Complexities in transitioning a child with a rare disorder

Abstract

This article provides insights and perspectives on navigating the challenging waters in moving a child from pediatric to adult medical service providers. It utilizes a maturation framework to categorize the various challenges a parent or caregiver will have to be cognizant of and learn to manage. Factors such as when is it the ‘right time’ to move a child from pediatric to adult services to what administrative requirements/preparations are required to successfully complete a transition must be considered. Most importantly, the need to identify a medical services professional/team that has familiarity and proficiency with the rare disorder, and is comfortable in providing the required medical services is highlighted. Responsibilities of the patient and key medical service providers are included. A high level case study of the author’s personal journey in assisting his son through this journey is also discussed.

Keywords:

• Cystinosis
• electronic medical record
• rare disorder
• transitioning

Surgeon General C. Evertt Koop first introduced the notion of medical ‘transitioning’ in the late 1980s when he observed that many of the children with rare conditions he operated on were surviving and living into adolescence and adulthood [1]. According to a 2002 consensus statement the definition of healthcare transitioning from pediatric to adult care: “maximized lifelong functioning and potential through the provision of high-quality, developmentally appropriate healthcare series that continue uninterrupted as the individual moves from adolescence to adulthood” [2]. The extended life expectancy is cause for celebration; but there are formidable challenges as the abundance and accommodating nature of the pediatric medical services quickly come to an end once an individual transition from pediatric to adult care medical service providers.

Parents and caretakers work ever so diligently to prepare children to develop the life skills they will need to manage their lives, especially as it relates to their healthcare. Thus, giving up control and oversight of the child’s world does not come easy. It is a necessity one must master as the consequences of not doing so are stark and compromises the very thing one is trying to achieve: preparing one’s son or daughter to be independent and self-sufficient. This assumes that the child has the potential to ultimately be able to look after themselves. If a child cannot achieve this level of independence/responsibility, there will be additional burdens that require third parties to play more significant roles in oversight and execution of the transition process. Achieving independence and self-sufficiency is difficult enough to achieve under normal circumstances but what if your child is afflicted with a chronic, rare disorder? Does this nuance give the parent or caregiver the right to attempt to maintain control a little longer? As a parent of a child with a very rare disorder, I would like to say yes but I know the right answer is no. No, in fact, the need to prepare your child to be independent and self-sufficient, within their capabilities, is of even greater importance. My objective in writing this article is to bring attention and raise awareness to some of the major challenges one faces transitioning healthcare from the pediatric to the adult world for a child with a rare disorder. In my particular case, my son is afflicted with Cystinosis. Cystinosis is an inherited rare lysosomal storage disorder that primarily affects children. It is a genetic metabolic disease that causes an amino acid, cystine, to accumulate, crystallize in all of the cells of the body. Without specific treatment, individuals with cystinosis have a shorten life span and experience an innumerable number of symptoms; for example, renal tubular Fanconi’s syndrome, failure to thrive, end-stage kidney failure, photophobia, acidosis, muscle hypotonia, rickets, polyuria, polydipsia, cellular and tissue dysfunction, and so on.

It is quite a dilemma for a parent to determine when is the right time to ‘let them go’. In addition to the factor of age, it is important for the parent or caregiver to recognize that the needs of the patient may exceed the medical capabilities/experience of the pediatric medical service provider. Many times individuals develop more complications/conditions as they become older and thereby require the services of an adult medical service provider.

There is no universally accepted period when individuals are mandated to be transitioned. It is not something normally under a parent’s jurisdiction and is typically left to the discretion of the attending physician or the medical center to determine via policy. Research indicates transition normally takes place between 18 and 30 years of age.

This is “the period following the onset of puberty during which a young person develops from a child/adolescent into an adult.” The specific time when an individual has the capacity to function as an adult can be debated but for our purposes this will suffice. The period of adolescence is characterized by growth and development of individuality and independence. Other characteristics of this period are risk-taking, emotional instability and a lack of understanding of consequences. These characteristics are complicated enough for an individual with ‘normal’ health but even more complex to manage when a chronic condition is involved.

One of the most serious implications for this age group is compliance as risk-taking manifests itself in the form of non-adherence with medical advice or treatment plan, medication protocols, missed appointments and a decrease in the commitment to established protocols.

In order to mitigate the probability of having a catastrophic outcome, parents should begin to prepare their children at an early age by developing a collaborative medication plan, with active engagement and participation in making decisions for themselves.

Whereas the need for collaboration is obvious between the parent and child, what is not so obvious is the cooperation needed between the pediatric and adult medical service providers/entity. The importance of the latter cannot be overemphasized, especially in the case of an individual with a chronic disorder. “Explicitly planned care as the product of a partnership among healthcare professionals, youth, and families has become ever so more critical. High-quality transition care and support will invariably become a standard for the medical profession.”

Your pediatric medical service team’s importance in developing, executing and guiding an appropriate transition plan cannot be overemphasized. In addition to the intimate knowledge of the medical needs of your child, your pediatric medical service team will also have informed opinions on your child’s emotional and management capabilities. Their counsel will invariably enable you to make informed decisions regarding the specific elements of the transition plan.

Ensuring the adult service provider has a full understanding of the disease, medications, extenuating conditions, and so on is paramount. Your pediatric medical service team will be providing all of your child’s critical record and notes to assist the receiving provider. Invariably, parents should remain vigilant and engaged, as appropriate, as advocates until the relationship with the adult medical service providers or entity is clearly established. My own personal experience is that the pediatric medical service team will make themselves available to answer clarifying questions and provide counsel as required.

