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10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis

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This is a day you will never forget: The day a doctor tells you your child has a rare disease. I recall doctors using medical terminology I’d never heard before while showing me MRI images I didn’t want to see because I didn’t want it to be true.

The initial shock felt like a really bad nightmare. How had I lived 36 years without ever hearing about this horrible disease? It was incomprehensible to me that this disease even existed in the first place, let alone that our precious child has the misfortune of having it. How was this even possible? Why is this happening to my child?

Statistically, we had a better chance of winning the lottery, but the news was the complete opposite. The clinical diagnosis was worse than I ever imagined: I was told my then-2-year-old had a progressive neurological disease with a life expectancy of four to 10 years.

Every experience is different, but here are a few practical things I’ve learned by being the mother of a child with a rare disease:

1. You are the expert when it comes to your child.

My daughter’s initial diagnosis was incorrect. That’s right. Turns out she has a completely different disease. We are all conditioned to believe doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training and perhaps most important, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat you. However, when your child has a very rare disease, most have never seen a patient like your child. An excellent doctor will acknowledge that the parents are the experts when it comes to their child’s rare disease and ask for your input.

2. Instincts are more scientific than a doctor’s best guess.

Again, when the diagnosis is rare, parents may know more than the professionals.

3. Ask a friend or a family member to go to appointments with you to take notes (or record the appointment). 

Medical terminology and genetic information gets confusing fast, especially when hearing it about your child.

4. Don’t be afraid to seek grief counseling.

This diagnosis will change your life in an instant and take you on a wild, emotional roller coaster ride. Your marriage, family, career, finances, emotional well-being and personal health will suffer from this diagnosis. Seek guidance.

5. Take care of yourself. 

You hear it every time you fly on an airplane: Please secure your own oxygen mask first before you try to help others. I constantly fail in this department, but it really is one of the best things you can do for your family.

girl standing on beach
Glenda’s daughter

6. If you don’t advocate for your child, nobody else will do it for you. 

You can do as little or as much as you want, but it all begins and ends with you. That said, there are many individuals and organizations here to help you navigate your way. Some of my best resources are other parents farther along on this journey. Network with them via social media and ask for their guidance. Rare disease organizations, patients and parents are gaining a stronger presence each day.

7) You are not alone. A rare diagnosis can feel really lonely, but there is a community here to support you. They may not live in your community per se, but social media is a powerful tool to unite virtual communities across the globe. Although our children may have different diseases, we all share a similar journey. Find a group you feel comfortable with and share your story.

8. Don’t rule out science.

Our child was diagnosed through whole exome sequencing after being misdiagnosed by two doctors. Advancements in genetics are being made dailyDaily.

9. Allow others to help you.

Your friends and family will feel helpless. Sometimes the best gift you can give others is allowing them to help you.

10. You will learn to live in the moment and enjoy your child even more.

Which might be the greatest gift on this journey, albeit a hard-earned one. There are tough days ahead, but there’s also an abundance of love, joy and precious moments with your child.

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Glenda’s daughter

Follow this journey on Hope for Katherine Belle.

The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or illness. It can be lighthearted and funny or more serious — whatever inspires you. Be sure to include at least one intro paragraph for your list. If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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When the Love You Have for Your Child Feels Lonely

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The online conversation went like this: A woman on Facebook posted an article about how a Monsanto chemical might be contributing to the rise in autism. Another woman, self-disclosing as autistic, said the article was fear-mongering and unfairly demonizing to autistic people. A third woman piped in, saying that because 30-some percent of autistic people have intellectual disabilities, it was right and just to fear the rise in autism. I cringed at the implied message: A life of disability is one thing, but a life of intellectual disability? That, in the woman’s eyes, was tragic.

So I added my voice. With tense shoulders, I wrote one sentence cautioning people against assuming a life with intellectual disabilities is tragic. In response, I thought maybe there’d be some cyber-nodding. I hoped maybe the third woman would realize what she was implying, and say, “Oh of course, yes, I didn’t mean it that way.”

But instead the original poster wrote a reply a few inches long, defending the third woman’s views of intellectual disability. She wrote that it “isn’t ableism” to want your child to have all of their limbs and sight, so it’s not ableism to want your child to be able to enjoy all the benefits of a fully cognitive life — like reading and writing. That was just good mothering, she argued. “We all want the best for our kids.”

