Back To The Dreaded List .....

Back to the dreaded list .....

For those who are fortunate enough not to know this, focusing on one's condition and then having to list and describe it in its totality is a devastating and deeply depressing job. When you have to really, and I mean really consciously face your condition, then have to share it, you often go into shock over the enormity of it all. Seeing and consciously experiencing your condition, in detail, all at once is often overwhelming and can plunge you into a deep depression and state of shock. When you have serious and often painful chronic conditions, the way you survive living with them is to shove them into the back of your mind and only pay attention to and deal with those things that are the current squeaky wheels in your daily life. To try and consciously deal with everything concerning your condition on a daily basis is more than any human can deal with before quickly becoming incapacitated by its enormous impact on both your life and psyche. This is often why those who are disabled by chronic illness find it so hard to fill out the necessary paperwork to apply for disability and other benefits. We work so hard to be our best, to make the most of our lives, that to do the opposite in-order to be recognized and validated, in-order to receive benefits, or simply to receive needed treatment, can be to much to bear.

Sometimes, though, you simply have to do it. Sometimes it is good to do it, so that you can see that you are actually doing all that you can do, and are doing it quite well, considering the true circumstances of your life. Those of us with a disability and/or chronic illness are the harshest, most demanding critics of all when it comes to ourselves. So, sometimes we have to step back  and acknowledge our lives and give ourselves some much needed pats on the back, and to forgive ourselves for being only human.

To begin with the Dreaded List, there are some things that need to be understood first:

Ehlers-Danlos Hypermobility - a Definition: For a full definition, please read this POST.

According to the medical article by Dr. Marco Castori,  titled: Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and SystemicManifestations

"Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists ..."

"It is expected that, in the future, the study of heritable dysfunctions of the connective tissue will move from" the study and recognition of only Joint Hypermobility Syndrome to one that includes many other diseases and human biological areas, "as a prominent field of interest. Mostly including fibromyalgia, myofascial pain and complex regional pain syndromes. Comprising xerophthalmia, xerostomia, vaginal dryness, and abnormal sweating. Asthma, atopy, gluten sensitivity, inflammatory bowel disease, and recurrent cystitis are all possible manifestations of an underlying immune system dysregulation. Such an interpretation extends the horizons of the study of heritable anomalies of the connective tissues to a series of bridging phenotypes filling the gap between true HCTDs and (apparently isolated) functional somatic syndromes, such as fibromyalgia, chronic fatigue syndrome, and functional gastrointestinal disorder(s) ... In this context, the unveiling of JHS/EDS-HT molecular basis and the related pathophysiology could have unexpected effects in understanding and, hopefully, better treating a wide variety of common functional disorders, which actually represent a great challenge for the healthcare system of most industrial countries."

So, you can see that this is a complex, overlapping disease with many more manifestations and influences then ever before realized. Because of that nature, Nadine and I have always referred to ourselves as onions. As you peel away one disease layer, you find multiple layers underneath. All of which influence, aggravate, and often mask or behave like other already known diseases. Which also makes writing about it, and especially listing it, very difficult and often makes for a very messy and confusing document.

This is primarily why it has taken me 45 years to get here. That and being both female and poor. In the medical community of the last 60 years of my life, those two things marked you automatically as a malingerer, and possibly someone who suffers from Munchausen Syndrome OR Munchausen Syndrome by Proxy if you have an ill child, as I did. One doctor went so far as to describe in detail, in my records, why and how she thought I was a malingerer, when in fact she was accurately describing a person with regular severe Premenstrual Dysphoric Disorder (PMDD), and debilitating sciatica, from a diving accident at age 13, which was causing a prominent limp. She never saw past her own prejudice. Thank goodness I not only received copies of my records, but also had a great new doctor who read them and also pointed this fact out to me. That wonderful doctor was the first to recognize what I was going through and to begin treating those two problems. After nearly 17 years of suffering from these two problems, it was the first time any medical professional had, not only acknowledge that they were real, but was able to begin treating them. I remember staring dejectedly at the examining room floor, in a deep depression. When she acknowledge the reality of my condition, I looked up from the floor and gave her a look of renewed hope and enormous gratitude. It was a major turning point in my life, and it only took 17 years to get there .........

So, not only does directly facing this illness cause a devastating psychological effect to one's self, actually being able to make sense of it all and writing coherently about it is quite a challenge. And so it is true for me as well. So please bare with me as I crawl slowly towards the posting of our list.

 

Pain & The Doctor!

The next part of my blog is something that I have been struggling over and running through my mind for a long time. The issues is: How do I list and/or explain what my daughter and I have, and what it does to our lives. In other words, what do we deal with on a daily and recurring basis, without out sounding like I am trying to keep score: "Oh look at me! See how many issues I have! See how much I suffer!"

I know that is not the reality, but after years and years of watching doctors and others eye's glaze over and disbelief clouds their faces, as I drone on listing all that my daughter and I have and deal with, it all begins to sound unbelievable even to myself, despite the fact that we are actually living it. For example. When I was 30, I went to see a Neurologist in my home town. He was young, fresh out of school and his internship. He asked me where I hurt. Sitting there, calmly, I smiled and said "Everywhere." He said "Specifically, where?" I replied with "Specifically, everywhere".

