Moving On with Mito: A Guide for Teens and Young Adults Living with Mitochondrial Disorders
This comprehensive, 28-page guide offers sections on understanding the biological basics of mitochondrial disorders, achieving life goals including going to college, working, and living independently, and transitioning to adult health care. The guide was authored by Rob Auffrey, MA, Emerson College with supervision by Susan Waisbren, PhD, Boston Children’s Hospital, Harvard Medical School, and Tim Edgar, PhD, Graduate Program Director for Health Communications at Emerson College. The guide was developed in collaboration with the Metabolism Program at Boston Children’s Hospital, GEMSS for Schools, and the New England Genetics Collaborative, and with input from Mito Action, Next Step, the United Mitochondrial Disease Foundation, and especially from young adults living with mitochondrial disorders sharing their perspectives, insights, and suggestions.
Educator’s Guide to Urea Cycle Disorders is Now Online
We ported our popular Educator’s Guide to Urea Cycle Disorders from the print-ready version to a web version. The guide is designed for teachers, nurses and parents of students with UCDs to enable better communication around students’ health and academic needs. To date the online version has been viewed 412 times, is one of our top 25 most visited online guides, and is viewed for an average of 4 minutes per visit, indicating that readers are accessing the guide in-depth.
Consortium Web Site Readership
From mid-November 2013 to mid-November 2014 we had 30,832 visitors viewing 76,990 pages of content on the web site of the New England Consortium of Metabolic Programs. Readers also downloaded PDF versions of our online guides 2,127 times. Our readers are from 5,657 cities in 159 countries, with New York, London, Boston, Sydney and Riyadh yielding the most readers. 46% are female, 54% are male, according to Google analytics, and most are under the age of 44. The chart at right shows the age demographics of our readers.
We continued to get requests from health care providers and students around the world to use text and illustrations from the Consortium web sites resources. Requests this past year have come from:
- Temple Street Children’s University Hospital, Dublin Ireland
- The University of Newcastle, NSW, Australia
- Health Education West Midlands, Birmingham, UK
- Cardinal Glennon Children’s Medical Center, St Louis, MO
- SOARD (Surgery for Obesity and Related Diseases) the Journal of the American Society for Metabolic and Bariatric Surgery
- University of Hong Kong, School of Professional and Continuing Education
ABAS-II Online Assessments Ported into REDCap
After last year’s successful pilot of the online ABAS-II assessments using the PsychData survey development platform, we made the decision to port the assessments to REDCap, for ease of use and cost savings. Neuropsychologists and study coordinators of the Urea Cycle Disorders Consortium, and staff members of the Cranio-Facial Clinic and the Department of Plastic and Oral Surgery at Boston Children’s Hospital have been using the new REDCap versions of these assessments. A requested feature we added is allowing the rater to complete part of a lengthy survey, save it, and return to finish it at a later date.
WPS 65th Anniversary Unlocking Potential Award!
We’re very happy to announce that Western Psychological Services has chosen Boston Children’s Hospital, Division of Genetics, Metabolism Program as one of the winners in the Research category of the WPS 65th Anniversary Unlocking Potential Awards! The award recognizes Dr. Susan Waisbren, Freedom Baird, and Vera Anastasoaie for making the ABAS-II psychological assessments available online and demonstrating their efficacy as a universal screening, follow-up, and research instrument for patients with in-born metabolic conditions.
MA State Budget Includes Support for PKU Patients and Families
Massachusetts State Representative Christine Canavan, proud PKU grandmother and avid supporter of the PKU community, was able to restore $50,000 to the New England Connection for PKU and Allied Disorders (NECPAD) in an amendment to the Massachusetts Fiscal Year 2013 House Budget. With advocacy by many, the PKU amendment was included in the budget which passed in July 2013. The funds will be administered by NECPAD in consultation with the Department of Public Health (DPH). Support for PKU patients and their families residing in Massachusetts include: reimbursement for low protein food or formula (not covered by insurance); medical cco-pays and costs; scholarships to the YMCA Summer Camp and to Teen Challenge; scholarships to PKU-related conferences and events; cost of appliances such as scales, freezers, and blenders. A very big Thank You to all who advocated to include the amendment in this year’s budget!
