National Plasma Shortage

There is a national plasma shortage.  Given this, the company making my tolerated brand of IVIG is back ordered. Treatment has been suspended and I may need to test an alternative treatment as most alternatives brands are also back ordered.  Patients all over the U.S. are starting to receive similar calls.   Seriously, did I walk into a mirror universe or wake up in a futuristic movie?  The knowledge is surreal and I learned about it in a cancellation phone call from the infusion center.  

What I know:  It takes six months to make a dose, of immunoglobulin and plasma donation from 1,000 to 10,000 healthy donors per batch.  Plasma is used to create a variety of life saving treatments and therapies for people with rare and chronic diseases and disorders such as primary immunodeficiency, hemophilia, cancer, genetic lung disease as well as treat traumas such as burns and shock.  

Of qualifying donors only a small percentage give blood or source plasma.  I would venture to guess many have simply never considered it.  I never thought to ask for donations when I started receiving biological therapy.  Donating plasma is not the same as donating blood. You must go to a certified plasma center and it may take up to two hours; however, side effects are relatively mild, dizziness and fatigue. This is typically countered by replacement fluids given intravenously at the time of donation. 

As we have increased knowledge of the potential benefits from biological medicine, supply simply cannot keep up with demand.  If you can donate plasma and/ or raise awareness for the need of new donors please do.  I understand this to be the first time we have faced this level of shortage, despite seeing year over year growth in donors the last couple years.  

Conversation on this topic should be had in a larger forum in order to raise awareness and in turn seek ongoing commitment from eligible new donors.  

Thanks for reading. 

"The eyes cannot see what the mind does not know." - Unknown

Reading articles like this one about a young woman battling Ehlers Danlos Syndrome gives me hope that one day I will not need to explain so much about my condition.  I try to avoid dwelling on the challenges of Ehlers Danlos Syndrome.  I use so much energy to function, to maintain a sense of normalcy and balance in my life, that these explanations can feel like I’m repeating myself, or talking too much about this shadow I refuse to have as part of my day.  If you or a loved one do not suffer from EDS, chances are you do not know what we live with.  Even within our community there is a wide spectrum of severity.   Our daily struggle can be invisible, often requiring regular explanation at the individual level to function in daily society, and on a larger scale to raise awareness outside of our community. This is a genetic disorder and each of us has a responsibility to share our experience, to provide encouragement and a path forward for the next generation.  Even though my thoughts become tangled, due to the disorder and at its complexity, I need to untangle them. I need to keep finding my voice and raising it. "When 'I' is replaced by 'we', even 'illness' becomes 'wellness'." - Sushan Sharma

In late September Rob & I went to Maryland for a week. This wasn’t just a harbor vacation of boat tours and crab cakes, although we had plenty of both. This was the end of an eight-month wait for an appointment with a top neurosurgeon specializing in Ehlers Danlos Syndrome. 

Prior to this appointment, I was ordered to undergo dynamic MRI and CT scans which I completed with my primary doctor in June.  Instead of lying down, a dynamic MRI is done upright and shows the effect of gravity on your body as you would be sitting, standing and walking each day.   A pumpkin on a stick may appear stable lying down, but upright it tells another story.  He also requested scans of my head and neck bent in forward in flexion (as I would be when reading or on my phone, working at my desk etc.) and backward in extension, as far as it would go. I repeated this forward flexion in a dynamic CT scan, and another two with my head turned 90 degrees to the left and right.

It was clear from the images that there was a problem.  I do not know which is worse, waiting for an explanation of what is wrong, waiting for the solution, or wondering how much resolution it will bring.  I am very good at convincing myself that things are not that bad,  that I am fine.  I am not fine, and have not been fine for a long time.  I became a pro at faking it outside of my immediate family.  Work is a wonderful distraction that makes me feel useful and valued. 

The neurosurgeon I went to see has extensive experience with the EDS population.  He apologized for the prolonged waiting period. and within a very short amount of time had caught a few things others had missed.  He read my upright MRI and based on what he saw, he told me what my symptoms were.  He explained that the high degree of angulation in my neck is straining nerves along my cervical spine, and that fusing these vertebrae could relieve 80-100% of the symptoms I have been struggling with.   He strongly feels we have a path forward.  He has treated over 1,000 individuals with Ehlers Danlos Syndrome. 

When we put our heads forward normally there should only be 11 degrees of flexion between each vertebra with anything over 11.5 degrees considered pathological .  Due to the weakness in our connective tissue there is extra stretch and flexibility and  in my case, I have 15 degrees at more than one level.  The extra stretch causes C4 and C5 to sublux (to partially dislocate).   The extra degrees of angulation adds additional strain on the spinal cord causing cervical myelopathy which causes stretch damage to the nerves communicating the messages from the brain to the spine in turn to the body. 

