Rare Kidney Disease Milestones Tool - Pediatric to Adult Care Transition

Alport Syndrome Foundation

A November 2023 article in the Clinical Journal of the American Society of Nephrology titled, “A Policy Call to Address Rare Kidney Disease Health Care Plans,” highlights many of the major challenges faced by our community: A Policy Call - Rare Kidney Disease. The authors note that, "Among CKD (chronic kidney disease), rare kidney diseases (affecting <1 in 2000 people) have up to now received insufficient attention, although an estimated 11.9% of adults and most children with kidney failure suffer from rare kidney diseases.”  

The authors recommend that "Policy makers should be made aware of the clinical, mental, and economic burden of rare kidney diseases and the benefits of targeted approaches. Awareness among physicians and patients can be improved through comprehensive guidelines and educational campaigns."

A 2017 article in Kidney International titled: Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease Improving Global Outcomes (KDIGO) Controversies Conference points to several important challenges including the specific problem that we are working to address:

A well-designed process of transition from pediatric to adult nephrology health care systems is crucial. Psychosocial support, management of potential extrarenal complications, and genetic and reproductive counseling are all potential areas of need for children maturing into adulthood. 

The age at which a patient makes the transition from pediatric to adult care varies between and within countries. For example, in Singapore, the age of transition is 12 years, whereas in the USA, patients in their 20s can still be in the transition process. Transitioning patients between the pediatric and adult centers should allow sufficient time to prepare patients and caregivers and include overlap between the care teams through the transition to minimize the risk of nonadherence to treatment that increases during adolescence and young adulthood. Transition readiness should also be assessed as low transition readiness predicts negative health outcomes.

As genetic testing becomes more readily accessible in many places in the world and nephrologists increasingly embracing it as a valuable diagnostic tool, along with expanded use in pre-natal screenings and family planning, patient organizations like Alport Syndrome Foundation are experiencing exponential growth in membership. Ours has grown to almost 9,000 free members, primarily patients and caregivers, with 85% from the U.S. and 15% from 101 different nations around the world.  Several other countries also have strong and growing patient organizations, not only for Alport syndrome but for other rare kidney diseases. After decades of Alport syndrome patients reporting initial misdiagnosis or no diagnosis more than 90% of the time, the tide is quickly shifting to patients being diagnosed before birth and/or in infancy or early childhood.  

No generally accepted tool exists to aid rare kidney disease patients, their caregivers, and their medical professionals to become educated and empowered to successfully transition from pediatric to adult care.  Most of these patients experience life-threatening renal failure in their teens or early 20s, just when they are becoming independent from their caregivers.  Education and a plan is key to more successful patient outcomes.

Our solution is a simple, standardized, and accepted tool that rare kidney disease pediatric patients, their caregivers, and their medical professionals can use across all clinical settings, from early diagnosis through end-stage-renal failure and kidney transplant, to progress in stages from “not ready” to “ready” to transition from pediatric to adult care.  Keeping in mind that not all patients have access to state-of-the-art technology, our solution is quite low-tech.  It is a standardized set of questions and simple measures that can be downloaded from a patient organization or clinic/hospital website, or used within an app or patient portal, and used by any care team of patient, caregiver, and clinician.  The innovation in this solution is that a patient organization, led by and dedicated to patients, has come up with a solution to an issue that medical professionals in nephrology have long noted as a persistent problem leading to poor outcomes, and that patients themselves are seeking to address. We have worked with patients, caregivers, and expert clinicians to develop this prototype. 

The solution we propose is a series of questions to be completed together as a team by the patient, caregiver and the treating clinician.  Each section moves the team along in a series of milestones. The end goal is the patient being fully educated about their rare kidney disease, and capable of successfully self-managing and making informed decisions about their care.

This tool moves the patient and their care team along through milestones related to basic disease education, medications, laboratory tests and values, general health and lifestyle, and self-management skills. Each section has a simple evaluation of “ready,” “getting ready,” and “ready” to transition to adult care. This helps the entire care team ensure that the patient understands all aspects of the condition they are living with and how to manage it in ways that work best for them.  Patients also learn the consequences of not managing or treating the disease. The process of going through the milestones as a care team builds-in important discussions and communication between patient and clinician, includes skill-building and knowledge, and empowers young patients to have some feeling of control over their own independence in living with a rare and life-threatening disease. 

Unless a patient has access to an academic center conducting research in first world countries, and many times not even then, individuals with rare kidney diseases such as Alport syndrome are treated by clinicians that have little knowledge or expertise about the condition.

