Articles & News
Educational resources for families plus the latest research, advocacy, and news from the Alliance.
Educational Resources
Plain-language guidance on living with and managing ARPKD/CHF.
Congenital Hepatic Fibrosis Overview (Retired GeneReviews Chapter)
A retired GeneReviews chapter on Congenital Hepatic Fibrosis (CHF), preserved for historical reference — clinical characteristics, diagnosis, genetics, and management.
Transitioning Pediatric Patients to Adult Health Care
Health Care Transition 2.0 Smooth transitions result in best outcomes, but they don't happen on their own. Providers must be intentional with the design and implementation of a tra…
One Minute Education
Platelet count is the best predictor of the severity of portal hypertension, which has early onset but is underdiagnosed in patients with ARPKD. Seventy percent of patients with AR…
Lessons Learned about Long-Term Outcomes of Patients with ARPKD/CHF
Dr. Gunay-Aygun's presentation "Lessons learned about long-term outcomes of patients with ARPKD/CHF," during the "Living with Polycystic Kidney Disease: Growing Awareness and Raisi…
MEDICAL INVOLVEMENT
By Ian Yeoh I have on occasion been criticized for being cynical about the medical profession, and often being critical of physicians and their professional conduct. I have several…
Oligohydramnios
by Ian Yeoh Oligohydramnios, or the lack of amniotic fluid, is a paramount issue that concerns the overwhelming majority of ARPKD babies. Oligohydramnios adversely affects fetal lu…
Quality of Life Research Results
A quality of life research survey was completed in May 2015 for adults living with this disease. The following poster resulted from the data. Quality of Life Survey Results
Hepatic Encephalopathy
By Merck Manuals. Hepatic encephalopathy (portosystemic encephalopathy, liver encephalopathy, or hepatic coma) is deterioration of brain function that occurs because toxic substanc…
Survival of childhood polycystic kidney disease following renal transplantation: The impact of advanced hepatobiliary disease
By Davis, I. D., Ho, M., Hupertz, V., and Avner, E. D. Childhood PKD encompasses the diagnoses of AR and ADPKD,glomerulocystic disease,and syndromes such as tuberous sclerosis or J…
Pregnancy in Autosomal Recessive Polycystic Kidney Disease
Four cases of pregnancy in ARPKD, to expand current knowledge and encourage further research. (Click page to enlarge text.)
NIH Rare Disease Curriculum for Middle School
For grades 6th, 7th, and 8th, students can explore how scientists use inquiry to research rare diseases and treatments and to further understand the workings of the human body. The…
Improving Transition from Pediatric to Adult Health Care
Got Transition aims to improve transition from pediatric to adult health care through the use of new and innovative strategies for health professionals and youth and families. 18 m…
A Guide to the Medicaid Appeals Process
By the Kaiser Family Foundation Medicare is usually appealed for two reasons: Ineligibility for coverage. Coverage denied for a specific service, or a service they were receiving w…
Pediatric BP Levels by Age and Height Percentile
Acceptable blood pressure values for age and gender. This was last u pdated January 2012 b y the International Pediatric Hypertension Association . BPLimitsChart2012
Polycystic Kidney Disease, Autosomal Recessive Synonyms: ARPKD; Polycystic Kidney Disease, Infantile; ARPKD/CHF
New! The most comprehensive information on arpkd/chf ever published! Summary Disease characteristics. Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of co…
Impact on Health and Wellness
IMPACT is a project of Family Voices, with the goal of promoting holistic, culturally relevant health and wellness information to families and children, including those with specia…
Insights from Parents about Caring for a Child with Birth Defects
Full article in PDF: Insights from Parents about Caring for a Child with Birth Defects
New Approaches in Treating Complicated Childhood Polycystic Kidney Disease
Medical College of Wisconsin For more information, contact: Office of Public Affairs Maureen Mack (mmack@mcw.edu) 8701 Watertown Plank Road Director of Media Relations Milwaukee, W…
How to Help Your Child View their Condition in a Positive Way
by Kathy Eby and Colleen Zak When you were told that your child had special needs, besides feeling shock, you were probably grief stricken and fearful. Then, as you searched the In…
What Can You Expect When Raising a Child with ARPKD/CHF?
