Tag Archives: National PKU Alliance

An Open Letter to Health and Human Services

On Monday, December 10, 2012, the following letter was submitted to the U.S. Department of Health and Human Services via www.regulations.gov, an openly accessible website that enables the public to weigh-in on the federal decision-making process. This particular letter was submitted in response to the “Patient Protection and Affordable Care Act: Standards Related to Essential Health Benefits, Actuarial Value, and Accreditation” rule, which would leave the decision to each state to select its own essential health benefits. If this rule were to pass, then states may or may not include coverage for medical foods to treat patients with Phenylketonuria – or PKU.

Patient Protection and Affordable Care Act, PKU, Phenylketonuria, Regulations.gov

Regulations.gov is the government site that allows citizens to submit comments on proposed regulations and related documents published by the U.S. Federal government.

Centers for Medicare & Medicaid Services
Department of Health and Human Services
Attention: CMS-9980-P
P.O. Box 8010
Baltimore, MD 21244-8010

Dear Health and Human Services:

As I sit here drafting this very response to proposed rule CMS-2012-0142, the State of Tennessee where I reside is all a buzz with the news that Governor Bill Haslam has announced his decision that Tennessee will not run its own health-care exchange. The decision means that under the Affordable Care Act, the federal government would create online market exchanges where consumers could purchase individual private health-insurance coverage plans. Evidently, more than 20 states have announced similar decisions in advance of the December 14 deadline imposed by the White House. Nonetheless, it is still imperative that the those within your organization ensure that every state across the nation offer health benefit plans that provide coverage for medical foods for the treatment of Phenylketonuria (PKU) under the chronic disease management category.

Representatives from the National PKU Alliance recently met with HHS on this issue and reiterated the notion that PKU is a rare genetic disorder that requires lifelong treatment to avoid brain damage, which can cause severe mental retardation and other neurological complications. In response, you requested that I and others in the PKU community submit comments and concerns regarding the proposed new regulations no later than Dec. 26. This letter contains my thoughts and I will be posting this letter to my PKU Parlor blog in the hopes that others will also submit comments.

So that you are reminded that your decisions will impact real people, here is a brief background on me and my experience living with PKU:

Thanks to newborn screening, I was diagnosed with PKU at birth and immediately placed on a low-protein diet. For me, this meant not eating any meat, dairy products, NutraSweet or any other combination of foods that were known to be high in protein. I was required to drink medical formula each day to help supplement the nutrients I was missing as a result of the restricted diet. Growing up in a suburb just outside of Pittsburgh, Pa., I was fortunate to have my medical formula covered by the state health department and managed to maintain the low-protein diet for much of my early childhood.

I was allowed to go off-diet at a young age, back at a time when doctors within the field thought that such discontinuance was a good idea. Nowadays, after decades of proven evidence-based success in treating PKU patients with medical foods, the medical community realizes that failing to ensure coverage for PKU is catastrophic and will lead to mentally damaged babies and PKU adults living with severe disability. I was able to live for many years without being on the restricted diet, but it is important to note that there are many variations of severity in PKU as there are with diabetes. I am what you might say is a high-functioning off-diet PKU patient…but not the norm.

Despite my ability to succeed off-diet, I have recently faced challenges when trying to return to the low-protein diet. That is because as a young woman, recently married and ready to start a family, I have had to come face-to-face with the realization that before I can even conceive, I must drastically lower my protein levels and prove I can maintain those levels throughout the duration of a pregnancy. This situation, often referred to as maternal PKU, has varying levels of success depending on the mother-to-be’s access to medical care, formula and low-protein food products. It is also worth noting that in the process of re-acquainting myself with the low-protein diet, I quickly learned that without insurance, it would cost an average $800/month just to drink the formula. The State of Tennessee does not cover the cost of PKU formula, which when compared to my birth state, provides just one example of the great disparities already existing among our 50 states. Obviously, purchasing low-protein foods such as low-protein pasta, imitation meat and non-dairy cheese would cost even more.

In short, providing this coverage nationwide will ensure that PKU patients adhere to the diet and continue to serve as productive members of society. Without insurance coverage, the cost of formula and food is comparable to what many middle-class families pay for rent or mortgage. Failing to ensure coverage for medical foods would discriminate against people with PKU based on their disability, which is expressly prohibited by the Affordable Care Act. And to draw upon a diabetic metaphor one last time, medical foods are as important to a person with PKU as insulin is to a person with diabetes.

Thank you for your time,

Nicole Merrifield




Filed under Advocacy

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