Dr. Diana Driscoll To Speak Before the Ehlers-Danlos National Foundation National Meeting

Dr. Diana DriscollAs 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.

UPDATE: An updated and expanded version is now available on Amazon.com, Ehlers-Danlos Syndrome: Your Eyes and EDS.

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32 responses to “Dr. Diana Driscoll To Speak Before the Ehlers-Danlos National Foundation National Meeting

  1. 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

  2. Sherry Wermuth

    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.

  3. linda simmons

    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
    [email protected]

  4. 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

  5. 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

  6. Effie Goodall

    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

  7. 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

  8. 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!!

  9. 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

  10. 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

  11. 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?

    • 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

  12. 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.

  13. Dr. Diana,

    I have researched Ehlers Danlos extensively (it seems) and was recently diagnosed with this (age 39). I have 3 young children and desperately want to delay any degeneration so I can keep up with the demands of motherhood. I live in the Kansas City Mo area and have not found anyone that specializes, or has much knowledge with this condition. It does not seem as any doctor has even been interested in finding out about it either. They so don’t understand that this is my LIFE we are talking about. I am willing to travel to see a doctor. Would you be kind enough to share who you would trust with this? It is so difficult, and I do not want to end up worse because of a lack of knowledge about therapies, doctors, techniques. Thank you for any and all help!

    Terri

  14. Hi, I’m Zach. I’m thirteen, and was diagnosed with EDS Hypermobility in March/April after having excruciating pain in P.E. I go through the whole shoulders, hips, knees, elbows, ankles, wrists, hands, fingers, neck, back etc. pain, which makes school difficult. Anyway, I suffer debilitating headaches, and dizziness upon standing/rising from sitting or laying. It can be pretty bad and last for long periods of time, and I have taken my pulse and when I stand it is 110+ as opposed to 65-80 sitting/laying. Anyway, I havee not been checked for POTS but I feel like I have it. That would explain why I am so tired all the time! But have you found a way to get through the pain without medication? I don’t want to start pain killers this early, but I cannot stand the pain. Oh, and can you e-mail me that doctor’s name in Baltimore? I lived there before we moved to Korea, so we will be back in December. I hope that this forum/thread/post is still active! Thanks, Zach G.

  15. Hi Zach,
    Thank you for reaching out and I will be sending you a personal email.
    Meanwhile, for pain without medication, sometimes a “TENS unit” helps. Your doctor should be happy to help you get one. I’m not certain if it distracts the nerves, or blocks the pain sensation, but it does help. Some people find relief with ice, others with heat (I alternate!). Now, don’t laugh, but laughing helps! Once I was lying on the floor feeling just terrible, when my son (your age, BTW) came in and told me that when the coach went up for a lay-up shot in basketball, his pants fell off. I burst out laughing, and felt great. It actually changes the brain chemistry.
    Have you tried massage, too? Be sure to tell them to be VERY gentle, especially with your neck.
    Are you taking magnesium? That helps some, and you can even put Epsom salts in bathwater to absorb more magnesium. We are ALL short of magnesium inside our cells.
    Zach, it certainly sounds like you have POTS to me. I’ll include the geneticist’s name and # in my email, OK? If you ever decide to go for the drugs (nothing to be ashamed of, but I understand why you’d want to wait as long as possible), Cymbalta tends to work well for us.
    Please keep in touch, OK? My son also has POTS (he got it at around the age of 8), but he is doing much better now. Just try to take it a day at a time.
    Here’s a BIG hug,
    Dr. Diana

  16. Hello,

    Thanks for all the great info., along with the courage to learn as much as you can about this disease. I live in southern NH, and was recently diagnosed with EDS (I am 48, after being likely misdiagnosed with lupus), and so have spent most of my life trying to figure out why I was always experiencing all kinds of health problems. Luckily, the correct diagnosis was made possible after my 4th surgery, this one a mass/hematoma removal, but unluckily, odds seem to be “in favor” of it being Type IV, which is a bit tough to accept. My daughter is 19 and beginning to experience some of the signs I had in my 20s; she also has hypermobility, but we’re hoping against hope that the genetic test rules it out for both of us, even as the signs are all there.

