Metabolic Medicine - FOD Support · METABOLIC EMERGENCIES Mark S. Korson, MD . WHEN TO THINK...

Metabolic Medicine: At a crossroads

Mark S. Korson, MD Tufts Medical Center Boston, MA

A Promising Future!

• New diagnostic technologies are being developed

• Newborn screening programs are expanding to include new disorders

• New and innovative therapies are being developed

• There is a gradual rise in “metabolic awareness”

An Evolving Crisis – in care

• The # of diagnosed metabolic patients is rising • The amount of work/patient is also rising:

– therapies become more complex – insurance coverage becomes more of a

challenge – community and support services shrink – primary doctors are playing less of a role in complex

care


• The # of diagnosed metabolic patients is rising • The amount of work/patient is also rising But… • The # of metabolic clinicians is not increasing • A large # of metabolic clinicians will retire within the next 5-10 years


• Most metabolic physicians are pediatricians but metabolism is no longer just a pediatric subspecialty

• Adult medicine trainees have little/no metabolic experience

• Transition from pediatric adult health care is a major issue

An Evolving Crisis – in education

• Teaching about metabolic disorders at all levels of medicine is inadequate

• Exposure by students and residents to the field of metabolic disorders is very sporadic

• Awareness about biochemical genetics as a career choice is low

An Evolving Crisis!

•  In workload •  In numbers of metabolic personnel (pediatrics and adult medicine)

•  In numbers of metabolic trainees •  In metabolic disease awareness and education

Threatens the care of

metabolic patients

Threatens the wellbeing of metabolic

professionals

Current Approaches - 1

Increase the # of metabolic clinicians:

  Funding from industry to help support fellowship training in biochemical genetics

  North American Metabolic Academy


Increase the # of metabolic clinicians:

  North American Metabolic Academy

•  annual event, beginning in 2008

•  30 trained per year, this year 45

•  targets Genetics and Metabolism trainees to provide a better foundation in metabolic disease


Educate non-geneticists in metabolic diagnosis and management

Educate medical students, interns and residents at teaching hospitals

Current Approaches- 2

Metabolic Outreach Service

Current Approaches- 2

•  Occurred at Boston Medical Center (Boston University Medical School affiliate) Nov/03 - Jul/04

•  Pilot supported by Genzyme Therapeutics

Date Event Topic # Attendees

Nov 2003 Pedi Resident Rds Hypoglycemia 15

Dec 2003 Grand Rounds Hyperammonemia 60

Dec 2003 Case of the Wk Patient Forum: urea cycle disorder

75

Feb 2004 Case of the Wk Unknown case: Hypoglycemia

75

Mar 2004 Pedi/Adult ER Rds Lethargy in the ER 35

Mar 2004 Pedi Morning Rds Unknown case: Vomiting with lethargy

15

Mar 2004 Resident Rds Coarse-appearing facies 12

Apr 2004 Pedi Morning Rds Unknown case: Neonatal seizures

21

Apr 2004 NICU Rounds Metabolic disease in infancy

12


May 2004 Case of the Wk Gaucher disease 42

May 2004 Pedi Morning Rds Gaucher disease, mitochondrial disease

12

Jun 2004 Pedi Morning Rds General symptoms 22

Jun 2004 NICU Rounds Metabolic liver disease, Part I

7

Jun 2004 NICU Rounds Metabolic liver disease, Part II

7

Jun 2004 Pedi Morning Rds Neonatal liver disease 23

July 2004 Case of the Wk Mitochondrial disease 55

July 2004 Pedi Morning Rds Neurodegenerative disease in newborns

14

July 2004 Cardiology Rds Metabolic heart disease 22


May 2004 Case of the Wk Gaucher disease 42

May 2004 Pedi Morning Rds Gaucher disease, mitochondrial disease

12

Jun 2004 Pedi Morning Rds General symptoms 22

Jun 2004 NICU Rounds Metabolic liver disease, Part I

7

Jun 2004 NICU Rounds Metabolic liver disease, Part II

7

Jun 2004 Pedi Morning Rds Neonatal liver disease 23

July 2004 Case of the Wk Mitochondrial disease 55

July 2004 Pedi Morning Rds Neurodegenerative disease in neonates

14

July 2004 Cardiology Rds Metabolic heart disease 22

In the audience:

