Home Blood Phe Monitor: A PKU Pregger’s Dream

During the 2014 National PKU Alliance Conference this past summer, an update was given on the development of a home phe monitor, a device that would allow people to check their blood phe levels immediately from home. In this video interview, produced by Kevin Alexander, Dr. Tom Franklin, chair of the National PKU Alliance Scientific Advisory Board, says that after receiving 128 proposals from scientists representing seven different countries, nine were selected in April 2014 for Phase II and were required to submit detailed concepts for the monitor by July 2014.

Unfortunately, a single proposal won’t be selected for moving forward with development of a prototype until December 2015. Even then nothing is guaranteed, but nonetheless, allow me to explain why an at-home phe monitoring device would be my ‘dream come true.’

Many of my readers are aware that I’m pregnant with my first child and as I prepare to hit the 30-week mark this weekend, I’m well beyond the point in my pregnancy when Madison has started to process phe for me. In order to make sure my current phe allotment is still appropriate, I use a lancing device to gather a blood sample every Sunday, allow it to dry overnight and then mail it in Monday morning. Yet, as I write this blog entry, the last phe result I received was on Aug. 19 for a level I took on Aug. 10. For those of you who are counting, that was more than three weeks ago. Neurotic, Type-A-Personality folks like myself can’t help but worry about how much has changed in that time span.

When my blood work leaves my mailbox Monday morning, it’s probably fair to estimate a two-day delivery time with the U.S. Postal Service. So what happens once it reaches its destination to cause it to be delayed so much longer? Well, in my case, the level likely arrives at the hospital warehouse where it is processed for an internal delivery system. In some cases, clinics decide to hold a patient’s level until they have enough in-hand to justify the cost of processing them (most clinics will place a maternal PKU patient on a priority list). And then there’s just plain old human error. Levels are lost, stuck in interdepartmental tube delivery systems and who knows what else!

To be clear, I’m not trying to place blame on any one person or organization. Heck, even I realize that my decision to transfer care to another state also plays a role in this conundrum. The point is there are many reasons why the turnaround for blood phe results moves slower than molasses. No doubt, the ability to use a home phe monitor would vastly improve many lives in the PKU community.

Until that day, I’ll continue to play catch-up with how fast Madison grows and the protein she needs for that development. I’ve decided to overnight delivery of my levels (which, by the way, costs me $20 a pop). I also have started to send them directly to my clinic, bypassing the hospital’s warehouse; ultimately hoping that all of this will help improve the situation.

I’m curious to hear if others in the PKU community have had similar frustrations with the time it takes to get back blood test results. Have you and your clinic come up with other unique ways to improve the process for submitting levels through the mail?

–NM

Do ‘protective mutations’ hold a cure for PKU?

That’s the question I asked after watching a TED Talk from Stephen Friend, co-founder of Sage Bionetworks. During the presentation, Friend describes an ambitious initiative called the Resilience Project: A Search for Unexpected Heroes, which flips traditional scientific research on its head by suggesting that rather than studying those people who are already sick, we should be studying those people science tells us would be sick with a rare disease, but for some reason have remained healthy.

The premise of the talk, titled The hunt for “unexpected genetic heroes,” asks whether having a closer look at the protective mutations of these “resilient” individuals would provide a pathway for developing new treatments or preventing diseases all together. Here’s the full video presentation:

Naturally, upon finishing the video, I immediately thought the Resilience Project might have some relevance to PKU research. That’s because there are a few, rare cases in the PKU community of individuals who are high-functioning, off-diet phenylketonuria patients, meaning that despite having what is medically considered to be dangerously high phenylalanine levels, these folks are still able to function with a high-level of intellect and lead normal, productive lives.

Friend’s TED Talk ends with a call to action—for individuals to become engaged by voluntarily submitting their DNA to the project—but there was little detail on how to go about doing so. After finding the Resilience Project’s website, and scrolling through much of its content, I was pleasantly surprised to learn that phenylketonuria (PAH) is one of the 195 metabolic gene disorders the group is looking to study. Pretty cool, huh?

