Tag Archives: National PKU Alliance

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

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Filed under Conferences & Events, Lo-pro Diet Management, Maternal PKU, Research, Technology

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.

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Grab your walking shoes–spring has arrived!

Walk for PKU, PKU Research, Donate to PKU

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

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Setting a standard for the treatment of PKU

new PKU guidelines, PKU standards, dietary and medical recommendations for 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

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Five ways to recognize National PKU Awareness Day through Giving Tuesday!

PKU Awareness Day, Giving TuesdayLast year, in recognition of first-ever National PKU Awareness Day, I created a wish list of sorts for what a national platform could mean for a rare genetic disorder like Phenylketonuria. This year, I decided to make a different kind of list – one that capitalizes on the spirit of giving.

The inspiration for this list came to me after hearing a radio announcer observe that after just coming through Black Friday and yesterday’s Cyber Monday, today is known as Giving Tuesday. I immediately thought, what better way to celebrate National PKU Awareness Day (which also happens to be today) than to give-back to one of the many PKU non-profit causes!

So on that note, here are just a few ideas for how you can celebrate five worthy causes in honor of both National PKU Awareness Day and Giving Tuesday:

National PKU AllianceThe National PKU Alliance – Created in 2008, the National PKU Alliance was established to serve as a voice for PKU patients and families by focusing on a number of mission goals such as improving insurance equality, funding for peer-reviewed research and supporting the ongoing effort to find a cure. You can read more about this non-profit’s accomplishments in its 2012 annual report and tax deductible donations can be made through the National PKU Alliance website.

Bring Fanni Home

Bring Fanni Home – Anna Parker, a PKU patient/mom, and her husband Brandon have been trying bring home Fanni, a little girl in China, also with PKU, who had been abandoned on the public transit system at the age of four. The $30,000 price tag for international adoption can seem insurmountable; however, with the support of generous PKU community, we can help bring Fanni home to the Parkers. This Giving Tuesday/National PKU Awareness Day, consider making a $10 donation to this very worthy cause. Visit the Bring Fanni Home website for more details.

National PKU NewsNational PKU News – Located in Seattle, Wash., National PKU News is pushing its 25th year anniversary for providing current and accurate news related to PKU. Virginia Schuett, the organization’s founder is a former PKU nutritionist and is also responsible for several other fabulous PKU resources like the Low-Protein Food List, Low Protein Cookery for PKU and Apples to Zucchini: A Collection of Favorite Low Protein Recipes. According to the National PKU News website, “newsletter subscription fees and sales from books provide less than 50 percent of the financial needs of the organization.”  Your donations to this multi-faceted organization will help it reach its 25th anniversary and many more to come!

Cook for LoveCook for Love – This invaluable resource has been one of my favorite go-to resources for PKU recipes. Cook for Love is a culinary website created by Brenda Winiarski, mother of two PKU children. The foods she has created come as close to traditional, high-protein foods as any other I’ve seen. My mother has often joked that some foods on the Cook for Love website feel more like science experiments than a recipes, but honestly Brenda and her partners have done an amazing job mimicking food properties like the rise of a loaf without flour and the binding of a cake without eggs. Completely dependent on donations, all of the recipes posted to Cook for Love are free to access with the creation of a user name and password. A $25 donation will help ensure that Cook for Love can continue to maintain the website as well as the genius behind these tasty foods.

Tennessee PKU FoundationSupport your local PKU organization – Many groups like my local Tennessee PKU Foundation support efforts similar to the National PKU Alliance but on a more regional level. These groups also rely on donations to educate and raise awareness about PKU and other metabolic disorders. The Tennessee PKU Foundation accepts donations via mail or you may also contribute online. Be sure to check out your local PKU organization and contact them to see how you can support them.

–NM

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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.

Usability Study for PKU Patients and Caregivers

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! 🙂

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PKU Letter Campaign to HHS Makes an Impact!

There’s some good news to report in the PKU community: the Health and Human Services letter writing campaign–initiated by the National PKU Alliance aimed at ensuring that every state’s essential health benefits plan provides coverage for medical foods–has made a difference. This article, originally published in Congressional Quarterly’s Healthbeat News on Dec. 21, 2012, provides more details about how those comments have been received.

