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What It's Like to Be a Patient With a Rare Condition

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People often ask me questions like what it’s like living with my health issues, or ask me specifically about them, but most recently I’ve gotten asked what it’s like to be diagnosed with a rare syndrome.

Since I was about 15 years old I’ve lived with epilepsy, a fairly common condition. 11 years later I was diagnosed with nutcracker syndrome and pelvic congestion syndrome, and one year later I was diagnosed with pudendal neuralgia. However, I still don’t have a definitive diagnosis for my chronic pain.

What Is It Like Living With a Rare Syndrome?

Well, when my pain first started, I never thought in a million years it would lead to a diagnosis of a rare syndrome. I was fortunate to get diagnosed pretty quickly (in about a year), as opposed to some other people I’ve talked to online who it took five to 10 years to get diagnosed.

After getting diagnosed I thought things would be easier, but they weren’t. I went to approximately 14 different doctors before I found the right one. Most doctors, including specialists, hadn’t heard of it, and even the ones who had weren’t really all that knowledgeable. I was like a trophy to some of those doctors, a prized possession, because no one had ever seen someone like me. I was rare…like a unicorn (yeah, I know they don’t exist!).

 

I had doctors lie to me about risk factors to maybe potentially coerce me into choosing that treatment. Luckily I was educating myself and knew better. I had doctors even recommend treatments that were harmful because there’s not as much research out there as for other conditions. Which is why with any illness you need to educate yourself and advocate for yourself, but especially when it comes to a rare condition.

Symptoms for a Rare Syndrome?

When you have a rare syndrome/condition and start experiencing symptoms, you may often start to question if they’re part of your diagnosis, “in your head” or part of another condition entirely. There’s not much of a guideline to go by because there’s not really much research out there, and the doctors themselves unfortunately are not often that much of a help either. The people who help you the most are other people diagnosed with it.

Joining a support group is helpful, but soon you might find the other people have other things wrong that you don’t or vice versa. It’s a confusing thing and you can only keep track of what’s going on. Sometimes you have no idea if your symptoms are a part of your rare syndrome or not – you really just never know. And sometimes you wonder if you’re just being paranoid.

Treatment for a Rare Syndrome?

Now, every rare syndrome is different, but what I was diagnosed with had several different options. The least minimally invasive was a stent; however, stents sometimes migrate and can potentially be dangerous. The next are surgical options. The results are pretty iffy. I mean, there are some successful cases, and there are some not successful cases. That’s kind of how it is. Meanwhile you’re in pain and your rare syndrome is damaging your kidney and you have to do something. Oh, that was a treatment option mentioned to me by one doctor. One doctor recommended I do absolutely nothing and let my kidney fail. What?!

You have to educate yourself the best you can when you have a rare syndrome and don’t just listen to the doctors. Look at research, talk to people (but take it with a grain of salt because everyone is different and every surgeon has different skill levels – if surgery is an option). And don’t make a decision on a whim. Make an educated choice.

Results of Treatment for a Rare Syndrome?

When you don’t have a lot of options (depending on the syndrome) or research, you might not know how it’s going to go. For some people, your option may work gloriously, and for others, it may fail. That’s just how it is. (And yes, I understand that’s how it can be with conditions that aren’t rare as well, but generally there’s more research on better-known conditions.)

For my treatment choice, I chose a surgical option. It relieved a lot of my symptoms; however, it did not relieve my pain. My pain, I believe, is caused by something else. When researching all the surgical options, I had studies of about four or five people, and that was it. Sometimes the studies included fewer. There isn’t a sufficient number of studies, but you work with what you’ve got and you make the best educated “guess” as you can and do what’s best for you.

What’s the ER Like for Someone With a Rare Condition?

As someone with a rare condition, I try to avoid the ER if possible, though it’s not always possible. Sometimes the pain is too much – or whatever else is going on – and I can’t get ahold of my specialist and sometimes I have no choice.