After becoming disconnected from the PKU community for the 18 years that I was off-diet, I never did understand why I seemed to function just fine. But as I started to delve back into the world of PKU in 2008, I quickly started to hear in various circles about a mutation theory called the blood-brain barrier. Virginia Schuett’s PKU News has a good description for explaining the blood-brain barrier’s role in why some PKU patients are less affected by high-phe levels than others.

“There is the occasional individual with PKU, who despite poor control of the diet and chronic marked elevations of blood phe seems to escape any significant neurological impairment. It is suspected that such individuals may be protected at the level of the “blood-brain barrier.” The blood-brain barrier serves to protect the brain from exposure to potentially toxic chemicals in the bloodstream.”

Although I cannot confirm that the blood-brain barrier mutation is what the folks at the Resilience Project are specifically studying with regard to PKU, I would not be surprised if it was at least on their radar.

The Resilience Project defines an “unexpected hero” as someone who “has reached the age of 40–by which time a genetic disease known to emerge in childhood should have manifested–but who does not bear the symptoms of disease.” I’m not yet 40, but I’m seriously considering trying to participate in the project nonetheless.

What are your thoughts on the matter? Would you willingly participate given the chance of new treatments or even a cure for PKU? Or does the thought of submitting your DNA have your internal privacy alarms sounding off? Either way, I’d be interested in hearing your thoughts. And if anyone from the PKU medical community is reading this post, please also chime in!

–NM

P.S. The 2008 PKU News article referenced above discussed the blood-brain barrier in the context of an emerging therapy called Large Neutral Amino Acids, or LNAAs. The 2014 National PKU Alliance Conference in Salt Lake City July 10-13 includes a session presented by Dr. Eddy A. van der Zee from the University of Groningen who has received a NPKUA research grant to study LNAA Supplementation in PKU Mice.

Grab your walking shoes–spring has arrived!

The trees are turning green, flowers are in bloom and the birds have started singing again. Here in the South spring has sprung and that also means that lots of planning is underway for the Tennessee PKU Foundation’s two spring fundraisers–a walk for PKU in Nashville on May 3 and another taking place in Knoxville on May 17.

As they have done in years past, these two walks—as well as a third organized for Memphis, Tenn., later in the fall—are organized to raise money in support of PKU research. Since its inception, the Tennessee PKU Foundation has raised more than $63,400 for individual researchers and those supported through the National PKU Alliance. Other funds raised by the foundation stay within the state to support camp and conference scholarships as well as newborn welcome packets.

On a national level, the National PKU Alliance’s Scientific Advisory Committee—comprised of physicians, researchers and clinicians—reviews proposals submitted by researchers who are working in the inherited metabolic disease field and awards grants to those committed to advancing PKU treatments and ultimately developing a cure. Those researchers receiving grants from the National PKU Alliance in 2014 were just recently announced. You can read the full list of recipients on the nonprofit’s website, but two examples include Dr. Shawn Christ, associate professor of psychological sciences and associate director of the University of Missouri’s Brain Imaging Center, and Dr. Kristen Skvorak from the University of Pittsburgh Medical Center. Christ is examining the effects of PKU on gray matter structures in the brain, and Skvorak has been pursing ground-breaking experiments in liver cell transplants for PKU in a mouse model.

Several other U.S. states are also member organizations of the National PKU Alliance and if there’s one nearby your home, I encourage you to support them in their own individual fundraising efforts. However, if you do not have an affiliation with any of these groups but still feel so moved to also support PKU research, you can contribute online via the Tennessee PKU Foundation’s walk registration website. Even if you cannot attend one of these events in person, you can still play a role in supporting PKU research.

–NM

What’s in a name? A closer look at changing the name of PKU

Recently, the American College of Medical Genetics and Genomics released new guidelines in support of lifelong treatment for PKU. Among other recommendations, the organization also suggested the name of the disease be changed from PKU, short for phenylketonuria, to phenylalanine hydroxylase deficiency, or PAH deficiency.

