Tag Archives: PKU research

Is taking-on maternal PKU a rational decision?

Some blog followers may have noticed that I have taken a short hiatus from posting content. My absence has in large part been attributed to the fact that I spent the latter part of January, all of February and the beginning of March battling for access to my prescribed PKU formula. Despite having insurance coverage, the durable medical equipment company I had worked with for over a year decided they were losing too much money, cited it as a “reimbursement issue,” and claimed that it was perfectly legal to deny me access to the formula. I spent the next days and weeks attempting to liaison between my employer, my health insurance provider, the formula manufacturer and alternate DME companies. I embarked on an extensive letter-writing campaign and spent many weeks living day-to-day, wondering where my next supply of formula would come from, whether I needed to leave work early to pick up an emergency supply from my local clinic, and so forth.

I go into all of this to belabor my next point, something that has been weighing heavily on my mind: Will I ever feel confident enough to take the next step and transition my “return to diet” into a “preconception diet?” After being off diet for nearly 19 years, I recently returned to the low-protein diet and have been working hard to adhere to its limitations for nearly three months now. For some clinics, that is long enough before women with PKU can conceive. Other clinics recommend six months, but whether the recommendation is three months, six months or an entire year, I do not know that the uncertainty surrounding treatment for maternal PKU will ever improve.

Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013Two recent, yet very different, pieces of literature caught my attention and magnified this dilemma further. The first, which was passed along to me by another PKU advocate Kevin Alexander, is a peer-reviewed, academic journal called Genetics in Medicine. Published by the American College of Medical Genetics and Genomics, the March 2013 issue reviewed the 50th anniversary of the U.S. newborn screening program and looked at the barriers that still prevent access to PKU treatment five decades later. Many barriers were examined including the limited number of adult clinics; the lack of third-party payer coverage; transportation-related issues; and perhaps one of the most commonly ignored barriers, social and mental health support.

Factors identified as affecting access to treatment for phenylketonuria. Source: Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013.

Factors identified as affecting access to treatment for phenylketonuria. Source: Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013, doi:10.1038/gim.2013.10.

The second piece of literature – a blog post by National Public Radio titled “Is having a child a rational decision” – is obviously a much less formal form of literature; however, from a philosophical perspective it examines the reasons why people decide to start a family. The post goes on to say, “Most people don’t decide to start a family after logical and ethical debate; they’re moved (says Belkin): To create a family. To craft a whole greater than yourself, of which you will eternally be a part. To take part in a life from its start to your own finish.”

I guarantee that I am not the only woman with PKU who does feel so moved, to have a part in creating a whole greater than oneself. Unfortunately, women with PKU do not fall within the category of “most people.” The very personal decision of whether or not a woman with PKU will attempt a pregnancy does in fact involve logic and debate. I have experienced many debates…sometimes with friends and family and other times with my self-consciousness. Is a PKU pregnancy is a wise decision, especially given all the unknowns that are seemingly beyond my control?

As a good PKU friend of mine in New York once told me, there are no happy accidents when it comes to maternal PKU. The demands that maternal PKU places on a woman are great indeed. The decision is big. The hurdles along the way will at times seem insurmountable.

Given the current state of the healthcare system and all the barriers that still exist, one almost has to be irrational to finally take the plunge.




Filed under Maternal PKU, Research

National PKU Awareness Day: My Wish List for the Future of PKU

National PKU Awareness Day, December 3, Phenylketonuria, National PKU Alliance

We have all heard about specific days, weeks and even months that are set aside in recognition of something special. Today – December 3, 2012 – is the first-ever National PKU Awareness Day. What does that mean for the PKU community?

Here are a couple things to know first about these special time periods of distinction. In the marketing realm, there’s a difference between national days and national awareness days. National days are typically reserved for organizations lobbying for commercial interests such as National Mutt Day on Dec. 2 which reminds potential dog owners to adopt mixed-breed pets. National awareness days, on the other hand, are used to identify health-related issues; some of the more well-known health awareness campaigns being in support of breast cancer and heart disease.

As a rare genetic disorder with no cure, PKU certainly falls within the national-awareness-day category. Receiving a national awareness day distinction for PKU required the support of the U.S. Senate, which unanimously passed the resolution on Sept. 19, 2012. Senators Johnny Isakson (R-Ga.) and John Kerry (D-Mass.) co-sponsored the resolution, and the National PKU Alliance, a coalition of local, state and regional organizations supporting PKU families, undoubtedly played an integral role assisting the two senators as they sought buy-in from their senatorial colleagues.