White and Panjab criteria 

"The eyes cannot see what the mind does not know."  Many doctors are unaware of Ehlers Danlos Syndrome and the complications that come with it. The standard test for head and neck issues would be a supine MRI, which in my case appeared relatively normal.   When someone has faulty connective tissue a dynamic MRI yields very different results.  The muscles, ligaments, bones and tendons which hold up the head are not as strong and move differently against gravity.  This is why it took so long to find an answer and why learning I had Ehlers Danlos Syndrome, a connective tissue disorder was key to getting myself on the accurate path for answers.  The following PubMed paper explains:  http://www.ncbi.nlm.nih.gov/pubmed/18074684

Part of what helps me to cope with what I am dealing with is to raise awareness with my own doctors.   I booked a follow up appointment with each doctor who stayed part of my team, taking my new results, and copies of the MRI & CT to share what I learned and show the difference that the dynamic scans made.  Going back  gives me hope we can help the next individual who doesn’t fit in the standard box but that they still believe has something going on.

These are the compassionate doctors I have had.  The ones who were brave enough to say "I do not know, but I will help you find out" or "we will work together".  In many ways I feel like this is their solution too.  If they had reservation, I would have reservation.   We have looked at this from so many different angles aggressively over the past four years.

 While I am terrified, I am moving forward anyway.  If I left things as they are I risk injury to my spine or irreversible damage to spinal nerves.  As it stands today, there is no cure for Ehlers Danlos Syndrome, for the weakness of my connective tissues that led to the degeneration in my cervical spine, and causes the hypermobility I experience throughout my body.  I can take action to stabilize the worst area of my spine with this fusion, and with physical therapy,  hope to strengthen the muscles in my neck to prevent further degeneration at additional levels.  The Neurosurgeon will  fuse C4-C5-C6 with cadaver bone, titanium plate & screws.  If you have EDS, it is important that you use someone familiar with the disorder and its complications to do this procedure.   I am continually reminding myself that I am working right up to surgery which puts me in a very small group.  I have to trust that my quality of life is going to improve.  I have good odds.   I have the best Neurosurgeon. 

I look forward to the day when there are more medical professionals like the ones on my team, who did not stop when faced with a puzzle not easily answered.  Who say "you may never know for certain" yet work like hell to find you an answer that can improve your quality of life.  Who don’t close their eyes to rare disorder and the possibility of new variants, or dismiss the individuals who are suffering daily while striving to make the most out of what they have.

The Cosmo article about one of the young ladies from our support makes me wonder if this could be a bit closer than I thought. It means people are listening and compassionate.  

I cannot keep going through the motions ...

 I am sick and I will not get better.  I have chronic illnesses and no one has any clear simple answers for me. I am a Zebra.  I'm Atypical.   

This really may be about as good as it gets and I am working to be happy and thankful for each day. What I mean is my health will not get any better than it currently is, but I do have Other things to be thankful for.  I have an amazing Daughter, Emerald who has taken her time to help me which is a big deal in your early twenties.  We are blessed she chosen to come spend time with us after finishing school.  I have a wonderful Partner, Rob who has come to countless doctor appointments with me, some we have waited months for and have turned out to be a total waste of our time. He has watched me change, learned I will not get better and yet stayed by my side.  I would be lost without him.  The old me was so much more fun, yet here he is.  I also have Bruiser the cat who courted me for years before he could become part of our family instead of the neighbors.  For all these reasons and more I am blessed and while I know it....Honestly, sometimes I have a tantrum.   That just does no good, so I need to figure out the Chronically Fabulous Thing.  *grin*  Others have done it and I will too.   I am used to being the strong person, solving problems and leading for someone else. This whole no solution equation and being focused on myself is taxing me....literally! Fatigue City!  It makes me tired just considering explaining this, but I am going to try.  

How did I get here & Where the Hell am I?  I sure wish a doctor could tell me in a short answer.

I did not speak in the beginning, because I thought I was sick with something that we would fix so, no need for discussion.  Later, I did not speak as I thought I would find a shorter answer for what was going on, we started with chronic migraines and quickly moved to most of the doctors thinking it was MS.  I still face doctors who think I have MS from time to time.  I started telling a few close friends and family what was going on when I started immune globulin treatments, but still hardly disclosed what my life was like on a regular basis outside of my home.  I know we have ruled out MS now.  I have something similar to MS, but that is why it is so confusing to most in that… it is similar, but different. The more time that passes the more complex the situation has gotten and it was just overwhelming to try to tell this story.  The more I learn the more the story has to back up to have some previous diagnoses corrected so it is a tangled ball of confusion at times. 

In late July 2013 I received a diagnosis of Ehlers Danlos Syndrome in addition to the similar to MS disorder and I thought maybe things would start to come together in a clear path. The path is not clear in fact there is no path.  I do not know that there is even a trail of bread crumbs.  I have met some other Zebras and similar, but different people also battling. We are lost together. Can you picture us?  Similar, but different & lost together.  My Dear Friend Cecelia could capture this with her art.  Do you still wonder why I sometimes have a tantrum? I have learned more about the human body than I ever thought I would want to know and I am still reading and learning daily.  I very much wish I had chosen to study biology so that I was better prepared to live successfully on this road I need to walk.  You have to advocate for yourself when you or a loved one is ill with something atypical.

