Tag Archives: Newborn Screening

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.

–NM

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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?

–NM

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