As rare kidney disease patients and caregivers, we believe that young patients have the right to better understand their disease and options before having to face life on the bridge from a dialysis chair, putting their lives and dreams on hold indefinitely.  Far too many “crash” into dialysis, do not survive that bridge, or find the emotional and physical challenges of dialysis to result in long-term poor emotional health.  

Disease education gives patients and their families more knowledge and advance time to delay disease progression if possible, and to make decisions about and prepare for treatment options, including renal replacement therapy related to dialysis and kidney transplant.

A 2023 article in the Canadian Journal of Kidney Health and Disease titled “Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience, the authors note:

As children affected by kidney disease are fortunately living longer, the number of patients requiring transfer of care from pediatric to adult nephrologists is increasing. This transfer usually occurs at or shortly after the age of 18 years. There are major structural differences between child and adult-centered health systems, and attention to these young adult patients may decrease as they become a small proportion of the total patients treated in the adult setting. As a result, these young adults must take on increasing responsibility to manage their own health problems. Often, these patients are inadequately prepared for this transition, putting them at risk for treatment nonadherence, loss to follow-up, and poor health outcomes. Barriers to successful transition to adult care include impaired socioemotional functioning, overreliance on adult caregivers, lack of disease-specific knowledge, and poor coordination between pediatric and adult health care services. Even simple things such as change of clinic location have been shown to be a barrier to successful transition.  Adolescence is a time of increasing independence and experimentation. Risk-taking behavior may lead to nonadherence with medications and reduced engagement with health care providers… It is unreasonable to believe that a 17-year-old individual with chronic kidney disease who required extensive medical, educational, and psychosocial supports in the pediatric clinic no longer needs these on the day of their 18th birthday. To evaluate the success of transition, it has also been proposed that transitioning adolescents should be monitored into their mid-20s with various health care transition tools.

Though we applaud single center pilot programs, none yet have become standardized and often require additional staff and pay that are not realistic for most settings. Most also are shaped without patient input in developing a solution. 

Our solution is free to access; standardizes care; includes patient, caregiver, and clinician input; does not require more personnel or outside expertise; is adaptable for various kidney diseases, and can be translated into other languages.

In 2021, Alport Syndrome Foundation staff, guided by nationally-respected pediatric nephrologist Dr. Bradley Warady, spent eighteen months delving into surveys, individual virtual interviews, and group virtual discussions with a group of 25 Alport syndrome patients ages 13 – 22 primarily in the U.S. and one each from China and the U.K. Our goal was to report on insights collected from these patients to help their caregivers and treating physicians better understand their lived experiences, and to help other young patients understand that they are not alone in what they are experiencing. The process of the project and final report are documented here: Pediatric Alport Patient Insight Campaign.

Several themes emerged from these efforts including the need for improved communication between pediatric nephrologists and their patients about disease education and management, and for an improved process of transitioning from pediatric to adult care in nephrology. Though the group providing input was small, we hear their experiences repeated by the majority of young patients that have joined and participate in Alport Syndrome Foundation’s annual in-person meetings and/or reach out to us through email or phone. As Alport syndrome patients and caregivers ourselves, the results of the report resonate as true to our own lived experience. 

From there, we invited this group, along with our Emerging Leadership Council of volunteers, to join us in helping shape a tool that could be used by Alport syndrome patients like themselves and their families and physicians to improve the critical transition from pediatric to adult care while also addressing the need for improved communication between patients and providers.

We began by reviewing currently available tools used by different nephrology centers to address this transition.  All of them were focused on general chronic kidney disease, which did not address the unique experiences of Alport syndrome patients. With permission, we chose to borrow the simplicity of measurement of “ready, not ready, or ready” to transition to adult care applied in the tool that Dr. Warady’s center uses at Mercy Children’s Hospital in Kansas City, Missouri.  We then began shaping relevant questions related specifically to the Alport syndrome lived experience.  In the process of our research, we came across a podcast interview with young and upcoming pediatric nephrologist, Dr. AC Gomez.  Dr. Gomez studied at Harvard Medical School and currently serves in a new role at Brigham and Women’s Hospital in Boston as the liaison between pediatric and adult nephrology care.  She gratefully accepted our invitation to join us in developing this new tool.  

Due to the pandemic, Alport Syndrome Foundation did not resume its national in-person patient meetings until 2023, holding virtual meetings 2020 – 2022. Dr. Gomez joined us for our October 7 & 8 Alport Connect 2023 patient meeting in San Diego, California.  Working alongside young adult patient volunteers, she facilitated discussion and input on the phrasing and questions in the tool to date from an additional 25 pediatric patients attending the event.