When my OB/GYN told me that my unborn daughter’s kidneys were too echogenic, I didn’t have any idea what in the world she was talking about, let alone the impact it would have on o…
News & Advocacy
Research milestones, advocacy efforts, and community updates.
by Our Director of Development
When our daughter was born we had no idea she would eventually have to go through all she has. She spent a few days in the NICU, but it wasn’t till they did one more final exam tha…
Rare Disease Day 2019
Rare Disease Day is the official international awareness-raising campaign for rare diseases. Rare Disease Day takes place on the last day of February each year. The main objective …
2018 ARPKD/CHF Conference
2018 ARPKD.CHF Conference Flyer_FINAL PLEASE JOIN US! On Saturday November 3, 2018, the ARPKD/CHF Alliance and The Children's Hospital of Philadelphia's Division of Gastroenterolog…
ARPKD/CHF Conference, Saturday November 3, 2018
ARPKD/CHF Conference "Empowering the Patient" The ARPKD/CHF Alliance and The Children’s Hospital of Philadelphia’s Division of Gastroenterology, Hepatology and Nutrition will co-ho…
SAVE THE DATE: NOVEMBER 3, 2018, ARPKD/CHF CONFERENCE IN PHILADELPHIA, PA.
SAVE THE DATE: NOVEMBER 3, 2018, ARPKD/CHF CONFERENCE IN PHILADELPHIA, PA. On Saturday November 3, 2018, the ARPKD/CHF Alliance and The Children’s Hospital of Philadelphia’s Divisi…
Overview of Changes to the Essential Health Benefits Standards in NBPP 2019
Executive Summary The U.S. Department of Health and Human Services (HHS) is advancing a new rule intended to greatly weaken the Affordable Care Act's "Essential Health Benefits Sta…
5 Myths About Orphan Drugs and the Orphan Drug Act
The Orphan Drug Act (ODA) was signed into law in 1983 by President Ronald Reagan. This major piece of legislation was the first-of-its-kind for rare diseases and its success has he…
FIRST Clinical Drug Testing for ARPKD/CHF
Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease. by Sweeney WE, Frost P, Avner ED Renal cystic di…
Patient Centered Outcomes Research Institute Conference
ARPKD/CHF was represented at the annual PCORI conference on full scholarship. The theme was "Delivering Results, Informing Choices". Nearly 1,000 members of the healthcare communit…
Guidestar's Seal of Transparency
GuideStar is the world's largest source of information on nonprofit organizations. The ARPKD/CHF Alliance has earned a Bronze Seal of Transparency from them. Visit here for additio…
Advocating for ARPKD/CHF
As parents of children or adults living with this disease, you're certainly accustomed to advocating for the countless medical and support needs for your child or yourself. Nothing…
Patients and Patient Organizations Power Rare Disease Therapies Industry Trends
by Robin Robinson For most of the pharmaceutical industry, the focus on patient centricity is a relatively new phenomenon, and the industry continues to shift its focus to include …
"Lifetime Achievement Award" for Dr. Ellis Avner
Dr. Ellis Avner will be bestowed a "Lifetime Achievement Award" for his extensive work on childhood PKD research and understanding by the American Society of Pediatric Nephrology (…
Standhope Ultra Challenge
Standhope Ultra Challenge is a four day, 83 mile point-to-point stage race through the Smoky and Pioneer Mountains! This is not a beginner-level ultra. The race peaks out at 11,000…
A Friends and Family West Coast ARPKD/CHF Gathering
Saturday August 8, 2015 at 6 pm: Dinner at the Villa Restaurant The Villa Restaurant is lovely and cozy. Kids under twelve eat for free from the kid's menu. Dinner will be in a pri…
Platform for Engaging Everyone Responsibly (PEER)
Sharon F. Terry 1,3 , Matthew D. Smith 1,3,4 , and Robert Shelton 2,3 1. Genetic Alliance; 2. Private Access; 3. Community Engaged Network for All; 4. Joubert Syndrome and Related …
Platform for Engaging Everyone Responsibly Awardees Announced
Platform for Engaging Everyone Responsibly Awardees Announced Washington, DC (March 24, 2015) – Today Genetic Alliance announced the fifteen awardees for Phase I of its initiative …
March is National Kidney Month
