According to the Genetics Home Reference site, “Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complication.”
What many people don’t realize is that Ehlers Danlos Syndrome has many types and comorbidities tied to it. There are approximately 6 types, previously there were 10: “…the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC)” As described by GHR website. The symptoms are often overlooked and sometimes even misdiagnosed until later years.
All my life I have dealt with a variety of issues. I was diagnosed with Crohn’s Disease when I was 9 years old. I’m now 18 years old and diagnosed with Crohn’s, Gastroparesis, and Ehlers Danlos Syndrome (Classical Type).
Seeing as I was only 8 when I first started showing symptoms, you can see how 10 years later my memory of it all may not be the best. So bear with me.
The first time anyone blinked an eye that I might not be healthy or that something was wrong was after a camping trip with my brother and dad out in Elkins, West Virginia. We had gone out there frequently to camp, hike, repopulate the streams with baby trout and check the pH levels of the water. It was a normal trip for what I remember, of course all I can remember is trying to catch salamanders, as my dad would lift up rocks and branches for me to see them.
When I got home, I immediately went to the bath. That whole summer I had been having issues using the bathroom (although unlike a lot of people with Crohn’s I had constipation instead of diarrhea), but had mostly kept it to myself because despite pain and blood in my stool, I was more afraid of tests and doctors. As I hopped into the tub though, my mother noticed something odd on my buttocks: there was an abnormal spot which for the life of me I can’t remember what she said it looked like or anything about it except that we assumed it was just dirt from the trip or just bad lighting making it look like something was there when there was nothing to be seen.
Now of course, I know I have fistulizing Crohn’s, I assume it might have been an abscess that came and went for many years before it finally ruptured on me in the 6th grade. My mom though was concerned and brought it up with the doctor who thought it was a staff infection and gave me ointment and antibiotics and sent me home, later I was sent back and told I had hemorrhoids (not sure what it had to do with the previous thought of staff but then again I was 8 and so my memory is not the best) and told to use Preparation H which was extremely painful, more so than it should be (due to the severe inflammation in my rectum).
My doctor continued to guess and try different things but they didn’t seem to make a difference, once the school year started things began to get worse. Stomach pains and fevers that left me laying in fetal positions, and eventually sent me to the ER which would begin my many month journey in finding out I had Crohn’s Disease.
Now what is Crohn’s Disease? Well, according to CCFA.org (The Crohn’s and Colitis Foundation of America), “Named after Dr. Burrill B. Crohn, who first described the disease in 1932 along with colleagues Dr. Leon Ginzburg and Dr. Gordon D. Oppenheimer, Crohn’s disease belongs to a group of conditions known as Inflammatory Bowel Diseases (IBD). Crohn’s disease is a chronic inflammatory condition of the gastrointestinal tract.”
I had a special kind of Crohn’s disease, on top of the regular symptoms of constipation, rectal bleeding, severe abdominal pain, fevers, weight loss, fatigue and loss of appetite and nausea/vomiting, I was part of the 1% of pediatric patients who got fistulas.
The best description I could find of fistulas, besides my own were from GastroCentral which describes Fistulas as “(abnormal tunnels between the bowel and other structures), which may develop between two segments of bowel (enteroenteric), between the bowel and the vagina (rectovaginal), between the bowel and the bladder (enterovesicular) or between the bowel and the skin (enterocutaneous). Perianal fistulae (affecting the areas around the anus) are the most common type.”
My fistulas were rectolabial, meaning that the tunnels were from my rectum to my labia. This is a harder type of Crohn’s to manage since many drugs do not help in the healing of fistulas.
So, at age 9 I was put on 6MP. A form of chemotherapy that is used for Leukemia because it is used to lower your immune system since Crohn’s is an autoimmune disease caused by your immune system over reacting and attacking the digestive tract.
The 6MP I took by mouth. The problem though with this medication is that it is extremely harsh on the liver. So I ended up having to be taken off of them after test results came back that my liver enzymes were not looking healthy. I was then put on a biologic infusion every 4 weeks known as Remicade, and then a biologic injection every two weeks called Humira.
