Transition from pediatric to adult care poses a balancing act for nephrologists
Click Here to Manage Email Alerts
As a nephrologist at Montefiore Medical Center/Albert Einstein School of Medicine, I have seen several young patients with rare diseases come into my clinic.
One of those diseases is cystinosis, a complex disease diagnosed in childhood that affects multiple organs in a progressive manner.
These young adults are at a pivotal stage in their development and are learning to transition from childhood, when their parents or caregivers manage their treatment, to adulthood when they navigate their own treatment decisions.
The adult clinical delivery world is different from the pediatric world. Busy clinics that are siloed and frequently stretched to capacity are organized in a way that allows for less than sufficient interaction with a physician during an office visit. Further, care coordination is often dependent on effective communication between physicians through the electronic health record, and the quality of communication with patient and family can end up deprioritized. For these reasons and others, once children with rare genetic diseases become adults, a safe transition plan between pediatric and adult physicians becomes essential.
Transitional care
I have been fortunate enough to benefit from the expertise of Montefiore’s pediatric nephrologists as they transition some of these patients to me. Each individual patient has his or her unique journey and has enriched my knowledge and expertise.
It is clear that a smooth transition from pediatric to adult nephrologist is critical for the patient’s ability to trust the new provider, given the crucial role that providers play to ensure adherence, multidisciplinary expertise and continued care. Above all, a physician’s ability to provide consistent communication, recognize his/her knowledge gaps with regard to standards of care and the humility to work hard to bridge those gaps, are very important to the patient’s well-being.
These are four transition steps taken at Montefiore that have been successful in easing the transition and that can be applied to all rare diseases, including cystinosis:
- the provision of office records from pediatric to adult nephrologist;
- transfer of excellent review articles about the standards of care and publications on the latest guidelines;
- a personalized message from pediatric to adult provider about the patient and his/her experiences in navigating their disease and their hopes for the future; and
- the offer to always be available to the adult provider should questions or issues arise.
Care for cystinosis
Cystinosis is a rare disease estimated to affect one in 100,000 to 200,000 people in the world1 and is typically diagnosed in childhood. It results from an amino acid, called cystine, that gets trapped inside the cells, leading to build-up and formation of harmful crystals.
These crystals cause damage to every cell and organ in the body, with the first signs usually seen in the kidneys and eyes. As a progressive disease, the damage caused by these cystine crystals results in a lifetime of debilitating organ dysfunction.
Standard treatment for cystinosis requires a team of specialists, including pediatricians, nephrologists, ophthalmologists, gastroenterologists and other health care professionals to ensure a comprehensive treatment plan for the child upon diagnosis. The team will help determine the specific treatment to target symptoms specific to the individual. Cystine-depleting therapeutics are the most common form of treatment as these lower cystine levels within the cells, which in turn slows the development and progression of damage to the kidney and promotes regular milestone development for the child.
While cystine-depleting therapeutics should be used as soon as a diagnosis is made, and continued throughout a patient’s life, kidney transplants are often needed at some point, depending on the damage to the organ at a cellular level.2,3 Further, it is unclear if any of the damage affecting organs other than the kidneys (such as the muscles eyes, or neurologic system) is reversible with current therapy options.
Parental involvement
Historically, cystinosis was viewed as a pediatric disease because it was diagnosed in infancy or early childhood, and life expectancy rarely extended past adolescence. Since the introduction of kidney transplants in the 1950s, and the availability of cystine-depleting medical therapy in the mid-1990s, this previously terminal disease was transformed into a treatable disorder with life expectancy now extending 50 years and beyond.
In modern times, cystinosis is still usually diagnosed within the first few years of a child’s life, which means that parents take on the role of coordinating care for their child, like setting up necessary appointments with the child’s care team and assisting with preparing their daily medication regimen.
But because of longer life-expectancy, longitudinal plans for care coordination, therapy adherence and ongoing monitoring for cystinosis, patients must be prepared for the transition as they approach adulthood.
Families and caregivers must remain current with the latest treatment recommendations for cystinosis while dealing with the many challenging manifestations of the disease, such as malnutrition, kidney failure and growth retardation. Additionally, caregivers have to strike the right balance of ensuring adherence while allowing their patients to gain some independence as they become adults.
In the time I have spent with this patient population, the support networks between child and parent and medical care team are inspiring. As a team, the diagnosis, create a treatment plan, and track progress daily. It has been my experience that by the time they come to see me, adult cystinosis patients are educated about their disease and are effective self-advocates; what they need are adult physicians who are engaged, accountable and willing to learn about their disease.
For these reasons, I always encourage health care providers to facilitate dialogue with cystinosis patients early to ensure these patients are equipped to manage their own care and understand the long-term consequences of lapses in treatment with a supervisory role played by their providers.
In my experience, the cystinosis patients’ advocacy and knowledge have pushed me to educate myself in order to provide the best care possible.
Long-term care
While the shifts we have seen in cystinosis treatment outcomes are encouraging, we have not seen the same level of progress in the knowledge of the adult nephrology community. In the past, patients only worked with a pediatric nephrologist, who provided care for the duration of their lives and coordinated long-term care with adult specialists (including transplant nephrologists). Now, adult nephrologists have an opportunity to self-educate in the ongoing care for patients with cystinosis as they transition to adulthood.
While I cannot stress enough how important it is for patients to be their own health advocates, there is still a critical need for health care providers to recognize the symptoms of cystinosis to ensure ongoing excellence in long-term care.
This can be difficult in light of the rarity of the disease, the variability in the symptoms it presents and the lack of adult nephrologists in the specialty (most specialize in pediatrics). Creating a safe space for an open dialogue between patient and adult doctor is essential. Further, adult nephrologists should feel comfortable reaching out to experts in the specialty, organizations tasked with providing advocacy and education, fellow nephrologists, and patients and their support networks for help in best management strategies.
Once given the tools to succeed, long-term care for cystinosis is manageable and rewarding. I have personally seen many cases in which these patients effectively transition from needing constant assistance from their adult providers to becoming their own health advocates, capable of making decisions that enable them to feel confident and in control of their future.
- References:
- Cystinosis. https://rarediseases.org/rare-diseases/cystinosis/. Published in 2020. Accessed on October 25, 2021.
- Cystinosis. https://rarediseases.org/rare-diseases/cystinosis/. Published in 2020. Accessed on October 25, 2021.
- Nephropathic Cystinosis. www.kidney.org/atoz/content/nephropathic-cystinosis. Published in 2021. Accessed on October 25, 2021.
- For more information:
- Ladan Golestaneh, MD, MS, is a professor of medicine at Albert Einstein College of Medicine, Bronx, New York. She can be reached at lgolesta@montefiore.org.
Collapse
Read more about
Click Here to Manage Email Alerts