He sighed and rolled his eye, then gestured for me to enter the examining room. I layed down and he began a nerve induction test. It is a nasty little test where they stick an electric probe into your skin to tap into a nerve. With me, he stuck the probe into my leg, just below the knee. He then began to use a second needle probe to send electrical shocks through the nerve in my leg from the second probe to the first to measure connectivity. He started at my foot and began to work his way up my leg. He got about half way there, then threw up his arms and proclaimed that I was "In to much pain" and HE could not handle it! HE COULD NOT HANDLE IT! Then he walked out of the room leaving me on the table with the probes still in my leg.

The doctor came back soon after, removed the probes and said to me that he believed that I had a low pain threshold and that I should go to a chronic pain clinic. Understand that this was in 1984, and there were only a handful of such clinics back then. Sitting on the edge of the examining table, I leaned in, close to his ear and said "You are telling a woman who went through 72 hours of two of the worst forms of labor there is, with out any medication, then had a C-Section with only a spinal, that she has a low threshold for pain? I think not!" The look on his face as his eyes flew wide open was priceless. I then accepted his offer to recommend me to a local pain clinic. At that point, having been in constant pain all over my body for 15 years, what could I loose by going to a pain clinic. It turned out to be the best thing I ever did, up to that point in my life.

Funny thing is, that doctor and I became respected friends, and he became one of the leading neurologist in our county.

In The Beginning .......

From the very beginning my life has been hard. Born in 1954 not much was known about the immune system, brain dysfunctions, learning disabilities, and DNA had only just been confirmed to have a role in heredity in 1952. Yet I was born with all these issues and more. Lucky me!

In my search for answers, I was able to receive my medical records dating back to when I was 9 years old and first entered the Kaiser Permanente Medical system. All previous records from Lake Merritt Hospital in Oakland, CA, where I was born, was lost in the Loma-Prieta Earthquake in 1989.

According to the intake notes from my Kaiser medical records, my mother told the doctor that I did not talk until I was three and a half years old, and now they can not shut me up!. I learned the word "loquacious" at a very tender age. Yes, apparently at age 60 I still talk a lot. People still say "Boy that woman can talk!" And yes, you will get that very point as you read this blog ... LOL

I am starting at the beginning because this is about a journey, not just a medical condition. How boring would that be! Throughout the years, as people have learned and heard my story, they often say I should write a book about it all. I have never felt, however, that there was a full arc to my story. I often felt that there probably would never be one and I would die with so many questions and mysteries about my life, and my daughter's life, undiscovered. No end or climax to our story; no payday, so to speak. Until now.

About a month ago, I discovered a peer reviewed medical article publish in 2012 that tied together all the bits and pieces of our condition and family history. Though I had come to the same conclusions nearly a decade ago, I could not prove it. Now this article, and the genetic research stemming from these discoveries, has changed everything. It may not provide the answers in my life time, but it is the first pay-dirt of this magnitude to be found on the multifaceted, and multi-systemic nature of Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT). Here is the link to this life changing article:  

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512326/

  

Walking Through The Fire

This blog has come about out of the necessity to be understood; to try and illustrate, through words, the reality my daughter Nadine and I live. This is not an up beat blog. No cheerful stiff upper lip encouragement, or hopeful dangling carrots here.

This blog is a chronicle of our journey through the hellish fire that is our lives. In writing this I wish to both illuminate and educate, as well as make available the latest in medical research and therapies. No, I do not have the answers, nor the cure, but I do have extensive experience with not only being chronically ill myself, but raising a chronically ill child at the same time, mostly on my own.

Will this blog be depressing? Yes and no. There will be humor, hopefully lots of it. For one thing I do know is that this kind of suffering can kill you, or you can learn to laugh, and seek out the joy that can be found, or made, all around. My daughter and I, well, we choose the laughter, and sometimes, we even get to have real joy.

I guess I should inform you that this is not a blog simply about Ehlers-Danlos Hypermobility Type, but also about the multiple systemic diseases and conditions that go along with it. Here I will also talk about the other genetic conditions that have plagued my family for generations, and have left the female side of my Italian family suffering in the dark, alone, without ever knowing why.

I call this Walking Through The Fire because that is what it has been like these past 60+ years living with this inheritance. The cruel nature of this cluster of diseases is that we did not find out that it was genetic until 2008. It is not clear cut, nor does it follow a set pattern. It simply looks like you have several, or as in our case, lots of what seem to be "run of the mill" common, well known diseases. They are not. Finding that fact out has taken me 45 years of dogged research, experimentation, therapies, and tests. Mostly done or pursued by myself: in libraries, doctor's offices, and then finally, on the internet. I now have a team of doctors, therapist, and at least three geneticist who are either working directly with my daughter and I, or are assisting and advising us in our search for the answers on a medical and genetic level.

Now ... where to begin? .........