- CASE FILE
Ehlers Danlos, POTS, GastroparesisMy friend & I have been diagnosed with these things, but still have mystery symptoms & lack of treatment
ABOUT THIS CASE FILE
My friend and I both have been diagnosed with a condition called Ehlers Danlos Syndrome or EDS. This condition is caused by a genetic mutation that alters the integrity and functionality of a persons connective tissue. As this kind of tissue is found all over the body, it can affect almost any organ system. So far no cure has been found. In fact, all the genetic markers haven’t been found either. There is a large international research project being conducted this year in order to search for and hopefully find the exact genetic mutations linked to EDS. We have been evaluated by an internist and a geneticist who specialize in the diagnosis of EDS. They have collectively seen over 2000 EDS patients and are well versed in its diagnosis. They believe that up to 1% of the US population has this condition and symptoms that severely affect the quality of their lives. They also believe that it is one of the most under diagnosed, under documented, and under treated conditions in the US. At this point my friend and I have been diagnosed, but we are having extreme difficulty finding treatments that will help. One specialist told us that the real hope for treatment is in the CRISPR DNA technology. But it’s is currently far from being able to treat EDS. EDS is also thought to cause other illness, and this further complicates things. In addition to EDS we have been diagnosed with Postural Orthostatic Tachycardic Syndrome (POTS) and Gastroparesis, amongst other things. Many EDS patients have multiple system diagnoses and therefore deal with a host of symptoms. These symptoms can include: hypermobile joints, joint pain, joint subluxation, problems healing, vision problems, headaches and brain fog, abdominal bloating and pain, problems eating and digesting food, temperature intolerance, heart rate and blood pressure abnormalities, fatigue, neurological pain and symptoms, airway issues, chronic pain, and more.
The reasons I believe this condition should be spotlighted on the show include:
1. The true prevalence of this condition is common, yet widely under diagnosed and treated. Doctors and patients need to know this exists.
2. It is linked to international genetic research currently being conducted and the CRISPR technology.
3. My friend and I have families and responsibilities we would love to get back to, but have yet to find helpful treatments, much less a cure. Our lives have been stolen from us and we’d like to get them back.
*I’ve seen several case files already uploaded that sound like eds and some of its coexisting conditions. If you fall into this group take a look at EDS and POTS. These diagnoses may be the direction you need. And if you have these things AND some successful treatments, please let me know. After years of doctors and treatments, I’ll try almost anything.