What is Ehlers-Dalos Syndrome?

According to Hollywood, having mutated genes is awesome. You could be a member of X-men, go to the mutants school or be part of the Incredibles.

The top tem movies with mutant Genes according to Rotten Tomatoes are:

The X-Men Series (2000 - 2011)

The Fly (1986) - Brundlefly

Gorjia (1954)

Total recall (1990) - Kuato

Them (1985) - Giant Ants

Teenage Mutant Ninja Turtles (1990)

The Toxic Avenger (1985)

This Island Earth (1955) - The Mutant

Basket Case (1982) - Belial

The Hills have Eyes (1977) - Pluto

I have listed the mutant if it is not in the title.

However in real life having mutated genes is probably the worst thing that could happen to you. Most Diseases, Syndromes or conditions caused by mutated genes have very little or no research being done. For those of us suffering, this is extremely frustrating.

A Brief Definition:

Ehlers-Danlos Syndrome was named after two Doctors in 1904.

Ehlers-Danlos Syndrome, often referred to as “EDS”, is a connective tissue disorder that affects the way your body produces collagen. Collagen is the “Glue” that holds your body together. Bad collagen affects skin, vessels, joints, tendon, ligaments and organ walls. When collagen is faulty, it leads to loose joints that dislocate/sublux often, soft skin that tears/bruises easily, intestinal and heart issues, poor wound healing and widespread scaring just to name a few. Those living with EDS are in constant pain. Some days are worse than others. There is no cure.

Since 1904 there has been little or no advancement in the treatment of EDS. In fact most medical people have never heard of it. So when you have it, it makes getting treatment very difficult.

To explain this, my daughter and I agreed we had EDS in 2012 after doing detailed research into EDS. To see a Specialist, we required a referral. Having spoken to others who have EDS, the best Doctor to see was a Pediatrician. In 2012 I was 43 and my daughter was 18. Now try and explain to a GP who has no understanding of the Syndrome and wants to run tests to see if it is anything else before giving you a referral. Especially a referral to a Pediatrician. Finally we succeeded in getting the referral we needed.  Within 15 minutes of walking in the door the wonderful Pediatrician confirmed our diagnosis. It was the best day and the worst day of our lives.

To finally have a diagnosis, explained all the “weird stuff” happening to us, our extreme flexibility and joint dislocation was a relief. Now we could try and deal with what we have.

Knowing we have EDS and that there is no cure was soul destroying.

“EDS patients are not listened to, believed, diagnosed or correctly treated” - Professor Rodney Grahame

I found this quote online. It explains the journey many EDS patients have to travel to get a diagnosis. However many of those suffering with EDS never get diagnoses. Many of they symptoms of EDS overlap with Fibromyalgia (Fibro) and many other conditions. Once people receive a diagnosis like Fibro that explains most of the symptoms they have, they stop looking.

The logic behind this is the idea of submitting oneself to more tests and trying new meds is more terrifying than whatever danger the unexplained symptoms might indicate.

Living with EDS is a daily challenge. You never know what your day will be like. Add to the EDS, Chronic Pain, Chronic fatigue, Fibro, Osteopenia, Insomnia and depression and it is like playing Russian Roulette, but with Energy levels. You never know if today is going to be a good day or a bad day.

To add to this cocktail of illnesses, I suffer from brain fog. I forget things all the time. It can be really frustrating as I forget the most random things.

I will forget I put a load in the washing machine. It can sit there for days. Then I will have to rewash it before I can hang the clothes up to dry.

If I do not write down everything I need from the shops, I will have to make a second trip to get the items I forget. To frustrate me further I often believe I can remember what I need as I may only need 5 or 6 items so I don’t make a list and end up forgetting something.

I will promise hubby that I will remember to phone someone the next day to deal with whatever issue has arisen. When he comes home from work I have usually forgotten. He is extremely patient with me about this.

Some mornings I forget to take my medication, which is not wise as I take pain medication every morning and every evening just to get through the day.

This is my life with EDS.