Kevin has Phenylketonuria (PKU)

‘THIS IS MY NORMAL’

Kevin Alexander is a normal guy.  He likes to play electric guitar, video games, and write music.  He enjoys listening to movie sound tracks, playing in a band and is a professional Videographer.   What most people would not realize about Kevin is he is living with Phenylketonuria (PKU) – a rare inherited disorder resulting from Phenylalanine hydroxylase (PAH) deficiency.  If not treated within the first few weeks of life, serious neurological problems will occur.

Kevin,  the Founder of Creative Control Films is passionate about his work.   Not only has he produced over 10,000 videos (including documentary shorts, TV spots, corporate videos and others) and traveled the world, Kevin was recently elected as Chair of the Board of the Metabolic Disease Foundation.  The goal of  the international organization is to provide social support and material to PKU sufferers and others with metabolic diseases.  The Global Genes Project (GGP) team had the opportunity to speak with Kevin about his life with PKU.

GGP:  What do you enjoy most about your work?

“I love telling stories and believe I have an obligation to the PKU community to share my and others’ experiences about living life with PKU.

As a filmmaker, Kevin is a unique individual whose ultimate dream is to produce entertainment with purpose.  His short documentary “My PKU Life” has been viewed over 3,800 times in 55 countries. The response has been so overwhelmingly positive that Kevin plans to produce a feature-length documentary on PKU.

GGP:  What is most challenging about PKU?

“My biggest challenge is social situations.  People treat me differently because I eat differently.   My friends understand PKU is very difficult, but-non PKU people think I am VERY different.  I’ve had to adjust to other’s perceptions and learn to cope with what other people expect is the norm.”

Although Kevin has a higher tolerance for protein than most PKU sufferers and can get away with the occasional small dose of pasta and cream in his Starbucks coffee, those who do not understand PKU find Kevin to be weird.   Over the last few years, Kevin has focused on educating others about PKU and in return has gained more acceptance from others.

“Up until recently, I wouldn’t have talked about PKU, and people would look at me as weird and different.  The more that I have been able to communicate about PKU and accept help from others, I have come to the realization that I don’t care.  I’m going to be me.  Attitude is everything.”

GGP:  If you could share one message to others about Rare Disease, what would that be?

“Just because I eat something different, doesn’t mean I am strange.  So long as I have access to my medicines, I am normal like everyone else.”

“From a communication perspective there are two audiences.   You have the PKU audience  and the ones that don’t know about PKU at all.  I made the video to get the message out to the world at large that Phenylketonuria exists and because of lack of funding issues we need help.”  Kevin would like to continue to raise awareness about PKU as well as raise funds for research and better access to medical formulas.  Kevin states:  ”We need more research.  For most people, whatever is your normal you take for granted.  For individuals with PKU, our  formula is the most basic thing.  We have to have it to survive.

GGP:  What is your normal?

Phenylketonuria PKU

You can visit Kevin on his Facebook page on:  http://www.facebook.com/kevpku

Learn more about Phenylalanine Hydroxylase Deficiency and PKU here:  http://www.ncbi.nlm.nih.gov/books/NBK1504/

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR PHENYLKETONURIA PKU

Health and Human Services Secretary Adopts New Recommendation on Newborn Screening
Recommended Uniform Screening Panel now to include Critical Congenital Heart Disease

WASHINGTON, DC – September 22, 2011 – Health and Human Services Secretary Kathleen Sebelius adopted the recommendation of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) that Critical Congenital Heart Disease (CCHD) be included on the Recommended Uniform Screening Panel (RUSP). RUSP is the national recommendation informing states of the congenital conditions that should be included in each state newborn screening program. The SACHDNC put this recommendation forward last year, after following the robust evidence review process they have pioneered. After receiving additional review from the Interagency Coordinating Committee on Screening in Newborns and Children, Secretary Sebelius determined that intervention for this condition during the newborn period is critical to saving lives.

CCHD is a group of heart-related conditions present from birth that cause nearly 3% of infant mortality during the first year of life. Newborn screening for these serious, though often treatable, conditions will include the addition of pulse oximetry screening during the newborn period. Early detection of CCHD, which affects 7 to 9 out of every 1000 live births, allows for critical intervention preventing brain damage, and infant death. This point-of-care screening joins the previously approved blood spot and hearing components of newborn screening.

Genetic Alliance commends Secretary Sebelius’ work and plans to include CCHD in their ongoing newborn screening outreach efforts, through their newborn screening resource Baby’s First Test (www.babyfirsttest.org).

“The process of adding a new condition to the RUSP is a well thought out, rigorous and real, process. Balancing the need for evidence with the urgent needs of the nation’s newborns is critical. We applaud the Secretary’s decision, and look forward to the interagency implementation plan of action”, said Natasha Bonhomme, newborn screening director for Genetic Alliance.

###

About Genetic Alliance
Genetic Alliance transforms health through genetics, promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance brings together diverse stakeholders that create novel partnerships in advocacy; integrates individual, family, and community perspectives to improve health systems; and revolutionizes access to information to enable translation of research into services and individualized decision making. For more information about Genetic Alliance, visit http://www.geneticalliance.org.

Dear Friends,

Thank you all for participating in today’s conference call. The bills, Omnibus bill SF 760 and the stand alone bill SF 1017 are moving quickly through the Minnesota Senate. Soon, they will go to the House. We are trying to get parents to agree to visit legislators this week and next and the Governor. Marianne Keuhn from March of Dimes has agreed to arrange these meeting. We may also hold a press conference to discuss the benefits of newborn screening and the threat from the Minnesota bills to babies. Please reach out to your MN members ASAP and see if they will go to meet the legislators with Marianne and/or attend a press conference. They should bring photos of their children along.

Marianne’s contact info is:

Marianne Keuhn

State Director of Programs & Public Affairs

March of Dimes

952-835-3033

Mkeuhn@marchofdimes.com

Thanks you for your help.

Kelly R. Leight, J.D.

Coordinator

Preserving the Future of Newborn Screening

URL: www.newbornbloodspots.org 

Email: kelly@newbornbloodspots.org

Tel: 973-440-8787

Newborn screening is a vital public health activity that is essential for preventing the devastating consequences of certain metabolic, hormonal, genetic and or functional disorders not clinically recognizable at birth. If all infants are diagnosed and treated early, serious problems including disability and even death can be averted. Disparities among states screening tests persist, which could have dire consequences for an infant diagnosed with one of these rare and extremely serious birth defects. Early diagnosis and proper treatment are essential and can make the difference between lifelong impairment and healthy development.

“With all the statistics, politics, and government budgets, it is sometimes easy to overlook what newborn screening is all about – saving lives,” says Jill Levy-Fisch, President of Save Babies Through Screening Foundation. “This show is a great education and awareness opportunity for the more than 1 million viewers that typically watch the show. We are so thankful to Scott and Renee for all of their efforts to spread awareness of newborn screening. This also means that the SBTS Newborn Screening Public Service announcement will be seen by more than 1 million viewers on Monday – wonderful!”

The Doctors TV Show produced by Phil McGraw and his son Jay McGraw, talks about health and medical issues. The Doctors is hosted by ER doctor and The Bachelor contestant Travis Lane Stork, with pediatrician Jim Sears, obstetrician/gynecologist Lisa Masterson, marriage and family therapist Tara Fields, and plastic surgeon Andrew Ordon.

Jill Levy-Fisch
jf2545@aol.com