Webinar 3 of 5

Introduction

[0:08] [Bridget Collins]:

Hi everyone. Thanks for joining us for the third webinar in Dr Peter Rowe’s “Evidence Based Pediatric ME/CFS Medical Education Webinar Series.” I am Bridget Collins and I am the co-chair of ME Action Maryland–a peer support organization for complex chronic illnesses.

Medical Education is very important, especially to those of us who, like me, are living with Myalgic Encephalomyelitis. ME is a multisystem neuro-immune disease that profoundly limits the level of function required for work and activities of daily living.

Our chapter works to help educate and equip medical professionals to recognize, diagnose, treat, and support people with ME and comorbidities. It is our intent that by facilitating these pre-recorded webinars for providers composed of strong evidence-laden presentations by Dr Rowe along with powerful personal accounts relating directly to each topic by caregivers and people who have pediatric ME that we will show a holistic impression of the child presenting the symptoms of ME/CFS.

Our third webinar–“Joint Hypermobility and Ehlers-Danlos Syndrome in Pediatric ME/CFS”--brings connective tissue disorders in Pediatric ME to the forefront. This webinar will define EDS and Joint Hypermobility as well as explain how to diagnose and treat it in people with pediatric ME. It will also include a panel discussion with adults who have Ehlers-Danlos Syndrome and Joint Hypermobility and who became ill with ME in childhood.

Dr. Peter Rowe is a professor of pediatrics at the Johns Hopkins University School of Medicine and the director of the Chronic Fatigue Clinic at the Johns Hopkins Children’s Center. He is the inaugural recipient of the Sunshine Natural Wellbeing Foundation Chair in Chronic Fatigue and related disorders. Dr Rowe is also the author of Living Well With Orthostatic Intolerance–which just recently came out in August 2024.

And we all very much appreciate Dr. Rowe’s decades of research, care and education--especially for those with pediatric onset of ME/CFS. Welcome again, Dr. Peter Rowe.

Dr. Peter Rowe Presentation: Joint Hypermobility & EDS in Pediatric ME/CFS

[Slide 1]

[2:36] [Dr Peter Rowe]: Okay, well, thank you for joining in again today. This is the 3rd in our series of 5 talks about pediatric ME/CFS. This one focusing on Joint Hypermobility and EDS: stands for Ehlers-Danlos Syndrome. Which we find to be an important component in pediatric patients--and also adult patients, as it turns out with this illness.

[Slide2]

[3:03] I don't have any financial relationships to disclose, and we won't be discussing any commercial products.

[Slide 3]

[3:10] And the outline of this talk is shown here. That we're going to talk a little bit about the background on Ehlers-Danlos Syndrome and Joint Hypermobility itself. I want to look at how we came to appreciate an association between these hypermobility disorders and pediatric ME/CFS. And then end with some reasons why it's important to assess for these conditions, both in the clinical care and in research studies of patients with the illness.

[Slide 4]

[3:41] So Ehlers-Danlos Syndrome. The name comes from 2 Danish physicians who 1st describe the problem. And it's a heterogeneous disorder of connective tissues. And it's characterized by varying degrees of stretchiness of the skin laxity and hypermobility of the joints and fragility of the cutaneous tissues, the skin.

Most forms of it result from mutations in genes that encode the fibrillar collagens, or the enzymes that modify collagen.

[Slide 5]

[4:20] [Dr. Peter Rowe] And because that kind of collagen is the strength and the scaffolding really of, and provides the structure to essentially all tissues and organs. By common definition, and with that as the understanding, EDS is gonna have widespread clinical manifestations. Among those are early varicose veins and easy bruising. But in all of the monographs on this topic that I was able to find when we began our work on EDS, easy and widespread pain were said to be common in this syndrome. And at least in the early 1990s, the implication was that this is just part of the syndrome, and there's nothing really to be done about it. We'll come back to that point in a bit.

[Slide 6]

[5:12] You'll often see earlier classifications of EDS as Type I, Type II, Type III, and so on. That was from a meeting in Berlin of clinical experts in this topic. This was revised in the Villefranche, in 1997. And the types of EDS were renamed. The classical type was formerly known as EDS Type 1 and Type 2.

The hypermobile type was formerly EDS type 3. The vascular form had been EDS type 4, and so on.

[Slide 7]

5:51] Then, in 2017, there was a new International classification of the Ehlers-Danlos Syndromes. Where, the, because we've made so many advances in molecular diagnosis the redefinition of the different types of EDS was based on the confirmation of a causative variant or variants in the respective gene.

[Slide 8]

[6:17] So one of the ways that we look for hypermobility and screen for it is shown here. This is the Beighton score after Peter Beighton, who is a pioneering geneticist from South Africa. And this is a 9 point scale, and you can see in picture A in the top. You get one on each finger for being able to bring that finger back past 90 degrees. In B, you see passive apposition, or bringing the thumb to the flexor aspect of the forearm, so that they touch. You get 1 point on each side.

Then in a panel. C, this is somebody who has hyperextension well beyond 190 degrees. So it's the straight arm would be 180. And this is more than 10 degrees beyond that. It's important to measure this with a goniometer which is a little plastic device that can give you more accuracy, and the measurement of that angle.

In panel D, you see that you can get use the same goniometer to measure the angle between the femur and the tibial surface. So you're looking for again more than 190 degrees of hyperextension at the knees.

And the 9th point is shown in panel E. This is the ability to place the palms flat on the floor, bending over at the waist.

So this is a 9 point scale. And people over the years have varied in what they consider hypermobility. At 1 point hypermobility was a score of 4 or higher. In the 2017 criteria hypermobility was said to require a score of 6 or higher in pre puberty. 5 or higher in adolescents and adults up to age 50. And a score of 4 or higher after age 50, and that criterion at the bottom helps remind us that young children are very flexible. There is less flexibility in the adolescent and young adult years. And you lose some flexibility as you get older. These are some of the common subtypes, just to show the genetic basis.

So with classical Ehlers-Danlos Syndrome, you get mutations in the- what are termed the COL5A1, and the COL1A1 genes that create different types of collagen. The hypermobile type of Ehlers-Danlos Syndrome has no known genetic basis. Although people have been looking for this for some time. The vascular form of EDS has mutations in the COL3A1 gene, or the 1A1 gene. And then there are other types of genetic defects in most in all of the other ones. But the hypermobile form.

[Slide 10]

[9:25] [Dr. Peter Rowe] The vascular form of Ehlers-Danlos Syndrome can be lethal. The others generally are not. These patients are often identified by having large protruding eyes, as you see in this picture. Relatively thin lips. Ears that don't have an ear lobe. Relatively thin nose and hollow cheeks. But keep in mind that this is a textbook picture; that often patients will have much milder features early on.

[Slide 11]

[9:59] There are a number of rare subtypes shown here from a book by Anne dePaepe and Francisco Malfait. The boy on the left has what's called the dermatosparaxis type where there are unusual features, there's very prominent lips; scarring around the mouth; a big bruise on the thorax just from minor trauma. The patient on the right has the muscular contractual type. And so there's some again atypical facial features with bluish squares at the whites of the eyes; microcornea; and a relatively long filter, which is this part of the upper lip. So these are patients who are not difficult to identify as having unusual appearances compared to the average healthy individual.