That’s about when I closed the computer and carefully backed away. It wasn’t that I disagreed with the woman exactly, although it wasn’t that I agreed with her either. Something inside me was sad, so sad that I wanted to strike back, offer a persuasive treatise, construct an argument using transitional words like Consequently and Furthermore. I wanted to deliver this argument (about what? I wasn’t sure) not to the first woman exactly, who was kind and good (and justified in taking Monsanto to task), and not to the third woman, whom I didn’t know, but to something bigger, maybe the unfathomably vast and noisy air around the culture-at-large. Yet all of it, every word I’d write, would just be armor over a sadness I couldn’t quite name. And armored, ineffable sadness does not, my friends, make for an edifying Internet exchange — this much I knew. So I backed away.

*

“Wait,” I said to my husband. “Can I just say one more thing?”

We were standing in the kitchen, surrounded by dirty dishes and grubby counters. Five minutes ago, we’d been in the living room. We’d been sitting on the couch talking about the online conversation, rehashing the fine points, disliking Monsanto (of course) but also wondering whether it was in fact ableist to want a fully able-bodied kid (my husband said yes). But now we were here, in the kitchen, washing dishes, and I was trying to put the subject behind me. I was trying to listen to his day. I was nodding and watching him scrub. Suddenly I stopped him.

I had one more thing to say. I had the thing to say.

“Go ahead,” my husband said.

I said it slowly and clearly and sadly, and the sentence felt as weighty as a psalm: “It’s hard having a child that other people actively don’t want.” There it was. My husband stopped what he was doing — scrubbing the stove? putting away silverware? — and turned to me. He opened his arms for a hug.

I pressed my cheek into his fleece sweatshirt and stared at the wall.

“I want her,” he said.

*

Girl in a wide-brimmed straw hat, looking off to her left.
Fiona in a wide-brimmed straw hat, looking off to her left.

I want her too. With all my might. I want her, and not the her she would be if she had all her fourth chromosome. I want who she is, as she is. This is another kind of good mothering.

It is strange, though, this loving. I love the kind of kid that others are permitted to say they don’t want. Most pregnant women won’t admit they don’t want a girl, or a boy. But about their future baby, they’ll say as long as it’s healthy. And people will nod. Because it’s OK in our culture to say this. Because when you suggest that a life with intellectual disabilities is not a life less worth living, you might incur inches-long Facebook replies of adamant disagreement.

A friend recently said she didn’t want to have kids too much farther past her present age (37) because of “the risks.” The friend didn’t tell me directly. The friend told another friend, who then told me, and when I heard this I cringed. We all know what “the risks” are. They are a code for people like my daughter, Fiona.

I’m not saying these parents are “wrong” for wanting a certain kind of child. I’m just saying it’s hard living in the zone of parenting other people hope to avoid.

It’s hard having a child other people actively don’t want.

Do you ever say a sentence that strikes so firm and clear and true on the nail of your emotions that you can practically hear the ding? It’s a pleasant feeling, hearing that ding. In my husband’s arms, I looked at that kitchen wall and repeated the sentence to myself again and again. It explained so much about the loneliness of this life, the life of parenting Fiona. It explained the fatigue I sometimes feel after going out in public with her. Beneath people’s adoration of Fiona, of her beautiful smile and striking blue eyes and eagerness to connect, is the unnamed truth: some people feel blessed for not having children like her. And that is a sentence I choke on.

*

I know the pat reply: “They don’t know what they’re missing.” “Fiona is special, a gift from God.” But none of that erases that the culture-at-large often sees her life situation as sad. “My daughter is nonverbal and uses a communication app,” I told someone. The woman’s mouth turned down into a frown, and she offered me puppy eyebrows of sympathy.

Sometimes you have to turn off the voices, the Internet noises. Sometimes you have to turn toward silence, which feels like turning toward the source, as pregnant with quiet as the cushioned sound of air in a snowfall.

But sometimes you need other people to remind you how to do that. So a few evenings later, after the kids were again asleep and my husband and I were left with the day’s final labors — dirty dishes — I closed down Facebook and hit play on Krista Tippet’s podcast, On Being. I hadn’t listened to it in months, but by chance, she was interviewing Jean Vanier. He’s the founder of L’Arche, which are communities of “people with and without intellectually disabilities liv[ing] and work[ing] together as peers.” L’Arche USA’s website says, “People who have intellectual disabilities live in the shadows of a persistent view — present in all cultures — that they are the undesirables. This is one of our world’s significant injustices. It is one we can change.”

