An Information Service for EDS and related disorders
What does the service consist of?
After 40 years of academic and private practice encompassing over 27,000 new medical genetic evaluations, I am changing my genetics practice to an information service that will be backed by continued article and book publication. I stopped in-person clinics in 2018 due to my own arthritis issues and now will provide information including standardized history and physical forms that will allow people to assess their probability of having an EDS diagnosis. Patients can send in their forms for my review and I will provide a packet with a summary letter that they can take to their doctors to obtain appropriate diagnoses of EDS and dysautonomia. I will provide the information free of charge but ask payment of $100 to provide the summary letter and information packet. I no longer have the resources to coordinate DNA testing but the $100 fee will include my interpretation of DNA testing whether it is provided with the history-physical information or sent to me afterwords.
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The next page has a description of the information service that describes options for the summary letter and possible referral for disability consideration. If you are interested in receiving the described information package you should email me at golderwilson@gmail.com and I will forward it to you with the introductory letter, medical history/natural-family history/physical forms along with a table of these finding frequencies in 710 EDS patients, discussion of how EDS clinical and DNA findings correlate, an overview of preventive management and therapy for EDS, and an example of my summary letter. The latter table, correlation discussion, overview of therapy, and summary letter example are shown on later pages of this website. If you want me to provide the letter summarizing your natural history, medical history, and physical findings then you can fill out the appropriate forms and return by e- or snail mail, the check for $100 and/or the mailed forms sent to Golder Wilson MD, 5347 W Mockingbird Lane, Dallas TX 75209.
I want to emphasize several points from discussion in the information package and its several referenced publications that make my perspective on EDS unique or heretical, depending on one's viewpoint.
1) Omission of the autonomic imbalance that produces the digestive issues, chronic fatigue, anxiety, and many other symptoms from adrenaline/"fight or flight" stimulation from EDS criteria causes many patients to be written off as psychos or drug seekers, often seeing 9-10 specialists and enduring years without powerful therapies before the correct diagnosis is made. To promote recognition of these symptoms I urge use of "EDS-dysautonomia" or "arthritis-adrenaline disorder (AAD)" as a category diagnosis for the EDS spectrum and similar disorders, a diagnosis that leads to immediate therapies while further medical and DNA evaluation specifies types or non-EDS disease. Criteria for EDS without the autonomic findings of IBS, POTS, and MCAD is like describing an elephant without a trunk, a myopia I describe in my book in progress as ElDS--Elephant Depreciation Syndrome!
2) The long lists of rare types in the 1998 and 2017 consensus descriptions only promote the idea that EDS is a group of rare and extreme disorders that no busy physician has time or competence to address. In fact, my accumulation of 1900+ EDS patients over 9 years suggests that at least 10% of the 10-20% of people with above-average hypermobility by Beighton score have some degree of distress from their reciprocal tissue laxity and dysautonomia. From 42 years of syndrome experience, propose a simple acronym for suspecting EDS shown below:
The IHAVEDS approach:
Injury -- Dislocations/Sprains/Fractures
Hypermobility -- Double-jointed/Clumsy
Allergy-Adrenaline -- Asthma/Atypical medication response
Vascular fragility -- Bruising/Pooling, Aneurysms (rare)
Elasticity of skin -- Stretch marks/Scars
Digestive -- Constipation/Bloating/Reflux
Stress -- Anxiety/Fatigue/Brain fog
First recognize the possibility of EDS, then worry about rare findings and types!
3) "But don't I need to know the type in order to get proper medical care, and what about the dreaded vascular type?" No, recognizing the AAD profile by a complete documentation of tissue laxity and dysautonomia findings as done with my standard forms gives immediate preventive (wise exercise, bracing for hypermobility) and treatment strategies (hydration, salt, lower gluten-dairy, vitamin D, and a panoply of medications for POTS and Mast cell). It is optimal to have DNA testing to exclude collagen type III and other gene findings that can cause vascular or other severe EDS types, but these are extremely rare. At most 1-2 patients among my 1900+ had the vascular or periodontal EDS that conveys risks for aneurysms, vessel dilatations that occur at low rates in any form of EDS (0.56% of my patients with standard exams) and can be screened using imaging that may be better accepted by insurance than DNA testing.
4) Wont the DNA testing tell me my EDS type. No again--the type, like any clinical diagnosis, is made through note of history and physical findings by an experienced physician. Those with classical cEDS have more scarring, those with hypermobility hEDS more complications like subluxations and joint injuries, but view my articles and you will see that the majority of the 120 history and physical findings that I score overlap among these common EDS types. We have known since the first sequencing of globin gene DNA that changes in different parts of a gene can cause different diseases, those in beta-globin ranging from mild anemia to sickle cell, some sickle cell homozygotes (the classic sickle mutation in both gene copies) having no symptoms at all!. The doctor not the DNA makes a disease or type diagnosis, and I see as many hEDS patients with collagen type V mutations as cEDS patients.