[Slide 12]

[10:58] The hypermobile and classical forms of Ehlers-Danlos Syndrome are probably the most common hypermobile, especially. And one way of distinguishing these is that the skin findings are more severe in the classical form than in the hypermobile form. And you can see those compared in this picture from the 2017 guidelines. Notice in Panel D, that the person has pseudo tumors, masses under the skin. In Panels B and E, you get this, what's called papyraceous scarring, and this comes from the fact that the scars are thin and look like the old cigarette papers that used to be common. and then in Panel F. You can see the examiner pointing out a subcutaneous, nodular or spheroid.

[Slide 13]

[11:55] I want to point out, though, that here's an example of 3 generations of people who have the classical form of Ehlers-Danlos Syndrome. And that dark pigment is a hemosiderin pigment deposited around the knees, and the tibial surfaces. This is 3 individuals. The girl on the far left is the teenager with classical EDS. In the middle of the 2 legs of her mother, and on the far right is the one leg of her grandfather, who's had varicose veins in addition. So, there can be absence of some of these classical findings at an early age.

[Slide 14]

[12:35] This is another closeup of the kind of widening of the skin around a scar anytime there's an incision in the skin the elasticity of the skin wants to pull away so that can lead to problems with wound healing of a suture line, or just this paper-thin appearance of the scars.

[Slide 15]

[12:56] [Dr. Peter Rowe] So in medicine we think of things that are suggestive of Ehlers-Danlos Syndrome when people have a lot of hypermobility of the joints or dislocations of their joints. And also because of the excessive movement of the joints and the trauma that occurs when joints dislocate. You can get a lot of pain as a consequence. In the skin: there's easy bruising of some of the skin can be quite stretchy. You can get the kind of scarring that I've shown you, and patients can have stretch marks at an early age, even without a lot of weight gain or weight loss.

The things that bring on a concern for the vascular form of Ehlers-Danlos Syndrome are when you get organ rupture, typically of hollow organs. And the patients with vascular EDS can present with sudden death. So that it can be difficult to identify before then. They also have very onset of varicose veins. Other features that are common include poor gut motility. So things don't move through the intestinal tract very well. They can have scoliosis or kyphoscoliosis, so abnormalities of the way the spine is held. Chiari malformations or other crowding inside the skull. You can get, as time goes on, with adults, organ prolapse and rectal prolapse is one of the things that will sometimes see.And they can also have things like Temporomandibular Joint disorder as a common feature.

[Slide 16]

[14:35] One of the observations that has been consistent across a number of countries in the pediatric literature on hypermobility is that females are much more likely to meet the study definition for Joint Hypermobility than our males at all age ranges, and you can see that here. In Iceland, for example, at the bottom, among 12 year olds, 13 percent were hypermobile among the boys, and 41 percent among the girls.

[Slide 17]

[15:06] The reasons for this are presently unexplained. So, this is a striking difference between women and men with the hypermobile type of Ehlers-Danlos Syndrome.

[Slide 18]

[15:20] I want to point out, though, that just because one is hypermobile does not mean that this is a disease. On the left is a patient of mine who had been a dancer early on in her life. In her childhood. And the hypermobility of the joints can make you much better at activities like dance, gymnastics, and swimming, because that degree of flexibility allows greater range of motion. On the right is a picture of Anita Knoll, who had been a member of the United States swim team who won gold, silver, and bronze medals in the Barcelona Olympics. In the early 1990s Anita had a very high Beighton score of 7, but did not have, that by itself was not a disease.

[Slide 19]

[16:13] Conversely, hypermobility is sometimes regarded as a benign condition, and the international classification of Diseases-10th edition includes a diagnosis of Benign Joint Hypermobility Syndrome. I would remind us that we ought to ask ourselves, well benign, according to whom. Because not all hypermobility is entirely benign, as you'll see a bit later in this talk.

[Slide 20]

[16:41] [Dr. Peter Rowe] We got interested in an overlap among patients with EDS and a very high Beighton score of 7, and those with ME/CFS, almost all of whom have Orthostatic Intolerance, at least in the pediatric form of ME/CFS where the prevalence of Orthostatic Intolerance is close to a 100 percent in the adults. We now believe that it's close to 90% who have abnormalities in the amount of blood getting to the brain when they are upright.

[Slide 21]

[17:13] We first published a paper on this in 1999. Where we had seen a couple of patients in the clinic who had a diagnosis of Ehlers-Danlos Syndrome that seemed a bit unusual to me, because at the time it was thought that EDS was a 1 in 5,000 prevalence in the population. We looked at our next 100 adolescents seen in the CFS Clinic at Hopkins over a 1 year period. And we identified 12 who met criteria for Ehlers-Danlos Syndrome, and this was done with Irene Maumenee, who's a genetic ophthalmologist, and Patrick Tong, who worked with her. And with Michael Geraght, who's a geneticist who confirmed the diagnosis of EDS in all patients. 6 of them had the classical type. 6 had the hypermobile type. Almost all were female, and all 12 of these individuals had chronic, orthostatic, intolerant symptoms. They had either Neurally Mediated Hypotension alone--which that accounted for 2 of them. Postural Tachycardia Syndrome alone--that was 3 of them. Or both conditions--that was 7 of them. And all of them had an increase in their symptoms when they were stood upright either in the Clinic or on a tilt table test.

[Slide 22]

[18:34] And their median score was 7--these were adolescents--All 12 had joint dislocations, 3 of them needing joint surgery. All of them had acrocyanosis. I'll show you a picture of that in a minute, but it's a dark purple discoloration of the dependent limbs. The most common type of skin hyperextensibility was in the upper eyelid, which you can see in the top picture, there. A number of them had these widened scars, 6 of the 12, and the slide on the right at the bottom shows. An area where a laparoscopy scar for an appendectomy had had dehisced come apart, and needed to be sutured back again by the surgeons, and the second line also dehisced making the surgeons wonder whether the child was picking away at the sutures in some sort of Munchausen Syndrome Type of event where where this was a fictitious problem, but they had failed to recognize that she actually was very hypermobile. And that the reason the wound came apart was entirely related to her Ehlers-Danlos Syndrome.

[Slide 23]

[19:48] Anyone who is hypermobile using the criteria which don't which focus a lot on hypermobility in the small joints of the hands. Can also do a variety of tricks, so we will often ask them, what other tricks can you do with your joints? And the girl in the top left can make all kinds of contortions with her fingers. This girl in the middle is bringing her leg way forward. She can put her leg behind her head. Sometimes you'll see this prayer sign behind the back. The young guy towards the bottom left is not only able to invert his upper eyelids, but also can place his tongue on his nose. Something that is referred to as Gorlin’s sign. And the 2 girls in the bottom right are also doing that one by one.