However, the ER’s primary purpose is to get you stable. They may temporarily treat your pain then boot you out the door and tell you to follow up with your doctors. If you don’t know what’s causing your pain (as in my situation currently), they may try to find a solution or rule a few things out, but after a while they may just say you’re OK – even if you’re in pain – and just determine you’re stable and send you on your way nonetheless.

I don’t hate ERs, I really don’t. I’m a nurse myself, and they serve a great purpose and they save many lives, but as a chronic pain patient and a diagnosed epileptic, I have been treated poorly by many ER staff. I’ve been called a “liar” and a “moron” on numerous occasions, been told I was drug-seeking (despite not asking for any pain meds)… It’s a medical profession – where’s the compassion? That’s all I ask.

I never look forward to going to the ER if I have to go, but sometimes it’s unavoidable and I do what’s best for myself. I advocate for myself if I feel mistreated in any way and educate the staff. That’s another thing – the staff often have no clue what your rare condition is – and rightfully so, because it’s rare. So you may need to be prepared to explain it a million times.

Occasionally you’ll find a doctor, nurse practitioner or physician’s assistant who pretends like they know what it is. Not to insult them, but most of the time they don’t really know what it is. I don’t expect or think less of any doctor, nurse or medical professional who doesn’t know everything. That would be impossible. Ask me questions! Tell me upfront you’ve never heard about it and I’ll be happy to explain in detail. It also makes me trust the doctor more when they’re upfront with me. I always tell my patient when I don’t know the answer to a question. Then I go and find out for them. No sense in BS-ing them or lying to them or providing them with false information.

So yes, living with a rare medical condition can be frustrating at times…especially when you don’t know what’s going on with your body and whether or not it’s the cause of x, y, z symptoms, but you learn to deal with it one step at a time.

Educate and advocate for yourself…my best advice.

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What Life With Rare Disease Really Looks Like

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What rare disease really looks like:

An endless array of medical tests, all of which come back “normal” or “inconclusive.”

Carrying armfuls of documentation to every appointment to “prove” you’ve already had the tests done, already had certain conditions ruled out, already tried the standard remedies.

Years’-long searches for a diagnosis, which may or may never come.

Pre-prepared packets of information about your rare illness – assuming you’ve secured a diagnosis – to present to your doctors so they can research what you already know and “get back to you.”

That all-too-familiar fear in your gut as you sit in the waiting area of a new doctor’s office. Will this doctor actually believe you, or will he write you off like the last one? Will this doctor be kind, or will he scoff at you and say “It’s all in your head?” And even if he does believe, will he be able to offer help?

Debts of thousands upon thousands of dollars for drugs and treatments that may or may not help at all.

 

Seeing dozens of specialists. If you’re lucky, these specialists will try to work together. If not, balancing the different doctors’ orders is entirely up to you.

Sleepless nights from insomnia, pain, panic or some other symptom. But when the morning comes, your situation is no better, because you have to get up and greet a day that could bring any number of terrifying symptoms.

Bottles and bottles of prescription medications, some of them now necessary for survival, some of them just evidence of the rabbit holes you’ve gone down that just lead to dead ends.

Judgment on the faces of strangers (and, more heartbreakingly, sometimes on the faces of family/friends) when you venture from your home. They see your handicap placard, and, unless you’re in a wheelchair or assisted by some other very visible device, they often judge you. Some will even have the audacity to say hurtful things: “You don’t look sick to me.”

Crying, often at what would be considered “inappropriate” times, because you are unable to do what you once could or what others can do with ease.

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Seeing a therapist in an attempt to mentally cope with what you are physically experiencing.

Emails or phone calls from well-meaning family and friends, offering diagnoses they saw on television or “cures” they read online. Regardless of the source, your rare disease will definitely be cured if you try this new berry they found in Botswana that only grows in August…

That one guy who insists you “just haven’t been praying hard enough.”

Shying away from pictures that show a time when you felt better.

Avoiding mirrors because you don’t recognize yourself in the reflection they show.

Developing social anxiety because you fear the disappointment of friends and family when you announce you have to cancel. Again.

And…me.

Rare disease looks like me.

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Thinkstock photo via kotoffei.