5) By all means get DNA testing if you can obtain it for reasonable cost (less than $300 in my opinion). If you have bowel/blood vessel/uterine ruptures, are too young to show those complications, or are just terrified by the vascular ghoul that hangs over EDS, then the simplest test for exclusion is an EDS DNA panel, offered online by Invitae and other companies for as little as $250. I have been and continue to be very enthusiastic about the almost miraculous ability of NextGen-massive parallel DNA sequencing to screen all of our 23,000+ genes for DNA text alterations that alter RNA/protein and cause disease. New gene discoveries in my 800+ EDS patients along range from many muscle-related genes that will make a muscle or myopathic mEDS the most common type to sodium channel and mitochondrial polymerase genes that cause more dysautonomia. As with the tissue laxity to vessel distensibility to lower body blood pooling to decreased cerebral circulation to stimulation of the adrenergic "fight-or-flight" response, activating the autonomic side as happens with the rare tryptase gene expansion alters small nerve fibers in connective tissue and produces reciprocal tissue laxity. You can read about the articulo-autonomic dysplasia (also AAD) cycle in my information, the way so many genes and environmental factors interact to cause the many findings and variations of EDS.
Finally, I hope you will use this information to consider your own diagnosis and to work with your local and national EDS groups to educate more patients and physicians about EDS. I learned the value of parents groups when I established a Down Syndrome Clinic that included therapists and parent representatives, and you can see the power of families by visiting the EDS awareness website of John and Deanna Furman, father and daughter of a mother who died without EDS recognition, their site have abundant information and many subspecialty slide presentations on EDS (EDS awareness or chronicpainpartners.com. In that vein, I am ashamed to see the long waits enforced by many genetics clinics for EDS evaluation, so use these websites to find cardiologists, orthopedists, allergists, gastroenterologists, neurologists, and pain management experts who are familiar with EDS: they can both make the diagnosis AND treat your symptoms!
Golder N Wilson MD PhD
Board certified in pediatrics, clinical genetics, and cytogenetics
golderwilson@gmail.com
.
The next page has a description of the information service that describes options for the summary letter and possible referral for disability consideration. If you are interested in receiving the described information package you should email me at golderwilson@gmail.com and I will forward it to you with the introductory letter, medical history/natural-family history/physical forms along with a table of these finding frequencies in 710 EDS patients, discussion of how EDS clinical and DNA findings correlate, an overview of preventive management and therapy for EDS, and an example of my summary letter. The latter table, correlation discussion, overview of therapy, and summary letter example are shown on later pages of this website. If you want me to provide the letter summarizing your natural history, medical history, and physical findings then you can fill out the appropriate forms and return by e- or snail mail, the check for $100 and/or the mailed forms sent to Golder Wilson MD, 5347 W Mockingbird Lane, Dallas TX 75209.
I want to emphasize several points from discussion in the information package and its several referenced publications that make my perspective on EDS unique or heretical, depending on one's viewpoint.
1) Omission of the autonomic imbalance that produces the digestive issues, chronic fatigue, anxiety, and many other symptoms from adrenaline/"fight or flight" stimulation from EDS criteria causes many patients to be written off as psychos or drug seekers, often seeing 9-10 specialists and enduring years without powerful therapies before the correct diagnosis is made. To promote recognition of these symptoms I urge use of "EDS-dysautonomia" or "arthritis-adrenaline disorder (AAD)" as a category diagnosis for the EDS spectrum and similar disorders, a diagnosis that leads to immediate therapies while further medical and DNA evaluation specifies types or non-EDS disease. Criteria for EDS without the autonomic findings of IBS, POTS, and MCAD is like describing an elephant without a trunk, a myopia I describe in my book in progress as ElDS--Elephant Depreciation Syndrome!
2) The long lists of rare types in the 1998 and 2017 consensus descriptions only promote the idea that EDS is a group of rare and extreme disorders that no busy physician has time or competence to address. In fact, my accumulation of 1900+ EDS patients over 9 years suggests that at least 10% of the 10-20% of people with above-average hypermobility by Beighton score have some degree of distress from their reciprocal tissue laxity and dysautonomia. From 42 years of syndrome experience, propose a simple acronym for suspecting EDS shown below:
The IHAVEDS approach:
Injury -- Dislocations/Sprains/Fractures
Hypermobility -- Double-jointed/Clumsy
Allergy-Adrenaline -- Asthma/Atypical medication response
Vascular fragility -- Bruising/Pooling, Aneurysms (rare)
Elasticity of skin -- Stretch marks/Scars
Digestive -- Constipation/Bloating/Reflux
Stress -- Anxiety/Fatigue/Brain fog
First recognize the possibility of EDS, then worry about rare findings and types!
3) "But don't I need to know the type in order to get proper medical care, and what about the dreaded vascular type?" No, recognizing the AAD profile by a complete documentation of tissue laxity and dysautonomia findings as done with my standard forms gives immediate preventive (wise exercise, bracing for hypermobility) and treatment strategies (hydration, salt, lower gluten-dairy, vitamin D, and a panoply of medications for POTS and Mast cell). It is optimal to have DNA testing to exclude collagen type III and other gene findings that can cause vascular or other severe EDS types, but these are extremely rare. At most 1-2 patients among my 1900+ had the vascular or periodontal EDS that conveys risks for aneurysms, vessel dilatations that occur at low rates in any form of EDS (0.56% of my patients with standard exams) and can be screened using imaging that may be better accepted by insurance than DNA testing.