[Slide 24]

[20:41] These are some of the skin changes you can see, including at the top of the striae and stretch marks that one can get even when there hasn't been a lot of weight gain or weight loss.

At the bottom left is a widened scar that has come apart further apart than you would normally see along a suture line. This is the dehiscence I showed you. One other physical feature that we can see, and people with Ehlers-Danlos Syndrome when they're standing are these little bumps called pisogenic or pressure papules. These are not typically painful, but they represent some fat pads pushing through the fascial plane of the area around the ankle when there's pressure.

[Slide 25]

[21:28] [Dr. Peter Rowe] This is a picture of the acrocyanosis. This is a purple discoloration of the hands. This is a young woman seen after 5 min of standing with my hand as a color contrast. This reflects the real abnormality in venous pooling of blood when people are upright. And on the right is where I have pressed my fingers into her skin. Then stepped back the camera, focused it and taken a picture. And normally you'd see blood flowing back into those areas that have been compressed within 3 seconds. And here about 7 or 8 seconds had passed, and there was still no return of blood. So this is called delayed capillary refill.

[Slide 26]

[22:13] We then went on to ask, well, if we see a lot more joint, a lot more, Ehlers-Danlos Syndrome in our clinic. What about non syndromic Joint Hypermobility? So we looked at whether children with a diagnosis of ME/CFS have a higher prevalence of Joint Hypermobility. And so we looked at 58 new patients who are coming back in for follow up, and 58 healthy individuals.

[Slide 27]

[22:39] And what you see on this chart is that these patients came from what looked like different populations. The healthy kids in yellow had a distribution of Beighton scores where their medium Beighton score was a 1. Of those who met our criteria in this study of a Beighton score of 4 or higher for hypermobility, 24% of the healthy patients were hypermobile. Again, they weren't necessarily sick and didn't necessarily have problems. But when you look at the ME/CFS patients 60% had evidence of Joint Hypermobility with a score of 4 or higher. And again, it looks like these are completely different patients. The odds ratio, the odds of having Joint Hypermobility—if you had a diagnosis of ME/CFS was 3 and a half—and that was a very significant statistical difference.

[Slide 28]

[23:41] Others have followed up that, that initiative observations in 1999 and 2002 in a much more elegant fashion. Inge de Wadele is a very productive Physical Therapist in Belgium and she looked at 80 that had the hypermobile type of Ehlers-Danlos Syndrome. They reported Orthostatic Intolerance symptoms in 94% of the cases. She used an autonomic survey to look at autonomic symptoms. And again, the EDS patients had higher scores than the controls in a very significantly different manner. They're more likely to develop Orthostatic Intolerance during a tilt table test. And Postural Tachycardia Syndrome was the most common type of Orthostatic Intolerance that was seen in that group.

[Slide 29]

[24:33] Inge's autonomic symptom profile scores show on the, on the right. The difference between the patients with the hypermobile type and healthy controls. And you can see that not only Orthostatic Intolerance, but a number of vasomotors, secretary, gastrointestinal problems were there, and these included things like excessive sweating. On the left you see the hypermobile type versus the classical type. So the hypermobile patients were a bit more likely to have some of these other GI disorders.

[Slide 30]

[25:10] [Dr. Peter Rowe] So others have looked into this question of the association between Joint Hypermobility and ME/CFS. One study from Belgium found that the healthy people in their study, 4% of them, fulfilled the criteria for generalized Joint Hypermobility versus almost 21% in their ME/CFS Adult group. Jessica Eccles in the United Kingdom looked at 63 adults who met criteria for either ME/CFS or the related condition fibromyalgia. And whether they, and if they had an age and sex-adjusted Beighton score. It met study criteria that significantly predicted the presence of ME/CFS as defined by the Canadian criteria or the Fukuda criteria. Notice that her odds ratio of 3.7 is very close to hours of 3.5. I've only found one paper published recently by the group in Chicago in pediatrics that suggested there was no relationship between Joint Hypermobility and ME/CFS, but this one had some fatal methodologic flaws. They did not use a goniometer to measure Joint Hypermobility. They were just eyeballing it. And they used a truncated 7 point score, but still required a score of 4 or higher. I would argue that if you're going to use a Beighton score that's unvalidated and has a smaller denominator you also need to change the numerator. So I think that study has to be disregarded because of its truly fatal methodologic flaws.

[Slide 31]

[26:54] We wondered whether the presentation of ME/CFS is influenced by the presence or absence of Joint Hypermobility. So from one of our cohort studies which had 55 patients in it. We've divided the group into 27 who had a Beighton score of 0 to 3. And 28, who had a score of 4 higher. We had initially thought that the presence of Joint Hypermobility would make for patients having a younger age of onset; more likely a gradual rather than infectious onset; that they would have worse symptoms; it would more be more likely to have Orthostatic Intolerance; and that their health-related quality of life would be worse. However, we saw no differences between these. And so it may be that the Beighton score is not a good enough reflection of underlying tissue laxity. Or it may be that the measure of connective tissue in the joints misses what's there in the blood vessels and the nervous system. It could be also that this study was just too small to identify a difference.

[Slide 32]

[28:09] And a much larger study done by Linda Van Campen and Franz Visser in adults looked at a hundred adults who met their criteria for hypermobility. And another 100 ME/CFS patients who are not hypermobile. And when they looked at the amount of blood getting to the brain, using their extracranial doppler techniques, those who are hypermobile were much more likely to have more impressive reductions in brain blood flow than were the non hypermobile patients. So this is still an area that requires more data and more investigation.

[Slide 33]

[28:43] When you think about what is the mechanism for an association between Joint Hypermobility and Orthostatic Intolerance, we had initially proposed that if you've got connected tissue laxity that you can measure in the joints with the Beighton score then you've also got connective tissue stretchiness in the blood vessels. So when you're standing and you dump a column of blood into the lower half of the body that leads to more blood pushing out on these vessel walls that are stretchier, much more blood getting dumped into the lower half of the body, and then that led to diminished return of blood to the heart, and to Orthostatic Symptoms and signs. Others have proposed that physical inactivity, as a result of joint dislocations and pain, maybe disabling due to associated anxiety, depression and a somatosensory amplification state. This may lead to secondary hypersympathethic responses triggered by fear of pain on standing. I think this one, while in the literature, has very little basis in clinical reality. And we don't find that people fearing or fear pain on standing. So I think this is an unlikely explanation. Others have found evidence of peripheral nerve damage that leads to poor vasoconstriction. Still others have wondered about excessive mobility of the cervical spine, due to stretchiness of the ligaments that keep the spine in place, leading to compression of the spinal cord and autonomic symptoms. And in support of that there are a number of papers showing that patients with Ehlers-Danlos Syndrome can have instability of the ligaments at the base of the skull and that when they are treated and fused surgically they have improvements in a variety of these symptoms. We also know that Mast Cell Activation Syndrome is much more common in those with Joint Hypermobility and Ehlers-Danlos Syndrome. So mast cells release histamine which can aggravate Orthostatic Intolerance. So those are a number of the proposed mechanisms. But there may be other shared factors that where there is something else that drives this association together with Joint Hypermobility.

