I am here today on behalf of tens of thousands of people in this country, including myself and many in this room, who have a genetic, degenerative connective tissue disorder called Ehlers-Danlos Syndrome or EDS. I'm here to inspire your much needed support in putting an end to the senseless death and crippling results of EDS that are a consequence of a missed or late diagnosis. EDS is a rare disorder but certainly not new, it was first described by Hippocrates in ancient Greece, but it has been misunderstood and overlooked by the medical community. Of the 1 in 5 to 10,000 people in this country who have EDS, alarmingly (and why I have to be here today) only 5% of us are getting diagnosed. EDS has slipped through the cracks of the medical community, resulting in lives robbed of quality and productivity. It is estimated that over 1/3 of people with EDS are disabled and unable to work. With proper diagnosis and treatment, this number would be significantly reduced or prevented.
Granted EDS is difficult to diagnose because of its multi-system involvement. Individuals with EDS have a genetic defect in the collagen of their connective tissue which supports blood vessels, muscles, ligaments, internal organs and skin. The manifestations of this disorder are devastating to a person's body. Some individuals have tissue fragility which causes organ rupture and early death, usually before their 40's. Other symptoms include premature joint degeneration, atrophy, instability and dislocations throughout a person's body, as well as abnormal bleeding, tearing and bruising of the skin. The most prominent manifestation for all people with EDS is chronic and severe pain through much of a person's life.
EDS may be overlooked because of the lack of understanding by physicians. It is rarely mentioned in current medical curriculum and physicians don' look for it when differentiating symptoms from other connective tissue related diseases. This could be because EDS does not have a known treatment or cure leading physicians to believe if one can't fix it, don't look for it. Yet the reality is that so much of the destruction to a person's body could be avoided/prevented with an early diagnosis.
Also, it may be overlooked because initially most of us with EDS don't present ourselves in appearance or even under the scrutiny of x-ray as having anything wrong with us. But the instability of the connective tissue system can cause imperceptible changes which results in permanent damage and pain. Because the internal trauma of EDS is so invisible to others, one must have a doctor who has a willingness to listen, to believe in the person and give credence to their pain before an accurate diagnosis can be made. Unfortunately, this rarely happens.
Too often a diagnosis is only made after 3 or 4 generations of premature death or after a person is braced in different parts of their body just to hold themselves together. Too often a diagnosis is made only after one has spent years going from one doctor to another (in my case 30 years) seeking help and answers. Too often a diagnosis is made only after one has had unneeded surgeries or repeated surgeries and treatments that cause irreparable damage or death to people with EDS. Because of one's skin involvement, too often a diagnosis is made only after one has been accused of self-mutilation or one's family accused of child or spousal abuse. And because we are not believed, too often a diagnosis comes after we are told that we are emotionally unstable and should seek psychiatric care. These situations are incredulous to me and I hope that they are to you, but they are an all too common reality for all of us with EDS. Every person with EDS has a horror story.
Researchers believe that specific research on EDS would not only benefit us with diagnostic tools and treatment, but would also benefit understanding of other connective tissue related diseases. And, at the biomolecular level, a better understanding of arthritis and its treatment, of premature membrane rupture and premature births, as well as wound healing in the elderly.
In summary, we urgently need the NIH to earmark funds for ongoing research into Ehlers-Danlos Syndrome and to fund a registry of patients with EDS in order to facilitate accurate diagnosis and treatment.
We thank you for your time, consideration and your support in helping us erase the ignorance about this disorder, helping those with EDS live longer, more productive lives and in turn, ensuring a healthier, more compassionate society.