Ehlers-Danlos…what the heck is that??

May is Ehlers-Danlos awareness month so I want to help spread awareness. Most of the time when I tell people my kids and I have this condition, I get a blank stare followed by something like “Adam Sandler who????”. Yeah, it is a bit of a mouthful to say. I am going to tell our story of how we came to know we had this genetic condition. It is a bit long, but please take the time to read it. Getting a proper diagnosis with this condition is grueling, and people usually suffer for many many years before they get answers. So read, and become aware…and forgive any typos, this is hard for me to write, because I am reminded of the years of mental anguish I went through trying to find answers and make my kids better. There are red links throughout this article for more information.

Let me start by saying the mascot for Ehlers-Danlos Syndrome is the zebra. “When you hear the sound of hooves, think horses, not zebras.” This phrase is taught to medical students throughout their training. In medicine, the term “zebra” is used in reference to a rare disease or condition. … Ehlers-Danlos syndrome is considered a rare condition and so EDS sufferers are known as medical zebras. Let me tell you our zebra story……

It all started when my daughter was a baby. She seemed to always be sick with a cold or other virus. She also had strep throat at least once a month. She was sick every holiday, every single holiday. And when she was sick, it wasn’t mild, she had very high fevers. Getting immunization shots even gave her 105 degree fevers. One day, during a graduation party we were having at our house, she went from a happy kid playing to lethargic and unable to hold up her head in a matter of 15 minutes. I rushed her to the car and drove my very large SUV 100 miles an hour into Albuquerque to the ER, in the snow and on icy roads. She was very very ill. The doctors did blood tests, gave her fluids and meds and stabilized her but were unsure what happened, so they sent her home. They sent her blood to be cultured and 2 days later I got an urgent call that my daughter had pneumococcal bacteria in her blood and she needed to go back to the hospital immediately. She was feeling a bit better, but we rushed in….she was septic. Now, she had been immunized against this bacteria and her body did start to fight it, but she required an enormous amount of antibiotics to completely clear it.

Then, another doozie….she developed what looked like scarlet fever AND rheumatic fever, and she had symptoms of both, so the doctors were very confused. She had a rash that looked like scarlet fever, but wasn’t rough sandpaper texture like it should be. She also had red swollen joint pain that was migrating from joint to joint, like rheumatic fever, and she had a very high fever. I had taken her to the ER by advice of her doctor. We sat there for hours and were not being seen, so I called her doctor. He advised us to take her home, as it was like 4 in the morning, and call an ambulance if her symptoms progressed. Otherwise he wanted to see her first thing at 8am. We took her to her pediatrician, and he was not sure what he was seeing, and sent her back to the ER and forced them to take her in immediately. This is when they tested for strep and found nothing. She went to see a cardiologist because of the risk of rheumatic fever, and they determined her heart was fine. There was never a real answer to this illness, and the doctor’s best guess was that she had a form of toxic shock syndrome. They theorized that she had defective tonsils and they were harboring harmful bacteria thus causing the toxic shock syndrome. So when she was 5 her tonsils were removed and she stopped getting sick constantly…..but the problems were only beginning.

Ehlers-Danlos syndrome seems to have it’s symptoms “triggered” by illness. This is a theory and not proven, but it seems to fit. My daughter began having severe nightly joint pain after this, it was so bad she cried herself to sleep at night. She also developed daily chronic hives that would flare up with pressure or temperature change and made her whole body red and inflamed. Then she developed tremors so severe she had to stop playing her violin. Then there was restless leg syndrome…..then there were the vision problems….loosing color vision, seeing very blurry and so on and so on.  Oh, and then there were the heart problems…her heart rate would randomly get super fast, so fast I couldn’t take her pulse, and I slept with my hand on her heart at night, fearing it would stop. Then came the stomach problems. She would get so bloated she look pregnant, and her intestines would spasm so bad that it looked like someones knuckles dragging under the skin of her stomach….we spent so much time in the ER and with specialists and got no answers.

So what did I do? I took her to doctor after doctor with no answers for five years. Rheumatologists found nothing. I have a binder 7 inches thick of medical records tat felt like a mountain. Some doctors said it was all in her head. She had to take medication for the hives, and I found that peppermint helped sooth them. She carried a portable EKG that would transmit any events over the phone, and she sometimes wore a 24 hour EKG. She got diagnosed by her optometrist with convergence insufficiency and wore prisms in her glasses for a year then received vision therapy to correct it.  Her doctor put her on a large dose of B vitamins and her tremors and restless leg syndrome mostly stopped, but he wasn’t sure why she needed so many B vitamins…way more than the average person. But the joint pain persisted.

