Rare disease experts are far rarer than the patients they care for and number in the dozens. A previous blog addressed a variety of reasons why the community of physicians is diminishing quickly, having lost a number of practitioners in just the last year. Those reasons include poor reimbursement for services and lack of support for chronic and complex disease in many hospital systems and the departments like genetics and neurology who care for these patients, reduced numbers of people entering the field and changes in healthcare with more focus on primary care.
For those of us who are continuing to manage this patient population we find ourselves overworked, overwhelmed and struggling. One colleague in an academic practice relayed that departmental demands dictate that he spend only 20 minutes with patients in follow-up. Anyone who sees such complex cases knows that addressing a multitude of body system problems requires at least an hour evaluation thus the reason we have created our existing model of at least 60 minutes for follow up and 90+ minutes for new patient evaluations.
Clearly, all of these issues have an enormous impact on the care and management of rare disease patients. Patients who are seen for only 20 minutes can only address one or several of a litany of complicated issues affecting their day-to-day lives being left in limbo for the management of other problems not addressed in that abbreviated patient evaluation. Shortened patient consultations lead to more frequent visits adding yet another layer of complexity to the care required for complicated patient populations.
While I do not for see that many of the ills of modern medicine will be resolved shortly, there are ways for patients with complex and multi system problems to more effectively utilize a flawed system. Although I strongly recommend that patients seek consultation at least once per year with a true expert who can spend at least an hour in evaluation, I recognize that we still cannot contend with all aspects of patient care without assistance and I personally encourage all of my patients to find a thoughtful, dedicated, and available primary care physician to run point on many of their care issues while receiving support from knowledgeable sub specialists including myself.
Let us take a moment and address the potential general role of the primary care physician in the care of patients with chronic disease and the pros and cons of receiving care from a PCP versus a subspecialist and discuss how, optimally, you have a team which includes both. In her book, "Living Well with Mitochondrial Disease", Cristy Balcells discusses just this topic.
So, the first question is where does the PCP fit into this picture? Before diagnosis, a PCP is critical in recognizing the signs and symptoms of abnormal functionality but not necessarily mitochondrial disease specifically. Their next job is to promptly refer to the appropriate sub specialists for ongoing evaluation. After diagnosis, a good PCP can function as the manager and coordinator of care. This is the area of care most important for the long term management of mitochondrial or chronic disease patients.
What are the advantages of having a dedicated PCP as your mito care coordinator?
What are the disadvantages of having a PCP as your care quarterback?
Clearly, there are advantages and disadvantages of having a PCP run point but, as stated, the number of patients in a rare disease community outstrips the rare disease specialists and our ability to deal with every aspect of daily care. As such, a coordination of care between a specialist and a PCP is critical with the specialist making the necessary recommendations for management and educating the primary provider on appropriate approaches to various issues.
The following is a case study that outlines an example of coordinated care that will result in improved outcome for this patient:
The patient is a 10 year 7 month old little girl with PDH deficiency (pyruvate dehydrogenase deficiency) and thiamine responsive mutation. She is currently on a modified ketogenic diet, thiamine, alpha lipoic acid, biotin and other supplements.
Recent labs to include carnitine, lactate, CBC and CMP were notable for a lactate of 34 (normal in the testing laboratory was about 16) and CO2 of 18 (low normal) indicating adequate buffering of her chronic lactic acidosis.
Because of diminished tone she requires scoliosis surgery.
Given this child’s underlying disorder and secondary complications, how can we work together to reduce her risks for her upcoming procedure?
We must first identify the problems facing this child in the context of her upcoming surgery. The major issues facing her during her surgery are the management of the following:
The role of the mitochondrial specialist is to provide guidance on the issues at play and provide the PCP/surgeon and other team members with the tools to approach these issues. In this specific case, failure to do so can lead to severe metabolic acidosis for this patient with resulting cardiorespiratory arrest and prolonged recovery with possible permanent decompensation and loss of skill due to tissue and organ damage during the proposed procedure and pre- and post op periods.
A plan for this patient would include early admission prior to procedure to prevent NPO status (no oral intake) and fasting stress with administration of supporting fluid therapy preventing a catabolic state and increased lactate levels, use of surgical protocols outlining anesthesia and other medication risks (we have specific protocols for our patient population), development of guidelines for frequency of lactate and CMP monitoring to identify and treat resulting metabolic acidosis that may occur, nutritional plan for advancing her diet once she is stable enough for feeds, and discussion of pain management to improve recovery keeping in mind that pain leads to distress, poor eating and longer recovery times. Of note, in some cases I have administered fluids at home the night before the procedure to prevent early hospitalization and diminished stress on the patient.
Once developed and outlined by the mitochondrial specialist, the PCP can implement the recommendations locally to ensure a good outcome for the patient.
In summary, for a variety of reasons, there are a limited number of providers who are clearly experts in a given rare disease. Due to increasing patient numbers and elimination of programs and reduction in the number of trained physicians, it is critical for patients and families to identify a compassionate, available, dedicated PCP who is willing to learn and work with experienced specialists to improve care and outcome for patients regardless of physical local. Finding a good PCP willing to take on complex disease can be difficult but networking with other families in your area to identify individuals or practices who have been supportive of complicated patients may be helpful in finding the right provider for you or your child. Also, once you identify a given physician or practice schedule an appointment to meet with them to outline your expectations and their ability to meet your needs. As I relay to my patient population you do not need a PCP nor will you find one who thoroughly understands rare disease but they must have a willingness to learn. Aside from your expert, there are a number of resources available to the PCP to learn more about rare disease such as mitochondrial disease to include Mitoaction, Mitochondrial Medicine Society, United Mitochondrial Disease Foundation (UMDF), symposiums and other educational formats including our blog and “Living Well with Mitochondrial Disease”, a handbook for patients, parents, and families by Cristy Balcells, RN, MSN (can be purchased on Mitoaction website or Amazon.com). Together, we can achieve a better outcome for affected patients.
Fran Kendall, M.D.
This post is not meant to be a recommendation or a substitute for professional advice and services rendered by qualified doctors, allied medical personnel, and other professional services. The responsibility for any use of this information, or for proper medical treatment, rests with you.