A day in the life

Mark Korson has worked for 30 years in clinical medicine as a biochemical geneticist, caring for children and adults with inborn errors of metabolism, and their families. Such a patient practice involves consulting on cases referred because of symptoms that raise concerns about a possible underlying metabolic diagnosis and managing patients with a proven disease or a diagnosis that is highly suspected. During this period of time, it became very apparent to him that this field of medicine is in crisis; more specifically, there are not enough “metabolically-trained” health professionals to serve the needs of the patients identified with these disorders. With the number of new cases identified through newborn screening, and the new metabolic diseases still being described each year, and the limited numbers of young physicians who are training in this area, the severity of the crisis is only expected to get worse. This is the situation in North America, and it is a far bigger problem in the developing world.

Korson

Mark Korson, MD, VMP Genetics

Mark left clinical practice two years ago to participate in a start-up focused on educating physicians and specialists about genetic metabolic disorders so that they might play a greater role in the diagnosis and management of patients with these diseases – education to address a workforce shortage problem. This involves directing a telehealth peer-to-peer consultative support program and helping physicians manage their patients. They have access to an expert metabolic opinion whenever they have a need. Like an apprenticeship relationship; the more cases they discuss together, the more familiar the client will become over time with the diagnosis and treatment of these disorders. This is what a typical day looks for him in his own words: 

9:00 AM
I speak with a physician who is trained in clinical genetics but not biochemical genetics. She is the only geneticist in her state, and she is responsible for directing the care of those patients with metabolic disease. We review the status of her two-year-old patient with a urea cycle disorder who is maintained on a very restricted diet and who takes special medications to keep his blood level of ammonia under control. High levels can be associated with vomiting, lethargy, and if untreated, coma and death. Despite this degree of care, the toddler still ends up being admitted to the hospital every 1-2 months when ordinary infections destabilize him. He has been listed for a liver transplant which will be curative but in the meantime, for today, he is in the emergency department because of vomiting. I discuss with his geneticist a plan for the day, including testing and treatment. After our discussion is complete, I type a quick note and send it to her so she has a copy of our discussion and plan in black-and-white. 

10:30 AM
I meet through web conferencing with a group of clinicians in the Republic of Georgia (pediatric neurologist, geneticist, pediatrician, and neonatologist) to discuss three cases: a child with recurrent hypoglycemia, a child with profound developmental delays, seizures and some dysmorphic features, and a baby whose blood acid level is unusually high (metabolic acidosis). In all three situations there are concerns about a possible metabolic diagnosis. We discuss the clinical possibilities (the differential diagnosis), the pertinent testing to be done, and what treatment approach might be useful at this time. Again, a summary of the discussion and plan is drafted and sent to the Georgian group.

12:00 PM
A planning meeting begins to discuss an outreach to the newborn medicine specialist community. They are on the front line when newborns with severe forms of metabolic disease present. However, their training in metabolic disease is limited, and only some disorders are identified through newborn screening; also, symptoms may develop before newborn screening results become available. A full day workshop is planned to occur at the annual professional conference that attracts over 1500 newborn medicine doctors and nurses each year. Hopefully, if it is successful, the workshop will be repeated every year to teach new attendees, both physicians in practice as well as their trainees. To maximize learning, such a workshop must discuss symptoms that the specialist cares about, and the sessions must be very clinical, practical, and case oriented. An audience response system will ensure that the workshop will be interactive. Finally, it is important that the teaching be pitched appropriately for the audience, without an excessive amount of information pushed at them. Teaching is good but if really conducted well, teaching can be powerful. It is decided that a full day workshop about metabolic diseases will be held the day prior to the start of an annual national neonatology meeting, so that attendees have the option of arriving a bit earlier and attending this workshop as well. The topics will concern metabolic approaches to seizures, liver disease, biochemical abnormalities, and other issues of relevance to this physician population.

3:00 PM 
I checked in with the geneticist about our patient in the hospital. The tests show that his status is moving in the right direction, and a little patient is looking better. We make a plan for the night and we will speak again tomorrow, with the understanding that if anything unanticipated happens during the night, we will talk then.

3:30 PM
As co-director of the the North American Metabolic Academy (NAMA), an intensive week-long training opportunity for (primarily North American) genetics trainees, I am involved in the planning, updating, and implementation of the annual event which brings together about 50-60 trainees each year. To date, over half the trainees in North America have participated in NAMA, sponsored by the Society of Inherited Metabolic Disorders, the national society of clinicians whose professional focus is on patients with inborn metabolic errors. A wide range of metabolic diseases is included in the curriculum, including new disorders recently discovered. A number of different teaching approaches are used – a traditional didactic method, small group discussions that focus on case reviews, debates about controversial topics led by faculty in front of the attendees, and during the last night, a talent show and a game of Metabolic Jeopardy! Not only are the training attendees exposed to teaching about may groups of diseases, they also meet a sizable selection of their peers (as well as 15 or so senior faculty from around the continent), establishing connections of potential importance for their career development. This involvement provides me an opportunity to help influence the metabolic clinicians of tomorrow.

4:30 PM
Finally, my day ends with a conference call that convenes the board members of a non-profit devoted to improving the lives of patients with rare diseases through education and advocacy. As a physician, I offer a clinical perspective to the direction of the organization, planning conferences of relevance to the patient community and sometimes other professionals as well. Today we are planning a conference for sometime later in the year, and I plan to participate as a speaker, discussing how parents and families with rare, complex diseases can better navigate a health care system that itself is becoming more and more complex.

Finally, my day ends with a conference call that convenes the board members of a non-profit devoted to improving the lives of patients with rare diseases through education and advocacy. As a physician, I offer a clinical perspective to the direction of the organization, planning conferences of relevance to the patient community and sometimes other professionals as well. Today we are planning a conference for sometime later in the year, and I plan to participate as a speaker, discussing how parents and families with rare, complex diseases can better navigate a health care system that itself is becoming more and more complex.


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