Pediatric EDS and HSD: Exploring The Impact of Misdiagnosis

On January 10, 2021, The Ehlers-Danlos Society hosted an awareness event exploring misdiagnosis of hypermobility spectrum disorders [HSD] and Ehlers-Danlos syndromes [EDS] and child abuse. The Ehlers-Danlos Society has been hearing from a growing number of families and individuals sharing their experiences of being diagnosed with a factitious disorder, either imposing ill health on self or, more typically, a parent on a child. We note that Ehlers-Danlos syndromes are being listed as a condition to be concerned about, in situations where factitious injury or illness is suspected. The Ehlers-Danlos Society would like to understand why this is happening, and what role non-profit organizations and charities can do to support better understanding in our communities, among clinicians, and social services.

The event started with a series of presentations from doctors, members of the HSD and EDS community, advocacy groups, and a legal perspective. Following on from these presentations, a number of individuals and organizations, including some of the presenters met to discuss ways forward.

Watch the presentations from Pediatric EDS and HSD: Exploring The Impact of Misdiagnosis

The following talks are from the event Pediatric Concerns in EDS and HSD: Exploring the Impact of Misdiagnosis. The context of this event is vital and we encourage all to watch the event in full.

The talks from this event do not represent the opinions of the Society and are the perspective of the specific body. The talks from this event demonstrate a breadth of opinion that is the reality of the situation we face.

Following this event, the AHEAD Coalition was formed to tackle these issues, learn more here. For more information on child protection click here.

 

Pediatric EDS and HSD: Exploring The Impact of Misdiagnosis

Welcome & Introductions to Session 1

Prof. Lara Bloom

Lara Bloom is the President and CEO of The Ehlers-Danlos Society. 

The Ehlers-Danlos Society has been hearing from a growing number of families and individuals sharing their experiences of being diagnosed with a factitious disorder, either imposing ill health on self or, more typically, a parent on a child. We note that the Ehlers-Danlos syndromes are being listed as a condition to be concerned about, in situations where factitious injury or illness is suspected. The Ehlers-Danlos Society would like to understand why this is happening, and what non-profit organizations and charities can do to support better understanding in our communities, among clinicians, and social services.

Why We Are Here & Where We Are Internationally

Dr. Louise Tofts

Dr. Louise Tofts is an accredited rehabilitation physician and pediatrician. Louise currently practices at Kids Rehab the Children’s Hospital at Westmead, Narrabeen Sports Medicine Centre, and Delmar Private Hospital. She trained and practiced in London, England at St Bartholomew’s Hospital, The Royal London Hospital, and Great Ormond Street Hospital for Sick Children. 

Louise is the chair of the Pediatric working group for the International Consortium who will form the core group that will be driving forward the changes and research needed following this meeting.

The UK Paediatric Rheumatology Perspective

Dr. Kathryn Bailey

Dr. Kathryn Bailey is a paediatric rheumatologist based in Oxford, UK, who runs a paediatric rheumatology service together with a children’s chronic pain service. Dr. Bailey presents on “The UK Paediatric Rheumatology Perspective.”

When Is It Abuse?

Dr. Brad Tinkle

Brad T. Tinkle, MD, Ph.D., is a clinical and clinical molecular geneticist who specializes in heritable disorders of connective tissue. Dr. Tinkle is now the Medical Director of Clinical Genetics at the Advocate Children’s Hospital and the Advocate Medical Group, a 12-hospital system in the Chicagoland area. 

Session 2 – Introduction

Prof. Lara Bloom

Lara Bloom is the President and CEO of The Ehlers-Danlos Society. 

The Perspective of a Mother & a Health Care Professional

Unfortunately this presentation is unavailable at this time. 

Dr. Anne Maitland

Dr. Anne Maitland has been named one of New York Times Super Doctors since 2011 and one of America’s Top 21 Women’s Doctors by Lifescript.com in 2009. She is a Fellow of the American College of Allergy, Asthma and Immunology and a member of the American Academy of Allergy, Asthma, and Immunology.

Dr. Maitland is active in local societies and the surrounding communities, to increase awareness of immune-mediated disorders, including primary immune deficiency and mast cell disorders. She joins us to talk about the perspective of a medical professional, and as a mother, discussing the challenges her daughter has faced with Ehlers-Danlos syndrome. 

Community Voices

Ellie & Caroline

Ellie joins us with her mum, Caroline to talk about their experiences with misdiagnosis, delays in diagnosis, and accusations of FII. Ellie is 17 and has hypermobile EDS (hEDS). Ellie has a diagnosis of delayed gastric emptying, is fed by a jejunal tube, and has a PEG tube in situ j. Ellie has also been diagnosed with GERD, POTS/Dysautonomia, MCAS, and visceral hypersensitivity. 