March is designated National Kidney Month to raise awareness about the prevention and early detection of kidney disease. In 2011, kidney disease was the ninth leading cause of deat…
Announcement: Ellis D. Avner, M.D. Will Retire
Ellis D. Avner, M.D., Professor of Pediatrics and Physiology; Founding Associate Dean for Pediatric Research; Medical College of Wisconsin Attending Physician Pediatric Nephrology,…
Patient Gallery Updates
Patient Gallery Has been Updated See changes
For Your Next Event
In 2008, Jessie McKinney Goodall created a beautiful memorial quilt in loving memory of arpkd infants and children, which has been displayed at several events. Jessie's own daughte…
FDA awards grants to stimulate drug, device development for rare diseases
The U.S. Food and Drug Administration today announced it has awarded 15 grants totaling more than $19 million to boost the development of medical device, drug, and biological produ…
Open Access Week 2014: Maximizing the Potential of Billions
Events around the world celebrating the “knowledge in the commons” were in full swing this past week (October 20-26 2014), as academic and research institutions alike ushered in “G…
NIH funds research consortia to study more than 200 rare diseases
$29 million awarded to expand NCATS' collaborative Rare Diseases Clinical Research Network Print this pageShare on emailShare on facebookShare on twitter Physician scientists at 22…
ARPKD/CHF Alliance Represented at the Drug Information Association Meeting
2014 Patient Fellows and Trainers Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis were represented at the 50th Annual Drug Information Association (DI…
Want to Unlock the 21st Century Cure? Hearing Witnesses Agree, Patient Input is Key
By James E. Valentine* & Sara A. Khan** On July 11, 2014, the House Energy and Commerce’s Subcommittee on Health sought input regarding the incorporation of patient perspectives in…
Lack of Comparability Between CHIP and ACA Qualified Health Plans
by The National Alliance To Advance Adolescent Health If the Children’s Health Insurance Program (CHIP) is not reauthorized in 2015, low income children and adolescents will have t…
Stand Hope. August 9, 2014
August 9th, 2014 will be the second running of the Standhope 60 Kilometer Ultramarathon. Standhope is literally a breathtaking 37 mile journey through Idaho's 2nd highest mountain …
Archived ARPKD/CHF Newsletters 1996 to 2000
THE BEST NEWSLETTER ARTICLES FROM 1996 TO 2000 Newsletters-The Best from 1996 to 2000 This 75 page document is a combination of newsletters made available to families and professio…
Choose Tiles that Represent ARPKD/CHF
Pick Your Favorite Tile(s) and Chain(s); $6 per tile and $4 per chain, plus postage. Proceeds benefit the ARPKD/CHF Alliance. Send email order(s) to Rosie at Got2Gab@Gmail.com; she…
Thank you to the Pruzinsky Family for Supporting the ARPKD/CHF Alliance!
Many thanks go to the Pruzinsky family and their family and friends for organizing a golf event on behalf of the ARPKD/CHF Alliance. Golf Participants Caroline Caroline's brother, …
The National Alliance To Advance Adolescent Health Receives Federal Funding
TO IMPROVE TRANSITION FROM PEDIATRIC TO ADULT HEATLH CARE Washington, D.C. – There are approximately 18 million US adolescents ages 18 through 21, one quarter of whom have chronic …
60+ Patient Organizations Join NORD in Letter to Congress
WASHINGTON DC, July 25, 2013—–More than 60 rare disease patient organizations signed a letter delivered to key members of Congress today by the National Organization for Rare Disor…
ARPKD/CHF Represented at 2013 DIA Conference
Patient Advocate Fellowship Program and Patient Advocate Mentoring Program Leadership By Colleen Zak It was a privilege and honor to once again represent ARPKD/CHF at the Drug Info…
Support Us with igive.com
Do you shop online? We often hear families say they want to help, but what can they do? You can turn your online shopping and Internet searches into support for the ARPKD/CHF Allia…
Run For Hope
A 5k benefiting Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF). Where : Millersville University, 1 South George Street, Millersville, P…