24 Things People With Rare Diseases Wish Others Understood

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Right now an estimated 30 million Americans live with a rare disease. In the U.S., nearly 7,000 diseases are considered rare, and for most, no cure exists and few (if any) effective treatments are available, according to the National Organization of Rare Disorders (NORD).

From the exhaustion of a diagnosis journey to the feeling of being alone, those with rare diagnoses and their families face a lot of unique challenges that may be difficult for others to understand.

The Mighty teamed up with NORD to ask their Facebook community what they wish others understood about their experiences. Here’s what they had to say:

1. “I’d be more than happy to educate you if you ask about [my condition] rather than question its existence.” —Katie DeMore

2. “Most doctors have never heard or seen a patient with the disease.” —Nancy Reeder Martin

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3. “Smiling doesn’t mean I’m suddenly healed. It just means I’m choosing to stay as positive through the pain as possible. —Evan Mundine

4. “Do not give advice to people with rare diseases. I know more about my disease than my own doctor does so please think before attempting to give advice.” —Brittney Peebles

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5. “People who hear you have a condition should never say, ‘Well at least it’s not cancer.’” —Cheryl Olenczak

6. “They are only ‘rare’ until they happen to you or a loved one.” —Bob Longhorn-Longhorn

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7. “Just because what you’re experiencing doesn’t fit into an easily diagnosable box doesn’t mean you should be easily dismissed and overlooked.” —Megan Wirts

8. “Fundraising is a big deal because government funding is scarce or nonexistent.” —Rebecca Brewster

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9. “I wish people wouldn’t say , ‘Ahhh, I hope you feel better soon’ like it’s the flu! —Lauri Morris

10. “Nothing about rare diseases is simple — not the diagnosis, not the daily care, not the long term. If you really want to know about my child, it’s not a one sentence answer.” —Elizabeth Grehl Breden

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11. “Physicians need to understand that we likely know more about our disease than they do. They need to actually listen to us! Be compassionate and understanding.” —Renee Walchak L’Ecuyer

12. “It feels incredibly isolating to want to help your child and not be able to because even the doctors don’t know what’s wrong. To not have someone who understands because there is nobody like your child. To not be able to have a treatment plan because there is no diagnosis.” —Susie Stretton

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13. “People can just be a good friend and listen and be there for you; they don’t have to try to relate by saying they know someone who has the same thing. Hence the word ‘rare.’” —Jill Ritchey

14. “Sometimes you have a name that everyone knows (i.e. epilepsy), but a rare presentation of it (i.e. Lennox Gastaut syndrome) that means you don’t qualify for studies and the meds don’t work. It’s a terribly isolating and frustrating place to be in medically, and the generic name doesn’t give the correct picture to the public.” —Kelly Shaughnessy Morris

15. “‘One in a million’ means it’s possible. And those ‘ones’ need to count.” —Hailey Remigio

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16. “You may never really get a full diagnosis and/or prognosis.” —Jessica Taylor

17. “I wish people who can’t see your illness wouldn’t judge.” —Dawn Dawneedoo Frascati

18. “It can’t be fixed by a simple visit to the doctor. There isn’t a drug or something that can be given to cure it. It’s always there and without research it always will be.” —Sylvia Marsden

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19. “To be able to talk to and meet fellow patients and have a conversation about our disorder without having to try to explain what it is is extremely valuable.” —Neil Smith

20. “Some of your coworkers, neighbors and friends who appear to be living ‘normal’ productive lives are also living with rare disorders. I bet most people know (often without realizing it) at least one person who lives with a rare disorder.” —Lisa McClellan Lucius

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21. “We enjoy the confused look on [your] faces when we tell [you] the name of our illness/es! ‘Neuromye-what?!’ —Helen Lear

22. “Just because a doctor/pediatrician/ER staff hasn’t heard of a disorder doesn’t mean it doesn’t exist.” —Brittany Lazechko Alley

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23. “Our caregivers go through so many sacrifices caring for us! It’s a thankless job and I know I don’t always say ‘thank you,’ but I would not be where I am without them! —Mary Lou Briggs

24. “You will do and learn things you never thought possible. ‘Hope’ means so much more since sometimes that is all you have.” —Nicole Vallier

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*Some responses have been edited and shortened for brevity.