4) Wont the DNA testing tell me my EDS type. No again--the type, like any clinical diagnosis, is made through note of history and physical findings by an experienced physician. Those with classical cEDS have more scarring, those with hypermobility hEDS more complications like subluxations and joint injuries, but view my articles and you will see that the majority of the 120 history and physical findings that I score overlap among these common EDS types. We have known since the first sequencing of globin gene DNA that changes in different parts of a gene can cause different diseases, those in beta-globin ranging from mild anemia to sickle cell, some sickle cell homozygotes (the classic sickle mutation in both gene copies) having no symptoms at all!. The doctor not the DNA makes a disease or type diagnosis, and I see as many hEDS patients with collagen type V mutations as cEDS patients.
5) By all means get DNA testing if you can obtain it for reasonable cost (less than $300 in my opinion). If you have bowel/blood vessel/uterine ruptures, are too young to show those complications, or are just terrified by the vascular ghoul that hangs over EDS, then the simplest test for exclusion is an EDS DNA panel, offered online by Invitae and other companies for as little as $250. I have been and continue to be very enthusiastic about the almost miraculous ability of NextGen-massive parallel DNA sequencing to screen all of our 23,000+ genes for DNA text alterations that alter RNA/protein and cause disease. New gene discoveries in my 800+ EDS patients along range from many muscle-related genes that will make a muscle or myopathic mEDS the most common type to sodium channel and mitochondrial polymerase genes that cause more dysautonomia. As with the tissue laxity to vessel distensibility to lower body blood pooling to decreased cerebral circulation to stimulation of the adrenergic "fight-or-flight" response, activating the autonomic side as happens with the rare tryptase gene expansion alters small nerve fibers in connective tissue and produces reciprocal tissue laxity. You can read about the articulo-autonomic dysplasia (also AAD) cycle in my information, the way so many genes and environmental factors interact to cause the many findings and variations of EDS.
Finally, I hope you will use this information to consider your own diagnosis and to work with your local and national EDS groups to educate more patients and physicians about EDS. I learned the value of parents groups when I established a Down Syndrome Clinic that included therapists and parent representatives, and you can see the power of families by visiting the EDS awareness website of John and Deanna Furman, father and daughter of a mother who died without EDS recognition, their site have abundant information and many subspecialty slide presentations on EDS (EDS awareness or chronicpainpartners.com. In that vein, I am ashamed to see the long waits enforced by many genetics clinics for EDS evaluation, so use these websites to find cardiologists, orthopedists, allergists, gastroenterologists, neurologists, and pain management experts who are familiar with EDS: they can both make the diagnosis AND treat your symptoms!
Golder N Wilson MD PhD
Board certified in pediatrics, clinical genetics, and cytogenetics
golderwilson@gmail.com
About Golder Wilson MD, PhD
I received my MD and PhD degrees from the University of Chicago in 1972, and did residency/fellowship training at Boston Floating Hospital, the National Institutes of Health, and the University of Michigan. I have spent 42 years in academic medicine doing general pediatrics and genetics, becoming an endowed full professor of pediatrics during 14 years at UT Southwestern Medical Center and Children’s Medical Center of Dallas. In 2003, I began a private practice and continued academic work at the Texas Tech University Health Science Centers in Amarillo (Professor of Pediatrics, Obstetrics & Gynecology) and Lubbock (Clinical Professor of Pediatrics), now continuing the latter appointment to help with laboratory administration and genetic education. I emphasized research early in my career and was the first to report cloning of human DNA with my fellowship mentor Roy Schmickel in 1978, going on to conduct NIH-funded laboratory research on ribosomal RNA genes and peroxisomal disorders before focusing on clinical work in 1996. My research knowledge has contributed to a recent book on genomic testing (Wyandt, Wilson, and Tonk: Human Chromosome Variation: Heteromorphism, Polymorphism, and Pathogenesis and to recent article summarizing similarities between the predisposing genes and symptoms of EDS and long COVID19: CIMB | Free Full-Text | A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers–Danlos and Long COVID-19 Syndromes (mdpi.com)
My experience in general pediatrics has directed my genetic subspecialty practice toward promoting the medical home as managed by all-important primary physicians, exemplified by my book Preventive Management for Children with Genetic Conditions: Providing a Primary Care Medical Home, 2nd Edition published by Cambridge University Press in 2006 with developmental pediatrician W. Carl Cooley. This perspective has prompted many articles for physician education including a house staff manual on genetics and development and those written or edited in my role as a member of the Board of Consultants for the widely circulated journals Consultant for Pediatricians and now its parent Consultant. I have also been active in parent education and am proud to have worked with the Down Syndrome Guild of Dallas in establishing and coordinating a Down Syndrome Clinic at Children's Health that promoted a positive image of children with Down syndrome and educated many about their preventive health care. I hope to continue the same with EDS.