    Thanks for the info. on POTS; we’ve been tracking these bizarre wide swings in blood pressure, irregular heartbeats, and tachycardia, which I’ve had in the past, but which now explains the really awful fatigue, but I’m not sure whether or not to call the doctor for a cardiac referral, as we’re trying to wait patiently until I can get the genetic test for Type IV. It’s a Catch-22 at times, knowing about the EDS, because when I start feeling very sick, I can no longer simply ignore the symptoms, and when I choose to pay attention to symptoms like the tachycardia, it’s sometimes very difficult to separate the disease process from the anxiety, both of which can cause both issues, and the latter which seems perfectly natural when facing a lousy prognosis! I’m also wondering if hypotension itself can preclude one from being able to ask a doc to try a beta blocker drug? I’ve heard about atenolol, propanolol, or celiprolol, the latter of which recently demonstrated some very positive results for life extension in Type IV in a recent study.

    Thanks, and all the best to everyone with EDS; hang in there!

  17. I just want to leave a post letting you know that I have been very encouraged by reading this blog over the last 2 years. I know that the entries are spiratic but they are helpful as I have been struggling with classic type and POTS. Thank you to everyone who continues to live withcourage through this crazy illness.
    sincerely,
    Effie

  18. Dear Dr.Diana

    I am 32 and diagnosed with EDS III recently. I am very desperate most of time because my body starts to fall apart. I am pregnant with my first baby but i am afraid not be able to bring him up.
    I am questionning my diagnose, I can’ t believe I have it because my relatives does not have any joint disorder at all and because all my childhood till age 15-17 I had extreemly strong joints (I could run for 10 miles, work-out in fitness, do weight-lifting because I was rowing). Most of things started after age 15-16 when I got meniscus surgery.
    Could it really be that EDS hypermobility starts so late and there are no signs in childhood (i questionned my parents in details about my motor development – crawling, walking etc. I did not have any “misterious” pain, I did not miss any day at school till age 16 because I gad excellent health)?
    Could it be that EDS hypermobility most problematic area is rib cage (it starts to deform because ribs are slipping out)?
    Could it be that there is non-stop progression during 15 years?

    Please, help me answering these questions! I am searching so much through internet but there is no-one who can answer.
    Most of doctors even don’t know such a disorder – “you just have to accept your condition” is answer to most of my questions. but I don’t want to accept, I want to live!

  19. Hi Baiba,
    We all understand your fears, especially while pregnant with your first baby (congratulations, BTW). First, let me tell you that those dang hormones during pregnancy make our joints looser, so we can feel as though we are suddenly getting much worse, very quickly. Likely, that is not the case, and after you have your baby and the hormones settle down, you will improve to pre-pregnancy condition (especially with light exercise AFTER you have recovered).
    My guess is that your delivery will be uneventful, as our looseness helps in the delivery room. So you can consider it a blessing for about 48 hours!

    I’m not sure how far along in your pregnancy you are, but it takes little or nothing for my ribs to slip out of place — and I don’t have a baby inside pushing everything around!
    Can you tell me how you got your diagnosis? I agree with you that your case doesn’t sound “typical”, but none of us are very “typical”! Are you in a lot of pain? Pain is very common with Type III. There is never harm in getting a second opinion (except for the cost!), if you have any doubts.
    I remember telling the doctors that I never had any symptoms prior to age 46. But as time went by, I was able to remember incidents that should have been clues, not to mention photos that showed my hypermobile knees. But I, too, was big into exercise and it helped keep me together.

    You may need to wait until your hormones have settled down after the baby is born to have your flexibility checked with the Beighton scale (did your doctor do that?). And you were right to question your family members, too. Are any of them hypermobile?
    BTW, have you seen those velcro binders that go under the baby bump and velcro together in the front or behind your back? I had to wear one of those every day, and it was a huge help. I think I was loose enough that everything needed a boost to help me fight against gravity.
    Baiba, please hang in and know that you have an excellent chance, with proper treatment and time to get through pregnancy and recovery, to turn this into a mere annoyance. Keep us posted, as we’ll all likely have some suggestions for after the baby is born!
    Gentle hug for you and baby,
    Dr. Diana

  20. Thank you Dr Diana!
    I wish I could visit some enthusiastic doctor, who is really insterested to help patient and to go in-deepth in details. It’s not easy. I would like to start with a firm diagnoses. It’s so miserable when my baby is soon due but i am able to think only about my problems. ( I am 7 months pregnant) I wake up in the morning and wish I would never wake up. I am sorry to say that but I can’t change how I feel. I admire you and other brave people who can live with such a condition and give love to people who are around you.