Transition Toolkit Upgrade!
We’ve revised and improved our popular Transition Toolkit, a comprehensive health guide for teens and young adults with metabolic disorders who are transitioning to more independent living. We’ve updated the Health Readiness Assessment, Medical Health Summary, and Transition Plan. And we’ve added Metabolic Condition Basics Guides for six additional metabolic conditions, bringing the total to eleven!
Piloting Online Neuropsychological Assessments
As part of our work with the Urea Cycle Disorders Consortium, we are facilitating an international team of researchers to pilot online versions of neuropsychological assessments. We’ve providing training in and and will be evaluating the efficacy of three online assessments — ABAS-IIs, BRIEFs, and CBCLs. Data from these will be used in the Rare Disease Clinical Research Network’s ongoing longitudinal study on UCDs. The online BRIEFs and CBCLs are offered by their respective publishers, PAR and ASEBA, and the online ABAS-II was built by our team in contract with the publisher, WPS, using the PsychData platform.
Dr. Harvey Levy – Heros of PKU – Asbjørn Følling Lecture 2012
We are delighted to report that Dr. Harvey Levy of Boston Children’s Hospital and the New England Consortium of Metabolic Programs was presented with the Asbjørn Følling Memorial Lecture Award for delivering this talk, “Heroes of PKU — A History”, at the 4th European Phenylketonuria Group Symposium “Advances and Challenges in PKU”. The symposium was produced by Serono Symposia International Foundation, and took place in Rome, Italy, March 23-24, 2012.
An Educator’s Guide to PKU
We created this Educator’s Guide to PKU for teachers to help support children with PKU at school. Developed in the Divisions of Metabolism and Genetics at Boston Children’s Hospital, with input from teachers, students, and parents, the guide includes helpful information about low-Phe nutrition, common learning challenges, guidance for educators, resources to find additional information and support, and more!
PKU Newsletter – for Adults with PKU
We hope all adults with PKU will enjoy reading this newsletter describing recent events, new treatments and upcoming studies. If you would like more information, please contact your PKU Clinic or one of us at the Boston Children’s Hospital Metabolism Clinic. You’ll find contact information in the newsletter.
NECPAD State Budget News
Representative Christine Canavan, proud PKU grandmother and avid supporter of the PKU community, was able to restore $50,000 to NECPAD in the FY 2013 Massachusetts House Budget. If passed by the Senate and the Governor, these funds will be administered by NECPAD in consultation with the Department of Public Health (DPH) to support PKU patients and their families who reside within Massachusetts. A few years ago NECPAD was awarded $75,000 to help reimburse patients and families for low protein food or formula (not otherwise covered by insurance), medical co-pays/costs, scholarships to the YMCA Summer Camp and Teen Challenge, and other organized conferences/events, appliances such as scales, freezers, blenders and the like, to name a few items. Click here to learn more about how to support this much-needed PKU funding amendment.
A Family Day of Winter Fun!
Saturday, March 4, 2012, 10am-1pm
Amesbury Sports Park, 12 South Hunt Road, Amesbury, MA 01913
Families affected by PKU and allied disorders, and their extended family and friends, are invited to this fun winter outing! The event is being hosted by your friends at NECPAD – The New England Connection for PKU and Allied Disorders.
Tickets are $20.00 per person which includes snow tubing and lunch. NECPAD is happy to reimburse our PKU and Allied Disorder families for up to 4 tickets per family.
Children ages 4 and up are welcome to participate! Children ages 4-6 are required to wear a helmet, and must bring their own helmet, as they are not available on site. Please see the Amesbury Sports Park web site for a complete list of rules and regulations.
