My doctor and I always joked that I was weird. A few weeks ago he said he thought I had Ehlers Danlos Syndrome. I had heard of it because of Dr. Diana Driscoll, who posts on this board and attends CCSVI Seminars. I just never looked into it. Now, I can't believe I missed it! EDS explains all of my seemingly unrelated health issues.
I have a few hoops to jump through before getting an official diagnosed. First, I need to see a geneticist. Then, I need to find a doctor who knows what EDS is and how to treat it. I've only found three doctors in the US and they have very, very long waiting lists.
There are several types of EDS. It is also hereditary. This troubles me greatly. I have two wonderful boys and I am really worried for their futures.
Is there anyone who has gone down this road? Does anyone have any information which may be helpful?
Below is some info on the Driscoll Theory.
"The Role of External Communicating Hydrocephalus, Mast Cell Disease and CCSVI as the cause of POTS (Postural Orthostatic Tachycardia Syndrome) in Ehlers-Danlos Syndrome
It is a hefty, complex theory so I will only attempt to hit the highlights here:
External Communicating Hydrocephalus causes subtle levels of High Intracranial Pressure, often from birth. This results in a constellation of neurological and autonomic dysfunction symptoms that can manifest at any age. Poor CSF drainage resulting from defective collagen causes CSF to build up on top of the brain and pushes the brain down, putting pressure on the brain stem and other structures. This downward pressure blocks CSF draining out of the brain and creates a constellation of symptoms – base of the brain, pressure headache; dizziness; tachycardia; fainting/near fainting; nausea; blurred vision; numbness in the extremities and so on – in short, symptoms of Chiari, Cervical Instability, Brainstem compression and POTS. Diamox, a mild diuretic, can quickly reduce the build up of CFS and relieve the debilitating symptoms overnight. Even if cervical instability requires a fusion or a Chiari Malformation calls for a decompression, using Diamox to reduce the CSF pressure above the brain could make those surgeries more successful.
CCSVI (Chronic Cerebrospinal Venus Insufficiency) Stenosed (narrowed) veins in the cervical region result in poor blood and CSF drainage, contributing to the cycle of building pressure above the brain. Angioplasty can open the narrowed veins and restore proper drainage. This is a big area of research in MS; EDSers are at increased risk of developing MS so the connection is intriguing. [Edited to point out that the veins of EDSers are fragile and CCSVI treatment is problematic, although stenosed veins may indeed be a problem. No one should run out and seek CCSVI treatment. It is an intriguing connection but available treatment is not necessarily the answer.]
Mast Cell Disease is at the root of the Driscoll Theory. In mast cell disease – mastocytosis or mast cell activation syndrome – mast cells degranulate and release a host of toxic chemicals throughout the body. Mast cells can hide all over the body – in the gut, in the brain, in the bladder, etc. When they are in the brain, they can affect the production of CSF and cause autonomic dysfunction symptoms. They can damage blood vessels, causing them to be ” ‘leakier’ and weaker” than they already are in EDS patients. In the gut, they cause serious GI issues, including food sensitivities that mimic gluten intolerance and more. Flushing, tachycardia, fainting/near fainting, abdominal pain,headaches, fatigue are symptoms of mast cell disease and, not coincidentally, are also symptoms of POTS. Treatment includes H1 and H2 histamine blockers, like Zyrtec and Zantac. A mast cell stabilizer like Gastrocrom is the next line of treatment. Some researchers believe that POTS = mast cell disease (there is certainly a connection with hyperadrenergic POTS); other doctors are successfully treating IBS with mast cell stabilizers. Mast cell disease is a big area of research for the EDS community and offers a very interesting avenue of investigation."
Thanks