    First thing I would like to ask you is – how to make a firm diagnoses? Which doctors should I visit and who could you recomment me. Is it enough with reumatologist/orthopedist? I have been diagnosed with EDS III by prof. Bird in UK (I know he is one of two best specialists in this field in UK but even though – I question his diagnose!) I visited him 3 times, on 2nd time he told that most probably it’s EDS III and after excluding some more serious conditons he confirmed that it’s really EDS III. I feel like many people got this diagnoses only because their joints are falling apart and there is nothing what could be found with bio-chemical of genetic tests. Like…I don’t know whats’ wrong with you, because analyses are fine. You should have EDS III. Is it not truth?

    There are so many details why I can’t trust this diagnoses like:
    – nothing in childhood, till age 15
    – nobody having joint disorder in relatives
    – only my fingers are flexible (knees, bending forward and other Beighton points I can’t score)
    – I tried hormones (oestrogen) according to prof Bird’s assumption that it should stabilase joints (even a little bit) – but there was no efect of it
    – One side of my body is much more affected than another (myophia with right eye, descended right kidney, back muscles week on right side, ribs slipping out on right side etc).
    – There is constant progress of loosening joints and it’s progressing with the same speed during pregnancy as it was before
    etc etc

    What is your opinion dear Dr Diana, have you seen patients who got wrong diagnoses? Should I continue to search and if yes, what doctors would you recommend to me?

    thank you for your support and courage in figthing with this disorder. It is extremely supportive to find people with similar problems!

  21. Hi Baiba,
    Thank you for your kind words. We have all been where you are right now. And unfortunately, we go back to visit that dark place periodically, too! I’ve found that reaching out to others helps me (and you thought I was being nice! ha). I think, too, that once your baby is born, your thoughts will shift dramatically, but please be very vigilant for post-partum depression, OK?
    I would highly recommend seeing a geneticist who is experienced in diagnosing EDS. I don’t know of geneticists in the UK, but if you can’t find one, someone on EDNF.org may be able to help you. The forums there can be helpful, but can also pull you down, so I try not to dwell there for long. There is always someone there going through whatever it is you are going through, and I’ve made friends there. We usually end up talking and emailing away from the message boards.
    So, an experienced geneticist, OK? And please let us know how it goes!
    Hang in, girl. You are not alone.
    Dr. Diana

  22. Thank you Dr. Diana!

    I will try in Europe first, it’s closer and cheaper. I hope doctors are informed at the same level in USA and Europe.
    What European country is more progressive in this field (reumotlogy, genetics, loose joints)?
    Is it Germany, Russia, UK? ..or some other country?
    or is USA an absolute champion in this field?

    Baiba

  23. Hi Baiba,

    I feel like such a stupid American! I don’t know where a hotbed of geneticists in EDS may be in your neck of the woods. I located mine by plain old calling around and asking everyone I knew, and looking at where the latest research was coming from.
    You can call teaching hospitals and get a feel, and again, you may want to ask some of the folks on EDNF.org.
    I wish I made it out of the states more often!!
    Please let us know what you find, or perhaps someone reading this will have some ideas for you.
    Dr. Diana

  24. So grateful for your blog. I’m hoping it is still active as it seems such a great resource and I would appreciate your input on our situation. In our case, my six year old son was recently diagnosed with EDS type 3 after we suspected it and requested testing. in my research, I found your article on The Driscoll Theory and became somewhat concerned. My son was followed for a a couple of months at birth for what was considered a somewhat small headsize. Soon after, he was followed for what was considered a large head circumference. While his height and weight were always under 5%, his head grew to 95%. While his height and weight improved after we had him diagnosed with celiac disease at age 2, his head size has remained on the large side. I was concerned about this and when he was about 2 and half eventually ended up at a neurologist, but stopped short of an MRI as it was stated that his head was within ‘normal’ range and I was concerned about giving him an MRI at that age.

