|2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC|
The next annual SERN/SERGG meeting will be held July 19-21, 2018 at Renaissance Asheville Hotel in Asheville, NC.
More information available on the SERGG website: http://sergg.org/…
|Emergency Preparedness Toolkit for Genetic-Based Inherited Metabolic Disorders|
The Emergency Preparedness Toolkit for Genetic-Based Inherited Metabolic Disorders was developed by the SERN Consumer Alliance Emergency Preparedness Workgroup. The toolkit includes disorder-specific lists of supplies needed in case of emergency, as well as a general list of basic emergency preparedness supplies. It is available to be printed, posted, and shared: http://southeastgenetics.org/ept/…
|FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders |
FDA News Release
The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.
LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected…
|National PKU Alliance: Schedule In-District Meetings NOW! |
Schedule In-District Meetings NOW!
Members of Congress will be working locally May 28 - June 1. Please schedule a meeting with them in your home state to discuss the Medical Nutrition Equity Act (Senate Bill: S. 1194 and House Bill: H.R. 2587). Asking for their support and co-sponsorship locally is KEY. Did you know Senator Grassley agreed to co-lead the MNEA with Senator Casey after a local meeting with two PKU grandparents? He did! Local meetings make a difference. Don't delay, WE NEED YOUR HELP!
Scheduling a meeting is easy! Check out the NPKUA Medical Nutrition Equity Act page for step-by-step instructions. You can also go directly to our phone scripts by selecting the links below.
Phone script for scheduling an in-district meeting with your U.S. Representatives
Phone script for scheduling an in-district meeting with your U.S. Senators
|National PKU Awareness Day: December 3, 2017|
The first National PKU Awareness Day, December 3, 2012, was established by a Congressional Resolution introduced by two U.S. Senators (Johnny Isakson from Georgia and John Kerry from Massachusetts). The resolution explains what PKU is, the history of PKU, and the importance of sharing information about PKU with others. Join the celebration and spread awareness with Emory University Department of Human Genetics!
SPREAD AWARENESS TO YOUR SOCIAL MEDIA NETWORK
If you use social media platforms such as Twitter, Facebook, or Google+, post on your status an announcement for National PKU Awareness Day on December 3rd . Share the following web links:
Emory Resources for individuals and families affected by PKU
Metabolic Genetics Nutrition Program
Medical Nutrition Therapy for Prevention (MNT4P)
Newborn Screening (NBS) Connect Patient Registry
Non-profit organizations that collaborate with Emory to support individuals and families affected by PKU…
|Limestone Life article highlights PKU (Athens, AL) |
Athens, AL based magazine Limestone Life features an article in their latest edition about Adam and Julie Tucker and their daughter who is diagnosed with PKU: Local Mom Works to Generate Support for Rare Disorder…
|Moms and future moms with rare inherited disorder aim for healthy babies|
"Pregnant women with PKU face special challenges like the threat of having a child with developmental delays even if the baby doesn't have PKU. Maternal PKU refers to any number of fetal abnormalities that result from an expecting mother with PKU who has excessive Phe levels in her blood. So even though a woman with PKU may not have symptoms herself, because she's adhered to a restrictive diet throughout her youth, her baby could still face devastating consequences if she lapses during pregnancy."Full article and video here: http://news.emory.edu/stories/2017/08/video_maternal_pku/campus.html…