-  Medical students - Interns and residents - Attending physicians (generalists and subspecialists)


•  Began in November 2007 with generous support from:

•  Genzyme Therapeutics •  Ucyclyd Pharma •  Shire Human Genetic Therapies •  Sigma-Tau, Inc •  Actelion Pharmaceuticals •  Biomarin Pharmaceutical •  The Baby Lorenzo Gregory Scavio Fund

Baystate Medical Center

Dartmouth-Hitchcock Medical Center

Vermont Children’s Hospital

Boston Med Ctr

Eastern Maine

Medical Center

Maimonides Medical Center


•  All major teaching hospitals

•  Each has a Genetic Service

•  The Genetic Services do not feel comfortable managing metabolic patients

Metabolic Outreach Service - Aims

1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist

3. Cultivate a local metabolic expertise

5. Develop long-distance mechanisms for aiding in diagnosis and treatment

7. Attract trainees to a career in biochemical genetics

Metabolic Outreach Service - Aims

1. Provide a sustained educational outreach to medical centers without an on-site metabolic specialist

3. Cultivate a local metabolic expertise

5. Develop long-distance mechanisms for aiding in diagnosis and treatment

7. Attract trainees to a career in biochemical genetics

• Educational workshops • Laboratory workshops • Patient Forums

Case # 6

A 2 ½ year old boy develops cough and cold symptoms two days prior to admission. His pediatrician diagnoses a pharyngitis; the patient takes only fluids but smaller volumes than usual. On the morning of the third day, he is pale and difficult to rouse. He is rushed to the ER and has a seizure in the car. His blood glucose measures 25 mg/dL. Blood gases – pH=7.29, pCO2=31, HCO3=15. Electrolytes measure Na=131, K=4.4, Cl=99. His urinalysis shows - pH=5.0, no glucose or protein, and 1+ ketones.

Case #6: Analysis

•  Blood gases: primary metabolic acidosis, secondary respiratory alkalosis

•  Anion gap = 17 •  Ammonia = not known •  Glucose = low •  Ketones = inappropriately low

HYPOGLYCEMIA Check urine ketones

Ketotic hypoglycemia Stress Metabolic disease Endocrinopathies

INAPPROPRIATELY LOW KETONURIA

High Insulin State

Low Insulin State

Insulin tumor Infant of DM mother Beckwith-Wiedemann

syndrome Iatrogenic

Fatty acid oxid’n defects

GSD type I

APPROPRIATE KETONURIA

Case #6: Analysis

Patient Forums

• Brief introductory overview of the disease from a medical perspective

• Patients and parents speak and share: – Their diagnostic journey – Their perspectives on therapy – The day-to-day challenges they face

Patients don’t talk about facts; they tell a story and people remember stories.

Patient Forums

• This aspect of the Outreach Service is called the

Patient-As-Teacher Project

Patient Forums

• Speaker’s Registry = 60 patient/parent teachers, representing 25 different diagnoses

• Most are repeat speakers

Patient Forums

The audience remembers!

They generate interest

Case Reviews

• On-site • Long distance • This is NOT a satellite clinic – it’s about helping clinicians work through their own cases

As of June 2010: • # of educational sessions = 136

• # of patient forums = 21 (13 disorders)

• # of case reviews = 299

0

15

30

45

60

75

90

105

120

135

150

Oct/2007 Dec2008 Dec2009

LECTURES

0

30

60

90

120

150

300

180

210

240

270

CASE REVIEWS

0

2

4

6

8

10

12

14

16

18

PATIENT FORUMS

CUMULATIVE MOS DATA I Jun2010

20

As of June 2010: • TOTAL # participants in MOS = 5174

0

600

1200

1800

2400

3000

3600

4200

4800

5400

6000

Oct/2007 Dec2008 Dec2009

# PARTICIPANTS IN ALL MOS ACTIVITIES

CUMULATIVE MOS DATA II Jun2010

Evaluation of MOS

• Attendance • Evaluations • Audience response system • Lab test ordering • New interest in metabolic disease • Clinical care