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Why Research on Rare Diseases Matters

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Did you know 1 in 17 people, or 7 percent of the population, will be affected by a rare disease at some point in their lives?

Having such a rare disease as a young person is very difficult. This is why I really admire others with rare diseases but also I would absolutely love more research on rare diseases so other people don’t have to go through numerous hospital visits where doctors don’t understand the condition you have to live with.

Research into rare diseases isn’t just vital to maybe treat or even cure these diseases, but research can also put us as young people much more at ease because it means medical professionals can be given more knowledge on some of the rare diseases their patients have to live with daily.

 

I have been in the emergency room quite a bit over the last four months and undergone different tests and appointments. It hasn’t been the easiest of times but most of all it has been extremely frustrating that my rare disease is not understood. Don’t get me wrong, some doctors and nurses really have done their best to understand, but even with me trying to explain it, it is obvious it is difficult to understand what it is. I am not expecting every doctor to understand every single condition, but even more research done on other conditions relevant to my own means it could gather more information. Going to the ER as a young person and not knowing what’s going on can make you feel vulnerable. Going to the ER as a young person with a rare condition that no one understands makes me feel extremely worried.

Every day, rare disease patients have to show courage and keep believing that one day, there will be research on their illness which could have a life-changing impact on them. Until then, they rely on the professionals who we put trust in every day to treat us.

Patients themselves also like to become their own researchers because as we are waiting and forever hoping for some vital bits of research on our rare disease, we want to do as much as we can, or at least do research ourselves to try and come to grips with what we are dealing with on a daily basis. Many people with rare diseases become glued to Google and other ways of searching their diseases, but as we all know, this can just worry people, more and not everything you read is valid. But without any research from professionals, what can we go by?

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So to young people with a rare disease: do not give up hope because researchers want to find new treatments just as much as we want to be treated. It is possible that as we get older, there could be some information or treatment which could change our lives forever.

People may not see or understand rare diseases, but we feel them and they really do matter.

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A Day in My Life With a Rare Sleep Disorder

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It is hard to understand the pain of another with no physical trace of evidence. To think there is a ghost living within a person who is standing right in front of you. But here I am. I cannot ask for much more than for those who love me to try to understand my ghost. To embrace this battle I have within myself and support me through my symptoms. The ugly ones. The ones that make me antisocial, bitter or just plain confusing.

To anyone who does not understand my neurological condition and how it affects me physically and mentally, I want to give you a snapshot of my life. Just one day:

6:15 a.m. OK, my first alarm went off. Before I snooze, take my meds. So when the third alarm goes off, maybe I will be able to get up.

6:45 a.m. Third alarm goes off. Snooze…three minutes.

7:00 a.m. *that really annoying, I-really-have-to-get-up-now alarm* Crap, I have 10 minutes to brush my teeth, get dressed and get something into my stomach. But do I want to eat yet? My meds are more effective sometimes when I don’t eat for a little.

7:45 a.m. I’m starving.

 

8:30 a.m. I’m still not awake. Maybe I should take more meds. But I don’t want to overdo it, because I know the max dose is 55 mg and if I take another one now then I might not be able to take another later. And then I might crash by 2:00 p.m. really hard.

9:30 a.m. My body aches. I am going to take my meds. Maybe just a half. That will get me to lunch. Then I’ll take the other half at lunch.

11 a.m. Where’s a couch, a dark space, a bed? My eyes are burning and my body is aching.

11:15 a.m. OK, I feel a little better since I got to lie down. “Want to do something tonight?” Text. Heck yeah, I want to!

11:27 a.m. *lunch-is-over alarm* I’m not going to make it.

12:00 p.m. Take the second half of the med. You will perk up for the rest of the day.

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12-12:45 p.m. Why can’t my meds make me feel immediate relief? Like I just take it and I’m cured?

1:15 p.m. I feel almost awake! Woohoo, why can’t I feel this good all the time? *cracks joke* Whoa, where’d that come from? I have a personality?

2:00 p.m. *watches clock* This is where I plan out if I physically and mentally have enough strength to plan to do anything after work. No groceries, gym, making dinner, showering for me if I feel my body shutting down! I’m not hungry when I’m asleep!

