Fighting the unknown ……. Stiff Person Syndrome x

I am led here in my bed, hunched in a ball , wondering how or where should i  start……..how do i explain my story, of my pain and suffering due to the rare autoimmune disease, Stiff Person Syndrome. So i figure, the best place to start is at the beginning  🙂 

I was living my life through rose tinted glasses, forever living in a fairy tale, grasping every opportunity that came my way. I had such high expectations, i aimed each and everyday to be the best that i could be.( Those that know me well, will tell you i am a perfectionist lol )  I  would never admit defeat, giving up did not exist in my vocabulary ……. i always made the impossible, possible. That is who i was, and that is who i still am. I absolutely, point blank, refuse for Stiff Person Syndrome to rob me of my life. I am not ready to die, its not my time. I have three beautiful, precious children that i am fighting to stay alive for. My children (or tots as i call them ) need their mummy, as well as their daddy. By no means am i leaving this earth, without seeing my tots grow up!  My greatest wish is time, which stiff Person Syndrome is taking without my permission. I want to be here to steady my tots if they stumble, share their laughter, wipe away their tears. i want to see them learn , love, smile and play. I want to see them graduate, pass their driving test, fall in love, have a family of their own……………..i am begging for the chance to be their mummy……………i am pleading with Stiff Person Syndrome, not to steal my tots mummy away from them. They are still so little, age 4, 6 and 12 years old. They need me, as much as i need them, i sob into my pillow every night wishing and praying for this nightmare to end. 

 

Looking back, i can tell you the exact date, my life was shattered by this very rare, one in a million, autoimmune disease , Stiff Person Syndrome. It was a beautiful summers day, 7th of June 2009., my husband Jason had already left for work, and i was getting up to feed our 8 week old new born baby boy, and to get our one little girl ready for school, and our other little girl ready to go to a mummy and toddler morning. That was the day my whole life changed………my whole family suffered the impact of Stiff Person Syndrome with me. Over night, i went from being an active, healthy, ambitious post graduate…………to a 28 year old mummy of three who could barely lift my head off the pillow, or stand up to cradle my baby. i was overwhelmed with fatigue that was so server it is indescribable and spasm shooting in both of my legs , making it impossible to stand. it was from this day, until the moment i lay, crying here now, that my life disintegrated , no matter how hard i fought or willed it away, my symptoms continued to escalate until i am left bed bound.. 

So how did this happen??? How did i go from a young lady who was deeply in love with her childhood sweetheart, a busy active mummy, someone full of hopes, dreams and aspirations for the future………….to being bed bound???   STIFF PERSON SYNDROME

After a few misdiagnosis of, Post Natal Depression, Fibromyalgia , server Chronic Fatigue Syndrome, Lupus. i was finally diagnosed with Stiff Person Syndrome in March 2011, based on my clinical presentation and i tested positive for Anti GAD Antibodies at an extreme high level of 2000>

I have tried different medications, mostly my body has an adverse reaction to. I continued to deteriorate, my spasms/ cramps, traveled from my legs, right the way through my body, including my face, brain, and respiratory system.. During a very prolonged , server spasm in October 2012, i stopped breathing. My husband recalls me being like a “rag-doll”.  I was no longer stiff, ridged, in server all over body contractions………….i was limp, floppy,my lips blue, i was dying in his arms.  By a twist of fate, my district nurse at the time called in unexpectedly. She phoned for an ambulance and i was rushed to our local hospital. my spasms were becoming more and more aggressive, requiring intravenous Diazepam , Madazilam and oxygen to keep me breathing. I was having 4-5 spasms per day, some lasting for many hours at a time. It is the most horrific pain imaginable. It is like every bone is being snapped, every muscle torn, internal organs harden with the sever contractions , making it impossible to breath unaided. My husband stayed with me around the clock, as he was the only person who knew how to touch and move me during a spasm, without causing  further damage. Just like being at home, Jason washed me, changed my clothes, carried me to the toilet wiping me and changing sanitary towels when needed. I had completely lost every inch of Independence, dignity and self respect.. Stiff Person Syndrome  was, and still is, like trying to fight a ghost. 

I was transferred to London , Queens Square, A specialist hospital in neuroscience and neurosurgery. Here i had a Lumber Puncher , which confirmed  that i did not only have Anti GAD Antibodies in my serum, but also had crossed into my central nervous system. Stiff Person Syndrome was confirmed by a second leading neurologist, even though my symptoms were becoming extremely dangerous, aggressive spasms though my body and sever effects on my respiratory system,  I was no longer referred to as a “typical” patient with Stiff Person Syndrome, as i was and still am deteriorating rapidly.

