I recently came across a research paper written in 2011 by Kimberly R. Regis RN, MS, CPNP, and titled Childbearing age women with PKU: Assessment of care needs and preferences. As the final project for her Doctor of Nursing Practice at The Ohio State University, Regis used open-ended questions to gather insight on any concerns adult women with PKU may have as far as managing their condition and the impact those concerns may have on family planning decisions. Being a childbearing-aged woman with PKU, I must say that I truly identified with many of the observations documented in her research. This blog post is the first in a three-part series devoted to maternal PKU and the findings outlined in Regis’ research.
For the purpose of this first entry, let me simply set the stage. Regis conducted telephone interviews with six different adult women who were PKU patients at Nationwide Children’s Hospital Regional Genetics Center in Columbus, Ohio. Though a small sample size, the participants were Caucasian, between the ages of 19 and 35, and had varying levels of protein intake. All but one of the participants was on formula and the most recent set of phe levels for the group ranged between 2.6 mg/dl and 19.9 mg/dl. Most shockingly though was that even with a combined total of 12 pregnancies among the six participants, only four resulted in live births.
Clearly, even with a small sample, this ratio is unacceptable…and, if one dares to make the leap, these figures could represent an issue much larger than just dietary adherence. This is the crutch of Regis’ research as she dug deeper under the complex layers of the genetic disorder and asked what exactly are the factors impeding these women from reaching dietary compliance. To help identify these factors, Regis asked participants the following six questions:
- How does PKU influence daily life?
- What strategies are used for dietary management?
- What support systems do participants have that either help or hinder adherence to dietary management?
- What is the knowledge level of the participants regarding PKU and maternal PKU?
- How does knowledge level regarding PKU impact decisions regarding birth-control and family planning?
- From the participants’ perspectives, what can be done to improve support for ongoing dietary management within the clinic service?
Those readers familiar with my blog know that maternal PKU is the primary reason for why I created PKU Parlor. As I contemplate a return to diet and eventual pregnancy, I am deeply concerned about the odds I’m facing and cannot help but empathize with the PKU women who are profiled in Regis’ study. I ask myself, “will I face miscarriage after miscarriage, or will I have a baby born with severe mental disabilities or congenital heart failure?” Just maybe I’ll be one of the fortunate ones who successfully return to diet and have a normal, healthy baby. With all of this in mind, I’ll spend the next two posts in this series taking a closer look at the knowledge and support factors outlined in questions three through six listed above. I hope you will check back for more of this series and please comment in the field below to join-in on the conversation.