Well, here it goes. Today will be a long one but I am ready because of all the support each of you has shown me. If it is more than you choose to know I am sorry and no offense will be taken if you need to defriend me. I will not judge you and accept that we all have to deal with life in our own private way. But here I am ready to break my barrier of disability and tell it all. Thank you for giving me the encouragement to do this!
I am battling two Metabolic diseases. The first is an extremely rare genetic called Glycogen Storage Disease, the version I have is XI. The second is called Mitochondrial Myopathy - if you remember from science class the mitochondrial cells run your body. Mine are mutated due to the absence of my bodies ability to make the ldh enzyme and to process many more. What in essence happens is my mitichondrial cells are now mutated and unhealthy from the attack of this disease.
Unknowingly I have had this since birth but somehow managed to keep it under control. In hinesight many things now make sense! Fifteen years ago that changed and my world turned upside down. Those who know me closely were aware as they could see the day to day changes it caused. I have spent the next fifteen years going from doctor to doctor when it would rear its ugly head to try to find an answer. Of course there were many anything from your mind plays many tricks on you to Multiple Sclerosis to fibromyalgia to unspecified myopathy to my families favorite - "your special or right". Our family learned to cope and we found a new normal, but it wasn't always good. Over the years I would have unexplained hospitalizations or severe illnesses which most people blew through. For me they would set me back for sometimes months at a time. My career in Occupational Therapy helped me so much as I knew how to accommodate disabilities but at times it was a lonely hard road of no professionals who could help.
While living in New Jersey I got closer than ever with the help of my primary physician. Dr. Keri Ingrassia-Squirres. She was the first to realize my odd illnesses were connected and began treating them aggressively and quickly when they came along. She saw me through several rough roads started to make connections to the immune insults.
During this time things were tight at home and I went back to work full time. This did not do my body well and insult after insult started hitting me hard. It was at that point in time I realized I could not continue in the profession I loved, it wasn't safe for my health. Things were also changing at home and my sons had grown and moved away. As a Mom I take great pride in the fact that I grew men who are independent and out on their own as I want them to be. But...with Kevin traveling for work most week and Chelsea not yet driving that left times in my life where I did not have the extra hands of three to help care for me when it was rough. I had a great support group of close friends, a few who knew, but the worries were mounting.
During this period of time my beautiful young niece was struggling with her own illness that eventually linked us forever and in many ways I owe her suffering to my new found diagnosis. She first met Dr. Ambrus from Buffalo General through a referral from a conserned physician who could not complete her diagnosis. She was also diagnosed with a similar disease. My sister questioned the doctor about me and he said, she needs to be tested, she asked another question and his answer was simple "She needs to be tested". No idea those simple words would lead to my "Angel on Earth". I knew then I need the help of family during my weak times and the help of this doctor and so one of the many reasons Chelsea and I moved to Buffalo as Kevin commutes each weekend to here until he finds a job closer.
I contacted this doctor through e-mail and believe it or not - he replied and followed that up with testing he wanted done before he even lay eyes on me. You can imagine this brilliant man mostly research based is in high demand. So it was almost ten months before the pieces of those tests were put together. He looked at my results and within thirty seconds knew the muscle biopsy tests he wanted to do. He referred me to a surgeon who in August of 2012 took a slice of muscle from my left leg that would change my world forever. The result wait is long but in October of 2012 I sat in the office of Dr. Juliann Ambrus as my dear friend Amy diligently was my ears and received my sentence. I had no understanding of what he was telling me but the relief of being heard and diagnosed was powerful to me. He gave me strategies and much more. Mostly he gave me hope and faith for a brighter future with just bad patches as I'm enduring now. He said these words to me that did change my thinking " you need to forgive yourself because you have done nothing wrong, this is your body doing this to you", I cried and continued with" I'm sure you have heard this was in your head or your just lazy but let me explain the people I see in my office. They are type A personailities, they go and go and work through the pain and keep it to themselves. If you were lazy you'd be home on the couch saying its ok I am tired and just live that way. I see people who know something is wrong and are mad they can't do more" Amy then stated "holy crap, that's her". You always need those light moments. So once again my new normal began.
Over the last year with his help I am on a supplemental regiment of about fifty pills and powders a day to trick my body into thinking it produces the enzymes we need to function. I take prescription pills to control the systemic failures it casues such as asthmas, apnea, reflux etc. I have learned to control the lactic acid burn by walking slowly at a snail pace, embraced the use of a handicap tag, nap my muscles two times per day flat in bed and most importantly resist the urge to broach my energy ceiling which only mutates the genes more. I have done Physical therapy, complete food restrictions which ahs helped me to loose 33 pounds in the last year. Amazing I didn't know my body couldn't use the fuel I was giving it. Believe it or not if you had seen me in the last month before October 20th you would have known my new not normal, "but normal to me" was better than I had been in years. My hope was great but that didn't last long. A simple virus that passed my way overnight turned into bronchitis and an ear infection. Most of us would breeze through it and believe me I tried...maybe too hard...but it got me and here I am today telling you my story. My body just kept getting hit insult after insult not being properly treated which lead me to a trip to the hospital and three day stay by medics. Not pretty for your 17 year old baby girl to have to handle. But she did and from there I have been blessed by the care of Kevin, Joann, Karen, Chelsea my extended family and so many friends. If you are reading this- you are one of those friends. Anyone I meet in life is a part of my soul and your kind wors, your acceptance and your support is empowering me to fight this whether it hits me hard everyday or every other year. I love to serve others and I hate to be served but accepting I need it right now will come. The only way I know how to end this is to just ask you to pay forward someone in your life with any bit of information I have taught you. Treat those we judge with respect and give them the benefit of the doubt. You are probably tired of hearing about my "dancing heart" but please go now and "Make someone's heart dance" as you have mine in the last many days of my posts. Don't just absorb it, embrace it and please go use it.
My love to all!!
Annie
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