While on Humira I got two more fistulas, ended up having to leave school and be homebound from constantly being in and out of the hospital from infections and surgeries. They determined I built up antibodies to the medications so quickly, so I was switched to Cimizia which was two injections every two weeks.
Sadly, I had a reaction to the Cimizia and it had to be discontinued, so I then was put on NG feeds for malnutrition and gut rest. I was not allowed to eat any food by mouth, only through the Naso-gastric tube.
A NG tube is inserted through the nose and down the esophagus into the stomach. I inserted it myself, every 4 weeks I would remove it and replace it, just so bacteria could not get built up on the tube and also because stomach acid can erode the tube over time.
Despite all of these procedures and being on Prednisone, Flagyl, Cirpo, and a handful of other medication I wasn’t getting better. And other problems were arising as well. I was throwing up all the time, which was awful with the tube. My joints were popping on me and dislocating just while walking. I ended up getting pancreatitis from the tube feedings from where my body was unaccustomed to getting nutrition.
After almost a year of being on tube feeds and lab results getting worse, it was decided: I would have to get a bowel resection and ileostomy. Which, thanks to modern technology, would be done lapriscopically through 4 small incisions. They would remove all the unhealthy bowels, and reroute my ileum to the outside of my skin, where I would have to wear an ostomy bag to collect and empty waste.
At 18 years old, this was not really what I wanted to hear. Most students were thinking about prom, about graduation, planning on traveling for college or taking senior trips. And I was looking forward to spending my 18th birthday in the hospital with an ostomy bag to defecate in, not something many people consider desirable.
We really thought it would take care of my issues. Alas, it was far from the truth. I had just gotten off tube feeds when I began to have trouble eating again. It wasn’t entirely something new to me, all my life I had issues with my stomach not emptying at the proper rate. I would take a couple bites of food, and be full for half the day. Now I would eat food and throw up. My body didn’t tolerate any food, hardly even liquids. I lost 30lbs and was down to almost 70lbs at 18 years old.
I was then asked to do a gastric emptying test. According to the Children’s Hospital of Pittsburgh, “Gastric emptying is a test that measures the time it takes for food to empty from the stomach and enter the small intestine.” They give you food, both a solid and a liquid injected with dye and then have you lay down and take CATSCAN photos to see how long it takes for the food to travel through your stomach. Most people can finish the test in an hour. After 4 hours of laying there, the liquid finally started to go through my stomach into my intestines, but after 4 hours no food had moved. They ended up letting me go because there was no point in me laying there nauseated and in pain when the food was not moving.
After my GI, Dr. Lee Denson of Cincinnati Children’s Hospital, read the results he immediately diagnosed it as Gastroparesis. Mayo Clinic describes Gastroparesis as “…A condition in which the spontaneous movement of the muscles (motility) in your stomach does not function normally.”
The typical causes of Gastroparesis are diabetes or damage to the vagus nerve during surgery. Neither was the case. At the same time that this was all going on my GI had just put me on Celebrex for Juvenile Rheumatoid Arthritis, and had sent me to a rheumatologist.
The rheumatologist promptly told me there were no signs of arthritis at all, and instead I had extremely hypermobile joints and diagnosed it as Joint Hypermobility Syndrome. Saying that my joint pain was caused by subluxations and dislocations, my hip was even out of place at the time.
It was rather odd because there was nothing really linking these three things together. I had become close friends with a few girls in a Gastroparesis support group, two with an NJ tube and one who was on TPN (IV) nutrition from entire digestive tract paralysis from Ehlers Danlos Syndrome. I was telling them about my GI’s misdiagnosis about my joints and when I mentioned the Joint Hypermobility Syndrome, Ari asked me if I had ever been tested for Ehlers Danlos Syndrome.
She mentioned that there were tons of comorbidities (health problems connected to something) with Ehlers Danlos Syndrome.
She sent me a link to OhTwist.Com about EDS and Comorbidities. Things such as “Chronic fatigue, Chronic pain, Mastocytosis or Mast Cell Activation Syndrome, Autism Spectrum Disorders, Autoimmune disorders, Gastroparesis, Chiari Malformation, Dysautonomia and Postural Orthostatic Tachycardia Syndrome (POTS for short) which can cause dizziness and passing out, Raynaunds Syndrome, Kidney troubles, Electrolyte Imbalance (often low potassium), hernias, TMJ, Gum disease, Liver problems, Crohn’s and Colitis, Dry Eyes….” And so many more.
