What is it like to be rare: Rare Disease Day 2015

Rare disease day was established in Europe in 2008, and first celebrated in the US the following year. This day is sponsored by EURORDIS (the European rare disease organization) and by NORD (National Organization of Rare Diseases, USA). The goal of both organizations is to "support policies and practices that promote innovative research and the development of new treatments, provide access to the highest standard of diagnosis and care, encourage more patient-centered health care systems, offer a higher quality of information, and help break the isolation of the people living with rare diseases." ***

Some people may think it is odd to have a whole day for rare diseases, believing that fighting a rare disease is not that much different than fighting a more common disease. While suffering is still suffering, regardless of how common a disease is, after over twenty years of a rare illness I can tell you that there are definitely special challenges that come with living with a rare disease. 

The first challenge is just getting a diagnosis. When you have a rare disease, most doctors you run into have little to no experience with your particular illness. If they don't know anything about your disease, they don't recognize the symptoms or even know how to look for it and therefore just getting a diagnosis is tough. 

I went at least two years without a diagnosis. My first doctor ignored my complaints, while my next doctor felt there was something wrong but didn't know what. I went to her for quite awhile until finally my mom asked her to watch me rise from the floor. Because my muscles were so weak, I had to compensate and get up in a really strange way. It was much more difficult than what a nine year old should do. After I did that, it suddenly occurred to her what I might have, as she had encountered a patient with a similar disease before. She then knew what type of doctor to refer me to for a diagnosis, but had she not been aware of my illness at all, I might have spent many more years searching for help. Had my illness been more common, I might have gotten an earlier diagnosis, and therefore earlier treatment, and earlier treatment is believed to have higher remission rates. We will never know how much the lack of diagnosis in the early days played into the severity of my illness. 

The complications don't end with the diagnosis. There are still many problems you encounter in the medical field when having a rare disease. It's hard to find a doctor who is well informed enough to take your case. Some doctors won't even see you, and others don't have the expertise but attempt to treat you anyway, which in the long run can make things much worse! If you do find a doctor with a lot of experience treating your disease, they may only have a few treatment options available to give you.  Less people affected means less money for research. Less money for research means less research studies. Even when you do find the funds, there are less people to research on, which means less data to base treatment plans on. All medicine is more or less experimental, but having a rare disease greatly enhances the guessing game. On top of that, the same disease may vary greatly in two differently individuals, making it even harder to decipher a successful therapy. 

As if the challenges we face in getting the correct treatment aren't enough, it doesn't end there. One of the hardest things about having a rare disease is the lack of awareness in the day to day life. While I know many people who fight stigmas and ignorance about even common diseases, at least other people have heard of those illnesses! There are times I've told people I have "Dermatomyositis" and felt as if they believed I just made it up because they've never heard of it. The name of my illness is actually very explanatory of my illness--"derma" means skin, "myo" means muscle, and "itis" means sickness. It makes complete sense why a disease that affects mostly skin and muscle tissue would be named dermatomyositis but without breaking it down, most people don't really know what it means, and therefore wrongly drawn the conclusion that I somehow made it up! (FYI, many important things in your body, like major organs, consist of muscle and skin cells! Which means much of my body can be affected by this illness!)

Another thing I've noticed is that people seem to believe if it was really bad, they'd hear about it more. I can't even count the times I've tried to tell people more about it just to get the feeling that they believe I am exaggerating. Even the "easiest" case of dermatomyositis can be tough; but having a chronic and severe form is downright scary sometimes. At my worst, things literally got harder and harder to do until I eventually lost a great majority of my abilities. I'm not talking about great athletic feats here; I'm talking about simple things like getting in and out of the bed or rising from a chair. By the grace of God I am getting stronger, but there are still daily tasks I'm struggling to relearn that most people are able to do without even trying. Just because dermatomyositis isn't well known, doesn't mean it's easy; it just means it is rare! 