To get tickets mail in pre-registration and payment with this form, by February 24th, 2012. Please note, the registration fee is non-refundable if you are unable to attend.
An Educator’s Guide to MCADD
This new online and print guide is for teachers of students who have MCADD (medium chain acyl-CoA dehydrogenase deficiency). Developed by health care providers and researchers at Boston Children’s Hospital, the guide offers information about the condition, signs and symptoms of a health crisis, treatment and prevention, and a summary of the latest research. It includes a section on how teachers can help their students avoid problems, with tips provided by parents of children with MCADD.
We created this tasty and sizeable collection of recipes for adults, teens, and children with PKU (phenylketonuria). The recipes were developed as part of the PKU Resource Mothers program at Boston Children’s Hospital. Many of the recipes’ authors are women with PKU who managed healthy pregnancies! The recipe collection includes ideas for main and side dishes, breakfasts, snacks, and desserts. If you are the parent of a child or teen who has PKU, cooking together can empower them to better understand and take care of their own nutrition. Enjoy!
Maternal PKU & Pregnancy Guide is online!
If you are a woman with phenylketonuria (PKU), and are planning to get pregnant, or already are pregnant, we created this guide for you! Developed by metabolic and nutrition specialists at Boston Children’s Hospital, the guide includes sections on PKU, Maternal PKU, genetics, newborn health, PKU recipes, and PKU & pregnancy resources. Being pregnant with PKU is challenging, but with careful planning ahead of time, and with the right diet, health care, and information, you can experience the wonder and joy of carrying and delivering a healthy baby.
Annual Consortium Meeting – 2010
The 2010 Annual Meeting of the New England Consortium of Metabolic Programs took place on Nov 12, 2010, at the Tower Hill Botanic Garden in Boylston, MA. The theme of this year’s meeting was “Transplantation and Other Topics in Metabolism in New England”, and included brief reports from our regional professionals, a thoughtful discussion led by Dr. Matthew Fickie on the ethics of transplantation in metabolic disorders, and a presentation by Fran Rohr, MS, RD, of her trip to China this past year as part of an effort to improve PKU screening and formula availability there. Full details and photos of the meeting are here.
PKU Camp 2010 photos are up!
PKU Camp at Burgess & Hayward took place in August this summer. At the camp children with PKU joined campers with and without PKU for a totally integrated week of sleep-away, summer fun. Our main low-protein chef was Erica Stelten, RD, LD, CPCC, who was joined in the kitchen by our other nutrition experts. Photos from the week are now up!
Galactosemia: Educators’ Resources
We’ve just posted our newly developed guides for teachers with students who have galactosemia. Children with galactosemia may have difficulties with communication, comprehension of new concepts, and sensory-motor integration skills, and must follow a strict diet. These online and print guides feature information about teaching strategies, therapies, classroom environments, teaching technologies, and other resources. Teachers are welcome to download, print, and use them.
Transition Toolkit is Online!
The Boston Children’s Hospital Transition Toolkit was created for teenagers who are transitioning to adulthood, and who are ready to be in charge of managing thier metabolic condition and their health in general. The toolkit includes basic FAQs about various metabolic conditions, a health summary form for teens to fill out and keep in a safe place for future reference, and a transition plan for teens to discuss and fill out with their primary care provider and metabolic specialist.
Maternal PKU Research Study Launched this Month!
Women with PKU who have had one or more children are invited to participate in this important research study. The study is being conducted at Boston Children’s Hospital by Dr. Harvey Levy, Dr. Susan Waisbren, and nutritionist Fran Rohr. We are conducting the study to learn more about the medical, nutritional and psychological effects of PKU and maternal PKU. This is important because very little is known about how children born to mothers with PKU do in the long-term. We welcome your participation! Learn more about the study here.
For Parents of Babies with Metabolic Disorders
This set of guides, now available online, are for parents of babies that have recently tested positive for a metabolic disorder, including PKU, galactosemia, or other amino acid disorders, fatty acid disorders, or organic acid disorders. Each guide explains what a certain metabolic disorder is, why a baby has it, the symptoms and effects, and the treatment.
