Lhunpaurwen's Ramblings

Today was a good day. I finally got the answer I have been waiting so long for. I have Ehlers-Danlos.

The missing link to my medical mystery and what is likely the root cause of the many years of medical problems in my life, from the more current to those reaching back to my childhood.

It was confirmed by a leading geneticist from Tulane Medical's genetics department after a thorough and extensive evaluation by him and his colleagues.
For those not familiar with it, Ehlers-Danlos (EDS) is a genetic disorder that effects collagen. Collagen is the main structural protein found in connective tissues of animals. Literally the "glue" that holds everything in our bodies together. It is found in everything in our bodies; Organs, ligaments, tendons, bones, cartilage, blood vessels, teeth, eyes, skin, everything.


https://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome


There are various types of Ehlers-Danlos, some worse and rarer than others. Ehlers-Danlos is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. Some forms can be identified by genetic markers, and some have not yet been identified. It's a lifelong, painful condition with no cure.

Yet I cannot express how relieved I feel to know it is indeed the missing link.

Having leading experts in the genetics field acknowledge my concerns and confirm what I suspected (and questioned years ago to other doctors only to be dismissed)... to finally have some kind of closure and explanation to why it never got better when doctors promised it would.

Going in expecting the worst... to be seen by another doctor who wouldn't listen and would just blame Fibromyalgia despite my clear clinical history. That scenario happened so many times over the years I lost count.

These doctors not only got my medical record ( you'd be surprised how many doctors I have seen who never did or never looked at it fully even when offered ).... and read it. All of it.

I mention something I wanted to be sure they knew ( and wouldn't know unless they read my history) and they responded not only saying they "read that in my file" but then made another random comment based on something else they read (that I had not brought up).... I almost broke down crying right there because it's been so long since I had a medical professional do that. Know me and my full medical history. Which is really sad to say it is not more common.

I knew in that moment it was all worth the fight to get this far.

They listened. We thanked them more than we have ever thanked any medical professional.

Now the battle for disability and Medicare really begins.

A sad story shared in one of the chronic illness support groups I watch. This is the reason why it is so important to be your own advocate. You know your body best. Doctors don't always know everything. This sort of thing is what worries me and so many others dealing with chronic medical conditions that are not fully understood. Something gets missed or brushed off or misdiagnosed, and you can pay for it dearly in the long run. If something had been done sooner, this poor girl may not have suffered near as much as she did.


"A hospital has been forced to apologize to the family of a teenager who died after doctors dismissed her suspicions and told her to get off Google. Her and mothers pleas for her symptoms to be reviewed fell on death ears."



http://www.ntnews.com.au/news/world/teen-bronte-doyne-dies-of-rare-cancer-after-doctors-tell-her-to-stop-googling-her-symptoms/story-fnjbobed-1227402045732

Good news everybody! ::Saracasm::


I have officially been diagnosed with Sjögren's Syndrome!


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---For Those Going WTF Is That?---

Sjogren's (SHOW-grins) syndrome is a chronic autoimmune disease in which your body’s immune system attacks the moisture producing glands of the body.

Sjogren's syndrome often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first, resulting in decreased production of tears and saliva.

The two main symptoms of Sjogren's syndrome are:
Dry eyes. Your eyes may burn, itch or feel gritty, as if there's sand in them.
Dry mouth. Your mouth may feel like it's full of cotton, making it difficult to swallow or speak.

Some people with Sjogren's syndrome also experience one or more of the following:

Joint pain, swelling and stiffness
Swollen salivary glands (particularly the set behind your jaw and in front of your ears)
Severe dental issues
Skin rashes or dry skin
Vaginal dryness
Persistent dry cough
Chronic Bronchitis
Dry sinuses or sinus issues
Prolonged fatigue

It may affect other organs of the body, including the kidneys, blood vessels, lungs, liver, pancreas, peripheral nervous system and brain.

For more info, see:


http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome


http://www.sjogrens.org


http://www.mayoclinic.org/diseases-conditions/sjogrens-syndrome/basics/definition/con-20020275


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While it isn’t a good thing to have, it is a huge relief I finally have a doctor who is recognizing that there is more than Fibromyalgia at work and trying to help me fix it rather than just masking symptoms with medications.