So why is it important to support rare diseases? It is important because people fighting rare diseases are important and valuable to God.  Our suffering is still suffering, regardless of how many other people in this world happen to share a diagnosis, and we need and appreciate those who choose to share the burden with us. We are called to love and support one another, but many people don't  take the time to slow down and care for the sick. One of the hardest things about any chronic illness is the isolation one feels; having a rare chronic illness makes it all the more isolating. So next time you have an opportunity to meet someone "rare," take the time to learn about the disease they are fighting. It may not seem like a lot, but it means more than you know!

***http://rarediseaseday.us/about/history/

Happy 35 years to Joni & Friends!

I cannot remember a time that I did not look up to and admire Joni Eareckson Tada.  Growing up with a disabling illness, I found it hard to find role models in the public eye who really encouraged me. When healthy normal people talked about pain and suffering, the words just seemed to be empty; but when Joni spoke of pain and suffering, the words mattered. Our situations may be drastically different in many ways, but I know she is accustomed to pain and suffering, and that has made a huge difference in my life.

As I grew older, I became more and more aware of Joni's spiritual depth. Her daily dependence on the Lord is evident in everything she does and I know firsthand that God uses her words to encourage and inspire. I cannot even count how many times I've needed to hear just what was written in the daily Joni & Friends devotion, or how many times her books have spoken truth into my life at a time when it was desperately needed.  

I've always admired and believed in Joni and her ministry, but a few years ago God used circumstances in my life to make the magnitude of her Wheels to the World ministry more real to me. When my disease took a turn for the worse, I had less and less abilities and started to have to rely on accessibility devices more and more. I fought it at first, but eventually I realized they had to be used to make life easier for me. I have to admit, at first I didn't handle it too well; I mean, what 26 year old really wants to have a toilet riser and still have to have help up when they are finished? It was pretty discouraging to say the least. Every time I saw my toilet riser, ramp, shower handrails, wheelchair, etc, I felt a little pang of bitterness. They were ever present reminders that I was really sick and really weak. I felt like they were screaming at me, telling me all the things I couldn't do.

Then one day I was watching a Joni and Friends video on the Wheels of the World ministry and it hit me-- what if all those accessibility devices I needed weren't there? What if my family couldn't afford them or if I lived in a country where they were not readily available? How much more difficult would my life be? It was a humbling experience to say the least. I suddenly looked at all of those things a lot differently. I no longer took them for granted and started to try to think of them as a really strange blessing. Don't get me wrong, if the day comes when I do not need them, I will be overjoyed; but in the meantime I am thankful they help me and thankful to have them as I slowly gain my strength back. That day God also placed on my heart to donate to the Wheels of the World ministry on a monthly basis.  It's not a lot, but it's enough that one person will receive a wheelchair each year. It amazes me how God can take a small gift on my part and literally change someone's life. Giving someone with a disability a wheelchair is so much more than just giving them a chair; it's giving them freedom to go out of their house again. This may mean the opportunity to go to church or school or to just see the outside world. It means they have opportunities that they never had before; and with Joni and friends, they are also given a Bible and hear the gospel, which means they then have the best opportunity of all - to accept Jesus Christ as their Savior and secure an eternal destination.

I'm so thankful for Joni and friends and the many aspects of the ministry.  It changes lives!

Read more about this ministry at:

www.joniandfriends.org

#JAF35Years

20 years

First of all, I am sorry it has been so long since I’ve blogged.  This entry is actually a month later than I wanted it to be, but December was a crazy month.  I didn’t felt too well the majority of the month and the end of the month was busy with Christmas festivities.  Now that things have slowed down, here is a post I’ve been writing in my head for a while but have just found time to actually write.   

Second of all, sorry this is so very long.  I guess I am making up for lost time!

