Thursday, January 9, 2014

It's Official! A Diagnosis 2014

Where do I even begin? All the confusion, frustration, and wondering why all these years finally has an official answer. The emotions are all over the board. From happy to sad to angry. At the end of the day though, the most important thing is there is finally validation because on January 7, 2014 I was given a diagnosis.

How it all played out: 

In November 2013 for no apparent reason my hips started moving in ways they shouldn't. I told my mom about it but pretty much kept it to myself because even I didn't understand why it was happening. I was also noticing I was getting dizzy more frequently whenever I would go from sitting to standing, my heart rate seemed high, and my heart was beating fast. When these symptoms worsened I started questioning again if there is some underlying problem. I began to research and the next thing I know, I was reading about Joint Hypermobility Syndrome and it was like the last piece of the puzzle was finally put into its place. I emailed my medical team and was told if I wanted peace of mind I could see a geneticist to see if in fact this was the ultimate cause of all of my symptoms. The next day I made an appointment with a geneticist and my appointment was scheduled for February 14, 2014.

As I sat on the couch reading about this syndrome, I can't even convey the "Oh my gosh" feeling that gripped me. For seven very long years it has felt like I have been given jigsaw puzzle pieces one at a time and when put together there were still pieces missing and the whole picture wouldn't appear. I felt like nobody understood what was going on with me (except my immediate family) and I felt as though some  family/friends were distancing themselves for a reason I'm not sure of. Giving the benefit of the doubt, maybe it's just people not knowing what to say. I know I've changed the past year and a half. There have been a lot of big medical things between surgery and travel that have occurred. In a matter of 3 months I went from doing relatively well in Colorado to finding out I have bilateral nerve injuries, I need a reverse shoulder replacement, I need scapular muscle reattachment surgery, and I need Botox injections that I am not comfortable getting. That's a lot to wrap your mind around and learn to accept. If my head wasn't filled enough thinking about the upcoming plan of treatment, the more I researched on Joint Hypermobility Syndrome the more intrigued and certain I was that this is the answer I have been looking for to explain ALL of my symptoms.

Sunday, January 5, 2014 the state of Illinois was going to be getting severe subarctic temperatures to accompany the already 20 inches of snow we have on the ground. Schools and businesses were going to be closed the next day. People were being strongly advised to stay indoors. The wind chill temperature was -47 degrees Fahrenheit. Sunday night my mom says to me, "Heck, maybe there will be a cancellation at the geneticists' office tomorrow. You should call in the morning".

Lots of snow

The trees sure do look pretty covered in the snow
Monday, January 6, 2014: Lady Luck was on our side. At 9:00 in the morning I called the geneticist to see if they had a cancellation. The receptionist said, "Let me put you on hold one minute". My heart is beating fast as I am pacing back and forth waiting for her to come back on the line. She came back on the phone-line and said, "Can you be here at 10:30?" I replied, "Yes" and the mad-dash to get out the door officially begun. My mom and I were "running" around the house grabbing all the medical binders and information that we would need. It's a good my mom and I have adventurous souls because man was it cold outside!!! We carefully made our way to the doctor's office. My nerves were racing.

After meeting with the geneticist I was told she would get back to me in the next 2 weeks. Everything was definitely indicative of a connective tissue disorder. She needed to go do her research and go through my medical records to determine what type.

Tuesday, January, 7, 2014 I received an email in the evening from the doctor. I was officially diagnosed with Joint Hypermobility Syndrome (JHS)/Ehler-Danlos Syndrome-Hypermobility Type (EDS-HT). This is a genetic condition in which your body lacks the protein collagen. The type I have is not life threatening. This syndrome causes your muscles, ligaments, tendons etc. to be weak and prone to tearing. Since the tissue is weak it makes your joints prone to subluxations/dislocations. It can also effect other systems in your body. This diagnosis explains ALL my symptoms. From the loose joints to the dizziness. I will be seeing a doctor to determine if I have postural orthostatic tachycardia syndrome aka POTS. There is no cure for EDS-HT...today. My initial reaction was validation, anger, and sadness. How could I've been told this is ruled out and then be diagnosed 7 years later? The diagnosis of EDS-HT is huge. All of the protocols for bracing and rehab would have been different after all of these shoulder surgeries. Even though the proposed treatment plan doesn't change, there is so much weight lifted off my shoulders knowing there is a very valid reason why all of the surgery would last 3-4 months and then fail. I wasn't going crazy all of these years and I wasn't putting on some sort of "charade". The good news is starting today we can look forward and put a better plan into place to get me better. It just goes to show you, never give up and be persistent when it comes to your health. Thank you to those of you that I know and those of you who I don't for all of your support!!

Here is a link if you want to read more about joint hypermobility/EDS-HT: http://www.ednf.org/hypermobility-type


My niece Emily and I at Christmas

Fundraising Link: https://www.giveforward.com/fundraiser/cn33/my-impossible-medical-journey-fund

4 comments:

  1. i was reading your blog and i think your so strong to go through all this. if you ever need someone to talk or relate to im 27 and have suffered a great deal of chronic pain and dysfunction in my shoulders as well. i dont have this syndrome but i have been a swimmer for 9 years and practically destroyed both shoulders. 4 months ago i had a labral repair on the right shoulder requiring four anchors. i developed frozen shoulder after surgery and couldnt move my arm. now i have tendonitis. i also had two emg done my right rhomboid or lower trap is paralysed so im dealing with the scapular winging and muscle knots as well. same issue in my left arm. i was googling about my condition when i came across ur blog. still no diagnosis for me as to why i have significant muscle atrophy.. my email is fnfiacco@live.com. if you wanna talk anytime i can be a good listener and im close to your age. maybe we can be pen pals. i really hope you get better or find soneone who can help manage this condition.

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    Replies
    1. Hi, I'm 31, and with similar issues too. I have had one of the surgeries Megan has had (scapular muscle reattachment surgery to reattach my rhomboids and lower trapezius) after a slip on the stairs + hyperflexible-ex- gymnast shoulders = wrecked right arm/shoulder/side (to summarise!). I have a lot of issues with my nerves too. I started writing about mine on my blog a couple of years ago now (surgery 2 years ago this February) and I couldn't find anyone else talking about it online. Now there is definitely more information and people sharing stories - I think it's really therapeutic because you know that person really 'gets' it - even the most empathetic family and friends are wonderful, but nothing like realising someone else actually feels it too - and even then, everyone's story is different. I think you can email me via my username/ blog, if you would like to do so, please feel free. And best of luck with your journey.

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  2. Hi Megan!

    Who knows why I chose your post from off support a writer. It was one of many. Often I open a post, read a sentence or two and go elsewhere. Not yours,

    We have in common life threatening diseases. I am 70. I have IPF, a disease of the lungs. There's no cure.I go through up's and down's as what is expected. I think of life as, I've lived the life I wanted (for the most part) on my terms and now I can view
    life from a different set of windows.
    My path from age mid-20's has been about brotherhood, and upliftment as well as we are one.

    I am one with you. Be of courage as what you are.

    Belssings

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