An EDS Information Packet

NOTE: There is a new opportunity for people with hEDS to register their information at https:///www.ehlers-danlos.com/hedge/ if you want to help with data collection for better management.
Obtain my information packet by emailing golderwilson@gmail.com
You have contacted me to request information on Ehlers-Danlos syndrome (EDS) and related connective tissue laxity disorders. This packet contains 1) history, 2) natural-family history, and 3) physical examination forms for your self-assessment followed by 4) summary of finding frequencies in my EDS patients, 5) general information on how clinical and DNA findings in EDS fit together, and 6) a sample summary letter that for a fee of $100  I could write for you to take to your doctors as discussed below. Those who request a summary letter, have severe impact from EDS as indicated on the lower part of the history form, and have interest in social security disability, I can refer to a specialist although there is no guarantee you would qualify.
The history and physical forms list common findings that were noted in 946 EDS outpatient evaluations and converted into standard forms I used on a subsequent 710 outpatients (596 females and 114 males). You can see the full results in the article: Clinical analysis supports articulo-autonomic dysplasia (reference 1 in the attached information) that includes the summary of finding frequencies attached here. In essence I found that people with more than 10 history and 8 physical findings had EDS by traditional criteria and that women have higher scores than men (more than accounted for by 3 extra points for questions regarding gynecologic issues). Most findings of patients with hypermobile hEDS (more flexibility complications like subluxations, dislocations, and deformations like scoliosis and flat feet) versus those with classical EDS (more atypical cigarette-paper or keloid scars, less hypermobility complications) are similar, the reason I emphasize recognition of a general EDS clinical pattern before considering specific types. 
I found that EDS assessment is not reliable for children under 12 because 1) they tend to be more flexible, 40% scoring > 4-5 on the Beighton scale, and 2) most dysautonomia findings occur in the teen-adult years although early colic and feeding problems, sometimes accompanied by mast-cell influenced eosinophilic esophagitis (EOE), are early signs of irritable bowel syndrome (IBS) and mast cell activation disorder (MCAD). The compromising dizziness, fatigue, sleep disruption, brain fog, and anxiety/racing heart of postural orthostatic tachycardia syndrome (POTS) almost always comes after puberty. If you are concerned about EDS in a young child then use this information to know what signs of EDS to look for, particularly realizing that growing pains usually occur at night and that signs of unusual flexibility in your child merit close attention to their sports activities to see if special bracing or diversion to “wise exercise” is needed to prevent injury.  
Once you determine your total number of history and physical findings you can compare them with the patients summarized in reference 1. Such scores can never make a clinical diagnosis without input from a health professional but they should give you an idea of whether your pattern of history and physical findings fit with my other patients who have EDS. If so, I hope you will benefit from the attached therapy considerations until you find physicians who confirm an EDS diagnosis and tailor your management appropriately. I use the term arthritis-adrenaline disorder or AAD so that dysautonomia findings of dizziness, fatigue, anxiety, shortness of breath, etc. are recognized as part of EDS rather than as symptoms of stress or psychiatric disease. I suggest that you use the terms EDS or EDS with dysautonomia for general communication since AAD and its cyclic articulo-autonomic dysplasia processes are proposed to encourage clinical scholarship and will not be familiar to physicians.
Please emphasize to your physicians and health professionals that their general knowledge of medicine and therapies is more important for your care than specific knowledge about EDS. Once empowered to understand the processes of tissue and autonomic imbalance that produce the EDS-dysautonomia pattern, they can provide immediate prevention and therapy rather than avoiding EDS because they think it is a rare, extreme, and untreatable disease that is beyond their competence. Given the tragedy that so many geneticists avoid EDS patients because they enforce limited clinic hours with long wait times or because they fallaciously think that common hypermobile EDS has no associated DNA changes (see reference 2 of the discussion), you may need to bypass genetics and find knowledgeable cardiologists, orthopedists, allergists-mast cell experts, rheumatologists, or pain management specialists, etc., who can treat your symptoms (this is where EDS patient groups can help).  If you are interested in DNA testing to confirm the clinical diagnosis of EDS, then any physician can order a gene panel that will exclude vascular EDS and other severe forms for costs around $250-$600, sometimes covered by insurance. Whole exome sequencing can also exclude severe diseases and secondary findings like changes in the BRCA genes but is poorly accepted by many physicians and insurance companies, a reason that I stopped coordinating DNA testing (see discussion).
If a summary letter from me would be useful for you to take to your doctors, then let me know by email after you receive this information packet. You can email or mail your medical history, natural-family history, and physical forms, mail a check for $100 to the address below, and I will return a packet with the summary letter, your forms, and the EDS information so you can share them with your physicians. I no longer have the resources to coordinate DNA testing, but I am happy to interpret results as part of this information process.  
In addition to my packet, be sure to take advantage of the information at the EDS awareness website (by a father and daughter of a mother who died with unrecognized EDS) and at national and local EDS websites (If you don’t have a local EDS group and think you are affected, then start one!).
 
I end this introduction with with two important provisos:
This discussion of EDS evaluation and potential therapies plus my potential summary letter are FOR INFORMATION PURPOSES ONLY and cannot be taken as a valid medical diagnosis. I hope they will help you understand and organize your symptoms so you can optimize your health care.
The clinical diagnosis of EDS is most important as discussed in the sample summary letter, DNA testing less important for guiding management. However, DNA testing is the only way to exclude rare and severe forms of EDS like vascular that occurred in at most 1-2 of my 1900+ patients. Those with concerns about vEDS, especially if they have had bowel, blood vessel, or uterine ruptures, should consider an EDS DNA panel or whole exome sequencing, the $250 EDS panel through Invitae able to be ordered online by patients or their physicians.
Sincerely yours,
 
Golder N. Wilson MD PhD  5347 W Mockingbird Dallas TX 75209   golderwilson@gmail.com
Certified in Pediatrics and Medical Genetics