[Slide 34]

[31:12] I mentioned earlier that hypermobility is not necessarily benign, and so, along with the articular or joint pain which can be chronic, these are some non-benign, non-joint disorders associated with Joint Hypermobility. So there is a higher prevalence of anxiety. You can get carpal tunnel syndrome. You can get the Chiari malformations and the spinal instability I was just mentioning. Chronic pain is not uncommon. These are some of the gastrointestinal problems, including really severe constipation. The dural surfaces, the dural tissues that keep cerebral spinal fluid in place, can be thinned out and can lead to spontaneous leaks of spinal fluid that can cause terrible headaches when people are upright. Patients with EDS and Joint Hypermobility can have a high hernia. Mitral valve prolapse. They can get pelvic congestion syndrome that I'll show you more of in a second. They can have pelvic organ prolapse. Scoliosis and other spinal problems. The Temporomandibular Joint problems I mentioned, and another form of chronic pelvic pain for women called Vulvodynia.

[Slide 35]

[32:28] [Dr. Peter Rowe] Among the reasons we think it's important to look for EDS and Joint Hypermobility in the clinical care of those who have ME/CFS: One is to improve general clinical management; a second is to detect the rare forms of the Ehlers-Danlos Syndrome, such as the vascular form of EDS; then the 3rd is to ensure provision of appropriate physical therapy care. These are patients who you don't want to have overstretched. They need a stability of the muscles to improve around the joints to keep them in place. And many of our patients have said that it's helpful to have a unifying for their different problems.

[Slide 36]

[33:13] I’ll give you an example. Here's a 16 year old that we treated in the past who had Ehlers-Danlos Syndrome, ME/CFS, Orthostatic Intolerance, and she had a 2 year history of a disabling lower back pain with pelvic pain, and the pain was worse as the day went on. It would get worse when she urinated and when the back pain was present. Also during her menstrual cycle. And as a result of this pain that would get worse when she was upright, she was unable to tolerate sitting in school. So they let her sleep—or not sleep but lie on a mattress—to participate in the class discussions. Her lower abdominal area would get distended as the day went on, and multiple consultants had looked at her from an orthopedic and neurosurgical standpoint. And our X-rays and scans were negative. She didn't respond. This pain didn't respond to birth Control pills or a variety of different pharmacologic and nonpharmacologic pain treatments.

[Slide 37]

[34:17] But what she had was a thing that used to be called pelvic congestion syndrome, now called pelvic venous insufficiency. Where women would get pelvic heaviness or pain with long periods of standing. Again, worse at the end of the day, after they'd been upright; worse with their periods. And among the symptoms they would typically have reported were fatigue, bladder urgency, and pain with intercourse.

This syndrome proved to have a strong association with varicose ovarian veins, and the ovarian veins go uphill in the abdomen. So it makes sense that they would get distended and stretched and cause pain. when people are upright for longer. Fortunately using interventional radiology through a catheter you can put in some coils and chemicals that lead to an embolization of these varicose veins. Basically, they shrink down. And are taken out of the circulation.

[Slide 38]

[35:15] Here's an example of a catheter are going up through the right groin. It crosses over into the left ovarian vein, and they inject contrast. And you can see that instead of a single vessel, you get multiple tangles of vessels that are refluxing into the internal iliac veins. They cross over to the right side, which the contrast should not do, and you can see big, varicose, duplicated veins here.

[Slide 39]

[35:44] That. Here's an example of another finding that has been associated with Ehlers-Danlos Syndrome, and a Pelvic Venous Insufficiency. And that is that you can get a May-Thurner Syndrome where the left—sorry, the right iliac artery compresses up the underlying left common iliac vein, and leads to a left leg swelling or less blood getting back up to the heart and brain. And this was a study done in, at the Mayo clinic in Arizona by Grace Newton and supervised by Steven Smith, a pioneering interventional radiologist.

[Slide 40]

[36:28] [Dr. Peter Rowe] Steve also did a study where he looked at people that he treated as an interventional radiology practitioner for their pelvic venous insufficiency. And I wanna bring your attention to the items on the left, this was an Orthostatic Hypertension questionnaire before the treatment 51% of patients seem to have—or sorry 49% of patients had a high score on this scale. After the treatment of either the May-Thurner or the pelvic venous insufficiency that dropped to 13, and he has a number of other papers showing these marked improvements of symptoms that might get confused with ME/CFS.

[Slide 41]

[37:12] Others have shown that hypermobility is associated with vascular compression syndromes. One of them is Median ligament syndrome, where you get compression of the celiac artery, and the celiac nerve, and the celiac plexus. And that can lead to terrible postprandial pain. Nutcracker syndrome involves compression of the left renal vein, so the kidney itself can get a bit swollen, and that can occasionally be blood in the urine. But these are patients with a lot of left flank pain. Superior mesenteric artery syndrome can also be both; can also compress the duodenum and lead to nausea and bloating. We've talked about May-Thurner and the pelvic congestion syndromes. So we've actually had several patients who have all of these at once. And that, I think, is not an accident because of their underlying connective tissue disorder.

[Slide 42]

[38:09] We talked about Mast Cell Activation Syndrome and some have proposed, as Lawrence Afrin has done, that when mast cells release enzymes that are capable of breaking down proteins that can aggravate hypermobility. But we think that mass cell problems are more likely in those who are already hypermobile, and the reasons for this are as yet unclear.

[Slide 43]

[38:37] But these are some pictures of the skin in our patients. Here's somebody with a lot of facial flushing and blotchy rashes of her upper neck. Which is what this young woman has on her neck and her clavicle area. This patient has a large area of hives on the legs. And then others have the this erythema and flushing of the face, the ears, and the upper chest. So we often can identify mass cell activation based on these skin findings of flushing, redness, hives. And the patient here has dermatographia here, where we've run our finger along the skin, and you get this big red reaction, though from histamine release.

Among the things that patients with Ehlers-Danlos Syndrome can develop is that if you can do all these tricks with your hands, your hands might really hurt when you write and try to grip a pen. So, for those patients, we often use either or plastic rings to stabilize the joints. They might need wrist braces. And they might need the option of typing their assignments with keyboarding rather than with pen and pencil.

[Slide 45]

[39:58] [Dr. Peter Rowe] So, we talked about the reasons to look for Ehlers-Danlos Syndrome and Joint Hypermobility in the clinical care of our patients. But also in research studies it would be important to accurately describe the clinical features of the study populations; and it could reduce the biased assignment to subgroups in studies of pathophysiology; and also is likely to help reduce enrollment of non-responders in treatment studies; and we think also this can prevent incorrect causal inferences. Let me give me some examples of those.

