The first thing most people do when they hear about our EDS is usually try and minimize or dismiss it either by choosing not to acknowledge it at all, by giving unsolicited advice, or through spiritual blame (“You must be creating this with your beliefs”). It’s so cute the way people often think their beliefs and what they feel they must say are original, (said with genuine sincerity).
I understand why people have a tendency to go to these places. I think it’s a combination of their own coping mechanism to deny that which is beyond their control and a desire to truly help and ease the suffering of another. Nevertheless, it rarely translates as compassion let alone empathy. After hearing many people express, “I guess I just don’t know what to say.” I wrote a piece on 20 expressions of support and 10 things not to say, to help them out, entitled, What To Say…
One of the things that helps me and my daughter most is simple listening, acceptance, and presence. We do not spend a lot of time complaining about EDS, but we do spend a significant amount of time managing EDS (which often requires educating others about it).
When someone takes the time to learn about it and demonstrates compassionate understanding for the life style modifications we have to make, that helps more than just about anything could.
What is EDS?
EDS stands for Ehlers-Danlos Syndrome. It is considered a rare (although more likely just rarely diagnosed) inherited, genetic connective tissue disorder.
There are several types of EDS, some believe as many as eight to thirteen.
There is no cure, very little treatment, and type four has a limited life expectancy that’s accurate and close enough that I can’t get anyone to sell me life insurance.
Many people live longer than expected but being alive doesn’t mean being able.
EDS is considered an, “invisible illness.” When people see you looking well, they think your condition is gone; but it’s not, it’s just not always visible.
My daughter and I have two types. We have a very rare variation of type 4, Vascular EDS, which is a mutation on the gene COL3A1. Thus far, there is only one other person documented with the same variation. This person had a AAA (Aortic Abdominal Aneurysm). We do not know if they survived or were diagnosed postmortem as many with EDS are when they die of a ruptured organ, aneurysm or AAA, we just know that he is in the genome database and his mutation matches ours.
Because our mutation is so rare, we don’t know how it will impact our own life expectancy. The common form of vEDS (vascular Ehlers-Danlos Syndrome) has a life expectancy which ranges from an average age of 20-40, although some sites list age 48 and there are at least two women who have been found to still be living beyond that: one in her 50s and one in her 60s who have the typical vEDS.
There is no documented information on our specific Exon mutation of vEDS, which puts it in the category of “unknown significance” which could mean that it’s more serious than typical vEDS, less serious than typical vEDS, or the same. With only three known people having it, at this time, too much is still unknown. However, thus far, my body has followed the typical path of one with vEDS, as my uterus nearly ruptured when I was pregnant, and I had to deliver a month early, as well as the two known aneurysms, evidence of past strokes which have left scar tissue in the brain and three TIA strokes which I have had since 2015.
Although serious problems are rare in childhood, more than 80 percent of patients experience severe complications by the age of 40.
When children die from vEDS, it is usually due to organ rupture from sports, martial arts, accidents or heart conditions. When adults dies from vEDS, it’s usually due to organ rupture, aneurysm, stroke, or infection.
We also have Type 3, Hypermobility, hEDS, the most common type and what most physicians incorrectly think of when they hear EDS, “Oh that’s just means you are flexible.” Wrong. You can read more about EDS Plus, the form of hEDS that we have.
Some people believe that you can only have one type of EDS. These people are mistaken. For example, EDS type 3 AKA hEDS, which stands for Hypermobile Ehlers-Danlos Syndrome, is diagnosed by a physical exam called the Beighton Scale, which basically measures how “double jointed” a person is in addition to perhaps having other trademarks such as soft, velvety skin, thin, translucent skin, stretchy skin, a youthful face but older looking hands and feet, keloids, cigarette paper scaring, easy bruising, mulloscoid psuedotumors, and other facial characteristics that are usually attributed to EDS types 1 & 2 which are often diagnosed at birth.
The other types of EDS require genetic testing which is often a combination of biopsy and blood. The results can take up to three months. Therefore, it is possible to be diagnosed with Type 3 with a physical exam and then months later be diagnosed with type 4 as well, through genetic test results, as we were. When this happens, it could be because a gene has been inherited by both parents which is rare but not impossible.