Vanier found his calling when he encountered men with disabilities in a French asylum. Tippet asks him about his experiences there, and this is his reply:

I come back to the reality of pleasure, and to the reality of what is my deepest desire? And what is your deepest desire? And the deepest desire for us all is to be appreciated. To be loved. To be seen as somebody of value…

So really, the first meeting I had with people with disabilities, what touched me was their cry for relationship. Some of them had been in a psychiatric hospital, others, all of them had lived pain, and the pain of rejection. One of the words of Jesus to Peter, you find this at the end of the gospel of John, “Do you love me.” So there’s the cry of God, saying “Do you love me,” and the cry of people who have been wounded, put aside, who have lost trust in themselves, they’ve been considered as mad, and all the rest, and their cry is “Do you love me,” and it’s these two cries that come together…

Here’s the balm: cries come together. Love by design won’t stay lonely. The comfort is in the cry itself. It tells me: answer back.

Follow this journey on Star In Her Eye.

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The Crucial Role Patients Play in Rare Disease Diagnoses

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Doctors are taught “if you hear hoof beats, think horses, not zebras.” Horses are the common conditions — zebras are the rare diseases. This advice works most of the time, but for one in 10 people in the U.S., those hoof beats signify a zebra — a rare disease.

The Food and Drug Administration defines a disease as rare if it affects fewer than 200,000 Americans at any given time. There are approximately 7,000 known rare diseases, and these illnesses pose a range of challenges from diagnosis to treatment.

To raise awareness about rare diseases and their impact on patients’ lives, the European Organization for Rare Disorders created Rare Disease Day in 2008. Rare Disease Day takes place on the last day of February each year. Since 2009, the National Organization for Rare Disorders (NORD) has sponsored Rare Disease Day in the U.S.

The theme of Rare Disease Day 2016 is “Patient Voice,” with the slogan “Join us in making the voice of rare diseases heard.” Patients with rare diseases are experts in their conditions — by necessity — since medical professionals often lack knowledge about specific rare diseases.

Shire’s 2013 Rare Disease Impact Report found that physicians generally lack the time, resources, and background to properly identify patients with rare diseases. Among the physicians in the U.S. surveyed, 92 percent reported difficulties addressing the needs of patients with rare diseases during typical office visits. Additionally, the survey found that two-thirds of U.S. patients need to provide their health care professionals with details about their rare diseases. This highlights the crucial role the patient voice plays in the diagnosis and treatment of rare diseases.

In February 2004, Jen Melanson had surgery to remove her thyroid. The surgery irreparably damaged her parathyroid glands, leaving her with the rare disease hypoparathyroidism. After struggling with her disease for several years, Jen poured herself into researching ways to achieve a better quality of life. She participated in clinical trials at the National Institutes of Health and Massachusetts General Hospital, where she found a drug that significantly improved her health and wellbeing.

Jen did not stop there. When her study drug came before the FDA for approval, Jen traveled to Washington, D.C. to provide patient testimony in support of the drug, which was successfully approved. She joined Running for Rare Diseases, a program that matches runners with rare disease patients to raise awareness and funds for NORD’s Undiagnosed Diseases Network. Jen was matched with a runner named Amy, and they worked together to raise awareness for hypoparathyroidism. After Amy ran the 2015 Boston Marathon with Jen’s name on her shirt, Jen was inspired to run in a half marathon herself.

Jen became a powerful patient voice and successful rare disease advocate. But two-thirds of Americans affected by rare diseases are children. When they cannot advocate for themselves, their parents become their voices.

When Eliza O’Neill was diagnosed with Sanfilippo syndrome Type A, a deadly genetic disorder that currently has no cure, her family started the Cure Sanfilippo Foundation. To raise money for this nonprofit, her father launched the “Saving Eliza” campaign on GoFundMe; it is one of the most successful campaigns in GoFundMe history. The money from this campaign supports researchers at Nationwide Children’s Hospital in Columbus, Ohio, who have been working towards a cure for Sanfilippo syndrome for nearly two decades.

