As a child, I was diagnosed with Ehlers-Danlos Syndrome (EDS), although the definitive diagnostic term was not used at that time. I was told by my pediatrician that I was “double-jointed” and had hyper-elastic skin that he liked to stretch, seemingly for amusement.
Growing up and attending good public and private schools, in academically- advanced classes, my “condition” was mostly a curiosity. I could bend my fingers all the way back to my dorsal hands and, with my hands locked together, could twist my arms from behind my torso to the front without letting go! (I was popular in “show and tell.”) Imagine all these contortions without pain – at most, a pleasant stretch.
I did undergo a bilateral inguinal hernia repair at age 4 ½ but no one even whispered any connection with EDS. No one did so regarding my easy bruising and the need for Vit. K supplementation as a child.
As I advanced through life, complications began to develop. Little did we consider correlations with EDS. MD’s tended not to be versed on EDS – other than as a “rare” curiosity, the result of a collagen deficiency within connective tissue. My life in high school became problematic. Digestive and dietary issues became prominent and evolved into severe anoxia. I almost died. Again, no mention of any relationship to EDS.
In my junior year of college, symptoms of severe IBS developed – a condition which has followed me to the present day. Subsequent examinations demonstrated significant GERD; I underwent two more inguinal hernia repairs – the second one being complicated by my urine bladder being pulled into the hernia sac and, upon an attempt at laparoscopic extrication, being torn. An emergency open surgery for bladder repair needed to be executed “on the spot.”
Diagnoses of regular episodes of vasovagal syncope, supraventricular tachycardia have been added to my diagnostic pallet.
My professional life metamorphosed from community and hospital pharmacy to university professor. I moved from instructing undergraduate anatomy and physiology, general pharmacology, nursing math and related courses to graduate instruction of psychopharmacology and neurophysiology. Understandably, I amassed a huge knowledge of physiological (and pharmacological) mechanisms of action; YET, ironically, I never really associated a slew of personal ailments with my inherited hypermobility EDS (hEDS)!
Why did I have no true working grasp of this complicated scenario? Medical professionals simply were not taught sufficiently about EDS and thus were generally uninformed. Research was scanty, at best. Long-term complications, implications and correlations were generally not known and not understood. It has been my experience that – sometimes out of frustration, sometimes desperation, sometimes expedience – when an initial purposeful diagnosis cannot be made, the “medical team” will refer to psychiatry. Such referrals are often inappropriate, may lead to hurtful unjustified over-sedation, for example, and – needless to say at this point – long-term harm to such patients. I submit that such a scenario occurs more often than we’d like to think or believe! (Simply think of, for example, “chronic fatigue syndrome” or fibromyalgia. These are very real physiological syndromes once generally ignored as such and mistakenly shunted to psychiatry.)
Late in life, I was referred to a forward-thinking endocrinologist who recognized my set of signs/symptoms and referred me to Dr. Michael Holick. She knew he was directing a research project at Boston Medical Center on EDS and its misguided designation as “rare.” Dr. Holick and his team were also exploring evidence-driven correlations with EDS complications and implications. Numerous medical colleagues and friends encouraged me to participate.
A stroke of luck for me! It really was not until meeting Dr. Holick and his team that I was able to logically and empirically understand and put into perspective the medical realities of my life (and the lives of others who inherited some form of EDS). I am now versed on the gastrointestinal implications, the dysautonomias, the dermal and other statistically-confirmed complications.
I am now even aware that my difficulties finding the correct shirt size were due to my “Marfan body type”: elongated limbs, as well as other distinctive body features. Who knew? EDS is indeed related to the more serious connective tissue disorder, “Marfan’s Syndrome,” sharing a number of characteristics.
There are at least 13 differently-inherited types of EDS, with varying degrees of functionality disturbances. Some cases of EDS are mild; some are life-threatening. Beyond a doubt, the hypermobility type is the most common. Every type can pose serious issues that must be addressed. As we age, for example, we lose muscle mass. The loss of compensatory muscle mass logically magnifies the hyper-elastic nature of joints and thus makes one more prone to dislocations and subluxations. In turn, spinal abnormalities, such as spondylolistheses, often evolve into radiculopathies with accompanied severe pain and exacerbated mobility issues (i.e. sensory and motor implications).
Many celebrities feel they are now able to publicly disclose their diagnosed EDS. Courageous pioneers, such as Dr. Holick, have given such notables, as well as all of us, the ability to understand our condition and – perhaps even more important – the knowledge to constructively advocate and to seek proper medical attention. Medical schools are now beginning to teach definitive courses on EDS – not simply offer a 10 minute mention during a talk on connective tissue pathology.
Dr. Holick’s 2nd consecutive run in the 2025 Boston marathon – this time to highlight hEDS (and other so-called “rare” mobility disorders) – serves as an inspiration to all of us – in or outside of the medical professions. Insightful geniuses often “step on toes” but, hopefully, their insights are, in the long run, noted and appreciated!
I feel lucky to call Dr. Holick a friend at this point. Knowing such a generous medical professional lends a degree of hope for humanity as it deals with a myriad of evil and corruption!