Connective tissue, which is made of collagen, is the glue that holds the entire body together from head to toe. People with EDS, have defective collagen. This causes their body to literally fall apart: multiple subluxations daily, regular dislocations, and chronic, debilitating pain and weakness.
EDS can attack every area of the body and usually does, including: neurological, autonomic, cardiac, ophthalmological, dental, immunological, dermatological, endocrine, gastrointestinal, orthopedic, hematological, etc. Everything from heart rate, blood pressure, sleep, swallowing, digestion, and more, is impacted.
It’s common to have life threatening allergies, chronic pain, insomnia, migraines, malabsorption issues, digestive distress, aneurysms, weakness, fatigue, heart arrhythmia, low blood pressure, high heart rate, arthritis, inflammation, chronic internal bleeding, resistance to anesthesia, and so much more.
EDS is rarely an army of one, it travels with a gang of comorbidity pals: POTS (Postural Orthostatic Tachycardia Syndrome), MCA (Mast Cell Activation), cranial cervical instability, TMJ (Temporomandibular Joint Instability), Chiari malformation, and others; of which my daughter and I have some variation of all.
One of the most frustrating aspects of EDS is that very few physicians have ever studied it despite the fact that affects the entire body. Each and every specialist that we are sent to and every emergency room we have ever seen, the expert on the disease is often the patient herself.
It’s my job as the patient and the mother of the patient to educate the doctors, the ones who make the life and death decisions about mine and my child’s health. This is both ridiculous and empowering. Yes, I have more of an education in this one area than they appear to, however, I do not have the medical degree or breadth of experience of a physician.
When my daughter was last hospitalized for a collapsed lung (third time in her young life), a team of pulmonologists from all the surrounding hospitals, some renowned, had a conference call to discuss her treatment and care. Not a single one knew that pneumothorax, a collapsed lung, was extremely common with vascular Ehlers Danlos syndrome. I had to pull it up on my phone with a simple google search, that none of them did, before she received correct treatment.
Most physicians have only read about EDS briefly in medical school while glossing over genetics, if genetics isn’t their specialty. Therefore, there are no EDS specialists who treat EDS, only specialists, usually geneticists, who diagnose. Those who suffer, usually have no one person to manage their medical issues other than themselves. I know of only three EDS specialists in the world who go beyond diagnosing and also treat and only two live in this country; although I imagine that number is and will continue growing.
Once diagnosed, you are often farmed out to a dozen or so specialists, each one treating a different part of your body. No one person is managing all medical care, management or medications. This, often deafening responsibility, is usually farmed out to the patient/parent. In the midst of wanting to do nothing more than nurture your child, you must also do the research for the best treatment and then fight the medical administration and insurance company to make it happen.
This is a fatal flaw in our medical system and why, so many people die of prescription drug over doses, it is not standard to have one primary physician who monitors, manages, and regulates all treatments. It’s also one of many reasons that I take as few medications as possible.
Unfortunately (or fortunately), some EDS patients do not metabolize medications very well so they tend to cause more harm than offer relief, which is often the case for me personally. I’d rather have a clear head (as clear as a person who lives in constant brain fog can have) and manage my pain with mindfulness rather than be over medicated. I prefer presence of mind, regardless if I still feel my pain. My body without my mind, is simply no longer me, it’s not how I self-identify.
However, once my pain is a 10, the management of the pain in the body becomes more important than maintaining clarity of mind, and pain medication will not be refused. Thus far, I have reserved these moments for surgeries and particularly painful medical procedures. All of which was much more difficult to navigate and understand prior to an official diagnosis.
It can take decades to diagnose EDS, a diagnostic criteria wasn’t even developed until 1997. In addition to that, so few physicians have been taught that such a disease even exists which can affect everything from teeth, to muscular-skeletal, to autonomic and more. Most people are first misdiagnosed with things such as MS, Chronic Fatigue Syndrome, Fibromyalgia, Lupus, Lyme disease and others.