It is suspected that I have an autoimmune disorder causing my autonomic nervous system to malfunction, but it has not specifically been labelled at this time.  This is what I mean when I say similar to MS, but different.  I responded to the treatment for over two years and this was our confirmation of an autoimmune mediated inflammation. It may have contributed to the peripheral neuropathy and thus, muscle deterioration which really brought to light the fact that I have Ehlers Danlos Syndrome. The weaker I have gotten the more joint issues I have had and it is a slippery slope that immune globulin treatments were keeping me from charging down full force.  

A challenge has been dealing with the cycle of adjustment … I can walk well one day and hardly hold myself upright and lift a glass to my mouth another. I can cook, shop and garden in small amounts one day, but then not open a water bottle or close the gas cap on my car without warning. I can sprain the palm of my hand turning the steering wheel, picking up my mobile phone or simply being Italian talking with my hands. I cannot regulate my body temperature in heat or cold most of the time now. It is the without warning nature of this disorder, that can make it next to impossible to cope and so challenging to speak.  Literally there are times I cannot speak due to either muscle fatigue or lack of air, who knows, but sometimes it is just emotionally too much.  Where do you begin to tell a friend that your life has just stopped in its tracks and you are weaker than your 92 year old Grandmother at 42?    I tell myself I have to accept the life I have now in order to move forward, but it is next to impossible to wrap my head around what this life is, what I should expect and what I am to prepare for.  No one can tell me what I should expect given that we are not 100% certain what is going on - again the nature of rare disorders.  I am in a holding pattern and continually declining as the temperature increases and time passes.  Being unlabeled, undiagnosed, not clearly diagnosed, lost, rare, atypical, outside, and different is isolating.   It makes it challenging to speak.  It is almost as if my battle is somehow less valid.

I have found it hard to get past grieving the life that I had when I still experience glimpses of it and think maybe, just maybe I can get strong enough once again. I still remember that I used to take on 92 flights of stairs once a week along with my regular workout and now I cannot even stand in a pair of high-heels due to muscle loss. I believe the cyclical nature if these disorders make the reality of the situation harder to face. It is the how “did I get here” part of this story that can be so very hard some days.  I struggle to tell anyone else, because I struggle to see it myself.  I struggle to accept it as my reality.  

Sometimes I refuse to give in to think I would rather die trying to LIVE than live just trying to survive.  Then, I always pay dearly for overdoing it. But one must have things to be Passionate about and Live.

The fight in me does not go away, but the energy will not come back to fully match it. There are no known cures for what I battle only supportive treatments at best. My insurance company has taken away the best and most effective treatment for one of them as "not medically necessary", but that is another story in and of itself.   My doctor is battling them and hopefully part of my deterioration is the lack of this treatment and some of it will reverse if she can prove helping me is Medically Necessary.  

In addition, the lack of medical understanding, research and therefore knowledge due to the rare nature of these disorders adds to the equation. As you attempt to seek solutions you find a wall of ignorance often followed closely by arrogance as though this ignorance is your fault. You as the patient must be wrong in your symptoms or diagnosis, rather than they the doctor or medical professional lacking in their training or knowledge in this area. I have already endured many years with the wrong diagnosis and come this far. I still have great respect for the amount of time, sacrifice and dedication required to earn a medical degree, but I have only met a few medical professionals with the courage to tell me they do not know. They do not know what is going on, but they do know something is going on! That what how the best relationships with good Doctors begin. I have been blessed to find some good doctors, but I had to be patient and determined to find them.  I also had to have the wisdom and courage to fire the ones who did not serve my needs and move on to another one. 

While I work to rally a positive attitude the heartbreak and grief is always close behind it. I strive to look most on what I can do and what I have, rather than focus on what I have lost, this is not always easy. Today is one of those days that it takes all of me to just sit up and move my arms and yet I slept over 10 hours.  I have been stuck in a phase like this that has not ended day after day for a week.  I work and I come home and rest so I can work again feeling like I should not even be out of bed my body is so broken.  I have been getting progressively worse since my treatments were halted. If my treatments are not resumed or some other solution is not found I am for the first time anxious about the future.

How do you continue to fight when it is your own red blood, your own genetic deficiency, your own body that you battle every single day?   

May is Ehlers Danlos Syndrome Awareness Month.   I have Ehlers Danlos Syndrome Hypermobility Type.  EDS is an inherited disorder that affects the collagen and thus the connective tissue in my body. I hope to continue to share with you through the month some of what that means as there may be someone struggling undiagnosed in your world.  

We should always feel like we can continue to seek answers. When a door closes in our face we need to create another opening.  I am trying to do just that and later this year with visit more specialized doctors in Maryland to start seeking additional options and solutions.  While I am tired I do not know how to actually give up. 

Jolie Élise