For Valerie Tharp Byers, the O’Neills’ awareness efforts provided the clue she needed to get the correct diagnosis for her son, Will. Though Will was diagnosed with autism, Valerie and her husband felt that there was another cause for Will’s developmental delays. When she saw the “Saving Eliza” campaign video, Valerie started crying, and felt like she was seeing her son. She took her suspicions to Will’s doctors, and genetic testing confirmed that Will has Sanfilippo syndrome Type B. Valerie reached out to the O’Neill family to learn more about Sanfilippo syndrome.

Matt Might and his wife Cristina spent four-and-a-half years searching for a diagnosis for their son, Bertrand. After finally identifying mutations to the NGLY1 gene as the cause of Bertrand’s health problems, Matt and Cristina were told that Bertrand was the only person in the world known to have these mutations. Matt took to the internet to find more patients. He wrote a lengthy blog post about Bertrand’s rollercoaster diagnostic journey. In just two months, he found two patients with the same mutations in Turkey. In about three years, dozens of patients were identified, thanks to Matt’s blog post.

These are just a few examples of the impact patient voices have in the rare disease community. On February 29, the rare disease community will raise its collective voice to bring awareness to health care professionals, lawmakers and the general public about rare diseases and their impact on patients’ lives. Follow the hashtag #RareDiseaseDay on social media to learn more, and discover how you can get involved.

The Mighty is asking the following: Tell us one thing your loved ones might not know about your experience with disability, disease or mental illness. What would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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This Is What It Means to Love Someone With a Rare Disorder

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Today is Rare Disease Day, and from families to doctors to organizations, we’re helping spread the world about rare conditions, disorders and diseases.

Yes, you can donate money and hit the share button on articles like this, but one of the easiest things you can do to help someone with a rare disease is give them your love and support.

The Mighty teamed up with the Muscular Dystrophy Association (MDA) to ask their community what it means to love someone with a rare disorder.

Here’s what they had to say:

1. “It means you love them.” —Robert Peter Leali

Blank love message note with hearts and twine

2. “Staying one step ahead of the disease.” —Lynda Joy Lorenson

3. “It means showing respect for someone who’s fighting for their life.” —Jennifer Paulson

4. “It means learning all you can and doing everything you can while educating everyone that you can.” —Amber Zylla

Concentric Circles Forming In Still Water

5. “Overcoming frustrations, being resilient… and hoping for equal acceptance by society without discrimination.” —Shiranthi Kodagoda Peiris

6. “Living with someone with a rare disease is not only one of the most painful experiences you will ever go through in your life but also the most beautiful thing in the world because you see a person at their most vulnerable. You see strength, hope, love, appreciation and kindness… Worldly things don’t matter. You wake up appreciating one more day, one more ‘I love you,’ one more touch. When you live with someone who is ill, every moment matters.” —Nicole DeSimone Grant

Chamomilla

7. “It means fight, love, support, strength wherever you can get it from. From within or from others.” —Amy Friend Willoughby

8. “Give them dignity. Do not look at them as if they have disease but as a human being.” —Mary Tashjian

Retro sky with clouds

9. “You pray for good doctors and caregivers who might put themselves in their patient’s place.” —Aimee Mattson

10. “To me it means, not knowing if this is the last time you give your daddy a kiss and hug goodbye. Not knowing if it’s going to be the last time you get to hear him say the words, ‘I love you.’ Not knowing if he’ll be able to walk you down the aisle … To me it’s not knowing.” —Holley Lewis

11. “It means feeling bad that you hope someone famous gets the diagnosis so people will want to help find a cure.” —Kathy Beck

12. “It means trying to stay positive when the future is so bleak for a child I love. It means to prepare to battle against something so unforgiving it is heartbreaking. It means finding happiness and strength to move forward in the race to establish effective treatment and the cure. It means loving my grandson to the moon and back always!” —Linda Wollam

The Sun Rising Over Mt. Oakan. Hokkaido, Japan

13. “New layers of both grief and optimism.” —Louise Haberfield

14. “It means many sleepless nights, stress to a level you never new existed. It means blood, sweat and tears. It means the voice that needs to be heard. Finally it means love.” —Alisha Powers

15. “It is not easy, but we have to keep the faith!” —Deborah Bishop Clark

16. “Have patience, understanding and be thankful you got another day with your loved one.” —Alana Stevens

Pure white snowdrops against a dark background

17. “Hold them close every day because tomorrow is not promised.” —Carly Elizabeth

18. “Believe.” —Melissa Dillon

19. “Unconditional love forever.” —Peggy B Wolford

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Images via ThinkStock

Some responses have been edited for clarity and brevity

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What Does It Mean to Be 'Rare'? You Told Us.