The first week of December marked 20 years since the diagnosis of my illness, Juvenile Dermatomyositis.   So much of that time in my life is fuzzy.   Other things I remember vividly. I remembered that I hadn’t felt well for a long time, which was very confusing for a child.  At times I felt no different than my peers, and other times it was obvious to me that I was different than them.  I remember not being under enough anesthesia for my biopsy and I still have memories of it because of that.  I remember being scared and confused as we waited for the results, knowing that they suspected two possibilities.  The first would be a genetic disorder that would mean I would most likely not live past my teens.  The second was Juvenile Dermatomyositis.  Of the two, JDM (Juvenile Dermatomyositis) was the better option, even though it can still be fatal and is much harder than I could have ever imagined at that point, there were at least treatment options.  However, when you have a muscle disease, there really isn’t a “good” diagnosis.  I remember falling on my bed crying out to God and completely dedicating my life to Him in that time of waiting for results.  I had made a decision to accept Christ a couple years previously, and being faced with life and death made me realize the importance of growing in that decision.  It was a turning point in my life spiritually, and I grew so much in that time. 

I also remember thinking now that we had an answer, things would be better.  I learned the hard way that in many ways my story had only begun.  Most people still incorrectly believe that you get a diagnosis, get medication, and then shortly after that you are better.  Even now, I’m often met with skepticism from others of why the doctors can’t “fix me.”  I have no idea why people think doctors have all the answers; after all, if they did, we’d have no use for funeral homes.  Truthfully, doctors are human.  There are some good ones; there are some bad ones; there are some who truly care about their patients; and others who have such huge egos that they blame the patient if they can’t find the answer. The best doctors realize that the human body is complex and that they don’t have all the answers but they do their best to use the knowledge God gave them to give the patient the best quality of life they can have.  I have had doctors who have been great; I have had doctors who were uncaring and negligent and I still pay for their mistakes.  I would learn through the years that I would have to become my own advocate, and that I could not just blindly trust doctors thinking they had my best interest at heart.  I now think through and pray about every decision I make regarding my medications.  I have learned that even the best doctors don’t have all the answers, and that I am much better off talking to the One who does have all the answers.

I could definitely expand on the subject of doctors--I could write a book about doctors and what makes a good one and what makes a bad one--but this was supposed to be about my diagnosis—so back to that we go:

As I said, many people assume that the diagnosis will be the end of the story.  You get an answer, you get a solution to that answer, and game over.  That’s not how it works, at least not always.  I wish it was!   While it is nice to have a “name” for the problem, that is only the beginning in so many ways. 

With juvenile dermatomyositis, most doctors will say there are usually three “routes” the illness will take as far as prognosis goes. 

The first, and best route is that the patient responds well to medication.  This is still not an easy process, as the drugs used for this illness are toxic and powerful and almost as hard as the illness.  It is a rough few years, but eventually the patient reaches remission and is able to live a normal to almost normal life. 

The second, but worst route is that the patient doesn’t respond to treatment.  The illness moves too fast for the treatments to take hold and eventually the complications prove fatal. 

The last route is the route I am in; it is a route that varies from both of the extremes.    There are varying degrees to how much the illness affects the patient’s quality of life, and each patient may deal with various complications that can cause disability and more limitations.  Some people in this group get close to remission, while others barely escape the fatalities of this illness to fight another day.  I know people who are in this category who still struggle more than those in remission, but don’t struggle nearly as much as I have.  I also know of people who have symptoms much more severe than mine.  It is definitely a very varied group!  Doctors don’t really know why some people seem more resistant to the treatments or have more severe symptoms than others; but I can tell you it has nothing to do with their spirits.  Some of the people I know who are fighting the hardest with the most positivity have the most severe cases and the most setbacks.  One of the most incorrect things I have ever heard is that people would be all better if they were just more “positive”…a positive attitude is vital in surviving any chronic illness, but it will not cure or erase the illness on it’s own.