The ACMG acknowledges that there are several ways to describe PKU severity and specifically calls-out at least two naming conventions that are commonly used:

1. PKU, the more severe diagnosis where untreated patients have blood phe levels greater than 1,200 μmol/l or 20 mg/dl and,
2. hyperphenylalaninemia, which represents a milder diagnosis where untreated patients are still above what’s considered normal but less than 1,200 μmol/l or 20 mg/dl.

After the National Institutes of Health introduced the term hyperphenylalaninemia in 2000, we started seeing an increasing number of clinicians, patients and families of patients refer to the first, more severe category as classical PKU. The new name PAH deficiency, the ACMG proposes, would eliminate the practice of using the blood phe level as the standard of classification by representing all of these variations.

The communications and marketing professional in me knows that over the life of a product or business, there may be many reasons the decision is made to change a brand name including mergers/acquisitions, changing markets, new leadership, and to even eliminate a negative reputation.

In the case of PKU and the ACMG’s recommended name change, the decision was made because PAH deficiency more accurately describes what the authors refer to as the “spectrum of severity.” But, it’s worth noting that descriptive names can also have their own subset of issues. Brand names that are too literal can become forgetful or inaccurate over time. Names that are too complex or long can impact a person’s ability to pronounce or remember it.

What’s more, we also know that the use of medical jargon can make it difficult for individuals to absorb and process health-related information. So what will the impact be when folks within the PKU community try to make the transition to phenylalanine hydroxylase deficiency? When phenylketonuria was introduced into the vernacular in 1934, it likely created its own source of confusion in the patient community. Yet, there is something to be said for brand recognition. Overtime, the brand familiarity of PKU has become stronger within the community and it’s likely that many PKU patients have a strong association with the term PKU, and to some extent, identify themselves with the now-outdated term.

It will take time for PAH deficiency to be wholly embraced. Even I have started to wonder, “What does this name change do to the title of my blog?” I’m not quite ready to makeover PKU Parlor, but I can acknowledge that with the name change there could be some benefits. For example, wrapping-up the varying levels of PKU severity under one umbrella may go a long way for securing universal medical food and formula coverage. Lawmakers and other decision makers will be less inclined to offer coverage to a severe group of PKU patients while simultaneously denying or restricting access to those with milder cases.

So as a member of the PKU PAH deficiency community, how do you feel about the name change? Are you reluctant to make the transition? Or do you embrace the new name and find yourself excited for the fresh start? I’d like to hear from you and what your reaction was to the suggested name change. Also, if you ever thought of alternative names for PKU, be sure to share them in the comments field below.

–NM

Setting a standard for the treatment of PKU

There’s some wonderful news floating around the PKU community this week: The American College of Medical Genetics and Genomics, in partnership with Genetic Metabolic Dieticians International, have released the first-ever, specific medical and dietary guidelines for the treatment of PKU. These guidelines are based upon the National Institutes of Health (NIH) 2000 Consensus Conference for PKU, the 2012 NIH Scientific Review Conference and a review by the U.S. Agency for Healthcare Research and Quality.

If you aren’t familiar with the healthcare industry, you may be asking yourself, “What’s the difference between medical consensus and medical guidelines?” Last year (in 2013), the NIH retired its consensus development program, but since it was created in 1977, the program created agreed-upon statements interpreting what was currently known about a medical condition as well as what research gaps might still exist. These statements—like the one the NIH issued in 2000 for the treatment of PKU—are then used to develop medical guidelines. Your medical team located at your local PKU clinic will use these guidelines to support the decisions they make related to your care. The introduction of these guidelines will undoubtedly play a critical role in ensuring that all patients in the U.S. and Canada receive the highest quality of care and treatment in the management of their PKU.

Listed below are the key recommendations from the new guidelines as summarized by the National PKU Alliance. Be sure to visit the New Guidelines for PKU section on their website to read a full summary or to download the new guidelines for the medical and dietary management of PKU.