Anything with connective tissue was at risk. Out of the list I had so many it was almost laughable. I had chronic fatigue and pain, after genetic testing I found out I may have Mastocytosis in which case my body was allergic to lot of things because my body creates an excess of mast cells which are created during allergic reactions, Autoimmune Fistulizing Crohn’s Disease, frequent issues of getting dizzy when I stand and passing out, Kidney stones, Hypokalemia (chronically low potassium), hernias, onset gum disease, etc.
At the same time, I had been offered a free genetic study for IBD from 23andMe, to look for genes that could be linked to IBD.
Subsequently, months after I had spit into a tube, I was able to program my genome into Prometheus to get my DNA results. It was then I discovered I had genes linked to not only IBD, and Mastocytosis, but also the COL5A2 gene which is used in diagnosing classical EDS.
It was not a big surprise because my dad exhibited all the same symptoms and issues of EDS such as dislocations, sprains, extremely hypermobile joints, easy bruising and hyper elastic skin as well, but said “Ignorance is bliss.”
Ehlers Danlos Syndrome is a rare genetic connective tissue disorder. Often times it goes misdiagnosed because doctors are taught “When you hear hoof beats, think horses not zebras.” (A phrase started in 1940 by Dr. Theodore Woodward)
Zebra is a term that, as explained by MedicineNet, means “In medicine, a very unlikely diagnostic possibility. It comes from an old saying used in teaching medical students about how to think logically in regard to the differential diagnosis: ‘When you hear hoof beats, think of horses, not zebras.’ For example, when someone develops a mild transient cough, a virus infection is the most logical and likely cause, and tuberculosis is a zebra.”
None of these illnesses have a cure. I am now relying on an NJ tube for nutrition because of my stomach paralysis, have an ileostomy, and will have to get a port before starting my new Crohn’s treatment, my friend is dying of sepsis from her central line because of her digestive tract paralysis, we have lost so many people in our support group this year alone from Gastroparesis often caused by EDS. There is a lack of awareness and people are dying for cures. There are treatments for Crohn’s but I’m about to go on my last one, there is zero treatments for Ehlers Danlos Syndrome except treating the symptoms and comorbidities.
So often times doctors do not think about connective tissue disorders (until too much damage has been done) as being the cause of problems often due to the lack of awareness for these illnesses and syndromes, but as the Ehlers Danlos Syndrome saying goes “If you can’t connect the issues, think connective tissues!”
- “Ehlers-Danlos Syndrome.” Genetics Home Reference. U.S. Department of Health and Human Resources, Nov. 2015. Web. 30 Apr. 2016.
- “Crohn’s & Colitis.” CCFA: What Is Crohn’s Disease. CCFA, n.d. Web. 30 Apr. 2016.
- “What Is Fistulising Crohn’s Disease? | Gastrocentral.” Gastrocentral. Janssen Australia, Oct. 2013. Web. 30 Apr. 2016.
- “Nasogastric Feeding Tube : MedlinePlus Medical Encyclopedia.” S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 30 Apr. 2016.
- “Small Bowel Resection: MedlinePlus Medical Encyclopedia.” S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 30 Apr. 2016.
- Dennis, Arissa. “EDS.” Online interview. 12 Feb. 2016.
- ” – Mayo Clinic. N.p., n.d. Web. 30 Apr. 2016.
- “Comorbidities.” Oh TWIST. WordPress, 16 Apr. 2014. Web. 30 Apr. 2016.
- “23andMe US – DNA Genetic Testing & Analysis.” 23andMe UK. N.p., n.d. Web. 30 Apr. 2016.
- “Zebra.” MedicineNet. N.p., n.d. Web. 30 Apr. 2016.
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To donate to G-PACT to support Gastroparesis and CIPO:
To donate to Hypermobility Syndromes Association to support Ehler Danlos Syndrome:
Your donation can make a difference in the hundreds of people’s lives who are suffering and dying from these illnesses.