For me there have been many ups and downs since that day of diagnosis.  I have had years when I have been better; I have had years when I have been worse.  Every year has been a struggle in some way.  Some years were just a rough emotionally as they were physically.  All I know is the JDM has been present in my life for as long as I can remember.  It affects me more than anyone could ever imagine. .  I have done my best to still maintain a life of joy in the midst of suffering, but the presence of my smile does not mean absence of JDM.  I could write endlessly about everything that has happened in the span of my life.  It would take me hours to write and hours for you to read.  There have been so many things I could expand on, so many experiences I could write about, and maybe one of these days I will—but today, I just want to write about how I feel after 20 years of fighting.

I am tired.

Especially since while my story didn’t end at diagnosis, it also didn’t begin there.  We know I had symptoms for at least two years before my diagnosis; but reflecting on my childhood, I was a fragile kid from birth.  I could have begun my journey with dermatomyositis long before we even knew it.  Yes, twenty plus years of fighting a beast like DM is absolutely exhausting.

I am tired of years of doctor’s visits, with very little progress.  I am tired of medications that make feel worse instead of better.  I am tired of wanting to be better so badly, that I often push myself to hard and end up causing a flare.  I am tired of rash flares and agonizing pain.  I am tired of a body that reminds me of all the things I can't do.  I am tired of being at the end of treatment options and wondering if there really is any help or hope for my condition. 

But I believe that the Greatest Physician knows my every cell and fiber, and can choose to make me better even with treatments that are unconventional or unproven. That He can choose to heal me even though my state seems helpless.  That He will lead me to the right medications in the right timing.  The strange thing about this last year is the medications that have helped me with my dermatomyositis symptoms the most are ones that are not even typically used in the treatment of dermatomyositis.  I started taking them for other reasons, just to find an ease in my DM symptoms.  That is not coincidence; that is God and the answer to prayer.   

In the meantime I will pray that God opens the right doors and gives me guidance on steps I need to take in my medical treatment.  That He will lead me to the right doctors, medications, and therapies that will best benefit me.  I will praise Him and thank Him for answers, medications that help, and doctors who care.  I will accept and trust that healing much come on His timetable.  I will constantly submit my will to His, and pray that He uses me in the way that glorifies Him the most, even if that means suffering.  I will love Him and serve Him even if healing isn’t a part of my story. I will praise Him through pain and uncertainty.

I am tired of how being sick affects relationships.  I am tired of feeling so isolated.  I am tired of being a chronically sick person in a world where most people my age are healthy and don’t understand.  I am tired of being gossiped about because I don’t “look sick.”  I am tired of having a hard time trusting people because I have been so hurt in the past.   I am tired of having to spend so much time at home alone, and having very few friends who understand the importance of visiting me, or who are just so busy with their own lives they are unable to visit me.  I am tired of being a person who loves so deeply but feels so disconnected from the majority of the world.

But I believe that I have never lost a true friend.  This illness has its setbacks, but eventually it reveals who is truly there for me and who is just pretending.  The people God removed from my life didn’t need to be there in the first place.  I may not have a lot of friends, but the ones I have are worth more than gold.  I believe the ones I am close to now, are ones God has clearly placed in my life.  I believe the friendships I have developed through online support groups are also very important, even if these people live so far away I may never see them in person, that doesn’t mean that we don’t impact each others’ lives.  I believe that I have friends who I may not hear from much who still pray and think of me.  I believe if He sees fit, He will bring the right friends to me in the right timing, and I know He can make this happen when I least expect it, because He’s done it before.

In the meantime, I will cherish the friends I do have with all my heart.  I will be a loyal and compassionate friend to each and every friend I have.  I will thank God for them and invest in them as I feel He leads me.  I will thank God for things like online support groups while I can’t get out much.  I will pray about new opportunities and trust God as I allow Him to open new doors. 

I am tired of this illness stealing things from me.  I am tired of wondering if dreams and desires of my heart are just impossible.  I have wanted to be a wife and a mother for as long as I can remember, and sometimes it breaks my heart to wonder if that is even possible.

