Welcome to the third and final post in the Caring for Maternal PKU series. In Part I, readers were introduced to the research Kimberly R. Regis RN, MS, CPNP, conducted in support of her Doctorate of Nursing Practice final project at The Ohio State University. The objective of Regis’ research was to “describe the care needs and preferences of adult women of childbearing-age with PKU” by going directly to the women and asking about their experiences. In Part II of the series, we learned that despite being well-informed about the risks associated with maternal PKU, the group of women Regis interviewed had a relatively low combined pregnancy success rate. In an effort to see what factors—in addition to knowledge level—might be at play, Regis explored maternal PKU support systems by asking her participants the following questions:
- What support systems do participants have that either help or hinder adherence to dietary management?
- From the participants’ perspectives, what can be done to improve support for ongoing dietary management within the clinic service?
For all of the women who participated in Regis’ study, family members were identified as being the greatest source of support. Mothers in particular were mentioned not only as a supporter but also as an individual who truly understood and empathized with what it was like to struggle with the low-protein diet. Other examples of how family members provided support included finding new recipes to cook or share with the PKU patient, or even in some cases, helping to pay for costly medical foods.
With regard to the support participants received from clinics, most felt that clinicians were friendly and supportive, but some concerns still existed. For example, some participants felt like information about new foods and treatment was only provided if the patient asked about it. Clinic staff did not always provide individualized advice and overall communication from the clinic occurred less frequently overtime.
“Right now I’m still just in the monthly stages of taking my level every month, and that’s pretty much all that I hear from my nurse. And I never really hear from my dietician other than when I call her to order formula.”
The reality is that most PKU clinics are spread-thin and overworked because of having to respond to more than just PKU patients. But developing specialized care for maternal PKU is significantly more complicated than just refreshing clinical best practices. That’s because as Regis acknowledged, treatment for PKU has evolved over the years, allowing for more PKU patients to live longer and engage in “traditional” lifestyle activities such as pursuing advanced college degrees and starting families. Unfortunately, despite the need for individualized care, many PKU adults are still seeking treatment at a pediatric-focused facility such as Children’s Hospital. To be fair, participants within Regis’ study did not explicitly express concerns about receiving care from a pediatric institution; however, there was strong agreement on the need for more support beyond education.
What would this additional support look like? Regis suggests that social work, mental health and gynecological services may all be applicable for advancing the care of maternal PKU. No matter what the medical treatment of PKU will look like in the years to come, it must evolve to include geneticists, dieticians and nursing practitioners who understand and specialize in maternal PKU. Perhaps Regis herself said it best when she recognized women of childbearing age with PKU as being a “distinct population with the shared risk of having offspring with disabilities as a result of their genetic disorder.”
A distinct population – even one that is a subset of a group defined by a rare genetic disorder – should translate into individual, specialized care.