[Slide 46]

[40:33] So, for example, if you took patients who had undifferentiated ME/CFS, you might randomize them to an intervention of one sort or placebo, and you're looking at the outcomes. But if they got, if they had Joint Hypermobility with a Chiari Malformation or cervical spinal instability. Not, no matter what medication you're giving them, those problems will not disappear. So you really need to detect these things beforehand, prior to randomization to a pharmacologic agent or not. Similarly, if one had ovarian varices, as you see in the top left picture. That patient is unlikely to respond to a medication. So, stratifying people based on these kinds of conditions that accompany ME/CFS would be important. On the top right picture, you see somebody with bulging discs pressing on the spinal cord. When we replace those bulging discs her apparent ME/CFS symptoms resolved.

[Slide 47]

[41:44] I want to end with about prognosis in Ehlers Danlos Patients. And this goes both ways that some people are said, “Aren't you lucky that you're so flexible?” “You're not going to have high blood pressure. You're not at risk for a stroke.” Well, that's not very comforting if the person is in persistent joint pain and has other problems related to their EDS. On the other hand, not everybody with EDS is is disabled or impaired. And so here's an example of a 16 year old, who had been a dancer and swimmer. Quite healthy. She started getting lightheaded at the around the time that she developed her 1st period at age 12. And when we tested with a standing test, her heart rate went from 78 to 125—so a really dramatic increase in her heart rate. And her blood pressure dropped from 104 systolic to 84 systolic, and she was near fainting at 7 min when we stopped the test. She had a very high Beighton score, consistent with hypermobility, and she had a number of the other features we see in EDS blue sclera, the Gorlin sign where you can touch your tongue to your nose, and something called snapping scapula syndrome. Overall in 2010 when we 1st saw her she reported an overall wellness score of 40 out of 100, where 0 means dying and a hundred means as good as you could imagine feeling.

[Slide 48]

[43:12] Well, over the next 2 years, treated with physical therapy, salt and fluids, and medications directed at her Orthostatic Intolerance, and she improved gradually. And after 2 years she was able to resume dancing and could hike for 6 miles. She joined the ROTC on campus. And she could do 72 sit-ups in 2 min, 38 push-ups in 2 min, and could do a 2 mile run. And by 2 and a half years in she was off all of her medications, which then allowed her to be approved for military service. And you can see that she's overjoyed with that outcome on the right. I don't mean to suggest that this is the course for everybody, just that with attention to all of these Comorbid problems those with EDS can improve. We need to remind ourselves, though, that many people with EDS are—can be—disabled, and we need to have much better medical treatments for these individuals to help them function better.

[Slide 49]

[44:16] I'll end with a couple of resources that Ehlers Danlos Society is a patient advocacy that has very good summer conferences. And if you go online, you can often see talks from previous conferences that cover many of the different topics within Ehlers-Danlos Syndrome. Ehlers-Danlos Syndrome Awareness is another group that has very good speakers, and talks on a variety of topics of importance to EDS.

And then, if you want to look at the 2017 redefinition of Ehlers-Danlos Syndrome that's in the American Journal of Medical Genetics. So the entire issue is on the 2017 classification. And if you need ideas about physical therapy, orthopedic complications or other complications of EDS, they're covered in those articles.

[Slide 50]

[45:04] [Dr. Peter Rowe] I'll end by thanking those who have made our work in this sphere possible. Especially the Sunshine Natural Wellbeing Foundation, who endowed a professorship. The Boies Family and the Caldwell Family Endowed Funds. We've had the luxury of working with a volunteer research coordinator Colleen Marden in the early years. More recently with full time Nurse Renee Swope. And others. We've had terrific summer students. We've had fundraisers by people like Emily Steffensmeier, who you see in the bottom right along with my physical therapist colleague, Rick Violand. And the Rowe’s Research Runners group that has a fundraiser every fall. And many, many other families and patients who've been very generous and contributing to the important work that goes on in any ME/CFS clinic.

So I'm going to stop there and remind people that we have 2 more talks in this series. One on Biomechanics and another on some of the Neuroanatomic problems that are a small subset of our patient population. So we'll cover those in the next couple of months. Thank you.

Lived Experience Panel

[46:20] [Bridget Collins]: Thank you Dr. Rowe. A link to resources cited by Dr. Rowe will be included in the description below the video. And questions can be submitted to Maryland at MEAction dot net.

Now I am thrilled to introduce a former teacher turned disability advocate, Ashley Michels. Ashley was diagnosed with M.E. three years ago but has been living with the symptoms for about five years. Since she became bedbound in 2021 she has been diligently working to educate herself, fellow patients, and doctors about M.E. and its comorbidities.

[47:00] [Ashley Michaels]: Thanks Bridget.

Hello, I am Ashley Michaels and I will be facilitating today's lived experience discussion. This panel contains discussion that may be difficult for some viewers. Content warnings include: stereotypes, discrimination, ableism, sexism, racism, and childhood illness. ME affects people of all ages, genders, races, and socioeconomic backgrounds, though it is more frequently reported in women. Black, indigenous and people of color are less likely to be diagnosed, even though all racial backgrounds show comparable prevalence. The prevalence among transgender and gender-diverse people has not been thoroughly studied.

We will now transition to the lived experience of people with Ehlers-Danlos Syndrome and/or Joint Hypermobility.

People with ME and EDS and/or Joint Hypermobility experience a wide range of symptom severity and this panel is not representative of all experiences. Today we are joined by two fellow patients and disability advocates Sally Stardust and Jacqueline Boxxx. As a part of their advocacy, Sally and Jacqueline make a point to use their assistive devices, including canes and wheelchairs, while performing. Welcome Sally Stardust and Jacqueline Boxxx. Thank you for joining us today.

Thank you. Thank you for joining us. I was going to clarify for the audience the reason you're going by your performance names is because this is like an event. This is a public event and that's how you are seen. So that's why we'll be referring to you as that. For any confusion some doctors may have. So do you mind just introducing yourselves and kind of just sharing some of the different diagnoses?

[48:52] [Sally Stardust]: I'm Sally Stardust. My pronouns are they, them. I'm a burlesque dancer who lives in the DMV area. I have hypermobile Ehlers-Danlos Syndrome. I have dysautonomia, Small Fiber Neuropathy. POTS, autism, ME, oh, and MCAS.

[49:20] [Jacqueline Boxxx]: I am Jacqueline Boxxx. And I am a burlesque performer also in the DMV area. I have hypermobile Ehlers-Danlos syndrome, hereditary alpha-tryptasemia (H-A-T), which is a subset of MCAS. I also have chronic fatigue syndrome. And I have Dysautonomia, and interstitial cystitis and that’s everything.

[49:55] [Ashley Michaels]And I'm Ashley Michaels. I'll be facilitating our discussion. I have ME, POTS, MCAS, mold toxicity, fibromyalgia, heavy metal poisoning.

How does that and others enjoy hypermobility affect you every day?

[50:16] [Jacqueline Boxxx]: I experience dislocations and subluxing, which is kind of like a partial dislocation in a lot of my joints on a regular basis. It can happen from, like, seemingly very simple things like just breathing too deeply sometimes will, like, sublux a rib, or like setting my foot down on the ground means that, like, if it's slightly the wrong angle, then my ankle might slip out of position. It's just impossible to know exactly what movement is going to cause something to slip out of position.