Receiving national recognition for PKU is rather moving and amidst all the excitement, I couldn’t help but daydream just what this elevated, national platform could mean for PKU. Call this a PKU National Awareness Day Wish List if you like, but here are just a few things I hope will change over the coming years with more attention brought to this issue:

  • More scientists will know of and perhaps be inspired to study phenylketonuria.
  • More funding may be allocated for academic research in support of PKU.
  • Policy decision makers in Washington D.C. will better understand the importance of mandatory newborn screening and may eventually pass the Medical Foods Equity Act.
  • Insurance coverage will increase at both the national and state levels.
  • Any confusion that the PKU “diet” is cosmetic and applies to weight-loss will be eliminated.
  • PKU clinics across the nation will improve thanks to shared best practices and individualized patient care.
  • We may someday gain a better understanding for the differing degrees of severity found in PKU.
  • The list of pharmaceutical drug therapies that are available for the treatment of PKU may increase.
  • We could also see a greater variety of low-protein foods made available to patients…maybe some even available in common grocery stores.
  • PKU patients and their families will experience a greater sense of community.
  • We may improve upon the resources made available to women facing maternal PKU…and ultimately increase the number of successful pregnancies.
  • PKU will have a greater, national identity; one that “adds a face” to what is otherwise an obscure genetic disorder.

I do not think it’s at a stretch to assume that through all of these “blue-sky” goals, National PKU Awareness Day could one day lead to a cure. With that in mind, what other items would you add to this wish list?



Filed under Conferences & Events

Placebo study could impact PKU clinical drug trials

Findings from a study published in the Oct. 23 edition of PLOS ONE, a peer-reviewed online scientific journal, suggests that people with a gene variation that leads to higher dopamine levels in the brain respond better to placebos than those individuals with low dopamine levels.

The science, health and technology news website LiveScience reported on the study and described how researchers tested to see whether a person’s genes can control a placebo response:

PKU, Phenylketonuria, Gene Mutation, Gene Variance, PKU Clinical Trials, Placebo

“To find out, Hall and her colleagues analyzed DNA from 104 patients with irritable bowel syndrome who were randomized to one of three groups: One was told they were on the waiting list for treatment, another received a placebo in the form of seemingly real, curt acupuncture, and the third group received fake acupuncture from a caring, warm practitioner who looked patients in the eye, asked about their progress, and even touched them lightly, Hall told LiveScience.

Patients with the high-dopamine version of the gene felt slightly better after seeing the curt, all-business health-care provider that gave placebo acupuncture. But they were six times as likely to say their symptoms improved with a caring practitioner as those with the low-dopamine gene, who didn’t improve much in any group.

The findings suggest that medical studies called clinical trials could identify treatment versus placebo effect by grouping patients by gene variant, Hall said. Knowing up front the level of placebo effect for a clinical trial could reduce the cost of the trial significantly by using fewer participants, for instance, she said.”

How does this relate to PKU?

PKU patients have very little or no phenylalanine hydroxylase (PAH), an enzyme in the body that converts phenylalanine into tyrosine. Tyrosine is used by the brain to synthesize dopamine, an important neurotransmitter involved in motor functions and mood. This means that PKU patients, especially those “off-diet” or those not regularly consuming formula, will experience relatively low levels of dopamine. This is the reason that some of the side effects experienced by PKU patients on an uncontrolled diet can include anxiety, depression and other mood disorders.

No doubt, it will be interesting to see whether these new findings will have any impact on how BioMarin or other pharmaceutical companies will structure future PKU clinical trials. Researchers will have to consider whether having a mixture of on-diet and off-diet PKU patients randomly assigned to control and experimental groups will have any bearing on the trial’s accuracy. Or perhaps a closer look at the specific gene mutation that allows some individuals to operate with higher dopamine levels will someday provide answers for how to increase dopamine in those of us who could benefit from a little more.


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Caring for Maternal PKU: Part III

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?

Maternal PKU, Pregnancy and PKU, PKU, PhenylketonuriaFor 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.


Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part II


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

Caring for Maternal PKU: Part II

Maternal PKU, Phenylketonuria, Maternal PKU Knowledge Test

For the second installment in the Caring for Maternal PKU series, let’s take a closer look at the knowledge factors incorporated into the participant interviewee questions for Kimberly R. Regis’ Doctor of Nursing Practice final project, Childbearing age women with PKU: Assessment of care needs and preferences. In Part I of the series, questions four and five asked:

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?

Why would Regis focus on the knowledge level of the adult women with PKU? For the last two decades, PKU research has focused in large part on emphasizing the need to educate adult women with PKU so they could better self-manage their condition and prevent the occurrence of maternal PKU syndrome. Regis wanted to “gain a better understanding of the ways in which a children’s hospital-based metabolic specialty clinic may best serve them [adult PKU women of childbearing age].” Was the answer that clinics should continue to serve maternal PKU patients by following conventional research, which emphasized the importance of ongoing education? Or was there a need for something more?

