The PrettyIll.com website will also be the hub for a number of studies that Dr. Diana is starting. The first of which is Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI), a study that is being done at Total Eye Care. The second study is Head Circumference Growth in Children with Ehlers-Danlos Syndrome Who Develop Dysautonomia later in life. There are other future studies planned as well. I hope you check out the new site and leave a comment!

I wanted to reach out to those of you who suffer from POTS (or any autonomic dysfunction). This has been the most difficult aspect for most of us to deal with, and those of you who know me, understand. The symptoms can include the inability to stand beyond a few minutes, tachycardia, digestive issues, poor temperature control, anxiety, tremors, balance problems, twitches, myoclonus, fasciculation, memory problems, dizziness, fatigue, nausea, abdominal pain, weakness, hormonal fluctuations, difficulty breathing, and… well, why don’t we just stop there and take a breath?

We’ve also noticed that too many people with EDS also develop multiple sclerosis. Some of you are aware that a soft cervical collar at night time has helped us, as has Diamox (a diuretic that crosses the blood-brain barrier, taking fluid pressure off of our brains). This has been a consistent finding, but no one has been able to explain to me why it helps, and why it doesn’t eliminate the problem entirely, which has been a great source of frustration for many of us.

While researching EDS, M.S. and POTS, and considering my own symptomology and yours (and I’ll confess to being my own guinea pig, too), I’ve come up with a theory about what is happening, why, and what we can do about it. It’s a bit complicated to go into too much detail here, but understand that it all relates to sluggish flow of the CSF and our change in posture causing the brain to sink and rise, leading to chronic brain edema and a type of “normal pressure hydrocephalus”.

Because my son and I became symptomatic after a virus (although we had small symptoms that we could ignore prior to the viral attacks), I believed that the virus, or its antibodies, somehow began the cascade of symptoms. But because our children and my sisters and mother also had an interesting constellation of symptoms, I felt there was also a hereditary component to our poor CSF and/or veinous drainage from our brains.

As many of you know, Diamox has relieved much of the pressure on my brain, but now I will be having some imaging done to see if I have any blockages in my veins that could be opened (with a balloon or stent) to help with the condition. This is such a difficult condition to treat because it is dynamic (it changes with position, for example), yet medications are static (they cause one change).

I was beginning to show signs of multiple sclerosis, which is also not unusual for EDS patients. This is when I came across a condition called CCSVI (chronic cerebrospinal venous insufficiency). Amazingly, I knew immediately that I would be a candidate for this procedure. It was a procedure I felt I needed before the procedure existed! I’m off to be tested, and will have some new information for you soon, I’m sure.

Until then, never give up.

• Mini scleral lenses, which provide excellent vision like that of traditionally fit gas permeable lenses, however with markedly improved comfort.
• Corneal collagen cross linking, though not yet FDA approved, is a new technology that I expect will be of a tremendous benefit to our patients.

Dr. Diana Driscoll

Effective 10/22/2010 we are going to put Lunch and Lounge on hiatus for a while.  We’ll make an announcement here when we bring it back.  Thanks to all of those that participated.

Many patients with questions and concerns regarding their challenges with Ehlers-Danlos Syndrome have contacted Dr. Diana for help.  Starting Friday, June 11 at Noon Central time, Dr. Diana would like to help as many people as possible by holding weekly conference calls.

Our practice continues to be sought out by patients for help in their quest for answers to the potential ocular complications related to Ehlers-Danlos Syndrome, such as dry eye syndrome and keratoconus, as a result the number of patients we see with EDS grows rapidly.

We will follow up with some photos but we wanted to get this information out there.  At the end of the article we’ve included an EDS handout to give to your eye doctor as well as one to give to your child’s pediatrician.

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.