All About Teen Challenge
This month we’ve added a section with information about our Teen Challenge program, including lots of great photos from past events. Teen Challenge is an exciting, three-day, summer program designed especially for teenagers (ages 13-18 years) with PKU or other metabolic conditions. The program is offered through the Metabolism program at Boston Children’s Hospital, and is designed to help teens build a supportive social network, try new and challenging activities, build resiliency and self-confidence, and build skills for independent health managment.
PKU Toolkit is Revised and Up!
Our comprehensive PKU Tookit has been revised and updated, and is now online! The Toolkit is designed to be a personal guide for teens and young adults with PKU, and includes comprehensive information about nutrition, diet, treatment, and lifestyle issues. It also provides information, resources, checklists, and quizzes to help young adults better manage their PKU. Also included is information about new, more convenient and tasty options in PKU formula and low-protein foods. Reading this toolkit can also be useful for family, friends and significant others of adults with PKU.
Neurocognitive Functioning and Social Emotional Development in PKU
This month Dr. Susan Waisbren, our Consortium’s Director, attended the High Hopes Inaugural Conference in Dallas, Texas, hosted by the National PKU Alliance. Dr. Waisbren gave talks on Neurocognitive Functioning in PKU, and on Social Emotional Development in PKU. Slides from these presentations, and other by Consortium members, are now available online.
Order Forms for Printed Materials
The Consortium is now offering two of it’s comprehensive booklets for sale: Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI), and Newborn Screening Guide for Prenatal Educators, Plus Prenatal Curriculum and Parents’ Guide. Visit our order page for details, pricing, and an order form.
Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI)
This comprehensive five-part guide, produced at Boston Children’s Hospital, contains sections for teens and women who have galactosemia and POI, and for their family members. Available online and in print, the guide explains the symptoms and underlying causes in easy-to-understand terms, and outlines ways of getting the care and support you need. It also provides a list of resources, and a glossary of medical terms.
Video Library and YouTube Channel are up!
The New England Consortium of Metabolic Programs has a collection of historical and current videos illustrating vital concepts in metabolic research, screening, and treatment. They are available both here, on the Consortium website, as well as on our newly created YouTube channel!
Transition Resources are Now Available
Transitioning pediatric patients with special health care needs to adult health care can be a challenge for patients and their families, and for their health care providers as well. This section contains transition resources and information for health care professionals and for their patients.
Prenatal Education Resources are Up!
These resources were developed by our Consortium members for prenatal educators to use in teaching expectant parents about newborn screening for metabolic disorders. They include an 11-page Newborn Screening Guide for Prenatal Educators, a Newborn Screening Prenatal Curriculum outlining 10 teaching goals, a Newborn Screening Guide for Parents with easy-to-understand explanations of screening and metabolic disorders, and a Newborn Screening Report Card for parents of newborn babies.
Annual Consortium Meeting – 2009
The Annual Meeting of the New England Consortium of Metabolic Programs took place on Nov 6, 2009, at the Tower Hill Botanic Garden in Boylston, MA. The meeting’s agenda, summary, photos and Powerpoint slideshows are all available here. Additional information about the annual meeting, and about Consortium membership is also available.
Acute Illness Protocols are Online
These emergency protocols, authored by Dr. Harvey Levy, Senior Physician in Medicine/Genetics at Boston Children’s Hospital, are guidelines for the treament of newborns considered to be at risk for serious metabolic defects. These eighteen protocols address metabolic defects in the urea cycle, fatty acid oxidation, and organic acids.
Revised Website is Launched!
The New England Consortium of Metabolic Programs is pleased to announce the launch of it’s revised and updated website here at newenglandconsortium.org. On the new site you’ll find improved design, navigation, and web features, including an easy-to-use search box, A-to-Z index, and clearly organized categories of information for the professionals and families who use our site.