[50:55] [Sally Stardust]: EDS causes chronic pain due to the fact that your muscles are trying to compensate for the fact that your connective tissue is not holding your joints together. So there's a lot of muscle tension and muscle pain around the joints, around places where you dislocate frequently, things like that. My hands—they're useless!! There's no resistance at all.

[51:21] [Ashley Michaels]: Mm-hmm. Yeah.

[51:22] [Sally Stardust]: And like, it hurts. It's hard to, like, flush the toilet. I can't, like, do the dishes. It's hard to write physically

[51:30] [Jacqueline Boxxx]: EDS has, it's like this kind of, like, network where it touches so many different parts of you that you never thought of as having connective tissue. But you realize like, oh, wait, that would be affected too like. Just one small example is that I have issues, um, swallowing sometimes. Like the connective tissue, like, around the swallow reflex like that muscle isn't as strong as it should be. So I'll get, like, food stuck in my, like ,right halfway down my throat and then I'll end up getting hiccups. So I get hiccups pretty much every time I eat.

[52:08] [Ashley Michaels]: What were some of the initial symptoms that you were experiencing that helped lead to your diagnosis?

[52:17] [Sally Stardust]: I, like, look back at my childhood and there's so many signs like I was diagnosed with tendinitis like 20 plus times as a child in like my knees, my feet, my elbows. I like couldn't ride a bike because it hurt too much. I couldn't run like all of these things and people just thought I was like being lazy or something. So I was in a car accident when I was 14. I was rear-ended like two times in the span of two months. And I just had a world of symptoms. I like suddenly couldn't sleep. I was in constant pain all the time in my entire body. I couldn't eat. I was like throwing up a lot. And that led to what felt like every medical test that exists, but probably not. And they told me that I had fibromyalgia. And then when I was in my 20s, which is like almost 15 years later I was talking to a friend about how I was trying to do rock climbing, but I kept hurting myself. Like my shoulders kept getting hurt constantly and I couldn't figure out why. And she was like, well, have you heard of EDS? And that's when I looked it up and I was like, oh, it's not normal for your joints to like dislocate constantly. I did not know that. How are you supposed to know that if it's your whole lived experience and no one says anything?

[53:44] [Ashley Michaels]: Yeah. I understand.

[53:45] [Sally Stardust]: And so we got diagnosed with EDS at like 27.

[53:49] [Ashley Michaels]: How about you, Jacqueline?

[53:54] [Jacqueline Boxxx]: So…I had always been extremely bendy, like to a point that everybody commented on it. I started dancing when I was like three or four years old. And you know immediately like everybody was like, oh, you were born to be a dancer. Look at how bendy you are. So like, and I could do all of these things that like, I would call, or my parents would call like the party tricks where like

[54:27] [Sally Stardust]: Mm-hmm.

[54:28] [Jacqueline Boxxx]: Yeah, like I’d push my shoulder blades out of socket and out through my back and they would look like wings, or I could like bend my legs all the way over my head, and all of these things. And so there was always that kind of like something is different about my body than other people, but it was like praised at the time.

[54:46] [Ashley Michaels]: Mm-hmm.

[54:48] [Jacqueline Boxxx]: Then I--me and my then boyfriend, now husband--were walking across the street in the crosswalk and a car turned and hit us both. In the crosswalk. And he went flying, went one way and I went flying the other, and it broke my leg in like three different places. And I just wasn't healing. All of the tissues wouldn't come back together, because they were already so fragile and flexible that it was like very difficult to get them to heal back together. They just stayed broken. And, you know, doctor after doctor was trying to figure out what was going on. They gave me surgery on one of my knees and then that just made it worse, because again, you're cutting like very fragile connective tissue and it doesn't heal. But I was talking to my mother about all of this. And my mother says, well, you know, back when I was a teenager, a doctor told me that I had EDS. Do you think maybe that might have something to do with this? To her defense, like at that time they had no idea what EDS was like they had no conception of like how much it could affect you. But when I brought that up to my rheumatologist, she was immediately like, oh, absolutely, that is what's going on. Like you have EDS. She sent me to a geneticist and between the combination of those two. I finally got a diagnosis. Just like Sally, very late in life.

[56:25] [Ashley Michaels]: Jacqueline, since you were the one that were connected to it first for the next one, so you said we were going to ask about family members. So your mom has EDS so

[56:29] [Sally Stardust]: Yeah.

[56:30] [Ashley Michaels]: Is there anyone else or it sounds like she just has had to struggle with it

[56:32] [Jacqueline Boxxx]: Yeah. Yeah. She was a dancer too. She was majoring in dance like that was her she was getting her degree in dance and her knees gave out like during her junior year of college and she had to completely change her whole life path because they were like, this isn't going to get better. It's going to keep happening.

It's funny how like my me getting my diagnosis now and learning to live with it, as opposed to like in spite of it or in competition with it, like that i think has been an inspiration to her. And like she has now started trying to take care better care of her body and work with it more, because she's seen like oh you know my daughter has this condition and like she's taking it seriously. Like maybe I should take it seriously, too. And not just view myself as you know, lazy, weak, or you know like something that she NEEDS to push through all the time.

Since, you know, that diagnosis, we found out that at least one of my siblings is confirmed with EDS. We think essentially that my grandmother on my mom's side had EDS. She also had very poor wound healing. She had a lot of issues with her knees and her hips. And then it's combined in different ways into my aunt and my mom having different manifestations of this kind of generalized Joint Hypermobility, laxity, all of those issues.

[58:14] [Ashley Michaels]: Just fascinating how genetic it like obviously is for a lot of people. Sally, how about you? Any other family members?

[58:21] [Sally Stardust]: My mom has been diagnosed with fibromyalgia. And my dad's joints are crazy hypermobile. Like if he does this with his arm, it is like a clear like this angle like

[58:35] [Jacqueline Boxxx]: Oh, hmm.

[58:36] [Sally Stardust]: It's very obvious that he has hypermobility. So I suspect that maybe I got it from his side of the family.

[58:42] [Ashley Michaels]: One thing I wanted to echo that you had mentioned, Sally, that I think a lot of people, and I relate to very heavily is you don't know when it's not normal, when it's been your normal. Like my parents, there's some things they're like, why didn't you tell us this? Why didn't you tell us that? So I had signs for also longer than I realized. And I was like, oh, my neck always hurt. You mean your neck doesn't constantly hurt all the time? So I think that’s something everyone can learn from, because it is when it's more normal—but not everyone else’s normal—you really just don't know. And it's like the blame goes on you and what you're saying, like you're lazy or these things. And it's like, no!

[59:21] [Ashley Michaels]: So are there ways that you feel like your EDS and Joint Hypermobility impacts or complicates your ME?

[59:29] [Sally Stardust]: Definitely complicates it. Like, I was diagnosed with ME around the same time. Well, they called it CFS at the time, but I was diagnosed with that around the same time they diagnosed me with fibromyalgia. So when I was a teen. And…I think it's complicated in the sense that I cannot tell when my, like. joints are making me tired.