 Patients Bombard HHS With Pleas on Essential Benefits Packages
By Jane Norman, CQ HealthBeat Associate Editor

Congressional Quarterly HealthBeatParents of children with rare diseases, advocates of acupuncture and other individuals are beginning to flood the Department of Health and Human Services with pleas and complaints about which specific services should be included in states’ essential health benefits packages.

Public comments on a proposed rule on essential health benefits aren’t due until Dec. 26, but more than 1,000 responses already have been received, according to the government website where the reactions are posted. Nearly all the comments so far are from individuals rather than organized groups or health business interests, though those groups also are starting to weigh in.

The letters from worried patients, doctors and family members across the country are an indication of the intense interest not just within the health industry but also among members of the general public – many with diseases or chronic conditions – in the outcome of decisions on benefit packages, which will vary from state to state and have a major impact on some people’s lives.

More than 11,000 comments had been filed in response to a bulletin issued on benefits before the rule was unveiled a month ago.

Some writing in are also asking for more time for comments to be gathered, saying that 30 days stretching over the holiday season isn’t enough time for people to digest a 119-page proposed rule and offer input on what should be changed. “Thirty days during the holiday is poor timing,” said an anonymous comment that suggested 90 days instead.

On Nov. 20, the Centers for Medicare and Medicaid Services released its proposed rule (See related story CQ HealthBeat, Nov. 20, 2012) establishing the essential health benefits required under the health care law (PL 111-148, PL 111-152). Non-grandfathered health plans offered inside and outside exchanges must, under the law, include benefits in 10 broad categories of services. State officials are supposed to pick a benchmark plan in their state as a model. HHS included some additional specific details on benefits in its proposed rule, but many commenters want more.

Don Hossler, who didn’t list an address, said in a comment that the federal government should have required that states get public input before naming their benchmark plans, including from groups that advocate for people with disabilities. “I realize there is a short time for a state to conduct meaningful public comment,” he said. “However, grass-roots organizations need to be allowed ‘at the table’ to enhance the decision based on consumer input.”

Dozens of people have written in already asking that coverage of medical foods be included for patients with PKU, a rare, inherited metabolic disorder in which the body can’t process the amino acid phenylalanine. Treatment must be started early in order to avoid damage to the body and involves a special diet, according to the National PKU Alliance.

Aleksandra Pisarek wrote that she is the mother of an 8-year-old boy with PKU who will require lifelong treatment to avoid brain damage. “Failing to ensure coverage for medical foods discriminates against people with PKU based on their disability,” she wrote.

The National PKU Alliance has urged members to write HHS, noting that the decision on medical foods may be left up to each state unless the government requires coverage of medical foods as part of the essential benefits category that covers chronic disease management. “Representatives from the NPKUA recently met with HHS on this issue, and HHS urged us to have as many people as possible submit comments on the new regulations,” the alliance’s website states.

Another group whose members sent many letters to HHS are those who receive or administer acupuncture treatment. Patricia Solomon, a Massachusetts pediatrician, said that “some of my most aware and careful parents seek acupuncture” and other alternative health treatments for their children. She said she was dismayed to see no alternative treatments included in the standards outlined for benefits. “Their value as adjuncts to traditional medicine is becoming clearer,” Solomon said.

Tabitha Silver of New York wrote, “Acupuncture has changed my life. It was the only thing that helped me with depression and pain.”

Stephen Scholle, the clinical director of a nonprofit that serves mental health consumers in Westchester and Rockland counties in New York, said his group provides acupuncture and should be included in essential health benefits, perhaps as part of wellness and preventive care. It helps with stress relief, pain relief and mental well-being, Scholle wrote.

Another commenter, Terri Bukacheski, said she is concerned that rehabilitative services and devices that are required to be provided in one essential benefits category are not well-defined. “Patients that require prosthetic limbs and orthopedic braces require these custom services for a lifetime, and the care must be provided by highly skilled experts,” she wrote. Devices should be clearly defined to include prosthetic and orthotic services, she added.

The time period for submitting comments in response to the “Patient Protection and Affordable Care Act: Standards Related to Essential Health Benefits, Actuarial Value, and Accreditation” rule has passed; however, visit the National PKU Alliance website for more information on how to support future advocacy efforts.

–NM

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