Evaluation of MOS – Evaluations

• Achieved stated goals = 4.8

• Topic relevant = 4.03

• Presentation effective = 4.65

• Audience participation = 4.52

• Overall satisfaction = 4.8

5 4 3 2 1

Evaluation of MOS – Evaluations

• Will this information change your practice?

 YES = 454

 NO = 51

Evaluation of MOS – ARS

• Audience response system • A test of short-term learning

Baystate Medical Center Lecture – Overview of acute metabolic disease

RESULTS OF PRE- AND POST-TESTING June 29-30, 2010

TOPIC PRE (% correct answers) POST (% correct answers) Urea cycle disorder testing 70 90 Significance of high ammonia 75 91 ER mgmt of metabolic crisis 53 94 Fatty acid oxidation testing 93 84 Triggers for metabolic crisis 61 93 Organic acidemias – testing 3 45 Metabolic disease + sudden death 50 74 Metabolic physiology 68 100 Hypoglycemia 59 65 Fatty acid oxidation defects 33 42 Metabolic disease testing 71 91 Metabolic disease testing 75 94 # of RESPONDENTS 33

Maimonides Medical Center Lecture – A case of hepatosplenomegaly

March 11, 2010 TOPIC PRE (% correct answers) POST (% correct answers)

Age of presentation of Gaucher

0 77

Bone pain in Gaucher disease

30 67

Ethnic predilection in Gaucher

96 100

Gaucher sub-types 77 92 Gaucher type I phenotype

58 84

Testing for Gaucher 96 100 Organ screening in Gaucher

85 96

Gaucher therapy 54 85 # RESPONDENTS 40

Evaluation of MOS – Lab Test Ordering

AMMONIA

2007 2008 2009

Baystate 2630 2717 2958 Dartmouth 57 98 99 Vermont 70 92 88 Maimonides - 1355 1749

Onset of MOS


BLOOD AMINO ACIDS

2007 2008 2009

Baystate 246 189 189 Dartmouth 57 98 99 Vermont 24 47 74 Maimonides 38 43 20

Onset of MOS


URINE ORGANIC ACIDS

2007 2008 2009

Baystate 285 196 196 Dartmouth 112 128 128 Vermont 0 34 70 Maimonides 37 32 29

Onset of MOS

Evaluation of MOS – New interest

Electives: 2 pediatric residents 3 medical students

Projects: 1 genetic counselor 3 medical student projects

Evaluation of MOS – Clinical care

Increasing the role of non-metabolic centers in metabolic care:

1.  Newborn with a urea cycle disorder in Burlington, VT

2.  Developing a “metabolic supervision service” •  Baystate Medical Center •  Vermont Children’s Hospital •  Eastern Maine Medical Center

What have I learned?

• People like simple, clinical, practical, interactive workshops that are symptom-based, not disease-based



• Repetition is a powerful teaching tool

METABOLIC APPROACH: Metabolic Acidosis, Hyperammonemia, Hypoglycemia

Mark Korson, MD Metabolism Service

Mark S. Korson, MD

The Dietary History: A Metabolic Clue

METABOLIC EMERGENCIES

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WHEN TO THINK METABOLIC WHEN YOU’RE DOING GI Mark S. Korson, MD

HYPERAMMONEMIA: A Metabolic Approach

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NEWBORN SCREENING:

Mark S. Korson, MD

The Largest and Most Successful Genetic Screening Program in the World

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Pregnancy Affecting Metabolic Disease and Metabolic Disease Affecting Pregnancy

PSYCHIATRIC SYMPTOMS IN METABOLIC DISEASE

Mark S. Korson, MD

Metabolic Causes of Stroke

Mark S. Korson, MD

The Vomiting Child: When to think “metabolic”

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Metabolic Disease in Adult Medicine: What (and who) are we missing?