• The guidelines refer to PKU as phenylalanine hydroxylase (PHA) deficiency.
• The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
• Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
• PAH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.
• Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
• Any combination of therapies (medical foods, Kuvan, etc) that improve a patient’s blood PHE levels is appropriate and should be individualized.
• Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
• Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
• Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted. A number of screening tests are recommended to identify those in need of further assessment.
• Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.

In the coming days and weeks, I’ll take a closer look at some of the specific issues outlined within the guidelines and discuss them in more detail here on PKU Parlor. I hope you’ll stop by and chime-in with your thoughts too!

–NM

PKU patients and caregivers can participate in study for evaluating device linked to PEG-PAL

If you live in the San Francisco Bay-area and either have PKU or care for someone with PKU, there is an opportunity to participate in a paid usability study for a potential medication delivery device.

The device at the center of the usability study would used to administer PEG-PAL, an injectable enzyme substitution developed by BioMarin Pharmaceutical that has shown to lower phe levels in PKU mice. According to the National PKU Alliance, PEG-PAL recently completed Phase 2 FDA clinical studies and all patients enrolled in that phase had experienced some measurable decrease in blood phenylalanine levels. BioMarin is moving forward with the third and final phase that would ultimately bring PEG-PAL to a commercial status, which also explains the recent interest in figuring out just how patients will react to the process of injecting themselves with the drug.

Interface Analysis Associates, the California-based human behavior consultancy firm that has partnered with BioMarin for this study, will offer two 30-minute sessions in early September 2013 and will pay participants $150 to learn how the device works and perform mock injections. There will be no needle pricks and no actual medication administered. Participants will be asked to provide feedback on their experience and preferences.

Click image to enlarge.

I was asked to participate in the study but because of the 2,500 miles between East Tennessee and the West Coast I had to respectfully decline. Nonetheless, it’s a great opportunity for others in the PKU community to directly impact the design and functionality of how this exciting new treatment will be delivered. It was also smart of BioMarin to initiate this usability study – not just from a bottom-line perspective but also because patients will have an investment in the product, the opportunity to suggest design improvements, and will likely become more satisfied with how it works.

If you’re interested in participating in the study, be sure to sign-up quickly. September is right around the corner!

–NM

P.S. If you do participate in the study, you’ll have to return to PKU Parlor and let us all know how it went! 🙂

Hair Loss experienced by PKU patients returning to the low-protein diet is temporary

There is some good news to report back to my blog followers: hair loss related to a return to the low-protein diet is temporary.

Earlier this month, I published a post titled Losing it: Both literally and figuratively over PKU and hair loss and during that post, I mentioned that PKU patients experiencing significant hair loss after returning to the PKU diet may want to see a specialist for insight behind the cause. I decided to take my own advice and scheduled an appointment with a dermatologist (I was referred to a dermatologist because of the profession’s specialization in matters related to the epidermis, or skin).

The dermatologist diagnosed my hair loss as telogen effluvium, or excessive hair shedding. She proceeded to describe to me a common cause of telogen effluvium where a major life stressor—say a car accident, pregnancy or even a crash diet—causes the hair follicles to stop growing. It is very similar to what was described to my clinic by another dietician. The dermatologist then sketched out a rough timeline on the paper covering the examination table and here below, I have tried to recreate it.

Click image to enlarge.

To summarize this graphic, the progression of my own hair loss coincided with what is commonly seen in cases of telogen effluvium. The initial shock to the system was my sudden return to the low-protein diet, and as a result, my hair follicles entered a resting phase. Generally speaking, the hair loss becomes noticeable about one to two months after the initial stressor when the new hair growth pushes out the resting hair.