In January 2024, Alport Syndrome Foundation’s Executive Director, Lisa Bonebrake, who is also an Alport syndrome patient and parent of a young-adult post-kidney transplant recipient, began a three-year term serving on the Patient and Family Partnership Council of the American Society of Nephrology’s Kidney Health Initiative.  In reviewing priorities for 2024 & 2025, the Council identified goals to address the high unmet need in pediatric chronic kidney disease, including the need for improved and standardized tools for transition to adult nephrology care.  Alport Syndrome Foundation’s work to date on developing the milestones tool in Alport syndrome was reviewed and is being considered as a template model to be used and adapted for rare kidney diseases. There is no funding available for the project, but this group has far-reaching members of clinicians and patient groups with whom to collaborate. 

Alport Syndrome Foundation has received excellent input from our patient and clinician volunteers. We feel confident in the next steps to testing and rolling out use of this new tool.

Our solution to address the transition of pediatric to adult care in rare kidney disease approaches the problem in new and significantly improved ways by:

1)    Focusing the tool on the needs of specific rare disease communities that have different needs from the general population of general chronic kidney disease (primarily driven by diabetes and hypertension).

2)    Designing a tool that was shaped with input from patients and caregivers from the beginning of the process and throughout its development.

3)    Addressing the issue without the need for clinics and treating physicians to hire additional staff or outside expertise.

4)    Making the tool available and easily acceptable for either patients to introduce to their physicians or physicians to introduce to their patients.

5)    Encouraging the standardization of this tool across treating physicians and treatment settings.

This milestones tool for pediatric Alport syndrome patients has the potential to be a catalyst for change and broader impact in the nephrology space by:

1)    Educating patients, caregivers, and nephrologists together as a team about our rare kidney disease.

2)    Facilitating valuable discussions that our research shows often does not occur in the clinical environment.

3)    Helping empower young patients with education and skill-building to best manage and make informed decisions about their care pre-and-post end-stage-renal disease.

4)    Shaping a tool that can easily be translated into other languages for Alport syndrome communities around the world.

5)    Shaping a tool that can easily be adapted by other rare kidney disease communities.

This could change the landscape by helping better educate patients and clinicians about Alport syndrome and other rare kidney diseases immediately without the need for other interventions, continuing education coursework/certifications, research, or investment in additional staff.  It has the potential to build better relationships and communication between pediatric patients and their physicians.  Ultimately it can lead to more patients in a position to plan and prepare for preemptive kidney transplants rather than requiring expensive and sub-optimal care through living on dialysis. 

As documented in Tom Mueller’s 2023 book, How to Make a Killing: blood, death, and dollars in American Medicine, due to the payment reimbursement model that has created a multi-billion dollar dialysis industry in the U.S., there is diminished incentive to get patients off dialysis care. Moreover, the average wait time for a deceased donor kidney in many parts of the U.S. is six years.  For many rare genetic kidney diseases, due to the inherited patterns of the disease, the most likely family members are not qualified to become living kidney donors for their loved ones in need.

As a rare disease organization with 4 full-time employees and 1 part-time employee serving 9,000 members and working to provide free support and education for patients and families while also investing in research, translational research tools for industry, and working with drug developers to advance clinical trials in Alport syndrome, we do not have the funds to advance or expand this important project on our own without additional resources. 

The financial resources would make it possible for Alport Syndrome Foundation’s staff to advance the project in specific ways:

·      Bring together patients, caregivers, and expert clinicians to finalize the draft and develop instructions for its use in clinical settings.

·      Travel to and share the tool with other international Alport communities at the 2025 International Workshop on Alport Syndrome in Bejing, China, and another Alport Syndrome Workshop in Singapore.  We have already been invited to attend these meetings but do not have the resources to travel and attend. We have high level physician and researcher contacts in these countries that can help us address potential needs to adapt the tool related to language and cultural differences. 

·      Make use of professional graphic design to improve aesthetics and functionality.

·      Test its use in online patient portal platforms used by our Medical Advisory Committee members.

·      Test its use in clinical settings with our Medical Advisory Committee members that treats thousands of Alport patients across the country.

·      Professionally translate the tool into several additional languages and test its use in the U.S.

·      Develop national and international awareness campaigns about the availability of the tool and its benefits for the patient community.

·      Develop national and international awareness campaigns about the availability of the tool and its benefits for the nephrology community.