4:00 p.m. Phew. Clock out time. I made it another day. This is where the exhaustion actually hits me like a wave. My body melts into my car seats. Music is too much stimulus. Will anyone be home that might talk to me when I get home? Because I need my bed. And I need quiet. My mind hurts. I’m void of emotion and the energy to care about relationships.

5:00 p.m. I love how I feel after the gym. I love the transformations I am capable of making. My body is not going to get stronger or leaner by lying in bed. Humans are not made to lie down forever. Go to the gym! You will regret it if you don’t. And think how good you feel after.

5:20 p.m. “Are you coming to work out today?” No…sorry. Wow, what a waste of money.

6:00 p.m. You skipped the gym again to lay in bed…really? At least get up and do your laundry or something. “Are we still hanging out tonight?” *has excuse why I have to cancel plans from five hours ago*

8:30 p.m. Oh, I fell asleep for two and a half hours? Guess I should eat something. Well the good news is at least I know I can still sleep all night, no problem.

10:00 p.m. My laundry is still not done. Are you gonna shower? No, I’ll do it in the morning.

10:30 p.m. Can’t I just drop out of everything and sleep as long as my body lets me, for a year maybe? Maybe I just need to catch up on all the sleep I’ve missed throughout my life and then I’ll feel better…

6:15 a.m. *first alarm*

I have a rare sleep disorder. I’m not embarrassed of it. I will talk freely of it and without guilt of doing so. It is not by my own personal error that my brain has faults within itself.

8:00 a.m. me could be happy, dancing across the room with a big smile on my face. I am free and positive and everything people like to be around. 4:30 p.m. me could physically have an urge to scream that is so overwhelming I cry big, silent crocodile tears and curl up in a ball and stay in one place for the rest of the day.

To someone who loves me: I know it’s hard you’ll never know when I’ll be which, but just take the time to imagine what it is like for me. I never know either. And I really don’t enjoy the one you don’t like, either.

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6 Essentials for Being a Successful 'Mommy-Advocate'

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Gene Sequencing and IEP Goals — what do these things have in common? In one 24 hour period, I sat in rooms with people who have the power to make or break my kids. Experts in their fields; caring people with too much to do in a single day.

Connecting the dots and making sure nothing is missed is my job. I’m the mom of kids with disabilities. I hold the title of, “mommy-advocate.”

I’ve been introduced in pretty impressive ways during my 20+ year professional career: director of nonprofit agencies, graduate of prestigious leadership programs, Champion of Change. But let me tell you, “mommy-advocate” still scares me.

Nobel prize winner Elizabeth Blackburn found that “highly stressed women experienced the equivalent of an additional 9 to 17 years of aging when compared to non-stressed women” in her study of mothers parenting chronically ill children versus mothers parenting healthy children. Other studies have compared this stress to that of combat soldiers. Dads do not face the same stress levels, as mothers tend to be the main caregivers.

Marsha Mailick Selzer, an authority on families of children with developmental disabilities, describes this phenomena as “the physiological residue of daily stress,” in a longitudinal study of families of individuals with autism. For many years, I’ve described our journey as “hard hat parenting.” The only way to survive the journey and even thrive (yes, it’s possible) is to be strategic.

I remember the first Individualized Education Plan (IEP) meeting like it was yesterday, although it was nearly nine years ago. An IEP is the written document describing the child’s educational needs and the strategies to be employed to meet those needs. Special education is protected by the federal Individuals with Disabilities Education Act (IDEA).

My son was in second grade at a good public elementary school. He had been sick his entire life, and we were trying desperately to find an environment where he could be successful in school. He missed over 100 days of both, kindergarten and first grade, due to infections which is quite typical for a child with primary immune deficiency, even if they are receiving immunoglobulin infusions or IVIG regularly, like my son was.

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The school was not happy about his doctor-excused absences but neither were we! The school had refused to move forward with the assessments in a timely manner which was legally within their rights as they have nearly an entire school year to perform these assessments. We wanted Ethan’s educational needs to be met so we private paid for the evaluations using a provider the district recognized as an expert. I proceeded to the meeting with these documents in hand, as well as the knowledge that Ethan had a sensory integration disorder as well as developmental delays, in addition to his medical issues.