As of now, I have been diagnosed with two clearly recognized autoimmune disorders occurring on top of Fibromyalgia and my Dysautonomia. Having a doctor acknowledge that is huge. It’s only taken 10 years to get this far.

I asked him about the disability application, and he is totally 100% on board and told me how some of it would work, as far as how he’d get paperwork to fill out after I submitted my application. He renewed my permit, so I now have a permanent disability parking permit. It actually comes with a little ID card here in Louisiana. Apparently some states use it to verify you are the tag owner.

Only thing he didn’t do, which bummed me, is he didn’t give me another shot in my wrist. He said after what happened last time ( me passing out ) he wanted to try something else. So I got a topical instead, which has to be specially compounded and sent to me. I’m hard pressed to think it will work, but I’ll try it before I knock it and beg for the injection again.

I finally have hope that things are taking a turn in the right direction with all this medical crazy I have lived with for years.


I will still need people who are willing to write on my behalf for the disability application. If you already have ( thank you guys again SO much! ), I plan to use those.

If you are willing to write a statement, please let me know.

I’ll be starting this whole process in January, after the holidays.

I am ready to kill someone. I have been fighting with this Medicaid determination nonsense and jumping through their hoops and sending them everything they have asked for, for months. I applied back in November. I had to call repeatedly and ask them for updates on the status because they never sent me additional information in the mail or called me. They kept telling me "It was under process and review in Baton Rouge". This run around happened for almost 2 months, with me leaving messages and not having my calls returned. Then I *finally* managed to catch the woman supposedly helping handle my case on the phone, and she tells me the same thing again.. and at that point I blew up, telling her the "coverage" they stuck me with "in the meantime" does NOT have prescription coverage for medications I need to function like a normal person. And there was a pause on her side, and then she says "Well we're still waiting to receive your medical records from Mayo Clinic. We sent 3 requests."

Excuse me?! So you have been waiting for records over a month, never got anything from them, and *never* bother to contact me about it? I was livid, and I expressed such.

Thus I had to go and call Mayo myself, and get bounced around between their departments, but not a single one that was relevant for medical records requests typical of the kind Medicaid offices send, had any requests of that nature on file.

In other words, they had never been contacted by Louisiana Medicaid asking for my records. So either they never did it, or they sent the request to the wrong place somehow, repeatedly.

So I kindly requested the correct info direct from Mayo, and then called the woman back and gave it to her so she could request it again. So once again I give it a week, because it was the weekend by then. Nothing heard back, I call and leave a message, no response. I wait, and I call and leave another message clearly asking if they had gotten my medical records from Mayo, and requesting a callback and offering my number.

I finally got an issue with my Mayo online patient portal cleared up, and I can access certain condensed versions of my medical files. So I call the woman back again, and get her voicemail again. I leave another message asking again to be contacted so I know they got my Mayo files, and I asked if they had not, could I try and get some of the relevant files from my patient portal and send those instead as proof of my medical conditions.

They still haven't called me back as of Friday. Then Saturday I get another letter in the mail dated for the 19th stating they needed me to resend my bank statement info because what I sent before wasn't adequate enough ( it's an online only e-check account, so yeah ). No mention of *anything* else, not telling me they got my message or medical info, just requesting I resend the bank statements.

Now today I get something dated the 20th, literally the day after they mailed the other thing, telling me they have determination I am not eligible. *Before* I have even sent them the remaining info they requested.

My blood is boiling over the aggravation and stress this has put me through, on top of the burden of trying to come up with $500 per month *before* the Cymbalta generic came out, and now still having to pay $300 a month for the generic of Cymbalta. I had to cut my dose in half so I could safely taper off of it, because my family can't keep struggling to scrape out that much money that none of them have for something that used to be almost fully covered by my damned Minnesota state aid healthcare.

It is clearly obvious these people are either complete idiots and the left hand doesn't know what the right hand is doing, they are intentionally doing this to screw me ( and who knows how many other people ) over, or all of the above.