·      Design and implement a study to track and evaluate the efficacy of the tool and publish the results.

·      Track downloading of the tool from our website.

·      Partner with other related organizations through speaking at their events, making the tool available on their websites, and sharing our process for shaping the tool for our rare kidney disease community.

Alport Syndrome Foundation is led by and dedicated to the community of Alport syndrome patients and families. It was founded in 2007 by a family that remains active in the organization. All its staff and board are Alport patients and/or caregivers.  We have an engaged community demonstrated by our ability to fill clinical trial cohorts, sell out our 200+ in-person annual patient meeting within 48 hours, and filling a 3-year, 72-person natural history study cohort within a year. 

The Team Leader for this project is Lisa Bonebrake, Executive Director of Alport Syndrome Foundation since 2019. She is an Alport syndrome patient and parent. The initial project she led toward developing a standardized tool for successfully transitioning Alport patients from pediatric to adult nephrology began in late 2020 and early 2021, with the organization’s Pediatric Alport Patient Insight Campaign. At that time, her teen son with Alport syndrome was in stable health and participating in the first ever clinical trial in this rare kidney disease.  A few months after the project report was finalized, which highlighted need for better commination between young patients and their doctors and for improved transition to adult care, her 19-year-old son declined quickly into end-stage-renal failure. He required dialysis and transplant to survive. The news came just a week after he had moved two states away to begin his freshman year of college. His goal was to at least complete one semester of college before having to begin dialysis. 

Suddenly, after years of seeing a pediatric nephrologist, he needed an adult nephrologist and a transplant team in a new city and state to guide him through the process while suffering from common effects of renal failure including brain fog, extreme fatigue, no ability to keep his body warm, nausea, nose bleeds, muscle cramps, no signs of hunger from his body, significant weight loss, painful headaches, and more. While this was occurring, through Alport Syndrome Foundation’s 6,000+ private Facebook Support group for patients, Lisa connected with ten other families in the U.S. that were experiencing the same set of circumstances, and hundreds of others that had already lived through similar situations.  Together, they shared and compared their experiences, which myriad medications were being prescribed, and emotionally supported one another through this process filled with medical trauma and uncertainty. The average age of renal failure in Alport syndrome is 19.

Even with disease education, Lisa and her family, and others like hers, found that lack of a plan to transition to adult care had put them in a vulnerable position, unprepared to make challenging decisions, and not enough time to prepare for options outside of in-center hemodialysis.  Her son spent three days a week/four hours a day, doing in-center hemodialysis with all his fellow patients being on average three times older than himself, and watching some of those patients die at the center.

In the answers from questions above, we have outlined how our patient and clinician community was involved in shaping this project agenda and solution.

Impact goals:

·      Improve the quality of disease education in Alport syndrome (and eventually other rare kidney disease communities) through the use of a tool designed for use in clinical settings with patients, caregivers, and nephrologists. Initial progress will be measured through surveys completed by patients and clinicians making use of the tool, and by tracking the number of downloads of the tool from sites where it is accessible and in Alport Syndrome Foundation’s mobile app.

·      Improve rates of successful transition from pediatric to adult care in Alport syndrome (and eventually other rare disease communities). Initial progress will be measured through surveys and video interviews completed by patients and clinicians making use of the tool in the U.S., including patient-reported outcomes related to informed decision making about care.

·      Use and promotion of the tool by key thought leaders and relevant organizations such as the American Society of Nephrology, the American Pediatric Society of Nephrology, the International Pediatric Nephrology Association, and Alport syndrome patient organizations outside the U.S.  This will be measured by promotion and awareness on these organizations’ messaging, websites, social media, and presentations.

·      Improve rates of preemptive transplant (bypassing need for dialysis) at centers that use the tool.  We plan to partner with up to five centers that will use the tool with all of their Alport patients and track rates of preemptive transplant versus time period without use of the tool. 

Three of the four full-time staff members of Alport Syndrome Foundation have participated to date in the development of this project. Three clinician volunteers have worked on the project with Alport Syndrome Foundation including two pediatric nephrologists with expertise in Alport syndrome and one adult kidney transplant nephrologist.  Fifty pediatric patient volunteers living with Alport syndrome have participated to date in helping shape and provide feedback related to this project. Thirty parent/caregiver volunteers have also provided feedback on the project. 

Our organization has been working on this specific project for one year, since Summer 2023. However, this solution is an outgrowth from the results of project we organized in 2021 with pediatric and young adult patients living with Alport syndrome. 