To explore these options, Regis started with the knowledge variable and had the six participants take the Maternal PKU Knowledge Test, a 10-question quiz that was developed in 1990 by Shiloh, St. James and Waisbren. The three authors recommended the test as a way for clinics to screen and identify adult women with PKU who might benefit from more education.

The study’s participants answered a majority of the questions correctly, with scores ranging from seven to 10 correct. The question that elicited the most trouble when trying to answer was number seven (you can see a complete list of questions and take the test for yourself by visiting the Maternal PKU Knowledge Test page on PKU Parlor). A common theme that emerged from the open-ended questions was that participants felt they received vague and oversimplified information, which lacked details for explaining the science behind why a developing fetus could be harmed by poor dietary control. One participant stated she had never been taught about maternal PKU saying, “I don’t even remember having the conversation.”

With regard to how the participants’ knowledge level may have impacted their family planning decisions, all of the participants reported that PKU strongly influenced their decision about whether or not to have children. Regis noted that one participant commented that she was afraid to have children because of the possible outcomes, while another participant who originally wanted a large family said that concerns over the PKU diet changed the number of children they would ultimately plan for.

“I never thought growing up that I could never had kids. I always had the big family in my head—five kids, four kids.”

Observations within the study also revealed that even though there were 12 pregnancies among the six participants, only four resulted in live births. So one begs to ask the question: If these six women were relatively well-informed about the risks associated with maternal PKU…AND if knowledge of those risks, as well as ways to minimize those risks, impacted the decisions these women made with regard to family planning, then what else could be the reason behind such a low pregnancy success rate?

Stay tuned for the concluding post in this three-part series on Caring for Maternal PKU. Assuming that education alone may not be enough to improve pregnancy success rates among adult PKU women, Part III will take a look at the support systems available to the participants in Regis’ study.


Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part III


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

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

A Month of Distinction: May is PKU Awareness Month

Each October, the Susan G. Komen Foundation conducts a media and fundraising blitz in an effort to raise overall awareness for breast cancer and to help fund ongoing research. The same can be said for the American Heart Association and its trademark American Heart Month which takes place every February. While both of these conditions impact far more individuals than a rare genetic disorder, PKU also has its own month of distinction—May.National PKU Awareness Month, Phenylketonuria, May, PKU Awareness Logo

As is the case with most health-related awareness campaigns, National PKU Awareness Month seeks to raise the condition’s profile by keeping it front-and-center in the minds and hearts of everyone. It becomes a time to examine critical issues such as the challenges we face in obtaining insurance coverage or the importance of supporting mandatory newborn screening. Media entities, with their interest in spotlighting human interest narratives, oftentimes serve a catalyst for educating the public, swaying public opinion and, in some cases, influencing policy-makers. Supporting National PKU Awareness Month is important for all these reasons, but perhaps nothing is more inspirational than knowing that all fundraising dollars collected in recognition of this effort will help to fund ongoing scientific research…research that might one day provide the clues for how to cure PKU.

I recently had the pleasure of participating in the Tennessee PKU Foundation’s 2012 Knoxville Walk for PKU. The event was hosted at the Knoxville Zoo and walk participants were asked to raise money for ongoing PKU research and support activities. With more than 165 people in attendance, the event raked-in an estimated $1,400–an amount that adds-on to the $46,000 the foundation has already contributed to PKU research since 2007.

2012 Knoxville Walk for PKU

I’m pictured far left with other PKU patients and family members just moments before the 2012 Knoxville Walk for PKU kicked off at the Knoxville Zoo.

Other similar events are either planned for or have already occurred in other regions across the state. In fact, both Memphis and Nashville have organized their own Walks for PKU. Imagine for a moment this same effort multiplied throughout the U.S. and even across the border into other nations. That is the impact National PKU Awareness Month has on this genetic disorder!

With Memorial Day Weekend right around the corner, May has almost passed us by. However, the good news is the effort to promote PKU awareness does not have to stop at the end of the month. That is because just purely through our association with PKU, whether we are PKU patients or know someone with PKU, we all have the opportunity to serve as ambassadors for the cause. So tell me, did you recently help commemorate National PKU Awareness Month? If so, what sort of activities or actions in your community did you take part in?  Please comment below and share your creative ideas. Perhaps we can learn from one another in terms of which efforts work best at garnering the most attention for PKU.


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Filed under Conferences & Events, Research