Mark S. Korson, MD

BOARD REVIEW QUESTIONS: for Pediatrics

Mark S. Korson, MD



• Repetition is a powerful teaching tool • Visiting the medical centers educates medical students & house-staff, less so attending physicians

Other subspecialties & metabolic disease

• Survey at NeoPREP • NeoPREP = annual review course for newborn medicine specialists

• 185 respondents • 85% would attend a 1-day course of key metabolic-oriented lectures pertaining to neonatology

PEDIATRIC NEUROLOGY Metabolic Seminars

Example…

PEDIATRIC GI Metabolic Seminars

Example…



• Repetition is a powerful teaching tool • Visiting the medical centers educates medical students & house-staff, less so attending MDs

• Patients and parents are powerful teachers • Teaching medical students early in their training (1st year!) may be a way to get them interested in metabolic medicine


• Expand the Speakers Bureau

• Expand the number of diseases represented in the Speakers Bureau

• Expand the number of speaking opportunities


CURRENTLY - •  Tufts Medical School,

Boston

PLANNED for 2010-2011 - •  Tufts Medical School,

Boston •  Boston University Medical

School •  Dartmouth Medical School •  Univ of VT Medical School •  Downstate Medical School,

NY


CURRENTLY - •  Tufts Medical School,

Boston

PLANNED for 2010-2011 - •  Tufts Medical School,

Boston •  Boston University Medical

School •  Dartmouth Medical School •  Univ of VT Medical School •  Downstate Medical School,

NY

PROMOTE ELECTIVES AND PROJECTS

P stands for PATIENTS PARENTS POWER

Patient Power is not just desirable,

it is essential for the future and wellbeing of this

subspecialty.

Patients = Power

1.  Metabolic clinics cannot do alone all that needs to be done.

2.  Clinicians need the patient perspective. 3.  Patients need to help shape health policy. 4.  Patients can promote communication between

competitive researchers.

Parent/Patient Support Organizations

• Support • Communication • Education • Awareness

•  “Activist” organizations, pushing the field forward • Missions:

– Fundraising – Research grants – Advocacy:

• government • insurance • pharmaceutical industry

– Set public health policy • newborn screening

Parent/Patient Support Organizations

POWER PROJECTS

RESEARCH: 1.  Goals:

•  find better diagnostic tools •  find better therapies •  find a cure

2.  Disease foundation grants supplement the diminishing availability of research funding from traditional sources

POWER PROJECTS

ADVOCACY: Goals:

•  develop support mechanisms within the patient community

•  if patients can advocate for themselves and each other, it eases some of the burden from the clinics

POWER PROJECTS

POLICY/LAW: 1.  Goals:

•  raise awareness about metabolic disease •  develop legislation and policy favorable to

metabolic diagnosis and management 2.  Approach your district representative.

Government listens to voters more than doctors! 3.  Go public on key issues!

POWER PROJECTS

TEACHING: 1.  Goals:

•  raise awareness about metabolic disease •  attract more trainees into this area

2.  Approach your local medical school or teaching hospital, speak in a Speaker’s Bureau, or speak on behalf of a disease foundation

3.  Teach the intern taking care of you/your child 4.  Support teaching initiatives Be patient !

POWER PROJECTS

FUNDRAISING: 1.  Goals:

•  support your local (money-losing) clinic •  support the quality of care you receive •  ask the clinic what they need to serve you

better 2.  Don’t only support innovative ideas or the future

cure. Also support the care that helps patients today.

P stands for PATIENTS PARENTS POWER PARTNERSHIP

Don’t just be my patient. Be my partner in care

and teaching.

THANK YOU FOR LISTENING!

Mark Korson, MD

Tufts Medical Center, Boston 800 Washington Street Boston, MA 02111

[email protected]

Metabolic Medicine - FOD Support · METABOLIC EMERGENCIES Mark S. Korson, MD . WHEN TO THINK...

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