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We asked our rare disease community this question: What does it mean to be “rare”?

Their answers are heartfelt, eye-opening and important, and will hopefully inspire others to be more compassionate when a loved one or even an acquaintance explains a diagnosis.

Take a look:

1. “When you go to the hospital and the doctor goes, “OK, I’ll be back in a minute.” Fifteen minutes later. ‘I’m sorry had to talk to others doctors because I’ve never heard of it and I do not know how to treat you.’” — Joanna Ramsey

2. “Isolated… All you want is to share your experiences with others, but because it’s so rare, there aren’t many others.” — Samantha Sikorski Raynor

3. “It can make you feel as if you’re an outcast. Most people have no idea what 24/7 exhaustion or being in true pain really feels like. Lucky for them, they’ll never understand.” — Lexi Potter

Black umbrellas with one red umbrella and quote "It can make you feel like you're an outcast."

4. “It makes me feel like my struggles aren’t valid because I have to constantly explain what my disease is and how it affects me. There isn’t the same compassion and understanding with a rare disease as there is with some of the more well-known conditions.” — Amanda Baldassari

5. “Having a rare disease is a hard thing to live with. It is a constant battle between the outer shell and core of you. It is debilitating physically, physiologically and emotionally. Everyone thinks if you look well on the outside, that must mean you’re OK! In our case, however, it is far from true. What they don’t realize is how hard it was for you go get out of bed in the morning, how hard it was to put pants on, how hard it was to make yourself breakfast and how hard it was to look at yourself in the mirror and put on a fake smile for the world. Many people are unaware of just how many illnesses there are, and they’re quick to blow off illnesses with long names, or names they’ve never heard.” — Tiff Paige Miller

6. “I feel so, so lonely.” — Vicky Wilson

7. “It sometimes makes you feel like others think you’re making it up because when I get asked about my conditions hardly anyone has heard of them — not even doctors sometimes. I always have to explain.” — Katrina Dyer-Davies

8. “To me, being ‘rare’ means frustration. If I need emergency treatment, I can’t just go to the emergency department like everybody else. They have no idea what to do for me and my specialist is 500 miles away. Imagine your house being on fire, and you call 911, and the fireman comes to you and says, ‘Oh, sorry, I’ve never seen a fire before and I can’t put it out for you.’ That is what being rare means to me.” — Kerri Symes

Fire with words "Imagine your house being on fire, and you call 911, and the fireman comes to you and says, 'Oh, sorry, I've never seen a fire before and I can't put it out for you.' That is what being rare means to me."

9. “When you have a rare disease like I do (babesia), the doctors at the hospital have only read about it in the New England Journal of Medicine. They’ve never met anyone with it, they don’t know how to pronounce it or spell it, let alone treat it.” — Chronic Beauty

10.It means doctors dismissing you because they can’t figure out how to help you. It means doctors Googling your condition while you’re in their office. But it also means that when you find others with the same condition, you can empathize with everything they are going through.” — Sasha Nelson

11. “Having a rare form of a non-rare disease is weird. Really, really weird.” — Ellie Jean B

12.It’s trying to find a balance between knowing my condition (mast cell disease) and body better than the doctors I’m going to see, but still needing their input because they know the medicine. It’s trying to reach that mutual understanding that they know the science but only get a snapshot of our daily lives, and we know our bodies better than they ever will.” — Kylene Boka

13. “To me, rare means not having treatments to help you live a ‘typical’ life.” — Alicia Estadt

14. “You feel constantly dismissed. Doctors do not know how to treat or diagnose you. Friends think you are faking it. Everyone you know is a ‘doctor’ and tells you what you should do to be cured.” — Hanna Danielle Stutts

15. “I feel lucky. Lucky to be able to share my experiences with others who are struggling with rarity and uniqueness. I’m also lucky to have such rare and interesting people in my corner as well!” — Lindsay Livingston

16. “I feel like I am carrying the weight of the world on my shoulders every single day. Between advocating on behalf of myself and my kids, providing ‘continuing educating’ for providers in the medical field who are unaware of our conditions, playing secretary/concierge trying to get all the appointments scheduled and calling specialists on a consistent basis to see if there have been any cancelations or remembering to request refills and/or authorizations for prescriptions, and being a patient, it can be too much to handle. It feels like quicksand, but I have to keep fighting because who else will?” — Christy Sumner Rue

sand with words "It feels like quicksand but I have to keep fighting because who else will?"