Community Voices

Conrad Wilde

Conrad Wilde is 28 years old, from Ontario, Canada, formally diagnosed with Generalized Hypermobility Spectrum Disorder and a number of other conditions. He lives together with his devoted partner in an apartment full of pets, plants, and unfinished projects, where they are regularly joined by an excellent 9-year-old son. Life as a disabled transgender person with a loud disposition has made Conrad someone who advocates resolutely for himself and others, but this does not always go as intended. 

The vEDS Perspective and The Kennedy Forum

Kara Kukfa

Kara Kufka is the Mother of a child with vEDS, and chief of staff at The Kennedy Forum. Founded in 2013 by former Congressman Patrick J. Kennedy (D-R.I.), The Kennedy Forum leads a national dialogue on transforming mental health and addiction care in the U.S. by uniting mental health advocates, business leaders, and government agencies around a common set of principles, including full implementation of the Federal Parity Law. Launched in celebration of the 50th anniversary of President John F. Kennedy’s signing of the landmark Community Mental Health Act, the nonprofit aims to achieve health equity by advancing evidence-based practices, policies, and programming in mental health and substance use.

Session 3 – Introduction

Dr. Alan Hakim

Dr. Alan Hakim is an Acute Physician and Rheumatologist with a specialist interest in heritable disorders of connective tissue. Dr. Hakim is the Chief Operating Officer of The Ehlers-Danlos Society, a Medical Advisor to Ehlers-Danlos Support UK, and a Member of the Steering Committee of the International Consortium on The Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

The USA FII Story

TCAPP – THE COALITION AGAINST PEDIATRIC PAIN

Donna Sullivan is a passionate writer who uses her skills to help TCAPP creatively raise awareness of the needs of kids living with complex pain. Donna and her husband Bob have three children diagnosed with Ehlers-Danlos syndrome, POTS, and Complex Regional Pain Syndrome. Through her patient advocacy, work with families, and blogging ( TCAPP Parent Talk and Stronger Than It) she hopes to give voice to the real struggles that complex pain families face trying to get experienced care and effective treatment.

Karen Richards is 20 years old. She is affected by a connective tissue disorder of unknown determination that affects her blood vessels in her brain, her joints, and her spinal structure. She also has Mast Cell Activation Disorder, RSD/CRPS, Common Variable Immune Deficiency (CVID), Mitochondrial Dysfunction, and Benign Intracranial Hypertension. 

The UK FII Story

EOS Advocacy

Eos Advocacy are a specialist advocacy and support service operating across the UK committed to providing ethical yet high standard low-cost specialist support to families. From supporting parents facing false allegations to supporting applications for the provision of special educational needs assistance in schools, Eos Advocacy are committed to providing the highest level of advocacy.

With an impressive case history of successes, particularly in regards to false Fabricated or Induced Illness allegations or complaints processes, the team at Eos Advocacy are widely acclaimed for their skill sets and experience therefore are often asked to speak in the national media regarding their work alongside other leading UK professionals and are listed on the independent experts lists for notable legal firms and charities.

The Gap in Access to Care

Healthwatch Calderdale

Karen Huntley

Healthwatch is “the independent national champion for people who use health and social care services.” They work to find out what matters to people and help make sure their views shape the support they need. There is a local Healthwatch in every area of England. 

Karen has worked for Healthwatch Calderdale since 2016, assisting in providing the Independent Health Complaints Advocacy Service, as well as in carrying out engagement projects. Karen has worked previously with people with chronic health conditions as an advocate, a wellbeing practitioner, a horticultural therapist, and a health coach.

Dr. Norman Sterling-Baxter

Dr. Norman Sterling-Baxter is an independent researcher with a Doctorate (Ph.D.) exploring institutional abuse and organizational culture in institutional care settings for older people from Leeds Beckett University. Experienced Senior Human Resources Officer with a demonstrated history of working in local government and in a multi-agency capacity. 

A UK Legal Perspective

Paul Storey, QC

Paul practices mainly in the field of children’s law. He has extensive experience in complex and high-profile High Court cases involving allegations of serious non-accidental injuries and homicide especially those concerning scientific or medical issues.

He has extensive experience in appellate work in the Court of Appeal ranging from public law cases, private law cases, those with a human rights element, paternity, and disclosure. He also has significant experience in the Supreme Court, having appeared on numerous occasions.

His private law practice includes cases with LGBT issues, and those involving disclosure issues, and alleged sexual abuse.

He has been involved in a number of cases concerning individuals with learning disabilities or other vulnerabilities and has a particular interest in these areas.

Inevitably, in a practice such as this, Paul’s cases regularly involve the application of the Human Rights Act 1998, in which again, he has a particular interest.

Session 3 – Closing Remarks

Prof. Lara Bloom

Lara Bloom is the President and CEO of The Ehlers-Danlos Society. 

Please note that these presentations and materials are provided for your personal, educational use. They remain the intellectual property of the presenters with all rights reserved, and cannot be reproduced without permission. The Society is not responsible for the content of presentations.