[59:55] [Jacqueline Boxxx]: Hmm.

[59:56] [Sally Stardust]: And it's like, and I'm not just tired from the ME. But…Other than that, I'm not really sure. I think my body is just like working really hard to hold itself together and that maybe contributes to the ME.

[1:00:12] [Jacqueline Boxxx]: The feeling of being in pain in itself, like the pain saps energy from you. So like that energy drain, it makes you feel like you're like moving through the world in this kind of like molasses air. And that's exhausting.

So, prior to having COVID, the first and thankfully only time that I have had it. Prior to that, I definitely had a lot of issues with fatigue, but I always I always assumed that they were related to pain, of just the experience of waking up every day and knowing that there would be pain the second I started moving. That doesn't make you want to get up

[1:00:53] [Sally Stardust]: Yeah. That's what I meant. It's hard to tell the difference.

[1:00:58] [Jacqueline Boxxx]: I'm being looked into for long COVID in addition to everything else that I have going on. Because, um I feel like there's this like there's this wibbly, wobbly Venn diagram that is like ME, chronic fatigue, long COVID, dysautonomia, and like all of these things are so like wrapped up in each other that it's really hard to untangle what is coming from what.

[1:01:28] [Sally Stardust]: Yeah, I actually had a really similar experience to Jacqueline where the second time I had COVID, I think, I ended up getting long COVID, which we now realize. But it like kind of showed itself as me unable to wake up--like no alarm would wake me up. I could not wake up. I couldn't stay awake during the day.

[1:01:50] [Jacqueline Boxxx]: Mm-hmm.

[1:01:51] [Sally Stardust]: And I also couldn't think. It's like I was stupid. Like I just couldn't, I couldn't do my job. I couldn't answer texts. And I just, like, could not exist. I was just, like, a sleeping person that wasn't resting. Somehow. And yeah, that's when my doctor decided to put me on LDN and it totally changed my life.

[1:02:11] [Jacqueline Boxxx]: Low dose naltrexone—which has made me a functioning human again. Thanks to LDN. I now am able to, I think, manage my energy levels much more, in a way that is more normal for someone with all my conditions—which is not anybody else's normal, but is normal for me.

[1:02:35] [Ashley Michaels]: What modifications and accommodations to activities of daily living have been the most helpful for managing your EDS and Joint Hypermobility symptoms?

[1:02:47] [Jacqueline Boxxx]: Mobility aids have been huge. I pushed back against needing them for a very long time, which I'm very frustrated with past me about like about. Because there was so much internalized ableism of just like, this is not for me. This is for real disabled people. And I'm not a real disabled person. So I was like, I'm just going to push through it. And still, I was like, I'm not a real disabled person.

And then through a combination of like friends and family members, I got my first wheelchair. And it changed everything. Like all of a sudden, I was able to go out with my family and friends and like enjoy myself and not be so paranoid about like when my body was just going to give up. It meant that I was safe. And so when I did feel like I was going to collapse, I didn't hurt myself even more. And it gave me dancing back. Because now I can dance using my mobility aid. And I'm not pushing my joints to the point that like they are permanently damaged as a result of wanting to dance. So, now you have a manual chair, a power chair. And I use a cane regularly. So those are my main mobility aids. And I vary between them depending on the intensity of my pain or the activity that I'm doing.

That is…if I can like say one thing to people who are just discovering that they have EDS and Joint Hypermobility is: You don't need a doctor to say you are allowed to have a wheelchair; you are allowed to use a cane. Like you do not need to wait for a doctor to say that. it was world changing when I started using those things.

[1:04:47] [Sally Stardust]: Yeah, very similar um, I have a rollator walker that I use now that I got back in December and it has just totally changed my life. I had no idea that I could walk without so much pain and like I can sit instead of having to stand in lines because my rollator has a seat right there. And then it transforms into a wheelchair. So if my legs are hurting too much while I'm out my partner can push me.

And then I also have a manual chair for like really high pain days or days where my legs just feel really unsteady. And I'll use that. I want a power chair, but I don’t have one. And then I use a cane around the house and then for like little errands, like if I'm just running into a store to grab like one thing, I'll use my cane. But if I'm doing like a whole grocery shop, I use my rollator. And it's, yeah, totally changed my life. I really wish I hadn't spent so long convincing myself that I didn't really need them or that things weren't bad enough for me to use them because I didn't do or didn't enjoy. Because I was in pain or in had to leave early and didn't get to actually do the thing I showed up for.

[1:06:11] [Ashley Michaels]: I'm trying to get a power wheelchair too. That's, i think, would be amazing if those became more accessible for everyone that these mobilities are more of a permanent thing we need in order to have a higher quality of life. If I could have a mobility or if I could have a power chair, I'd be able to go out to the park independently and I could probably start volunteering, you know doing more. And maybe doctors can understand that a little bit more too, that we are like doubting ourselves or questioning it.

[1:06:39] [Sally Stardust]: And this is obviously like a big issue if Jacqueline and I both experienced it. So I really hope that people watching this get that message that like if they feel like they need something to help them, just get it. Don't wait for someone to tell you that it's okay.

[1:06:45] [Jacqueline Boxxx]: I really appreciate when an event, when a building, when anybody has like a safe retreat area, that's meaningful. That kind of accommodation is crucial having somewhere to rest while you are out and not just having to leave when you need to rest.

Definitely meds are huge. LDN, obviously, as we said, has been huge. And, you know, I have a host of other medications that I use to manage my symptoms. For my um like mast cell issues, Xolair has been a huge, huge help.

[1:07:38] [Sally Stardust]: Aside from mobility aids, yeah, meds obviously and like I use like loops when I go in public to lower stimuli, which helps with my fatigue because I'm not processing as much all the time when I'm out in public. So I have more energy later for like talking to my partner and things like that.

[1:07:57] [Jacqueline Boxxx]: Both Sally and I do like physical therapy exercises like on the regular to try to strengthen the muscles around the joints to prevent some of those dislocations and subluxing. So there's a lot of like preparatory work and maintenance that goes into having that condition to try to reduce the likelihood of those things.

[1:08:22] Sally Stardust: So there's a lot of muscle tension and muscle pain around the joints, around places where you dislocate frequently, things like that. And so I tend to like try to work those muscles out with like a foam roller pretty regularly or something like that.

[1:08:42] [Jacqueline Boxxx]: There's a lot of hypervigilance, but then there's also a lot of being, um, having grace with yourself because you can't prevent every single, every single dislocation or subluxing. It's just impossible. So also being very forgiving and kind to yourself and understanding that sometimes you'll have to cancel plans that you made because an accidental sublux or dislocation means that your pain has increased too much to do what you previously thought you'd be able to do.

[1:09:20] [Ashley Michaels]: And I love what you said about giving grace. Ooooh, that's hard. That's so hard and it's hard not to like get frustrated at your body, like mad at your body. Like it's almost something else instead. And then you, but you can't do it like that or you…It's not going to work.