    With his new diagnosis and your article, I’m thinking I may have reason to be concerned again. While he has been quite conversational since about age 2, and is considered intelligent, he seems to struggle at times with memory issues. An example, while helping me put dishes away, he went to the wrong drawer, and then, a little embarrased, kind of laughingly told me he forgot where the utensil drawer was. When he was younger I remember he’d forget some of his favorite character names. Bob the Builder comes to mind. He would forget obvious things that made me think twice at the time. It may be totally normal for kids his age, but he frequently forgets where he put things just a few minutes before, etc.

    I don’t even know if they have what is considered normal head circumference measurements beyond age 2 or 3 when they seem to stop tracking it. But I’m wondering if we should look into the possibility that you raise in your article of hydrocephalis as a side effect of EDS Type 3. To quote your article:
    ‘ External Communicating Hydrocephalus, often in conjunction with CCSVI
    (chronic cerebrospinal venous insufficiency), is hypothesized as the cause of the constellation of cranial nerve signs and symptoms, endocrine abnormalities, personality changes, cognitive decline, extreme fatigue, left ventricular diastolic dysfunction and brain atrophy in the Ehlers-Danlos Syndrome patient population.’

    He’s also pretty irritible at times, tires easily and doesn’t tend toward a lot of physical activity. You mention delayed milestones and he was about a month ‘late’ for most of his milestones. Your research seemed to be with mostly adults. I obviously would have concerns about anything that might cause a cognitive decline in my young child so would not want to discount this, if it is indeed a possibility. On the other hand, would not want to introduce a drug, which you indicated helps in this situation, if it is not necessary. My sense after our initial visit with his EDS doctor was that this was a joint issue. I’m surprised that it can also potentially affect cognition eventually. Obviously we would want to do whatever we could do to prevent this symptom or side effect if at all possible.

    Would you have any suggestions of how we might pursue this to find out if he does have issues with CNS fluid drainage due to EDS?

    Sorry for the length, but you mention mast cell disorder in your artile also and I’ve hit on that previously as possibly contributing to his asthma (before the EDS diagnosis) and I’m wondering if there has been any research or you have any knowledge of whether EDS patients with asthma might be more likely to benefit from mast cell inhibiting asthma drugs than the general population?

    Thank you for the wonderful service your are providing.

    • Diana Driscoll

      Hi Diane P,
      I’m so sorry you are having to deal with this, but your maternal instincts, awareness of your son’s growth and behavior and intellectual curiosity and drive will be a huge help for both of you.
      What you have described thus far sounds classic for The Driscoll Theory. I’d be happy to to graph out your son’s growth for you — I just need his head circumferences, weights and lengths from approximately birth to approximately 15 months of age (just prior to closure of the sutures). This will give you something concrete to work with (and will provide more examples for our study! How great is that? You’ll be helping all of us as you help your son.).
      Cognitive decline — that is a great reason to have his head circumferences (and weights and lengths) graphed out. A change like the head growth you’ve described shouldn’t happen unless there is too much pressure on the brain. Period. This pressure can make it difficult to get fresh, oxygenated blood into the brain (among other issues) that can cause “brain fog”.
      Is your son having any headaches or neckaches? Earaches? Sensitivity to noise, light, commotion? Motion sickness? Those are clues it is getting pretty bad.
      As you’ll find out in Part 2 of The Driscoll Theory, mast cell disorders can CAUSE this low level of external communicating hydrocephalus, and treatment for it is rather benign (yet life changing).
      The research being conducted is being conducted by me, so you’ve hit on the right person to talk to. If you can go to The Driscoll Theory and look at the hyperlinked resources, I think it will calm many of your fears.
      http://prettyill.com/videos/watch/why_eds_pots_patients_are_so_ill_relief_the_driscoll_theory

      Medication to reduce the CSF pressure is even prescribed for babies (see references #4 and #8). You may want to pop on the forum on Prettyill.com and ask some questions from other moms and patients. You’ll also read about how this high pressure can cause delayed development. We’ve always thought delayed development was from loose joints, but maybe not, or maybe not in every case.

