Sunday, October 20, 2013

On Ehlers-Danlos and Me (part 1)

This post has been a long time in my entire life. I've been thinking it over for several weeks - while in a custom made upper hand and finger brace. Now seems as good of a time as any. I have Ehlers-Danlos Type 3. There, I said it. The journey to getting that diagnosis was a long and painful one, but we now know "what is wrong with Holly." That is the focus for Part 1 of this post. Part 2 will be on the day to day life of living with EDS.

First, what is Ehlers? Wikipedia has the most concise definition: EDS is caused by a defect in the synthesis of collagen, specifically mutations in the COL5A and COL3A genes. The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening.

Type 3: Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes may lead to this variant. Joint hypermobility is the hallmark of this type, with less severe skin manifestations. Joint instability and chronic musculoskeletal pain are particularly prominent in this type. Patients with the Hypermobility Type experience frequent joint dislocations and subluxations (partial/incomplete dislocations), with or without trauma. As a result, pain is a common, severe, and a lifelong symptom of this type. Additionally, osteoarthritis is common, and many get it earlier in life than expected.[4]

Like a typical EDS type 3 patient, my childhood only showed mild warning signs. I scarred easily. My ankles were weak and prone to tweaking when I ran, but rarely to the point of a complete sprain. There was an incident where my left elbow had been popped by my brother and took many weeks to heal. It kept sub-locating and the ever-patient school nurse kept giving me ice and calling my parents. However, they didn't realize what was really going on and the joint stabilized in the two months it took for them to see I really had an issue going on. A bad case of tendonitis in my right hand was next, and it essentially killed off my senior year hopes of a career in music. I barely could make it through the final recitals. Raynauds disease, IBS and a few other things started manifesting itself when I was a teenager, but one really understood. I don't blame them. I was an active child physically and mentally, so youth and activity held things together...enough.

It wasn't until I was in my 20's that the condition started to rear its head a bit more. My arches collapsed, starting a trend of pain in my back until inserts were made. The pain only diminished about half. My hands started having increased pain, even with something as simple as holding a pen to grade stacks of papers. It was when my right hand suddenly swelled up and stayed swollen that the endless line of doctors started. Misdiagnosis after misdiagnosis happened. Doctors kept shoving me into boxes that didn't fit, and I wasn't going to stand for it. I'd take a break, wait for something new to go wrong, and try again. It was during this time that I found Dr. Hannah Phillips aka "my angel doctor." She was facinated by what was going on and became very determined to find out what it was. We started with the label "mixed connective tissue disorder of unknown origin" and started from there. It was hard to pick apart symptoms at first. I have a mild auto-immune condition going on as well. Then the first big event happened....I dislocated my hip. We found a hemangioma next to my spine while investigating that dislocation and my increasing back pain. Degenerating disks and slipped vertebrae were found too. Using family records on top of my own (many of the scattered ones she tracked down herself!) she narrowed it down enough to send me to a connective tissue specialist. The terms Marfans syndrome and Ehlers-Danlos were learned in the coming months. After more tests, I didn't fit the Marfans profile or the more severe EDS varities. So, the specialist did a skin biopsy. More accurately, he -tried- to do a biopsy. My skin and connective tissue were so fragile that the site collapsed, three times. He finally got enough to send the samples off to a lab in California. On my way out, he said "If this isn't Ehlers, I am going to be very surprised."

As we waited, the hip dislocated a second time, the back pain was daily, and the left hand became inflamed with tendonitis. Dr. Phillips did all she could to help me through that and the other "crash and burn" symptoms of someone with both an auto-immune condition and connective tissue disorder. By now she was practically begging me to quit teaching full time. A series of events took place around that time and she got her way. While I started substituting, she started trying to find out what happened to the test results...with no luck. A year and a couple more injuries later and I was finding it hard to even substitute teach. She was now getting onto another of her "hell or high water kicks" (being 8 months pregnant can do that!) and almost two years had gone by of us trying to track down these results. The specialist didn't want to repeat the test, but would if one final push couldn't locate it. Well, she found them, and not in California like they should have been. They were in a lab in Washington state and the results were that I had Ehlers and it wasn't the bad vascular type. They wrote down that it was likely type 3. The timing was perfect, as I had just sub-lux'd my shoulder 6 times in 10 days! Thus ends Part 1 of "Ehlers-Danlos and Me."

#ehlersdanlos #connectivetissue #misdiagnosis #ehlers-danlos #jointdislocations