For more information on rare diseases, be sure to visit NORD’s website and Facebook page.

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What I Want My Loved Ones to Imagine About My Life as a Special Needs Mom

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My journey as a special needs parent has been a huge learning experience, from finding this whole other world I knew nothing about to learning so much more about myself and how I handle difficult times. I’ve also realized that I can’t always articulate how I really feel or how things are for my family.

This piece is an open invitation into my heart, my head and my soul. To my friends and family, I hope this gives you a better understanding of my challenges, my reality and my life.

Imagine becoming pregnant without trying, and it being the worst possible timing but the best possible news.

Imagine bonding with that tiny person in your belly. Feeling it move and kick and excitedly planning its arrival. Finding out it’s going to be a she. A baby sister for your first born.

Imagine the day she’s born and feeling on top of the world. Then the next day being told matter-of-factly she has a heart murmur. And she has “funny” ears and a “funny” chin and her chromosomes might not be how they should. You agree to a blood test, and the results take several weeks.

Linsey holding her daughter

Imagine at 2 days old your baby is taken to another hospital for a heart echo. You watch her leave without you in a huge incubator and a private nurse. You wait anxiously for several hours until you’re reunited again. The results are repeated back second hand via a different doctor.

Imagine being discharged and leaving the hospital with a big fat question mark over your baby’s head.

Imagine sleepless nights at home and searching syndromes on Google night after night, trying to find something but hoping for nothing.

Imagine getting a call from the hospital four weeks later and knowing the genetic results would be there.

Imagine at the appointment being told her results weren’t normal and were was so incredibly rare even the pediatrician had to read up on it.

Imagine being told your baby may lead a normal life or may not. Coming home from the appointment you feel disconnected from your baby. Numb. Shocked. Sad.

Imagine those precious first months with your newborn. Instead of funny poo tales and cluster feeding nightmares, the months pass in a flurry of hospital tests and appointments. You’re counting down the months and wishing them away in place of answers.

Imagine living in a bubble of confusion. Of learning medical terminology and becoming an expert at mastering an “I’m OK” mask.

Imagine leaving with more questions than answers at appointments as time goes. You live your days in a kind of limbo. Over time the professionals involved with your child increase. And so does your diary.

Imagine the worry. It’s there in the pit of your stomach, lying dormant until they cough, choke and go blue. Until they vomit up after every meal for weeks. Until they lose weight or don’t gain enough. Until they develop strange behaviors or symptoms. Until there’s talk of future surgeries, tube feeding issues or worries about infection. Or until the next review, appointment or results. You never fully relax.

Imagine watching your child slow down in progress despite everything you’re doing. Some days you just want to give up, because it’s frustrating to live through day after day.

Imagine the mixture of joy and sadness as you watch your child’s friends move on and progress, while your child remains the same.

Imagine more and more equipment coming into your home, as it becomes ever clearer your child needs more support and more care.

Imagine there’s a night out planned or the chance for coffee, but your mindset isn’t there. You just can’t shake off your last appointment so you don’t go. You feel yourself withdraw in order to refuel. And leaving your child takes careful planning, so it isn’t always doable. Or maybe it just slips your mind. You have so many things to remember, to organize, to order. A social life is the first thing forgotten.

Imagine wanting so desperately to talk about it. To be honest about how things are so others might understand. But you can’t. You don’t know where to begin some days. It’s just too overwhelming for others.

the author's daughter

Imagine when you go to bed at night on top of the usual worries. You’re kept awake by questions that can’t be answered. Will she walk? Will she climb? Will she say mommy? And when those questions don’t plague you, others do. Awful ones that you couldn’t ever repeat.

