EDS on Mystery Diagnosis

This episode of Mystery Diagnosis featurs a girl with EDS!! It was positively fascinating and eye opening, even for me and I’ve lived and heard some pretty crazy medical stories! It’s heartbreaking how much this young girl had to go through before getting answers. So much of this story sounds so eerily familiar.

Ehlers-Danlos Awareness Month – Fact #14-17!

#14: Though genetic testing is available even if the results are negative it cannot rule out the possibilty of EDS. This is because not all of the disorder causing mutations and variants have been identified, meaning that just because you don’t have a mutation known to be associated with EDS doesn’t mean you don’t have one that is as of yet undiscovered. This is why physical examination and clinical presentation is so important.

#15: There is no cure for EDS. Treatment is merely supportive and includes continual, close monitoring of the neccesary body systems and treating individual symptoms as they present whenever possible. Physiotherapy, occupational therapy, and orthopedic instruments can also prove helpful.

#16: Surgery is often needed in order to stabilize extremely loose joints and help prevent them from subluxating and dislocating. Because of the known fragility of the tissue in EDS as well as the poor, slow and sometimes incomplete wound healing the pros and cons of such procedures must be thoroughly measured. It’s also very important to have a surgeon who is knowledgeable of EDS and the different steps that should and can be taken to help ensure the best possible outcome and prevent further tissue damage.

#17: Currently EDS is estimated to occur in 1 out of every 5000 births worldwide, equally effecting men and women of every race and ethnicity.

Ehlers-Danlos Awareness Month – Fact #10-13!

Fact #10: In many cases those with EDS do not respond to local anaesthetic properly or at all. This may mean complete failure of the anaesthetic to freeze the intended area, a much lower amount of numbness, or a much shorter duration of effect. (I am one of those people and this can result in some fairly traumatizing medical procedures – especially when doctors won’t take your word for it).

Fact #11: Possible cardiovascular manifestations of EDS include valvular heart disease (such as valvular incompetance) as well as artery dilation (the weakening of the walls of certain arteries, and/or veins, more commonly associated with certain types of EDS). For those at risk an annual echocardiogram is recommended in order to monitor the heart and aorta and to help prevent more serious complications by early intervention if needed.

Fact #12: EDS is an autosomal dominant genetic disorder (apart from types 6 and 7C) meaning if a parent has the disorder they have a 50/50 percent chance of passing it onto each child they have. Not everyone with EDS has inherited the disorder from a parent though. It is estimated that about half of those with EDS received it via what’s known as “spontanues mutation”. This is when the eds causing gene becomes mutated all on it’s own. But, once the gene mutation is in the family from then on it carries the 50/50 chance of being passed on. The gene can only be inherited from a parent, it does not skip generations.

Fact #13: EDS widely varies in severity and the onset of symptoms is often gradual. Oftentimes a diagnosis is only made when after many years of unexplained symptoms there become enough to connect the dots back to the disorder. Because of the limited awareness of the disorder among doctors the road to diagnosis can be agonizingly slow and frustrating. The link between symptoms can often go unrecognized entirely.

Ehlers-Danlos Awareness Month – Fact #6-9!

Sorry for the lack of EDS facts! I’ve had a strange few days topped off with a horrible headache and the nausea that comes with it. I went to lay down at about 11:30 am yesterday after only being up for a few hours and ended up not being able to get up until 6:00 am this morning! I’ve been feeling pretty awful, even for me. I wish I could say I feel rested after all that sleep but I definitely don’t!

Fact #6: EDS can also be associated with rare and/or serious conditions such as tethered cord, cervical cranial instability, cranial settling, dural ectasia and chiari malformation. It’s important to be evaluated for these conditions if you have EDS and begin experiencing unexplained or new neurological symptoms. It’s also important to make sure the radiologist reading your imaging results is aware of your disorder and these generally rare manifestations, so that they don’t misinterpret them or miss them altogether.

Fact #7: The many potential ocular manifestations of EDS can include: high myopia, cataracts, lens subluxation, glaucoma, retinal detachments, photophobia and macular degeneration.

Fact #8: Postural Orthostatic Tachycardia Syndrome is a common and potentially debilitating symptom of EDS caused by an abnormally large increase in heart rate upon moving from a sitting or laying position to a standing one. This is often accompanied by a fall in blood pressure and decrease in blood flow to the brain. Severe cases of POTS can potentially incapacitate those who suffer from it preventing them from attending school or work and/or leading a normal life.

Fact #9: Because of the unpredictable nature of connective tissue disorders like EDS, and the enormous array of possible symptoms they can cause, it’s recommended that individuals with positive or suspected diagnosis of them receive ongoing, long-term medical care – preferably by specialists knowledgeable of the unique and possible complications they may cause.

Ehlers-Danlos Awareness Month – Fact #5!

EDS fact #5 (info provided by the EDNF): Clinical manifestations of EDS are most often joint and skin related and may include: joint hypermobility; loose/unstable joints prone to dislocations and/or subluxations; joint pain; early onset of osteoarthritis, fragile skin that tears or bruises easily, slow and poor wound healing and much more.

Ehlers-Danlos Awareness Month – Fact #4!

In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #4 (info provided by the EDNF): Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. 

Ehlers-Danlos Awareness Month – Fact #3!

In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #3 (provided by the EDNF): There are six major types of EDS, each classified according to their manifestations of signs and symptoms. 

Ehlers-Danlos Awareness Month – Fact #2!

In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #2 (provided by the EDNF): The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue. 

Ehlers-Danlos Syndrome Awareness Month!

In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #1 (provided by the EDNF): Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. 

The mascot for EDS has become a zebra or zebra stripes. The reason behind this is because EDS is what’s considered a “zebra diagnosis” aka a surprise, rare diagnosis. This is based on the saying “when you hear hoofbeats behind you, don’t expect to see a zebra” because the more likely and logical explanation would be that they belong to a horse.