But I believe that if God sees fit, He will make all things possible in His time.  I believe that if marriage is part of my story, He will lead my future husband and I into that relationship in His timing.  I will trust that God can make any obstacle obsolete if He so chooses.   I believe with my whole heart, that if that day comes, our marriage will glorify God more because of my suffering, not in spite of it.  As for being a mother, that seems even less possible considering my health; but I know God can change things and I also realize that you don’t have to give birth to be a mother. 

In the meantime, I will pray and continually give these desires over to God.  I will submit all these things to Him in reverence.  I will ask Him to change these desires if they are not part of His will for me, while still believing that He can make it possible if it His will for me.  I will pray that if marriage is part of my story, that He will already begin work in my heart to prepare for that, and that He will do the same in the heart of my future husband. This may sound strange to some, but I will also thank Him for my cats; yes, I may not be a mother to a human child, but I am thankful to be a “cat mom,” and they honestly do help fill a void.  They are God’s creatures to and I do not take the fact that God has given them to me lightly.  May I honor Him in my care of Ariella and Toby, as He reminds me of His love for me through their sweet personalities and beautiful faces.  

I am tired of not being able play with my niece the way I would like to, the way I would have been able to a five or six years ago when I was stronger.  I wish I could get down on the floor and play with her, chase her around, really interact with her the way I would if I was stronger. 

But I believe my life can teach her to love and accept people who are sick or disabled.  There are so many people in this world who are quick to judge those who are sick or disabled, and I surely do not want London to become that.  I hope and pray that my life teaches her to see and love people differently. 

In the meantime I will do what I can for her.  I will love her and pray for her.  On a less serious note, I will buy her really cool presents.   I may not be the strong aunt, but I can certainly be a cool aunt with good taste that buys really cool toys and cute clothes.  :)

I am tired of being able to do so little for myself and by myself.  In 2011, I lost so many abilities and I am still fighting to get them back.  The last few years have worn on my soul the most because so many things have become extremely difficult, things most people do easily and think nothing about.  I am talking about needing help doing simple, simple daily things, like dressing myself, getting off the couch, or getting out of the shower (just to name a few.)  I have gotten better than I was in 2011, but the progress has been painfully slow.  I literally feel like I am fighting just to survive somedays.  I am tired of having to have accessibility equipment everywhere when I am only 29.  Though the invitations and opportunities are few at the moment, I am tired of not being able to do simple things like, just go out to eat with friends, because I may need assistance they can’t give me.

But I believe that God is honored in the fact that so much has been taken from me yet I still praise Him.  Though I have my days when I feel like given up, I haven’t yet.  I believe that is a testament to my faith.  I believe God is glorified when my mom so selflessly serves Him by taking care of me.  I believe God is glorified when people who don’t even know me, pray for me.  I may not be where I want to be, but I am so much better than two years ago.  I believe, with patience, some of the opportunities I long for will open.

In the meantime I will thank God for the people who help me, especially my mom.  I will thank Him for accessibility equipment because I know there are disabled people all over the world who could desperately use it but have no way to access it.  It may not be fun to use accessibility equipment so young, but it is a blessing to have when you need it.   I will thank God for any and all progress, no matter how small, and keep fighting to get stronger, no matter how hard that is feels sometimes. 

I am tired of trying so hard to do everything, but still having people not understand and accuse me of “not trying hard enough.”  I get this from healthy people, but I have also at times sensed or been flat out judged by other people who are chronically ill but are still able to do more than I can.  This has even happened in my myositis groups from time to time, as some people there are much milder cases or cases that respond better to treatment.  Being judged by them is often worse than being judged by a healthy person!  I am tired of wondering why I don’t get better faster despite my best efforts.  I am tired of the times I feel so much guilt I start to believe those lies, pushing myself, and causing flares and injuries.

But I believe, no I KNOW, I am trying with all my might.  I may not have much to show for it, but I am still here, I am still fighting, and I am stronger than I was two years ago.  I believe I would not have made the progress I have made if I hadn’t been trying.  I also know that it is much harder to keep going when progress is coming slow, than it is when it comes rapidly, and the fact that I keep going is a testament to my strength, not my weakness.