Transition requires a significant amount of organization and planning by the major players: patient, pediatric, and adult medical service providers/entity. The decision to transition should not only be based on the chronological age of the individual but also a function of their emotional maturity and capabilities to assume the responsibilities for their medical care.

Key patient responsibilities:

1. Self advocacy – competence to analyze situations and take a firm stand on his behalf

2. Problem solving – proficiency in identifying contributing behavior factors which promote noncompliance

3. Communication – capability to accurately discuss/describe medical condition and emerging issues

4. Self-management – ability to manage medical routines, medical history knowledge, medicinal protocol

5. Life skills – adept at ordering prescriptions, reconciling health insurance claims/finances and so on.

Key pediatric and adult medical service providers responsibilities:

1. Transition lead – identification of individual that will be responsible for the creation and execution of transition plan

2. Adult medical provider – provide guidance and assistance in the identification of a qualified medical provider

3. Medical summary – creation of comprehensive medical summary document highlighting key elements of the patient’s medical history and needs

4. Emergency plan – assist in the creation of an emergency plan to be used in the event of a medical emergency during the transition period

5. Legal aspects – review legal implications during the transition for all of the parties

6. Insurance – discuss insurance actions required to be taken when transitioning between medical service providers

Proficiency with these responsibilities will not always coincide and, as such, the transition must be a function of the individual‘s developmental stage and capabilities. Greater involvement and/or a longer transition period may be needed. This is particularly true for individuals with renal transplants or additional medical and non-medical complicating factors. Families should be proactive in taking full advantage of all support services available to minimize the possibility of experiencing problems at a later point; for example, social worker organization, young adult clinics/support groups and so on. An emerging enabler of late is the use of technology via social media, smartphone applications and Facebook to enhance communications.

Greater use of technology will invariably provide greater efficiencies and enabling capabilities to ensure transitioning is done properly. That said, the importance of communications and collaboration between all of the principals cannot be overstated. An excellent illustration of where technology can have an immediate impact is the use of an electronic medical record (EMR). The use of EMRs enables physician practices and medical centers to perform more timely and insightful analyses in comparison to paper-based record systems. It also introduces significant advantages in sharing or transferring medical records within physicians and medical centers. Unfortunately, a number of barriers need to be overcome before widespread acceptance and adoption are achieved. One of the more formidable challenges is that of adoption by physicians. “Information technology is increasingly recognized as an important tool for improving patient safety and quality of care, especially by promoting the practice of evidence-based medicine [3]. The EMR’s potential broad applications make it one of the highest impactful information technology capabilities available; for example, medical history review, prescription/test ordering, care management, messaging, etc.”

Net, net the transfer of care does not happen when you go to your new appointment. It is the result of a well-conceived plan, executed over an extended period of time, involving a myriad of key participants.

It is my belief that the major fear associated with transitioning is not change itself but the endless unknown possibilities. A well conceived plan goes a long way toward providing greater clarity as to the possibilities and thereby making it more manageable.

It is important to recognize the before mentioned comments are based on my experiences with the healthcare system in the US, more specifically in the states of Connecticut, New York, Virginia and Texas, whereas there are similarities to be found, each state’s healthcare system has difference and nuances that have to be contended with. The differences will be even greater when one is faced with contending with different countries, cross-cultural norms, different forms of government and so on.

1. A personal case study

My son has a rare disorder, cystinosis. Cystinosis is a rare autosomal-recessive metabolic disorder, with an occurrence of one for every 100,000 – 200,000 births. There are approximately 400 – 500 cystinosis patients in the US. Major characteristics of the disorder are:

• Fanconi Syndrome

• Failure To Thrive

• Renal Failure

• Impaired Vision

• Myriad of other individual specific health challenges

Before the discovery of a cystine depleting treatment, individuals with cystinosis would reach end-stage renal failure at age 10 [4,5], require kidney transplantation and had a life expectancy projected into adolescence.

Misdiagnosed until the age of 5, my son lost his native kidneys at the age of ten. Unfortunately, his transplanted kidney was compromised and he required a second transplant at the age of 16. His journey, though unique in many aspects, is representative of his peers. An endless array of appointments with physicians scheduled on a monthly basis: nephrologist, endocrinologist, ophthalmologist, urologist, etc. All of these appointments typically require a series of lab work to be performed and, until we became more aware and proficient in coordinating the appointments, were very invasive. It was a ritual of monthly appointments required to ensure his health is not compromised.

High school graduation and acceptance to a college on the West Coast required a change in nephrologist. His pediatric nephrologist recommended a colleague at a world-class medical center. An introductory appointment was scheduled and the process took flight.

Despite all of the efforts to enable the transition, there were multiple challenges experienced. The medical center nephrology department operating procedures were more vertically oriented and therefore interdepartmental coordination required more attention. Illustrative challenges experienced:

1. Medical records transfer – timely transfer and uploading of records

2. Script transfer – accurate and updating of prescription refills

3. Medical services – access and availably of attending/ primary physician

4. Lab work – specialized blood draws not available at medical center

Regardless of the challenges, the commitment exhibited by the medical professionals was never in question. All challenges are manageable given appropriate vigilance, follow-up/ follow-through by the young adult and, when requested, the parent. The latter being most difficult as a parent and caregiver need to learn to let go.

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.