During this season of my life, I was the Director of Operations for a regional children’s advocacy organization which basically meant I was a professional children’s advocate. Part of that position meant I was responsible for grants and programs that included advocating within the school system for children with disabilities.

Let me recap all of the advantages I had in preparation for this first IEP meeting: I was educated and knowledgeable about the legal rights of children with disabilities in educational settings, I had the ability to private pay for an assessment and I had professional credentials that provided credibility. I was also shaking in my boots when I left my office for the meeting.

Why?

The meeting was adversarial from the start as the school administration did not want to provide the services I was requesting for my child. Services require staff-time and money and many schools do not choose to prioritize children with disabilities even when federal law requires it. At the meeting, I am the parent (non-professional), and I am sitting at the table surrounded by educational professionals — teachers, administrators and district level personnel — so I’m severely outnumbered. That is a really scary place to be.

Years later, after building some confidence in myself and the process, I stood up towards the end of an IEP meeting for my daughter, quietly gathered up my documents, and said calmly, “Thank you for your time today. I want to let you know the next step for me here is to prepare the formal appeal letter that will go to the Superintendent.” That statement was quickly followed by a request for me to sit back down and a commitment to reach an agreement on my daughter’s services.

In contrast to the school described above, my daughter’s current school is amazing. They are truly committed to meeting her needs and have agreed to every single request for services I’ve made. Honestly, the meetings are still hard. Sitting around the table full of professionals discussing your child’s weaknesses is stressful. Having people scrutinize the way you parent, the medication decisions you’ve made, the therapy you’ve selected — that’s hard stuff. Justifying decisions that have been carefully considered based upon years of experience with your own child is beyond description. Yet, it’s also one of the most important things a “mommy-advocate” must do.

Less than 24 hours before this IEP meeting at my daughter’s school, my son and I were sitting in the office of an ultra-rare disease specialist. A geneticist we had been waiting to see for months. My job was to quickly summarize 16 years of Ethan’s life after conception and do it in a way that compelled this very busy doctor to take on Ethan’s case. All my powers of negotiation and recollection were required. If he takes the case, he will order complete genome sequencing and the medical school where he teaches will cover the exorbitant costs. All of the appropriate records must be at my fingertips and in my brain. The stress of the incredibly important moment must be pushed aside as I tell the story and the PTSD style recollection of his birth and illnesses must be overcome.

I’m happy to say the geneticist did take Ethan’s case and Jenna’s fifth grade IEP, which will transition her to middle school next year, is complete and ideal. Recollecting the complex set of skills needed to pull off these impressive feats, I’ve narrowed it down to six essentials:

1. Be prepared.

Create a rolling summary that can easily be updated when new information arises. I use a reverse-chronological order document in Microsoft Word that I update after every doctor appointment, major illness, change in medication and educational evaluation.

2. Know your stuff.

Have a clearly defined desired outcome in mind for the meeting. What do you want from the school or the doctor? Be specific and have this written down in advance so if you become emotional, you can quickly glance at this goal and get yourself back on track.

3. Look the part.

First impressions are key. Dress in a manner similar to the way the professionals will be dressed. Speak with authority using proper terms demonstrating you are educated on the topics at hand.

4. Make eye contact.

If communication is represented by 100 percent, words are only seven percent! Your body language and tone of voice are critical and represent 54 percent and 39 percent respectively. Making eye contact, having good posture, leaning in to the conversation — all of those things matter when you are working hard to be understood and to understand.

5. Be positive.

If you approach the interaction with negativity in any way, the professional automatically feels overwhelmed and sees you as less of a partner. In order to be perceived as a proactive problem-solver worthy of the partner status with the professional, you must remain positive.

6. Be appreciative.

Regardless of the outcome of the meeting, thank the professional for their time and for caring about your child. These people have very difficult jobs and more work to do in a day than they have time. Acknowledge that, and let them know you are there to truly be part of the solution for your child.

