As many of you may know Dr. Diana Driscoll is on medical disability due to the autonomic nervous system complications from Ehlers-Danlos Syndrome and has not seen patients in the office since August of 2004. In the course of her research trying to find what was making her ill she accumulated considerable knowledge in Ehlers-Danlos and the complications associated with it. Dr. Driscoll has been asked to share her knowledge at the Ehlers-Danlos National Foundation Meeting in Houston July 31st – Aug 2.
Ehlers-Danlos Syndrome is a connective tissue disorder that affects multiple systems and organs. EDS, as it is called by patients that have it, has numerous different types. The most common types of EDS are classical and hypermobile. Another, rarer type called the vascular form, is the most dangerous because it involves weakening of the blood vessels which may rupture (an aneurysm), which is often fatal.
The most common symptoms of EDS are hyper-flexible joints (people sometimes refer to this as “being double Jointed”) that are flexible beyond the normal range of movement, skin that is very stretchy, soft, bruises easily and is sometimes fragile (tears easily). EDS patients often complain of joint pain that may be mistaken for arthritis, yet the x-rays are not consistent with arthritis.
The most debilitating complication of EDS is a type of dysautonomia called Postural Orthostatic Tachycardia Syndrome or POTS. Dysautonomia is the result of our autonomic nervous system ceasing to function properly. Our autonomic nervous system regulates functions that our body does automatically such as digestion, breathing, heart rate, blood pressure etc. It is estimated that 40 to 70% of EDS patients suffer from POTS. Many patients with POTS don’t know that they have EDS and are often mis-diagnosed with fibromyalgia or chronic fatigue syndrome. It is thought that autonomic dysfunction is caused by instability of the cervical spine thus interfering with the brain stem.
The medical literature reports that the incidence of EDS is approximately 1 in 10-14,000, however doctors report seeing it clinically more frequently. It is hypothesized that once doctors are made more aware of how to diagnose EDS that the reported incidence will be more like 1 in 3-5000 people.
Once doctors become more aware of how to identify patients with EDS I believe that the incidence reported in the general public will rise markedly. I have personally identified numerous patients in our practice that have EDS and concur with the incidence of 1 in 3-5000. I, in fact, would not be surprised if it was indeed more common than 1 in 3000.
Registration for the Ehlers-Danlos National Foundation 2008 Meeting is available at the EDNF website.
UPDATE: Visit the post EDNF conference entry for the lecture notes and a handout for eye doctors.
13 responses so far ↓
Diana // July 4, 2008 at 2:09 pm |
I wanted to take a moment to thank everyone who has continued to keep me and our children in their thoughts and prayers through this journey. I am grateful that my husband (Dr. Rich) is able to help so many others with a diagnosis, especially those who have suffered for years without a doctor’s understanding.
For those wonderful folks who continue to ask how I am doing, I wanted to report that I have improved to the point that I am able to work some (although I’ll never again be able to practice optometry). I am involved in hotel development, and as long as the work is on my body’s own schedule, I’m truly enjoying it! A tremor, inability to stand beyond a few minutes, positional neck issues, balance problems, and incredible fatigue has slowed me down, but makes me that much more motivated to make a difference in the world, and to work as long as my body will allow!
Blessings to you all,
Dr. Diana
Sherry Wermuth // July 17, 2008 at 10:33 pm |
Diana walks as brave a walk as anyone I know. She stays incredibly positive despite the fact that she cannot care for her children and home to any significant degree, and certainly less than her conscientious heart wishes to. She faithfully expresses her gratitude for her husband’s unconditional love and double-duty at home, and she faces each day with a courage that defies her suffering. Her daily battle with intense pain in the midst of a frightening and degenerative condition is nothing short of valiant. To see her is to behold a beaming and constant smile that says she is going to be joyful in the face of grave circumstances. I am changed when I spend time with her because I witness her choice to be courageous and grateful. This, in spite of the fact that she watches her young children suffer from the same debilitating diseases.
