Rare Disease Recognition Day

Today is Rare Disease Recognition Day. I am dedicating this blog post to all those who have been diagnosed with a rare disease, and their caregivers who struggle every day. As a parent of a child who has a rare disease I know what it is like. Not only to deal with illness every day, but the fact that the general public probably has no idea what it is like to live with illness and how it can affect the whole family.

Many of you know that I am an active advocate for the National Marfan Foundation and work daily to increase awareness, provide support to affected families, and work on NMF Fundraising projects. Today, instead of going down that particular path, I am going to suggest that if you would like more information about Marfan syndrome please visit www.marfan.org because today I have decided to share a story. It is a very personal story. It deeply affected me yet I somehow feel that if I share this story, it may allow those who are not touched by Marfan syndrome or some other rare disease* to understand the affect it can have on the tender hears and psyche of those who suffer….especially if they are children

My son Cory was diagnosed with Marfan syndrome in 2006 at the age of 16. In July of 2007, while attending a summer program in Music Composition at the Interlochen School of the Arts, he had an aortic dissection http://bit.ly/a5VBCo

Although this is not uncommon for Marfan syndrome, since he had been diagnosed and was under the care of a cardiologist experienced in the treatment and heart complications of Marfan syndrome, this was indeed a surprise and emergent situation. After surviving life saving surgery in Traverse City, Michigan, we brought him home to begin his recovery. Nine months later, through hard work, determination and true grit he graduated high school on time, with honors, garnering several State Composition awards along the way, as well as the National High School Choral Award. He was accepted into the University of Michigan with a major in Music Composition where he thrived for his first semester. However, as rare progressive diseases tend to change, medical complications necessitated he leave school partially through the spring semester of his freshman year. The word disappointment cannot begin to describe the torment he has felt over the last year. Each time a new semester rolls around we accept where we are right now, hope it changes in the future, and that his condition improves and stabilizes enough to return to UMich.

However this is just background information for those of you who do not know our situation. The story comes now, as we are finishing up a week of trying times.

Cory’s condition has not improved. He has pain daily. The pain is systemic and there seems to be nothing that the MD’s can “throw at it” that seems to help much. He is 20 years old and struggles with the questions that would plague anyone with a rare disease who “should be” on the cusp of adulthood, living independently, and forging forward pursuing his life dreams. He is not. He is dependant on his family, physically, financially and emotionally and struggles with the questions:

Is this the best it will ever get for me?

Will I ever be able to go back to UMich and pursue my dreams?

Will I always have to live at home and depend on Mom and Dad for everything?

Will I ever have anything that comes close to resembling a "normal" life?

While struggling with these questions, dealing with extreme and chronic pain and dealing with side effects of necessary medications he is left in a fragile and vulnerable place.

Last week he asked me if we had “any more crosses around the house like the one that was on Grandma’s casket that you gave me?” Although he is not actively practicing, he was raised Catholic and recently has developed the desire to reconnect with his Catholic roots, after years of struggling with his faith. He possesses a foundation of faith and belief, and much like many others his age, is searching to find a credo that fits. Meanwhile, he has retained a deep connection to certain religious symbols, one of them being the cross (of which he has a small collection hanging on his wall), and others being the Star of David with the Hebrew word “Shalom” beneath, Native American religious symbols (of which he feels particularly fond), his grandmother’s personal holy water font, and a good-luck Buddha. I thought for a moment and told him that I had a few rosaries but no other crosses per se. I asked him why. He struggled with the answer, but somehow communicated that he just felt a need, basically intangible but mostly instinctive, that at this moment in time, he just needed something more to hold on to. Something in which he might find a modicum of comfort to help carry him through this very painful and trying period in his life. It happened that I had to go out that afternoon so I stopped by one of my favorite antique malls where I found an old, inexpensive “charm size” cross. It was well worn, but felt so comfortable in the palm of my hand that I did not hesitate to purchase it. I brought it home to him. After having spent a painful and restless night, he was still asleep and feeling drained. I took the cross into his room and he took it in his hand, performed the ritual sign of the cross and raised it to his lips and kissed it. He whispered “thank you Mommy” and clenching the cross in his hand, rolled over to try and get some more rest.

Later this week, after a particularly difficult day, marked by extreme pain, occasional heart palpitations and an isolated incident of shooting chest pain I went in his room to check on him. It was about 1:00am and he was trying to sleep despite a pain level that made it difficult to get comfortable. In the quiet of the night I could hear his prosthetic valve emitting its rhythmic click, click, click. Something I had become accustomed to after his heart surgery in 2007 and find oddly comforting. There were countless sleepless nights during his long recovery, while we were all reeling from the enormity of the emergency surgery and just how sick he was, that I would sneak into his room and just stand there, listening for that sound, the clicking confirmation that blood was indeed pulsing through his broken heart.

This particular evening, at 1:00 am, looking at him shifting uncomfortably in bed, not quite sleeping, yet not quite awake, I sat on the side of his bed. He reached for my hand and placed it over his heart. Ever since his surgery it seemed to bring him comfort if I would just reach under his shirt and place my hand against his skin, over the scar, on top of his heart and rest it there. It brought me comfort too. Most times I would rest my hand over his heart, feeling the click, click, click, my thumb resting on the wire band beneath his skin that still holds his rib cage together and pray. I prayed hard. I prayed for his heart, so close to my palm, to heal; be stronger, make him well, at least well enough that he would able to pursue his dreams. Part time would be OK, really! I prayed that he would somehow be well enough and stable enough to gradually regain his footing reclaim his life. Many times, as I sat and prayed I would notice his breathing becoming less labored, more even and feel him relax while I willed healing energy though my hand to his hurting heart. On this particular night I gently removed my hand from his grasp and reached up under his shirt preparing to say my silent prayer while he rested. I laid my hand over his heart and “started”. He whispered “please don’t laugh at me” as he lifted up his shirt and showed me what I had already guessed. After having such a rough day, he had taped his new cross to his chest over his heart. He said “I was scared and I thought it was a good idea, that it might keep me safer.”