17. “It makes me feel like a freak show.” — Rebecca Walz

18. “It usually feels itchy, painful, sometimes scary and sometimes isolating. And others can make me feel unheard, doubted and judged. But on days like today I’m reminded how far I’ve come since finding a doctor who listens, cares and works hard to help me feel better, and friends who can relate. I don’t feel so weird or alone! I feel grateful.” — Sean-Michael Gettys

19. “It makes me feel like a guinea pig or a science experiment since being rare equals less funding for treatment.” — Christina Schulz

20. “It makes me feel like a broken record. I’m constantly having to repeat my entire medical history to people (let’s give it a low estimate…) about eight times per doctor’s appointment.” — Katie Taafe

broken record with word "It makes me feel like a broken record."

21. “It feels like you’ll never get the help you’re so desperately seeking because nobody seems to understand and there’s usually no cure and little treatment.” — Shana Romancheck

22. “It can be lonely and isolating to have a rare disease. Using social media to connect to people in a similar situation all over the world helps.” — Jason Heather Tanner

23. “It makes you incredibly self-conscious. It allows people to discredit you and judge you. Then on the other hand it thickens your skin and really builds your strength.” — Ali Mygrants

24. “Certain government services try to pretend I don’t exist. I don’t fit into their categories, so either I’m lying, I’m deluded or I don’t deserve their help.” — Felicity Smith

25. “It is not nice being one in a million. It is not special. It is frustrating, depressing and extremely tiring. And I have yet to meet someone nearby who truly understands. No, it’s not special being one in a million; it’s lonely.” — Karen Taylor

white chairs with one red chair and words "It is not nice being one in a million."

26. “The stigma and ignorance I encounter on a regular basis is exhausting.” — Syrena Clark

27. “Doctors don’t believe I’m in pain, and friends think I’m a hypochondriac.” — Calliope Krystal Pia Kilplainen

28. “I have to pretend to be someone I’m not or I won’t have have anything in common with anyone.” — Malin Cronborn

29. “Being rare means I’m usually a guinea pig for doctors, procedures, treatments and medications. It means knowing that most of the time, the things we try to stop the progression of my disease won’t work. But it also means fighting for a life in spite of that knowledge. Being rare also gives us the unusual opportunity to educate people around us in hopes that, one day, we won’t be quite so unheard of anymore.” — Christina Ebersohl

One bird flies away from the flock with words "Being rare also gives us the unusual opportunity to educate people around us in hopes that, one day, we won't be quite so unheard of anymore."

Do you have a rare condition? What does being “rare’ mean to you? Let us know in the comments below.

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What It Means to Be One of the ‘Rarities’

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Happy Rare Disease Day! Please wear jeans today to raise awareness.

Because I can’t. I cannot fit in any of my jeans at the moment, thanks to Prednisone. Even if I could fit, it’s unclear if my skin would tolerate it. Yes, I am now “allergic” to many of my clothes.

On my first post-diagnosis Rare Disease Day, this is what it means to me to be one of the rarities:

I am a guinea pig. It is scary, isolating and frustrating.

I am a research participant in pioneer studies that are underfunded, primarily with philanthropy.

I don’t have adequate medical care. It’s typical to wait three to six months to see a doctor who understands my disease. And money always is a factor.

keeya steel

I carry emergency protocol with me at all times because most emergency rooms are unfamiliar with my disease and how to treat the life-threatening reactions it causes.

I am one of the lucky ones. I have a diagnosis. I am fortunate to have ping-ponged my way to a world-renowned specialist after decades of suffering. My diagnosis unlocked years of validation.

Today is hard and tomorrow will be hard. Every day, I try to adjust to this purgatory, as I wait for better understanding of the disease and treatments.

However, I have hope that someday it will get a little easier. In the meantime, I am thankful for the support I receive at home and through the rare disease community.

Follow this journey on Hell’s Bells and Mast Cells.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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