Thank you, Diana, for your “Yes” to life and love.
linda simmons // August 12, 2008 at 8:14 am |
I am soo sorry we missed out on your lecture in houston, there was so much to see.My dtg. the 15 yo in the w/c sat up tooo long fri. and took a dive off the couch face first, she was fine,the BP was low and pulse fast.She is EDIII, 9/9 on beighton scale,S/P fusion,decompression, and reflux sx.We now know POTS is also a major problem for her, its only taken 4 yrs to figure that out.We are waiting to see a specialist for the tilt table test,she goes to school 1/2 day and has a aide with her at school.Do you know anything else we could try?She is on salt pills and forced fluids, atenolol 50mg for tachycardia. LindainFla
simmonr@bellsouth.net
Dr. Diana // August 12, 2008 at 3:39 pm |
Hi Linda,
I must first tell you that most everyone I know with POTS does worse ON the B-blockers! They slow the heart, but usually make us feel much worse overall. Please download the lecture notes and I think you’ll find some handy hints there. We are all short on Magnesium, so I’d add that right away (in the evening), and try an abdominal binder when she wants to be more active (you can get them at the drug store). Huge help for me! Is she wearing a cervical collar? I wear one when I’m active, in the car, or just feel sick… xanax is a big help for me, as is Cymbalta (talk to your doctor first!). I also couldn’t get through the day without a Sudafed! Again, please discuss any vasoconstrictors with your doctor, and let me know if you have any questions on any of the suggestions I have in my notes. Hang in, you are not alone on this journey,
Warmly,
Dr. Diana
linda simmons // September 30, 2008 at 5:58 pm |
Thank you for the response its so funny Lisa and I were talking about weaning off the atenolol. She takes suafed just cause she feels stuffy and I guess it makes her feel better, she wears her cervical collar in the car for safety her Dad wanted her to stop today and she said she wasn’t taking it off.We see Dr Grubb’s NP in Oct.
Thanks, Feel good
Effie Goodall // January 13, 2009 at 8:37 am |
Diana,
I hope everything is going well for you. You mentioned to me in an email that I should have my testosterone levels checked. What is it about Ehlers Danlos or POTS that would cause low levels of testosterone? Is there any reseach that would support this?
I had my testosterone checked and it is low. My doctor said that they were low like an woman who is on birth control. Do you have any insights. Thank you so much. I really appreciate your work.
Effie Goodall
Diana // January 17, 2009 at 10:37 pm |
Hi Effie and Linda,
Linda, from what I hear, Dr. Grubb is amazing and he understands the link between POTS and EDS. A great choice! And good for her to wear her collar! I was rear ended TWICE this year, but both times I had on my collar. Whew!
Effie, what a great question. I hope your doctor checked your overall testosterone AND your “free testosterone”. Mine goes all over the place, just like all of my other hormones, including growth hormones. Our guess is that the feedback loop that goes through our messed up brain stems is not functioning properly, but we’re still guessing. My pituitary on an MRI is squished, so there’s some evidence of pressure on the pituitary (and maybe the hypothalamus?), likely from cervical instability. I would have your hormones (the whole panel) checked fairly often to see if it is stable or just crazily up and down, which is harder to treat. I’ve just kind of learned that if I get facial hair (really!) or my hair on my head starts to fall out, I need less! Crazy, I know!
Thank you for your kind words.
Diana
Alicia // April 24, 2009 at 3:21 am |
Diana,
Thanks for all your experiences. I feel so bad for many years, no one can understand what is happened to me. Since I was 5 years old I have coagulation problems (malfuntional plaquetes). Then since I was 12 years old I been having pain in my back and legs, the doctor said I have problems in my spine. When I had 24 I lost my firt baby, then I start having problems with my heart (prolapse, arritmias, POD). I always been very flexible my hand bend a lot, everybody at school laught at me.
The principal problem is that I have 41 years now and two kids (very dificult pregnancies) and I feel terrible, I can sleep, I feel pain in all my body and I feel a fatigue cronique. My husband travel and some times it is imposibloe to my go out, so my son miss the school. I dont no what to do, I find doctors who tell me that I am depress. I am taking xanax 2mg and zoloft 200mg and I feel a little bit better but I still having problems to sleep. The doctor said my thyroides is dead because my own body killed it, so I have to take medication every day. I always been havin POTS.
I just want to know if you know a doctor in Florida who understand the EDS, if not I can travel to anywhere.
I been living with pain, somethimes I been doing rehabilitation for my spine (hernas and degenerated disk) and my hands (carpal tunnel syndrome) but the release is just for a while.
I appreciated you help, and please forgive me for my bad writing, and from Venezuela and that is another issue, because I can have help from my family. And my husband do not understand what is happened to me, because I can’t keep my house cleaner like before and sometimes I dont want to leave the bed.
Thanks for your help!!
Diana // May 7, 2009 at 9:13 pm |
Alicia,
I am so sorry for the suffering that you are enduring, and for the lack of empathy from those around you. This is one of the most frustrating parts of this, and most other rare illnesses. Many doctors forget that there is so much yet to be learned about the human body! As we used to say, “It’s not rare, if it’s in your chair!”. I would like to recommend a specialist to you in Baltimore who understands EDS, as far as we understand it today, and is extremely empathetic. She will spend at least 3 hours with you, and she can give you help and validation.