Hard-hat parenting is not for the timid, but with the right planning and strategies you can have successes for your child and help your family thrive.

I need to go now and get the records updated for this week’s set of appointments and meetings.

Follow this journey at Chasing Surrender

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To Those Who Stand With Me as I Fight Against My Rare Disease

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My chronic, rare disease is with me every day. There is not one day that I get to take a break and forget of its existence. It takes intense focus and stamina to fight an everyday battle, to manage the unmanageable and stay one step ahead of the unpredictable. Health always has to be the number one priority, with everything else falling in line behind it because without my health, I have nothing. It can be exhausting and extremely scary.

I understand that for all of us, rare illness or not, the future is unknown. But for those of us living with a rare illness, the stability of that future is also unknown. I don’t know exactly what things like having children or old age looks like for me. I don’t know what the future regarding my medication or potential new therapies will be. There are limited resources, if any, to get the answer to these questions. I often question, “Is it even possible?” I was raised to believe that I could do anything I set my mind to and I truly believe that. I use that mindset to motivate myself every day to keep going despite the challenges. But living with a rare disease is a whole other matter not one only of the mind, but one of the body. It is hard to not let my mind wander to the idea that one day my luck and  my relatively good health will run out, and my body, which is missing key elements to survive, will give up on me. Everything is a big question I try not be concerned about – but naturally, I worry. It keeps me up every night and impacts every decision I make.

Most days, I fight rare disease with no hesitation or sense of self-pity. But some days, it is just too much to even process: the pain becomes unbearable or my emotions of feeling useless take over. Sometimes both. Those days are the worst. Those days, having a rare disease overwhelms me and the anger comes pouring out, and sometimes to my own embarrassment, gets directed at you, the person standing by me.

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For this, I will never be able to apologize enough. Please know that I am never angry at you. I am angry at the situation and often, my inability to keep it all together. I am a perfectionist with a rare disease and that is not always a graceful combination. I always think that I should be able to handle everything seamlessly and when I can’t, it feels like a personal failure. None of this is to excuse my action, but to explain to you that I am aware of this flaw I have and reassure you that I work every day to not let having a rare disease turn me into a bitter person. Those of you who know me know that I am not easily angered person, but sometimes, as with all of us, we have our moments.

I recognize that you are not just standing by me, but with me. You are fighting with me and know that I could not fight this fight without you. You are the reason I fight it with such vigor every day. Whether you are one of my fellow rare disease fighter or my unaffected friends and family, you are my strength.

Thank you for understanding when I cannot be there, even if it is a special moment for you. It breaks my heart not to be there with you but I am always there in spirit.

Thank you for adjusting the plans to accommodate me, whether it is where we go or how long we stay. I am so amazed to have someone in my life that helps me feel included.

Thank you for staying with me while I am sick and in pain, even if you cannot do anything to make it go away. It is OK if you cannot think of anything to say. It is hard enough to be in pain, especially to have to go through it alone. Just you being there means the world to me.

Thank you for reminding me that tomorrow is a new day and that yesterday’s pain will fade.

Thank you for making me laugh and smile, when all I feel like doing is crying. Your words of reassurance and positive spirit are priceless.

Thank you for never making me feel like the burden that my illness tries to convince me I am. I struggle every day to keep my confidence up. I often overcompensate, trying to prove to myself that I am independent, that I do not need anybody – but we all know that is not true. You remind me that we all need help sometimes.

Thank you for not treating me like a patient, but like a person. The truth is, I do need you. Not in the sense that I need you to take care of me, but just to remind me why I work so hard to take care of myself and for the emotional support.

And most importantly, thank you for staying. Despite the endless hospitalizations and medical treatments, the burst of anger and moods swings, the overanalyzing or incessant planning, you chose to stay when a lot of people left. I cannot promise that the it will always be easy to live a life with me, but what I can say is that I recognize your support. I will always try to ensure our moments of happiness, laughter and joy outweigh the negativity. I promise  I will always fight anything that tries to tear us down. And please, always know that you are the primary reason my fight against my rare disease has been a successful one.

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