Alport Syndrome Foundation has close to 9,000 free members, representing every state in the U.S. and 101 different countries. This reflects our understanding that there is no population or ethnicity that is not affected by our rare genetic kidney disease. 

Our staff is small, but tight knit, with no turnover since 2019. All staff are patients and/or caregivers, giving us a special bond though we live and work remotely from San Diego, New York, Alabama, Connecticut, and Boston.  Our staff is half female, half male, and ranges in age from 24 – 58 years old.  Our entire staff is involved in directly connecting with our patient community through moderating our Facebook Support Group, through developing our monthly e-news messages, participating in our virtual monthly meetings with patients, and email and phone messages from our members.  Three of our five staff members are also frequently in touch with and have direct business relationships with members of our Medical Advisory Committee of expert clinicians related to educational projects and programs designed for patients and family members.

Our plan is to work clinicians and centers across the country that treat Alport syndrome patients, from cities to rural areas.  We currently have excellent relationships with hundreds of nephrologists that have subscribed for free membership with Alport Syndrome Foundation, and active relationships with 26 sites across the country involved in a natural history study that we are funding.  We plan to make use of our patient ambassador volunteers that come from every walk of life to help spread awareness of the use of our solution. 

Our business model includes patient-to-patient education, support, and empowerment through free membership to our organization.  All of our projects, programs, educational resources, and events are provided at no charge for patients and families, researchers, and clinicians.  We only hire Alport syndrome patients so that any patient or care partner that reaches out to us is directly connected to another patient. Our board members and staff are all patients with diverse experiences and in varying degrees of disease progression from pre-to-post kidney transplant, one with the experience of two kidney transplants over time. 

This is summed up in a 2023 article in the Journal of Glomerular Diseases by Executive Director Lisa Bonebrake: 

I found there is true power in educating yourself about your kidney disease and/or your child’s disease, particularly with rare conditions. After our accurate diagnosis in 2014, education and community made a significant difference in our lives. With Alport syndrome, there is a great deal of new content to comprehend: medications, side effects, laboratory values, genetic variants, disease- specific terms, potential complications, recommended tests, myriad specialists, hearing devices, and anxiety about all of them.

The importance of understanding that you are not alone may sound cliché, but when it is happening to you and your family, and feelings of isolation and fear are all- consuming, the voice of someone else that speaks your new language is the most comforting sound in the world. Strangers or not, you are immediately kin. I have often been on the phone with other patients or caregivers who are emotional because it is the first time they have spoken to someone else that shares our rare disease.

https://karger.com/gdz/article...

Alport Syndrome Foundation's website auto translates into more than 30 languages so that we can be a resource for countries that do not have an Alport syndrome patient organization.

We stay in touch with our membership through a monthly e-news, a closed Facebook Support Group and other social media, a YouTube channel that receives hundreds of thousands of views annually, virtual patient listening sessions, a volunteer program, and monthly virtual meetings that all members can join.

We invest in research guided by a volunteer Scientific Advisory Research Network made up of the world’s leading researchers in our disease. We facilitate their work as an informal consortium working collaboratively under the umbrella of Alport Syndrome Foundation. 

With a strong and engaged patient population, we are the leading patient voice of the Alport syndrome community in the U.S., working directly with the FDA, NIH, researchers, and industry to include the patient perspective in drug and device development related to Alport syndrome.

We collaborate with other rare disease and kidney patient organizations to share best practice, advocate as necessary for national policies that affect patients, and support patient education.

Alport Syndrome Foundation is a 501 c 3 organization that relies upon individual contributions by the community of patients, family members and friends primarily in the United States, as well as grants from public and private foundations, and industry sponsorships that fund our annual in-person patient meeting. In the past six years, we have increased our annual income by more than 300%.  Our largest contributions to date have been restricted for research-related activities. 

Since its establishment in 2007, Alport Syndrome Foundation has never let its expenses exceed its income. A board finance committee meets monthly to analyze and review income and expenses.  A budgeting process led by the board and staff each year builds projected budgets for the following two years. The organization engages with a professional audit annually. Two members of our board are finance professionals and we benefit from a pro-bono legal team with significant expertise in non-profit management.

As a patient organization, we do not sell memberships, products or services. It is important to our business model that all of our services and programs remain free of charge for patients and families.

Our patient community and industry partners continue to increase their financial contributions collectively to support our mission and efforts.

In the past six years we have increased our engagement with pharmaceutical and biotech companies from two to more than 30 companies with which we have NDAs, and currently ten corporate partnerships.