Thankfully, this means that PKU patients who experience hair loss after returning to the PKU diet will eventually grow back their hair. In my case, I can already see “baby hairs” peeking through my hairline. Unfortunately, my dermatologist estimates it will take approximately two years before those baby hairs are long enough to tie back into a ponytail. In the meantime, I’ll embrace the heck out of some hairspray! 🙂

–NM

Losing it: Both literally and figuratively over PKU and hair loss

Let’s face it. Losing your hair in your early 30s—for whatever reason—is a scary experience. When mine started falling out in large quantities about two months ago, the coincidental timing with my return to the low-protein PKU diet did not go unnoticed. And while I’d rather deal with this humbling experience in private, I felt this subject warranted some attention especially since I’ve only been able to find bits and pieces of anecdotal evidence of the connection between PKU and hair loss.

So let’s start with what are some common reasons for hair loss:

• Protein deficiencies
• Deficiencies in vitamins (e.g. B and C), micro-nutrients (e.g. selenium and iron) and fatty acids
• Imbalance involving thyroid
• Autoimmune disease
• Poor blood flow or poor circulation to the scalp
• Fluctuating hormones
• Stress

Here’s what you can do if you determine that one or more of these may be causing your hair loss:

• Protein deficiencies—As was cited in this 2007 article from National PKU News, if a PKU patient is found to be protein deficient, simply increasing the amount of formula consumed each day could help. Speak with your PKU clinic and ask them to run an albumin blood test to determine if you are protein deficient.
• Vitamin, micro-nutrient and fatty acid deficiencies—Because the PKU diet is so restrictive, vitamin, micro-nutrient and fatty acid deficiencies are likely culprits. A 2010 article from Karger Publishers titled Nutritional Management of Phenylketonuria notes that “Some AA [amino acid] products are devoid of vitamin and mineral supplements to improve taste and acceptability with the assumption that separate vitamin and mineral supplements will be taken each day,” (p. 62). The article goes on to note that the PKU diet tends to contain more carbohydrates and less fatty acids. To help counteract these deficiencies, you may want to take a daily multivitamin and make an effort to consume more vegetable oils that are rich in linolenic acid such as canola or soybean oil.
• Autoimmune disease, thyroid, poor blood flow and fluctuating hormones–These conditions may indicate that something is wrong independent from the PKU diet; however, it is not impossible for PKU patients returning to the diet to also experience one or more of these. For example, maternal PKU patients may experience “wonky” hormones during and after pregnancy. In any case, these conditions may require a specialist consultation outside of your PKU clinic.

Through the process of elimination, I’ve been able to rule out most of these in my case. Unfortunately, stress—the last reason cited above—is difficult to manage on the low-protein diet. In this case, there are two types of stress worth distinguishing:

1.)    The mental stress it takes to deal with the complexity of the diet, accessibility issues and societal peer pressure

AND

2.)    The physical stress or toll that it takes on the human body when a person returns to the PKU diet

According to a registered dietician my clinic consulted with, hair loss from the sudden shock of returning to diet (which in my case was “cold turkey”), causes a large percentage of the hair follicles to enter into a resting or dormant phase. The patient doesn’t experience hair loss at that moment, but rather when the hair goes from the sleeping stage back into the growing phase, the new hair comes up and pushes old hair out. So in effect, the hair loss I am seeing now actually happened months ago, presumably when I returned to diet in January of this year.

This theory about the stress a body endures after returning to the PKU diet is simply that…a theory. There is little to no research confirming this theory however plausible it may seem. PKU medical professionals may chose to ignore the matter altogether on the premise that they are there to treat the diet and nothing else. This narrow approach to PKU medical treatment is concerning though, especially when you consider that hair loss may become one of the most difficult barriers to dietary adherence. At least it has been for me. In the interim, until more is known about how to treat or avoid PKU-related hair loss, this scenario may also be another “case-in-point” for the need to supplement PKU dietary care with mental health support.

–NM

Be sure to check out the follow-up post on PKU-related hair loss: Hair loss experienced by PKU patients returning to the low-protein diet is temporary.

