Tag Archives: PKU and Pregnancy

Caring for Maternal PKU: Part I

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.

Nationwide Children’s Hospital Regional Genetics Center in Columbus, Ohio, PKU, PhenylketonuriaFor 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:

  1. How does PKU influence daily life?
  2. What strategies are used for dietary management?
  3. What support systems do participants have that either help or hinder adherence to dietary management?
  4. What is the knowledge level of the participants regarding PKU and maternal PKU?
  5. How does knowledge level regarding PKU impact decisions regarding birth-control and family planning?
  6. 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.


Caring for Maternal PKU: Part II

Caring for Maternal PKU: Part III



Filed under Lo-pro Diet Management, Maternal PKU, Research

Maternal PKU and Sapropterin

This past February, the National Institutes of Health (NIH) hosted a scientific review conference on Phenylketonuria to discuss the “state of the science and future research needs.” The event was free and open to the public, but even if you could not cover the cost of travel and accommodations, the two-day event was also broadcasted live via webcast. I managed to log-on during my lunch break and listened intently to a session on PKU and Pregnancy. To my surprise, much of the PKU and Pregnancy presentation focused on Sapropterin and its use during maternal PKU (Sapropterin is the generic name for Kuvan, the first prescription drug approved by the U.S. Food and Drug Administration to lower blood phe levels in PKU patients).

To be clear, Kuvan is not recommended for maternal PKU unless the benefits outweigh the risks. That is because when ranked on the FDA’s pregnancy classification of drugs, Sapropterin is considered a category C drug since it is still unclear whether Sapropterin crosses the human placenta.

Research presented at the NIH conference confirmed that in some rare instances, Sapropterin had been prescribed to pregnant PKU patients, but only when the woman could not achieve dietary control at the start of her pregnancy. As early as 2005, Sapropterin was the focus of a study led by medical pioneer and PKU advocate Dr. Richard Koch. The patient was responsive to Sapropterin and during her pregnancy, she continued the medication at 40, 60, and 100 mg per day in the first, second, and third trimesters. Used in combination with low-protein food, optimal phe levels were achieved without any nausea and vomiting. More importantly, the woman’s child was born normal. Four years later, another study conducted by one of the presenters, Dr. Gabriella Pridjian from Tulane Hayward Genetics Center, reported on another pregnant PKU patient who had difficulty tolerating low-phe protein supplements. She was instructed to divide the Sapropterin up twice daily and ultimately had a healthy baby delivered through c-section. Pridjian noted that there were plans to eventually formally test the baby (who was now three years old) for any intellectual or developmental issues.

In addition to these two case studies, the NIH panel reported that other pregnancies involving the use of Sapropterin were currently underway. In addition to concerns about whether Sapropterin harms a developing fetus, doctors admitted it was hard to determine if symptoms such as headache, rhinorrhea, vomiting, fever, abdominal pain, rashes or nasal congestion were a result of the prescription drug or simply associated with the pregnancy.

Even though the maker of Kuvan, BioMarin, does in fact encourage pregnant women who were exposed to Kuvan during their pregnancy to participate in ongoing studies about the drug’s effect, there are no plans for future controlled studies. Based on what little has been conducted, including the two case studies I’ve mentioned here, initial reports of using Sapropterin during pregnancy are encouraging. However, continued research on this matter is definitely a must, especially with concern to the long-term implications the drug might have on a PKU woman’s child.



Filed under Conferences & Events, Kuvan, Maternal PKU, Research