I’d like to address our Ehlers-Danlos friends (known and unknown), those suffering from POTS (postural orthostatic tachycardia syndrome) and those dealing with Multiple Sclerosis (even if the diagnosis is not certain). Research is on the cutting edge of science in these areas and because ‘I have donated my body to science while still using it’ (gotta love a pioneer, right?), I’ve jumped at the chance to have the veins in my neck and head tested for blockages or narrowed areas (stenoses) and poor flow. This condition is known as CCSVI (chronic cerebrospinal vascular insufficiency) and I was recently tested for it (BINGO!) and treated.

I don’t show my veins to just anyone, but for you, dear friends, I’ll give you a peek (hopefully you have a strong stomach). On your left, the large “garden hose” is my internal jugular vein (too large because the valve at the base was lousy), and on your right are my “Ramen noodles”. Somewhere in that mess is a tiny internal jugular vein, and most of the other noodles are “collaterals” – an attempt by my body to drain fluid from my brain my making its own route out of there! I had that jugular vein ballooned, and the bad valve ballooned. Another vein was functional only when I looked to the left. It was not treated. (Fascinatingly, I knew before the procedure that if I lay on my back I feel as if I’m suffocating unless I tip my head to the left.)

The venogram procedure for CCSVI is something I knew I needed to have before there was even a procedure (follow that one!). I knew there was too much pressure in my head, but I wasn’t sure what to do about it except for taking Diamox to relieve some pressure (which DID help). By comparing notes with many of you, I was convinced that our high pressure was confined (mainly) to the head and neck area – an interesting puzzle.

After the procedure, I felt better, even the same day. As a doctor, I am well aware of the “placebo effect” and I try to look as objectively at my condition as possible. I also know that I need to give it time to be sure the placebo effect is unrelated.

Knowing that, however, I was aware that I could think more clearly, multi-task, I had very little mental and physical fatigue, and strangely, I immediately began to make my own body heat (I’ve been hypothermic for years). I had a bit of a crash 5 days later (which I was told to expect, but no one knows why that happens to many of us). I’m climbing back out, though. Other symptoms haven’t changed, so I’ll keep you posted.

Meanwhile, I must thank Dr. Clair Francomano, who has tirelessly given of herself to research Ehlers-Danlos Syndrome. She is a famous geneticist and has always been THE expert on Ehlers-Danlos and has made some discoveries about our bodies that continue to amaze me. Her knowledge base extends beyond EDS research, and you have likely heard her speak or come across some of her research studies (her C.V. is approximately 34 pages long). Beyond knowledge and the much needed intellectual curiosity that a rare disease requires, Dr. Francomano is consistently empathetic towards her patients. I don’t know how she continues to be so incredibly caring to all of us, but we are all blessed to have her in our corner.

I am also incredibly grateful to my Interventional Radiologist, Dr. Gooding. It was not only his skill and experience that impressed me. Amazingly, he listened carefully to what I had to say (a feat in itself, as my husband will attest), and my procedure was painless, but fruitful. Dr. Rich and I knew he would be our choice for our children’s treatment, should the angioplasty be necessary.

And while I’m thanking people, I must say that the report I received from Dr. Haacke was simply amazing (it is about 60 pages long). The level of care and detail he puts into his reports will astound you, and it left little doubt in my mind that we were spot-on with CCSVI running in our family.

I would like to close by mentioning that many M.S. patients may have undiagnosed Ehlers-Danlos Syndrome, and I would recommend that all M.S. patients are screened for EDS. 90% of all Ehlers-Danlos patients are never diagnosed, but they go on to develop M.S. And finally, if you have a diagnosis of “chronic fatigue syndrome” or (heaven forbid) “fibromyalgia”, may I kindly suggest those are symptoms, not diagnoses? Again, Ehlers-Danlos is something to consider.

Thank you everyone for your love and support, and I hope that I’ve been able to give you some help also as we travel this journey together.

A gentle hug,

Dr. Diana

The National EDNF Meeting is held every other year and is presented as an opportunity for patients with EDS, doctors and researchers to unite in their quest for answers to this debilitating condition.

Ehlers-Danlos affects multiple body systems requiring a multidisciplinary team of doctors to assist patients.  Physicians of many specialties were present as speakers, patients and attendees.

About Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is an inherited connective tissue disorder affecting our body’s production of collagen used to make connective tissue.   Connective tissue is the glue that holds our body together making up approximately 80% of our body weight.  The most common symptoms of EDS affect the joints and skin.

Skin symptoms are characterized by thin, soft, velvety skin that bruises easily and stretches.  Tearing of the skin is common along with slow wound healing.  Scars are often look like “cigarette paper”.

Joint symptoms include hyperextensible joints (joints that extend beyond their normal range of motion). People with hyperextensible joints have often been called “double jointed”.  Because the ligaments and tendons are “stretchy” the joints dislocate or become subluxated easily.  The premature onset of osteoarthritis is common and is often difficult to identify in an X-ray.

Some of the more common ocular symptoms of EDS are keratoconus, angioid streaks, and myopia.  EDS patients are not candidates for LASIK.  At Total Eye Care we are keenly aware of the potential complication that can result from any corneal surgeries performed on Ehlers-Danlos patients.

One of the most debilitating complications 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, body temperature, blood sugar regulation, hormonal/endocrine imbalances and our  sleep cycle.

Postural Orthostatic Tachycardia causes a person’s heart to race when they stand still.  When a normal person stands, their heart rate may go up a few beats per minute and stabilize. A POTS patient’s heart rate will go up over 30 beats per minute.  If their body can not compensate, a POTS patient will often faint or shake uncontrollably.  A tilt table is used to test for POTS.

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’s ability to regulate our bodies.

The classification system for Ehlers-Danlos Syndrome consists of 6 types; Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, Dermatosparaxis.  The prevalence of EDS is approximately 1 in 3000.  EDS affects both males and females and is not specific regarding race or ethnicity.

Ehlers-Danlos Syndrome is a genetic disorder, however many patients, such as Dr. Driscoll, are unaffected until the symptoms are triggered by a virus.

A copy of the lecture slides for “Your Eyes and Ehlers-Danlos Syndrome“ is available in PDF form as is a handout for patients to give to their eye doctor before their eye exam.

This entry has been cross posted on The Total Eye Care Website.

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.