EDS is usually diagnosed by a geneticist, which one is rarely sent to and must be referred by a knowing physician. Rheumatologists are the other group of physicians who can sometimes catch EDS. Although, I had several rheumatologists from the time I was 13, who never caught it, looked for, or in my opinion, considered it, due to a lack of education about EDS and a tendency in the medical community to dismiss multiple complaints from females as hysteria.
Ironically, the sexism in the medical community rarely denies that when a man has a common cold he has a harder time maintaining his life than when a woman has a common cold, but it is still women who are discriminated against more often in medicine. We have less gender based research funding or interest for health issues that impact only women. The importance that the medical community has placed on men over women is why more drug testing and research is done for men than women, but I digress.
In fact, it’s so difficult to get an EDS diagnosis, male or female, that I do not believe that either my daughter or I would have a diagnosis today if not for the internet. I had never heard of EDS until my diagnosis, but I had read about everything else that I could have had, to the point where my doctors were able to rule those out and finally question EDS as a culprit.
Many of us who suffer from EDS had to do our own research, educate ourselves medically by paying for expensive subscriptions to complicated peer to peer medical reviews and studying these complex medical terms and connections.
My hematologist, as well as other specialists over the years, have said that I (and many of my peers) deserve honorary medical degrees for the mysteries we have uncovered and the Sherlock Holmes connections we have made to help physicians better recognize our condition and diagnose us.
Prior to the invention of the internet, I spent hundreds of hours in libraries and pouring over the Merck Manual at home in bed. Before I was diagnosed, I had been to specialists in at least five of the most highly regarded hospitals, across three states, over 20 years, and had easily seen over 200 doctors.
I had to endure dozens of painful, invasive testing, three exploratory surgeries, multiple biopsies, and more imaging than I can honestly remember. This led to hundreds of thousands of dollars in medical bills that eventually culminated in a medical bankruptcy.
It was all worth it for my daughter to have a diagnosis and be more likely to receive the medical care she needs and not have to go through the excruciating trials and tribulations that I have, but the battle doesn’t end with the diagnosis, that’s just the admission price to the marathon in managing the pain until the end of the line becomes the goal to survival. There is no cure for EDS, only treatments, which largely consist of managing pain.
Each day begins with a pain level assessment on a scale from 1-10. One is no pain at all. Ten is the worst pain of your life. I cannot easily remember a time when my pain was below a five, that wasn’t fleeting. I have never admitted to a pain level of ten. On average, my pain is between a six and a seven. If it’s closer to six, I can be moderately functional. If it’s a seven or more, I need the wheelchair.
Other times I need the wheelchair are anytime I would be expected to stand in a line for longer than 15 mins, sit for two hours or more without neck support, if my weakness and fatigue were particularly high, if I were dizzy or experiencing heart palpitations, or if I had any muscle spasms or dislocation injuries.
Using the wheelchair is a hassle. Even though it is light weight and portable, it’s still heavy and cumbersome for me to wrestle with myself; which means depending on help from others, which I am not always comfortable with. Most often that means my husband and it hurts his back to have to push me in the wheelchair. Eventually, I will petition for an electric wheelchair, but I have to have a car and a home first that can accommodate and justify that expense.
I know to onlookers it is confusing. How is it that I can walk but I can’t always stand?
Why do I need a cane or a wheelchair sometimes and not others?
Walking helps my pain, as long as my blood pressure isn’t too low, and my heart rate isn’t too high and I’m not too weak. But standing makes me dizzy and can lead to fainting because my blood pools and the vessels in the lower extremities don’t always constrict as they should, which can lead to vasovagal syncope convulsions or fainting. When walking, the blood moves around, isn’t as likely to pool which sometimes makes walking easier than standing. It all depends on a multitude of factors.
One of the benefits to EDS is that most of us are on high salt diets. Salt is the main thing that keeps us from fainting, so we tend to carry it with us. There are no easy answers or explanations when it comes to EDS.
There are many youtube videos and stories of others who live with hEDS (hypermobile Type 3) and less of those (mostly memorial pages) who live with vEDS (Vascular Type 4). Sometimes watching a collective of experiences gives a broader picture but of course each experience is personal. There’s also a wealth of information on websites like www.Ehlers-Danlos.com.