[1:09:36] [Sally Stardust]: Or I mean, I definitely…I slip up a lot and like, I'll just get frustrated with myself. But it's so important to practice, like, self-patience and like spend a moment to remind yourself like none of this is my fault. I'm doing the best that I can with a situation that most people don't even have to deal with. But it's still like it's still a struggle even with the PT.

[1:09:59] [Ashley Michaels]: Yeah. Which is something I think that is good for doctors to hear. It's still a struggle even with the PT. You can be doing the right things, but it doesn't mean it makes it significantly better. It might make it moderately better, but you still are dealing with so much.

[1:10:13] [Ashley Michaels]: But our last question was, what would you like doctors to understand about EDS or Joint Hypermobility and ME?

[1:10:23] [Sally Stardust]: I actually wrote something because I actually wrote something I feel so strongly about this.

And we've talked about this a little bit, but I really want to bring it back in this question. You are living with hypermobility from birth and that is your experience for your entire life. It's extremely difficult to parse that you are experiencing symptoms. When it's just your existence it's hard to understand what is what is a symptom and what's not. So when I was a teen and I was going to the doctor for pain no one ever asked me: “do your joints feel unstable or do you experience subluxations or do you experience dislocations?” I was never asked that. And that kind of blows my mind because you would think that doctors knowing the bevy of conditions in the world and that chronic pain is so complicated and so far reaching that they would ask more questions than just relying on you to self-report everything. So that's a big thing that I wanted to say is just, I don't know, I wish doctors would spend more time investigating with their patients, asking them questions, trying to figure out what they're dealing with, instead of just assuming that the patient totally understands what's wrong—because I did not.

[1:11:48] [Jacqueline Boxxx]: That's huge. Yeah, I absolutely agree and like there are so many instances where doctors assume that you know the definition of what is “too much” or “too far” to be “normal” and like we don't know what the definition of “too much” or “too far” or “normal” is. Like, one of my side effects slash side conditions, interstitial cystitis, basically, which is also connected to EDS. It's about bladder control and like the ability to sense when you need to go to the bathroom versus like. So a lot of times if you're in a flare with interstitial cystitis, it feels like you have a UTI all of the time, even though you don't. And one of the things that really frustrated me was that like a doctor would say to me, “you know like why didn't you report like that you were having these symptoms. like how often do you go to the bathroom every day?” And I was like, oh, God. I don't know, maybe 30 times and like their eyes got huge. And I was like, oh, is that not what everybody does? Like, I literally did not know how many times a normal person goes to the bathroom during the day.

Asking a lot more questions in terms of like: “Describe like your normal day. Like what happens to you on a day. And go through every single one of those experiences and identify where there might be a “symptom” occurring, that could be really helpful. I'll build off of that to say one of my things, which is just that um even if something seems excessive to you and you, therefore like, there's this thing like where I said 30 times and they assumed I was exaggerating like that that can't possibly be true, and that assumption that like that is so far outside of the norm that you must be exaggerating or lying. I feel like that is like a knee-jerk reaction that a lot of doctors have It sounds very simple to just say believe your patients. But genuinely it's a crucial lesson that I feel like doctors need to hear like believe your patients when they are reporting something even if it seems to you like that cannot be true. Operate as if it is.

[1:14:31] [Sally Stardust]: I don't know. It's just so strange to me that I was told I had tendinitis and like plantar fasciitis and all of these things as a child, like 20 plus times and nobody did anything. Like I feel like if a child is in pain, maybe investigate more. It just feels really strange that like there's a kid in pain all the time and like saying they can't do all these things and like nobody did anything.

[1:14:59] [Jacqueline Boxxx]: This is a really big one for me that I want to make sure I bring up. Which is that don't—this is complicated, I think, for a lot of doctors to hear—but don't assume that when somebody comes to you with a chronic condition and they use a mobility aid that their number one goal and priority is to stop using that mobility aid.

[1:15:21] [Sally Stardust]: Oh my God, yes.

[1:15:24] [Jacqueline Boxxx]: [laughing] Because like the amount of times that I have showed up in a wheelchair to a doctor and they have said, okay, so let's get you walking again. And it's like, well, that with my condition, that's not the goal. The ultimate goal is not get me walking again. Because no matter what, there are times—because of my permanent genetic condition—where walking is not the right answer. Like normal ambulatory movement is not the goal. The goal is quality of life. And quality of life is not the same thing as walking. Like you can have a really high quality of life and use mobility aids.

Those are not antitheses. And it's something that I've gotten into arguments with doctors about where they have like straight up said like, well, I'm not going to treat you if you don't want to get better. And like, getting better to me doesn't mean never using; that doesn't mean getting like never using a wheelchair. That's not what that means. To me, that means I have a lot fewer pain on a day-to-day basis. And right now that means using mobility aids. So that's a big one for me.

[1:16:47] [Sally Stardust]: Maybe be in line with your patients as far as their health goals and don't try to dictate what that should mean to them.

[1:16:54] [Jacqueline Boxxx]: Yeah. Yeah. And, um. You know, one thing that I, I've been coming up against recently is that, you know, I also have, you know, like early stage osteopenia. And the number one recommendation that I get from every doctor is do more weight-bearing exercise. And that's like, that is the thing that causes me to have more dislocations and subluxes is weight-bearing exercise. I wish that doctors were more realistic and less like stick to like this is what the book says I recommend, so therefore, that's what I recommend.

Like think about what you were recommending to your patients and about whether it realistically fits with the way they live. Being realistic about like what kinds of recommendations can you make to somebody whose lived experience is like this? Rather than just go to what the book says that you should say.

[1:17:58] [Sally Stardust]: Yeah, like consider that EDS affects every part of your body and everything that you do when giving me a recommendation.

[1:18:06] [Jacqueline Boxxx]: Yeah.

[1:18:07] [Ashley Michaels]: Having doctors that are taking the time to maybe be more multidisciplinary in these chronic conditions, because there is more connection than we understand now.

[1:18:17] [Jacqueline Boxxx]: Yeah, absolutely.

[1:18:20] [Ashley Michaels]: I think that's an excellent final point for us. Thank you both so much. I have enjoyed this so much. And I think doctors will learn a lot from what you have shared with us and your lived experience. I think the lived experience for a lot of patients isn't told as much as we need it. And you all did a beautiful, beautiful job. Thank you so much.

[1:18:40] [Jacqueline Boxxx]: Yeah. Thank you.

[1:18:41] [Sally Stardust]: Thank you

[1:18:42] [Bridget Collins]: Thank you to Dr. Rowe, thank you to our panelists, and thank you to the ME Action Maryland advocates who contributed to this webinar and to all of our webinars. Also, thank you healthcare providers for taking the time to learn about Ehlers-Danlos Syndrome and Joint Hypermobility in pediatric ME.

If you have questions for Dr. Rowe please email us at Maryland@MEAction.net We appreciate your participation and hope you will join us for our next webinar on the Manifestations of Biomechanical issues in Pediatric ME/CFS.