What I learned about PKU from 8 million books

This post is an adaptation of the “TED Talk,” or a video lecture, that was presented by Harvard University’s Erez Lieberman Aiden and Jean-Baptiste Michel in September 2011 called “What we learned from 5 million books.” Essentially, the two researchers created a tool called the Ngram Viewer, which allowed them to search the millions of books that Google has scanned and made publicly available. The large volume of text—which spans centuries and now includes more than 8 million books and approximately a half trillion words—can provide insights into our world, our history and emerging trends simply based on the popularity of certain words or phrases.

Naturally, I wondered what this nifty tool could tell me about the history of PKU and how its treatment has evolved over the years. Before experimenting, I had to narrow the dates in which I would conduct my search. Google’s digitized books include publications between the years 1800 and 2000. For the purpose of investigating PKU, I selected 1930-2000. To understand why, here’s a brief look at PKU chronology:

• 1934 – PKU discovered by Norwegian physician Dr. Ashbijorn Folling
• 1953 – Researchers found that a phenylalanine restricted diet helped to treat PKU patients
• 1963 – Guthrie Method developed (Bacterial Inhibition Assay)
• 1965 – Newborn screening initiated in the U.S.
• 1980s – The gene responsible for phenylalanine hydoxylase production was isolated and since that time over 500 mutations in the gene have been identified

And here are some insights that I gathered:

We can visually see how PKU has prepared the way for newborn screening

Click on graph to see a larger view.

Metabolic disorders were in the English vernacular long before PKU or newborn screening. But we can tell the results of this search correlate with the chronology of PKU. The PKU acronym appears as early as the 1930s—when Folling discovered PKU—but it does not pick up in frequency until the Guthrie test was created in the 1960s. Almost immediately or soon thereafter, the concept of newborn screening takes off. We now know that the Guthrie test, which was originally developed to screen for PKU at birth, has led to newborn screening tests for more than 40 developmental, genetic and metabolic disorders.

PKU is most commonly described as a disease

Click on graph to see a larger view.

One of the cool features of the Google Ngram Viewer is that you can use the characters “=>” to determine what words are used to modify other words or phrases. For this particular search, I wanted to see what adjectives were used to describe PKU. Was it disease, disorder or syndrome? As you can see here, disease is the most common descriptor for PKU while syndrome is the least frequently used term. Interestingly, disease is also the first descriptor we see in the literature—it appears that old habits are hard to break!

The practice of counting phe has overtaken the practice of counting grams of protein

Click on graph to see a larger view.

When I was on the PKU diet growing up in Pittsburgh, Penn., my mother counted phe exchanges. When I first considered a return-to-diet not too long ago, I was advised to count grams of protein. However, after speaking to some other women with PKU, I’ve learned that counting milligrams of phe is a more precise way to track protein intake, especially when considering a PKU pregnancy. Given that experience, I wanted to see what published works in the Google library might suggest is most commonly cited. Here you can see that while the use of grams of protein started strong in the 1930s, tracking milligrams of phe has slowly gained popularity and eventually taken the lead. Interestingly, phe exchanges are not mentioned at all.

The word diet is still overwhelming used to describe PKU medical care

Click on graph to see a larger view.

For my last Ngram PKU search, I decided to compare the phrases PKU diet and PKU treatment. In the past, some PKU patients have been denied access to medical formula and foods because of the misconception that the PKU diet is cosmetic and for losing weight. Despite that barrier to PKU therapies, there has been little effort to change the language by which we describe medical care for PKU. Perhaps if Google expanded the scanned library of books to include the years beyond 2000, we would start to see a reversal in this trend.

To be fair, there are some limitations to conducting this Ngram PKU experiment. PKU literature is mainly published in research journals rather than actual books and more recent developments like the first FDA-approved prescription drug to treat PKU would not be included within this data. Nonetheless, I couldn’t resist having a look to see what kind of insight this tool might provide.

Have you played with Google Labs’ NGram Viewer? What other PKU trends and phrases do you think would be interesting to search for?

–NM

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.

Two 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 50^th 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, 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.

–NM