In the meantime I will try as hard as I can, but be more concerned with my spiritual strength than my physical.   I will do my best to ignore those negative comments and feelings.  I will use the strength God gives me to get through each day, and let His grace be sufficient for the rest. 

I am tired of how this illness makes me feel, about my self esteem and my self worth. As hard as I have tried not to over the years, there are so many times I have felt ashamed for being sick.  I don’t know why; I did nothing to cause this and I do the best with everything I have been given to get better.  It is just sometimes so hard to separate the illness from me as a person.  I realistically have to factor it into so many decisions that sometimes it is painfully hard to realize that the illness is not who I am.  When you can do so little, it is hard at times to feel you have value or purpose.  I miss the times when I was more involved in church and feeling like I made a bigger impact than I feel now. 

But I believe God’s ways are not our ways.  He may be using me in ways right now I can’t see or even comprehend.  Yes, I am a person with a chronic illness; but that doesn’t make me a “sick person.”  Instead it has made me a fighter.  It has taught me lessons about compassion, love, strength, humility, grace, forgiveness, and patience that I would never learn in any other way.  Dermatomyositis has been a curse in so many ways yet, it has been a blessing in others.  How can something so miserable be made into things so good, like the qualities listed above?  There is only one way I can explain it-only through the miraculous grace of Jesus.  God is in the business of making beauty out of the ashes. 

In the meantime I know I will still have days where I doubt my value.  This is one reason I put this all in writing, so I can remind myself on those days of doubt.   I will lean on those who God has placed in my life to remind me of value on those days of doubt, but more so I will lean on God to remind me that yes, this illness has been a part of my testimony; yes it has greatly changed the course of my life and I don’t understand that sometimes.  However, I also know it has helped me become who I am today.  Yes, I am a person who fights a chronic illness everyday; but I am also a reverent daughter, kind granddaughter, loyal friend, caring cat mom, supportive sister, cool aunt and so much more.   In 2014, I will try to define myself by these things more than I try to define myself from the illness.  Most of all, I will try to define myself first as a daughter of the King of Kings.  Because it is in Him my weakness is made perfect, and that is why I am worthy and have value.  I can still serve Him and love Him even in my weakest moments.  I may not be able to do a lot, but I can still praise Him through pain, love and cherish the people He has blessed me with, I can care for my cats, I can listen when a friend needs me, I can encourage…. I will be faithful in the small things, because one day when all is said and done, I may just find that the small things were not so small after all. 

I love Kindle books....

I have found in the recent months that I love kindle books.  I still love paperbacks as well, but it's convenient and fun to be able to download a book straight to my kindle or phone, especially when I'm not able to get out much and shopping days are few.  Plus, sometimes the kindle editions are so cheap it is hard not to pass them up!

Right now some of my favorite books are on sale.  Several years ago, I went through a really difficult time and these books helped me get through that.  I recommend anything by Henry Cloud or John Townsend.  I downloaded some other titles that look good to me as well.  They are on sale until the end of the month, I think.  I thought I would pass along the link incase anyone else is interested:

http://www.amazon.com/gp/feature.html/ref=br_lf_m_1000706171_grlink_8?ie=UTF8&docId=1000706171&plgroup=8

~Steph

Brief Update: June 29

Not sure who originally said this quote, but found it on facebook and thought it was worth repeating:

"The deepest level of worship

 is praising God in spite of pain,

thanking God during a trial,

trusting Him when tempted,

surrendering while suffering,

and loving Him when He seems distant."

I will try to update more soon.  I've been meaning to for some time now, but it has been a couple of rough weeks.  My body continues to remind me that healing will not always be an uphill process, but that it will take time and there will unfortunately be setbacks along the way.  I try to be patient and take it a day at a time but at times it is frustrating.  I've also been struggling a lot with loneliness and isolation.  Chronic illness is a lonely world at times.  At least I have this little buddy to keep me company most days:

Please keep me in your prayers.  

~Stephanie~