that were new on the market. In school, when you were the only person who brought their lunch and the food looked weird and people were asking questions and wondering why you were drinking what they called baby formula, certainly it didn’t feel good. The older I got, the more comfortable I got explaining myself. By the time I got to high school, I had a group of friends who also started bringing their lunches and thought it was fun to try new foods. So, it does get better.
Why are you on a low-protein diet, and why is nutrition so important?
PKU affects amino acids and can interfere with cognitive development and mobility unless there is proper intervention and nutrition. Protein is made up of 20 different amino acids, one of which is phenylalanine, which my body cannot break down. It is toxic to the brain. So, avoiding protein is absolutely necessary, but at the same time, everybody needs protein to grow and survive. The way I get around that is by drinking specialized formula, which contains all the other amino acids. For example, instead of eating an egg with all 20 amino acids, I have to drink formula (32 ounces a day) where I get the 19 amino acids that my body is able to process. The rest of my diet consists of mostly fruits and vegetables and low-protein foods. The majority of my food that doesn’t come from the produce aisle comes from a freezer box somewhere in New Hampshire.
If you did not follow a strict diet, what would be the ramifications?
I don’t think we would be able to hold a conversation right now. I’m not sure I would have the dexterity to walk or would even still be alive. Some people with PKU way back when would have debilitating seizure disorders that would kill them in childhood. If you survived to adulthood, you would usually have cognitive impairment, intellectual disability, and mobility issues.
PKU is one of the best examples I can think of in terms of medical advancement really changing the outcome of a person’s life. If I had been born 60 to 70 years ago in the same town at the same hospital, I would not have the life I have today. And that is all due to newborn screenings and the diligent work of the dietitians and the genetics team at Riley. There is no stronger impact that I’ve seen in medicine as a medical student and as a resident than the one I’ve been dealt myself.
How does your Riley team support you today?
Dr. Bryan Hainline (Riley Medical & Molecular Genetics) diagnosed me when I was born, and he's still my doctor. The dietitians at Riley are an amazing, incredible group. As I’ve been transitioning into residency, I’ve been going to Riley more often to get more support. They’ve given me lots of ideas and suggestions for how to cope with the long hours and not being able to get in a good meal. This last year, in particular, has been more difficult because of the formula shortage, so I’ve been relying on the dietitians a lot to help me get formula. It’s a prescription formula – you can’t buy it at the store. Without my formula, I would not be able to function.
What message do you want to share, either about PKU or rare conditions?
I think we – the medical community and the general population – tend to overlook rare diseases. We forget that people with rare diseases have a lot of specific challenges related to not having funding or attention from insurance companies and drug companies to not only develop drugs that help treat conditions but also to get health insurance coverage. My formula costs $40,000 a year (currently covered by insurance at 80%), and the only treatment on the market for PKU that I might benefit from is $250,000 a year and requires daily injections. The other treatment I tried and did not respond to, so I’m fully focused on diet. PKU is just one disease that can really affect people’s lives, but there are thousands of other rare diseases that are absolutely devastating, and we just don’t have the general awareness to be able to help people the way they need to be helped.
Outside of work, Dr. Cummings, who recently bought a house with her fiancé (also a medical resident), enjoys home-improvement projects, gardening, and reading historical fiction.
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