I spent 5 week in London with my husband taking full care of me. he slept on the floor every night with me in a private room. I couldn’t tolerate any sudden sounds, light,cold,  movements, anything  could trigger a spasm.  Jason kept a daily diary of the medication he was giving me, recording my spasms, he would control the oxygen and OBS machine, he was my Angel 🙂 To this day i do not understand why the hospital staff did not care for me, so Jason could come home to our tots. They were staying with my sister , who loves them dearly, but our tots should have been allowed their daddy to come home to be with them, bless their little hearts, but no one knew how to deal with my spasms like Jason. It was in London i received my first  Plasma Exchange, a known treatment for Stiff Person Syndrome. I had 5 days of 3 liter exchange,  I must admit it wasn’t an easy treatment for me to tolerate. It is a very invasive procedure, which caused my blood pressure to drop dangerously low, along with my oxygen and heart rate. I have a video and photo that i would like to post so you can see a snap shot of one of my spasms in London and a photo of my Plasma Exchange  central line. Three days after i completed this treatment, i was able to straighten my legs by my own free will. This was close to a miracle for me, as i had been hunched up into a fetal like position for five months, except during a spasm that would force my legs to straighten through vigorous contractions, then my legs would be forced back into a hunched up position again. I was then transferred back to my local hospital where my husband and i remained until December 23rd 2012 . We had to fight with everything we had, to enable us to be home with our tots for Christmas, it had been 2 months since i last saw them. It was a very emotional time, gosh my heart was breaking, all i wanted to do was to cuddle my tots, for the nightmare to end. I remember Jason and a beautiful lady,a patient at the time, who i am still in touch with now, ordering presents online and them both wrapping our tots gifts, in between the mayhem of my spasms. Even though the Plasma Exchange significantly reduced my episodes, so to speak. I would still randomly be tormented with them, i was still completely bed bound. I was finally allowed home with a hospital bed, oxygen and a written protocol  that Jason has to follow with regards to my care during a spasm.

Still extremely disabled, I was admitted into the Heath Hospital 7 times in 2013, where i followed a devised treatment plan, put together by a Consultant in London and my Neurologist at my local hospital. i continued to have another three rounds of 5 day 3 liter Plasma Exchange, followed by 3 rounds of IVIG. I wish with all my heart i could say that i am doing much better, but that would be dishonest. Right now i am fighting for my life. Why ? i hear you ask………..well let me tell you. The results of the second Plasma Exchange was life changing. i even went to my sweet cousins leaving party, i danced, granted yes i was held up on either side by my girys lol, but i danced for the first time in 4 years. I have a photo i wold like to show you, i was so happy. However, the tears are slowly trickling down my cheeks now just thinking of how free i felt, to see and feel what it was like to live again. I couldn’t wait for the third round of Plasma Exchange, as i was excited about further improvement with my Stiff Person Syndrome symptoms. The process is certainly challenging, but it was worth it for the benefits afterwards . To be able to watch my tots run and play in the park, to snuggle up with a hot chocolate and watch my tots feed the ducks and swans………such a beautiful dream i lived for a little while……..until disaster struck on round four of Plasma Exchange. It was a poor line insertion, however it lasted my whole treatment course. On the line removal , blood was poring from where  the central line had been removed, blood was pouring out of my mouth and nose……..i suffered cardiac failure. The last i remember was the doctor trying to insert a needle into my arms, hands, feet and shouting for someone to find a cubicle, my body was shutting down. 

The disaster of the technical fault of the fourth Plasma Exchange, set my body back ten fold.  Even after having three rounds of IVIG , in  October, November and December of 2013, has not been enough to give me a better quality of life. My body is deteriorating so quickly, my Stiff Person Syndrome symptoms are having a devastating  effect.  I have not been given any hospital treatment since December 2013……..i am slowly dying. i am begging my Consultants for help. I am willing to try or do anything they ask of me. I was told in January 2014 that i needed to be admitted ASAP, this was then opposed until i saw my new neurologist, so i waited to see him and he also said i  needed admitting within a week. He wrote up a treatment plan for 1 round of 5 day 3 liter Plasma Exchange, followed by 6 rounds of IVIG every 3 weeks , whilst we record improvements and put in an application for Chemo. Goodness , i cant put into words how relieved and happy i was, maybe a little apprehensive………but he was going to help me :).  

I couldn’t have been more wrong. My promised treatment plan has since been abolished, i am still at home, left in my bed , in and out of spasm. Stiff Person Syndrome is killing me. With each spasm i suffer respiratory failure. Jason has to monitor my oxygen levels and increase it when needed, even resulting in him pumping my chest to help me breath. I am choking during spasm, vomiting, coughing up blood because my lungs are contracting so hard.. i am screaming, crying unknowingly when i can breath again. When the spasm releases from my eyes, i can see the look of fear on Jason’s face………is this the time i will die in his arms?

Jason has tried contacting the hospital, but no one will help. He just keeps getting told that this is a complex case. I have been left 4 months without any hospital treatment, when i have been told by three consultants in the last 3 months that i need to be admitted for treatment ASAP. My only hope now is a Stem Cell Transplant, but it has never been done in the UK for anyone with Stiff Person Syndrome. So my only option is to leave the country and privately fund my treatment. So i am looking into Canada, Australia, possibly Colorado, even in these countries it is still classed as clinical trials. But i am willing to do whatever it takes , i need to get my voice heard, i am suffering in silence and slowly dying. So i am wishing with all my heart that i can get my story for go globule 

I do not have the strength to fight the ghost of  Stiff person Syndrome any longer. I need to do something before its to late  

much love

nerri  xxx