Then she fell and landed on her hip one day. It hurt, but she went on with her day. By the next day she could not bear weight so we went to the ER then the orthopedic doctor. He put her on crutches and told her to rest it as there was no break. After weeks and weeks she still could not walk, and her foot started turning purple and cold and started to swell and have skin texture changes. They admitted her to the hospital thinking her hip had a hidden break. They did every scan possible and found nothing. Her diagnosis was complex regional pain syndrome, also called reflex sympathetic dystrophy syndrome. This is when the body over reacts to an injury and can shut down blood vessels, cause limb swelling and severe pain. Here is a link on more info. They immediately put her in physical therapy to shut off the process and keep any damage from becoming irreversible. She also developed raynaud’s syndrome during this time, and her fingers and toes would go white and completely numb and cold, so bad they hurt. Then at age 7 she developed scoliosis and was monitored until a few years ago, when they decided she needed to wear a rigid scoliosis back brace 18 hours a day because it was progressing…then pectus excavatum reared its ugly head and required her to wear a suction device on her sunken chest 2 hours a day, in addition to 18 hours a day in a horribly uncomfortable back brace. Below are pics of examples of the type of brace she has and of the device she wore on her chest. The pictures are not of her.

So, I was not happy with the idea that she could have all these rare things happening without them somehow being linked! How is this possible! So I searched and searched and was going to take her to Mayo Clinic. I was connected with a patient advocate from my insurance, and let me tell you she was amazing and super helpful. She researched with me, cried with me and helped me to find the right doctors. We eventually saw Dr. Cushing, a geneticist at UNM hospital. It was that day, as we sat in his office, that we finally got an answer. Ehlers Danlos Syndrome….it explained everything she had been through…we finally had an answer! All of the rare conditions she has are linked under the umbrella of Ehlers Danlos. She passed the Beighton Criteria with flying colors. The geneticist gave us a book to read that was amazingly helpful.  Here is a link, I highly recommend it.

So, all this time, her joint pain was her sublaxing her joints. We finally found a sports chiropractor that could put her limb joints back in place. We found her when my daughter sublaxed her tibiofibular joint and her doctors could see on x-ray that it didn’t look right, but didn’t know what to do because it wasn’t a full dislocation. My daughter was on crutches 9 weeks, which triggered another complex regional pain flare….grrrrrrr. The chiropractor was able to put the joint back in place with a loud clunk! We still see her to this day!

So, we had a diagnosis, and my other kids started showing symptoms, were evaluated and also diagnosed. One son developed the chronic hives and convergence insufficiency. My other son developed convergence insufficiency. He also passed a kidney stone at age 7 and had a migraine that completely blinded him for a week a few months later. He continued to have a severe complex migraines every two weeks and his neurologist feared he could go blind permanently because he kept loosing vision.

He had to see a nephrologist because of the kidney stone, and he told us he had Hypercalciuria. This is a condition where there is elevated calcium in the urine. Chronic hypercalcinuria can lead to decreased renal function, nephrocalcinosis, and renal insufficiency. Patients with hypercalciuria have kidneys that put out higher levels of calcium than normal. This was devastating to hear, but he did offer a possible treatment with diet. He put him on the paleo diet, which ironically I had been trying to do myself for about a month. With paleo, it’s kind of eating like a cave man.

Guess what happened with the paleo diet? My son stopped producing crystals in his urine and his urine calcium decreased dramatically. His migraines also came to a screeching halt! But that’s not all! My other son stopped having daily hives, and ALL of my daughters symptoms started going away one by one. She also went from sublaxing a joint every week to maybe 3 a year. Her tremors required less and less B vitamins to stay away, her hives cleared up completely, and her heart rate issues got better. The heart problems first started getting better after I figured out she had POTS (Postural Orthostatic Tachycardia Syndrome) on my own with research, I called her cardiologist and suggested this diagnosis…he said “well, I think you might be right on that one! Give her extra salt and that should help her symptoms”. I was so angry that he missed this diagnosis, and that the treatment was as simple as extra salt which helps keeps the blood vessels filled and eases the symptoms. I was soooo angry that I fired him and found a new heart doctor for her. He had seen her for 5 years and missed the diagnosis. UNACCEPTABLE! We found that gluten makes her POTS return with a vengeance so paleo diet definitely helps a ton! She still wears the scoliosis brace, and has rare occurrences of Raynaud’s if she showers when its cold or is in the cold for a long time. She has mild tremors if she is sick, but nothing like before. She still has some stomach issues, and can’t eat tomatoes during allergy season, but the pain is well controlled and rare. She is pretty much living a normal life now! Paleo diet has given all my kids their normal life back!

So since changing to paleo, my symptoms also improved, since my kids inherited Ehlers-Danlos from me. I no longer needed glasses because apparently my eyes were retaining water along with my body. My pain started getting better. And I had an explanation of why I had the spine of a 60 year old. The only kid to not show Ehlers-Danlos symptoms is my youngest son. Although he does have loose ligaments in one shoulder, he still does not meet the criteria. I honestly think that this is because he has only ever eaten paleo diet, and I will research that and do a post later. Thank you for reading our story and learning more about Ehlers-Danlos syndrome. I have a link to a paleo guide on my quick links page, and I highly recomend this book to learn about the paleo diet.