“To Cure Sometimes, To Relieve Often, To Comfort...

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“To Cure Sometimes, To Relieve Often, To Comfort Always”

DDC Clinic mission: To enhance the quality of life for people with special needs caused by rare genetic disorders

DDC Clinic – Started with a Family Story

• An Amish family with four children suffering from a devastating condition tried to find the answer

• In 1998, five families traveled hundreds of miles to PA to see Dr. Holmes Morton

• A discussion about a new clinic was initiated on their way back

DDC Clinic – Started with a Family Story

• A clinic was started with $50 collected in an Amish hat

DDC Clinic – History

• Inspired by Dr. Holmes Morton’s clinic in Lancaster, PA

• Community-based initiative for a dream of • A gathering place • A place of love, compassion, and caring where our

children and families are respected • A place where people take time to listen and share • A place of faith and hope

DDC Clinic – Setting

• In 1999, a 501(c)(3) non-profit organization started in Middlefield, Geauga County of Ohio • Total population ~95,000, Amish ~14,000 (15%) • 50% of developmental disabilities are from Amish • One hour (but a world) away from world class healthcare

• A collaboration of families, Amish communities, medical professionals, and research scientists • Comprehensive patient care • Patient-oriented translational research • Community-based education

DDC Clinic – Mission and Vision

• Our Mission To enhance the quality of life for people with special needs caused by rare genetic disorders

• Our Vision DDC Clinic is a world-class medical home

Medical Home Medical home is not a building, house, hospital, or

home healthcare service, but rather an approach to providing comprehensive primary care

“A medical home is defined as primary care that is accessible, continuous, comprehensive, family centered, coordinated, compassionate, and culturally effective.”

The American Academy of Pediatrics (AAP)

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2003

A Journey of Hope

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Initial Visit Current Status

Diagnosed

DDC Clinic’s LEED Gold Facility Opened in 2009

LEED: Leadership in Energy & Environmental Design

DDC Clinic – A Unique Collaboration

• Serves about 720 patients from 32 States, Canada, Asia and Australia, with over 80 different diseases

• Over 80% of our patients are Amish or Mennonite • No family is turned away based on their ability to pay

…“It may be too late for us, but if we can help others with this center, we’ll gladly do that” … From an Amish father with 4 special needs children (New York Times 6/20/2002)

To cure sometimes To relieve often

To comfort always (Dr. Edward Livingston Trudeau, 1848-1915)

Perspective in Medicine

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Many people have heard of this famous say, it was particularly inspiring, and described well the picture when we talked about TB over 100 years ago. I used it when I gave a talk to medical students and young doctors about our perspective in medicine

To comfort always

Genomic Medicine

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To use this famous say from different perspective The genetic diseases can be put into 3 categories It is completely wrong to assume that there is nothing we can do about for the genetic conditions because we are born with We may need to consider that what is meant for cure – if an individual now live with a normal life with a special diet, does it mean that he/she is cured? To use this famous say from different perspective The genetic diseases can be put into 3 categories It is completely wrong to assume that there is nothing we can do about for the genetic conditions because we are born with We may need to consider that what is meant for cure – if an individual now live with a normal life with a special diet, does it mean that he/she is cured?

To cure sometimes

Genomic Medicine

Glucose/Galactose Malabsorption

• Autosomal recessive disorder • Less than 100 patients reported worldwide • Manifestations: Severe diarrhea, dehydration and

malnutrition • A potentially lethal disease, but very treatable • Treatment: carbohydrate-free

or low-carbohydrate diet • DNA testing with cord blood

Conner Teare’s Story

To relieve often

Many genetic conditions fall into this category

Cohen syndrome TMCO1 defect syndrome Prolidase deficiency Ganglioside GM3 synthase deficiency SAMS association

Genomic Medicine

To comfort always

Examples: Chicken breast disease Cockayne syndrome MOPD (Microcephalic Osteodysplastic Primordial

Dwarfism) Type I

Genomic Medicine

Presenter

Presentation Notes

To use this famous say from different perspective The genetic diseases can be put into 3 categories It is completely wrong to assume that there is nothing we can do about for the genetic conditions because we are born with We may need to consider that what is meant for cure – if an individual now live with a normal life with a special diet, does it mean that he/she is cured?

Where do we stand and where are we going?

To comfort always

Diagnosis – early, quick, reliable, affordable Research – patient-oriented, translational Treatment – new directions, novel approaches

Translational Genomic Medicine in Plain Populations

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Holmes has already summarized well in his talk about where do we stand and where are we going. I would like to us this famous say to put what we are doing in perspective. How can we change

Molecular Diagnostics Laboratory A CLIA certified genetic lab

to provide high complexity clinical tests

Only one of few labs focusing on plain communities in the country

An affordable service compared with those in major medical centers

Offering over 40 targeted mutations tests

Clinical Use of New Technologies

Chromosomal microarray (CMA) CytoScan HD – with more than 2.6 million SNPs

Next-generation sequencing Autism sequencing panel – 101 genes Cardiomypathy panel – 46 genes Mendelian inherited disease panel – 552 genes

Plain population panel – over a hundred of diseases

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Dr. Sandy Markowitz’s lab

Ganglioside GM3 synthase deficiency Neurodegeneration with brain iron accumulation

1 (NBIA1) Pyruvate kinase deficiency Phenylketonuria (PKU) SAMS association

New Treatments and Clinical Trials

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To use this famous say from different perspective The genetic diseases can be put into 3 categories It is completely wrong to assume that there is nothing we can do about for the genetic conditions because we are born with We may need to consider that I is meant for cure – if an individual now live with a normal life with a special diet, does it mean that he/she is cured?

To comfort always

Genomic Medicine – in 20 Years?

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This famous say was well received a hundred years ago when we described tuberculosis. If we use it to describe TB today, it almost becomes laughable I hope that this becomes laughable when we describe many genetic disorders in in the future, maybe in 20 years I also hope that in 20 years, when we talk about those potentially treatable genetic diseases, the work from plain communities, their participation and contribution will be still remembered. Thank you!

Plain communities – we have the privilege to work with

Countless supporters – you make it happen The children and families we serve – you are our

inspiration everyday

Dedicated to

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Presentation Notes

This famous say was well received a hundred years ago when we described tuberculosis.

“To Cure Sometimes, To Relieve Often, To Comfort...

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