It does not matter, the explanation. I did not laugh. I almost cried. Such a brave man grasping for comfort and hope in such a rudimentary way. Hoping against odds and evidence to the contrary that his heart would be taken care of--by silent faith and the comfort of a cross pressing against his chest or clenching the cross in his hand

This is a very personal story. It moved me deeply at the time and it continues to move me. It was so personal, revealing a depth of vulnerability that I was privileged to share with my son in that special moment. It is for that very same reasons that I struggled just as much with the decision to share this story with all of you.

What swayed me were these thoughts:

--Today is rare disease awareness day and Cory has Marfan syndrome, among other chronic illnesses that aren’t quite so rare (fibromyalgia, diverticulitis, others…).

--In sharing this story I hope that maybe I will touch someone who has never had to manage the care of anyone with a rare disease and by doing so allow them a glimpse of the humanity behind the tag. (Whatever disease it may be.)

--To let others who are caring for, or who are dealing with a rare disease themselves, knows that there are others out there. We struggle every day. Yes we are human, we get worn out, some days are better than others, but in the end we grasp whatever modicum or glimmer of hope there is, We grasp it, we hold it in our hands and we move forward.

Optimism, Schizophrenia or Survival Skill?
This post was written on September 29th.

Everyday I post on Facebook, TWITTER, NMFConnect and answer countless emails. Since a goodly percentage of my contacts are either aware of my (and/or my son's) chronic illness, have their own chronic illness, or are a family member of someone with a chronic illness I receive many questions along the line of "how are you doing today?" or "how are you really feeling?". So here is the deal---when I write a status post on any of the aforementioned sites, I am telling the truth, always. So where is the problem? Well, while posting this weekend I came to the realization that since I subscribe to the philosophy of "positive thoughts, speak and action" --what I fondly refer to as ALOTBSOL (credit Monty Python--Always Look on the Bright Side of Life) that the result has been a development of a duplicitous existence--at least on the web. "Public persona" vs "personal/private persona" as it were.

The complete irony of this will not be lost on certain members of my family and very close friends who know that I grew up in a family culture that due to alcohol, ignorance and bad choices, was completely ruled by this duplicitous lifestyle. Most who knew my father, would always say what a sweet, funny, good man he was. And he was....always...in public. His "private persona" however, was much different---What most people (including all but immediate family) did not see was the angry, mean, abusive man that he was in "private". The man that actually showed glee at behavior that humiliated and demeaned. The type of behavior that should have been disavowed and prohibited by any decent husband or father.

This dual manifestation has unfortunately been his legacy to one of my brothers who continues to perpetrate the same split personality which allows him to present a public persona of decency--a model citizen, teacher, father, and until recently, loving husband. While privately, he is abusive, controlling, demeaning, spiteful and wraps it all up in a huge ribbon of rage fueled by a skewed sense of entitlement. And yes, he too is an alcoholic, however, his abusive, controlling, meanness, irrational entitlement and bursts of unprovoked rage manifested themselves at a much earlier age----way before alcohol became his best and most loyal friend.

However, I digress. This was not meant to be a bearing of the soul of my dysfunctional childhood and family. However, there is a parallel at play here, but it is a much more kinder, gentler duplicitous existence of which I have chosen to live out. As a person with a condition that causes chronic pain and fatigue I have two distinct and very real existences at play ever day. For example:

Today on my Facebook status I wrote:

Cooking up a storm this weekend in prep for Brad's surgery. Stocking the freezer with meatloaf, chicken enchiladas, meatballs and sausage. Started Friday night, and of course, in the midst of all the cooking, the kitchen sink starts leaking. Good thing we have a neighbor who is also a plumber!

Well, this is all true. Every word, every meatball! LOL. Makes me sound like a normal (albeit Type A) wife and mother spending her weekend in preparation for her spouses' surgery. However, how I really feel this weekend is: absolutely worn out, exhausted-like I am clinging on by my fingernails. Every part of my body hurts, my feet, my legs and hips, my wrists (which makes all the cooking so pleasant!!), my back, and especially my neck. In between the chicken and meatloaf yesterday I had to lie down. I did take a two hour nap--it was the only time yesterday that I was pain free: while I was sleeping.

The reality of our situation is that Brad is our healthiest family member. And he will be needing the most care over the next several weeks.. I will gladly step up and care for him, as he does for me--always. We do not have family near us, nor do we have the kind of support network here that would step in and help the way family would. That is nothing new to us, we have been through so much these past few years and have managed pretty much on our own. We have received the occasional meal from those who live near us who we consider good friends, and we are so thankful and appreciative. However, the point being, we have to do this ourselves, we know that, and we do, with ALOTBSOL and adrenaline. I CHOOSE to post positive comments and updates. I do not want to ever become the person who lets the pain and fatigue over-take her spirit. Although there are times where I am just so spent and see no relief ahead---and that CAN be discouraging. If it wasn't, there would be something seriously wrong with me. These next few weeks will not be pretty. They will be challenging. They will test my physical ability to 'keep up" in many ways. I will dig deep and find whatever reserves are hiding in the deep recesses--somewhere.

So there you are---my upbringing in a duplicitous environment has trained me well. I can feel like I've been hit by a truck and still project a positive, supportive, hopefully humorous persona. And while I profess that this is a conscious "choice" on my part--I choose to be positive. Maybe, upon examination it is actually more than that.