I’m not supposed to name doctors over the internet (good grief), but please email me and I will get all of her information to you. She has helped over a dozen referrals of mine already, and many of these people had basically given up on life, going decades with no diagnosis and no help.
Meanwhile, there are some terrific new medications out there, without which I would remain curled up on the floor in the fetal position! Depending on the results of your exam, Cymbalta may be considered (it balances the brain chemistry that gets messed up with us, it is a terrific pain killer, and it has antidepressant effects (without weight gain! Imagine that!). I take something every night to sleep. I have come to understand that for now, I won’t get any sleep otherwise. Chronic fatigue is very common, and the cause of fatigue can be different for every person. I will tell you that our hormones tend to be completely nuts, and I am starting to show adrenal fatigue – treatment for that is helping.
You may want to share http://www.potsplace.com with your husband. Even You-tube has some videos now that show people with POTS. Everyone is a little different, but even I found it reassuring to see another woman with tremors only on the right side of her body!
I look forward to getting the specialist’s information to you. It will be worth whatever you need to do to get there. And the last thing you need is to see another doctor who doesn’t understand, or who doesn’t want to understand.
You may very well have support groups in your area for POTS and/or EDS. You may want to check that out. You had the strength to write your incredible email. You can, and will, find the strength to get the help you need. If it helps, know that I, and many, many others understand everything that you are going through. You are not alone!
Warm Hug,
Dr. Diana
kelli // September 6, 2009 at 12:32 am |
Hello Dr. Diana,
I have suffered for years with what I suspect is EDS/POTS. I have been diagnosed with Fibromyalgia, Crohns Disease, and many other things. I’ve had a lung collapse, live with terrible joint pain everyday, have the “double jointed” elbows and quite a few joints tht pop in and out of place. I feel as though God lead me to this sight. I have all but given up and it feels really good to be able to read these stories of how others out there understand, knowing I’m not in a world of my own. Please email me the Dr.’s name in Baltimore. I live in Louisiana but would try my best to see this Dr. Thanks so much.
God Bless
Kelli Kuntz
Christine // January 12, 2010 at 9:51 pm |
I’m not sure if you are currently following this blog- it seems that the last entry was a while ago. I suspect I have a mild form of EDS. I was treated for neuromediated cardiogenic instabiltiy with meds for years and then underwent cardiac ablation. As a child, I was diagnosed with Reynaud’s syndrome. I’ve always had hyperflexible joints, but since my pregnancy, I’ve been having significant problems with my hip joints popping out. I’m desperately seeking an EDS experienced doc int he Tampa Bay, FL area. Can you help?
Dr. Diana // January 17, 2010 at 3:11 pm |
Hi Christine,
It does sound as if you have a connective tissue disorder – good research on your part! Pregnancy commonly loosens our joints (I’d curse those hormones that relax the ligaments except that they also allow the baby to squeeze out, so I’ll back off!). I’m afraid that I don’t know of any specialists in Florida. You can check on EDNF.org to see if they have any, but you may need to make a trip. If you don’t have a firm diagnosis, a geneticist is a great place to start. With a diagnosis, a whole new world can be opened to you – one with validity for the doctors (and insurance companies!). Please feel free to email me, and I can shoot you the names of a few geneticists I know who truly “get it”. Trying to find a PT who “gets it” can be a trick, too. Are you able to get your hips back in place? I’ll tell you what I do and it works like a charm. If you can get a rubber ball, about the size of a volleyball, lay on your back, legs bent, feet flat on the floor. With me? Then you relax your legs so that your knees go outward. Now start to bring them together (keeping your feet flat on the floor), and put the ball between your knees and squeeze. You should feel (and even hear!) the ligament pop back, putting your hip in the right position again. It takes a little practice, but don’t give up!
Thanks, Christine – I’ll look forward to your email.
Dr. Diana
kelli // March 5, 2010 at 4:45 pm |
hello, i’m a 37 yr old female diagnosed with fibromyalgia, crohns, you name it. after yrs of my own research and coming across your site, i realized the stories here are all too familiar and that ehlers seems to make more sense. anyway, going to mayo clinic in jacksonville for a week to see a team of specialists. ive all but given up, until now. first time ever finding so many people with so many similar symptoms. i will pray for each of you and plz do the same for me while on my journey to the clinic.