      I would recommend that you take your son to a mast cell specialist who understands the link between mast cell disorders and EDS. The only two I’m aware of are Dr. Castells and Dr. Akin in Boston. If your son has mast cell disorder causing his breathing issues, there is a chance that he won’t need to rely on steroids (which can reduce his immune system and stunt his growth). Mast cell treatment is much more benign. My son and I had difficulty breathing, but I KNEW I didn’t have asthma and was tested for it — it came out negative. Meanwhile, some antihistamines (H1 and H2 blockers) and mast cell stabilizers took care of it in about 2 weeks. No exaggeration. It’s amazing what the proper diagnosis and medication can do!
      By jumping on this quickly, I believe you will save you and your son from the many complications that we try to “fix” later, after neurological damage is done. That is my gut feeling — speaking to you as a mom with two affected children. Please keep us posted, and this thread is getting dated. For the latest, you’ll find me at Prettyill.com. See you there!
      Gentle hug,
      Dr. Diana

  25. Thank you so much for your reply. Of the additional symptoms you mentioned, he has had light sensitivity off and on, but the motion sickness strikes a particular chord as we are usually about 1 or 2 minutes from home and I see he his holding his head sideways in his car seat because he’s discovered that somehow that helps him with his motion sickness. The motion sickness has been constant for at least a couple of years now.

    I do have copies of all of his medical records and will go through and locate the height/weight and head circumference measurements. I’ll check out the sites you mentioned and look for you at prettyill.com. Thank you so much for your efforts.
    Diane P. in Cincinnati.

  26. I’m looking for a connection between EDS and pituitary issues. I was diagnosed with a pituitary tumor (prolactinoma) at age 16 (I’m currently 49). Recently, an MRI showed that the tumor is gone, and I have Empty Sella Syndrome and Hypopituitarism. I am about to begin treatment with human growth hormone. I have symptoms of POTS, but am not hypermobile. I do have achy joints.

    My daughter (15) has bee recently diagnosed with EDS. She is very hypermobile. She also has symptoms of POTS, and will go through testing soon. Her pituitary was tested, and the results were normal.

    She is my only natural child, and I am wondering how the two of us could have entirely unrelated rare medical disorders. It feels like there must be a connection.

  27. Darren Crawford

    Hi Dr. Diana:

    My daughter was just diagnosed after a year and half with EDS. She has hyper mobility, headaches, dizziness, bruising, lack of energy, anxiety, depression etc. . We live in Ontario, Canada, where would you suggest to us to get help? We will travel anywhere in North America to get her help. How do I get more info. on the clinical trials and much success are you having the Diamox and what is H1 and H2? Sorry to ask so many questions, but we’re very concerned about our daughter’s physical and mental health.

    In advance thank you for any help you can provide,

    Thank you,

    Darren

  28. I think i have this condition, i also suffer from arnolds chiari malformation as so does my identical twin sister. i am afraid of drugs but desperate, pain is all over and i have tried everything natural, nothing has worked. do you think cymbalta could help

  29. Hi Dr Diana,

    Thank you in advance for taking the time to read my email and for trying to help me. I’m desperate. I gave birth to my firstborn 50 days ago and I have been bedridden ever since with terrible orthostatic tach, dizziness, extreme fatigue and brain fog. I can barely stay alive. I salt load, drink tons of water, wear compression stockings and an abdominal binder and tried florinef and BB, but NOTHING helps my POTS symptoms. I’m seeing a neurologist who is trying (not very hard) ti find out if I have POTS or other autonomic dysfunction.

    My mom and grand mom are both hypermobile (undiagnosed) and are in pretty good health. I used to be doing quite well as well, but during pregnancy I started having excruciating pain from rib, spine, tosal, finger, ankle and neck subluxations! I was seeing a pregnancy PT who was reasjusting my ribs 3 times a week and he said I have at least 5 subluxed ribs every time I saw him… I assume I have HEDS, but I’m seeing a geneticist to rule out VEDS and Marfan next month. In the meantime, I’m sick, lonely, scared to death, bedridden and unable to take care of my 1.5 month old baby…

    Please, help me, Dr Diana! I need a referral for a good cardiologist or/ad neuro in the Pacific Northwest (Seattle area). I also need some encouragement. I’m scared as wikipedia says “women who got POT during or after pregnancy have a poor prognosis and might be plagued with this condition for life”. Is this true? If so, how come I never ever had any issues before (i’m 29 years old)? I am tall, slender, used to be very healthy and living a normal life. Now I crawl to the restroom and hope that once my body is relaxin-free, I stop nursing and time goes on… I might be eventually able to walk again…

    Thanks,
    Lucy