Imagine trying not to think too far into your child’s future. Most are desperate to keep their children young, but you’re wishing for yours to develop into a big girl.

Imagine you don’t feel like you quite fit anywhere.

But…

Imagine you were given a gift. The most perfect, wonderful and life-changing gift you could ever be given.

Imagine how grateful you would be despite all the hurdles and all the worrying times.

Imagine knowing, despite each and every struggle, your baby gives so much more back.

Imagine how brave she is. How she keeps fighting on despite so many odds being against her. Just to smile and to laugh.

Imagine that such a small body of a person can give you so much strength. It’s enough to carry on day after day.

Imagine you realize how lucky you really are.

Follow this journey at Dream Big for Dixie and the Dream Big for Dixie Facebook page.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, 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 Share Your Story page for more about our submission guidelines.

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Mom’s Photo Project Proves Kids With Rare Conditions Are Still Kids

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One special needs mom wants to remind the world that kids with rare conditions are first and foremost kids.

Photographer and mother Ceridwen Hughes, from Denbighshire, Wales, has a son with Moebius syndrome. Issac, 8, was born with the rare condition but did not receive a diagnosis until he was 8 months old.

Because Moebius syndrome comes with some physical characteristics, Hughes has seen firsthand how people make assumptions about her son’s abilities based on his outward appearance. Frustration with this led her to set up a community organization for people with rare conditions called “Same but Different.”

“[People] are often expecting [Issac] to have learning difficulties simply because he has facial paralysis,” Hughes told The Mighty in an email. “If people took the time to see the person behind the condition they would see what a funny, happy, determined little boy he is.”

Hughes decided to use her photography to help spread awareness and acceptance about rare conditions. She photographs a person and then supplies text telling their story. She includes what they like to do, who they are and how their condition affects them. The series is called “The Rare Project.”

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Heidi enjoys going to the cinema and eating out. She has Ehlers-Danlos syndrome.

“People often feel nervous or unsure about approaching people who look or act differently,” Hughes told The Mighty. “I wanted to find a way to bridge this gap and encourage people to find out more.”

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Natalia has partial trisomy 13, called Patau syndrome, and she loves music.

“I think the most important thing is that this project was inspired by my son, but it is not about him,” Hughes said. “It’s about anyone with a rare disease and the need to highlight the person behind the condition whilst using the arts to make it easier for people to find out more.”

See more photos from “The Rare Project” below: 

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Isobel and Abigail are twins and they both have Down syndrome. They are full of life and happiness and often get stopped by strangers who want to compliment them.
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Isabel was diagnosed with encephalitis at 13 months and chocolate milkshakes are one of her favorite things.
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Iwan is great at jigsaw puzzles and has Dravet syndrome.
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April has Hurlers syndrome and loves mud and puddles and paint and anything where she can make a mess.
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Tomos loves playing Fifa with his oldest brother. He has spina bifida myelomeningocele.

“The beautiful photographs remind us how precious life is and help raise awareness about children who are living rare diseases so that we remain compassionate and committed to their care,” Kym Kilbourne, Vice President of Patient Advocacy at Global Genes, a leading global rare disease advocacy organization, told The Mighty via email. “Story telling through these images leads to greater understanding of the children in the rare [disease] community, and we hope inspires greater progress toward treatments and cures worldwide.”

Visit the Same But Different website for more on the photo project.

 

 

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The Superhero ‘Cape’ You Wear as the Parent of a Critically Ill Child

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Recently, I found myself staring at a black and white photo on Facebook. I had never met the people in the photo in person, but I knew them. I knew their story. I knew how much strength was in them. Even though most people would never have to know that strength, I also would never want them to. And then, it came to me…

A real superhero’s cape is not just the one that attaches to some muscular man’s neck and flows in the wind. A real superhero’s cape looks more like this:

It’s probably yellow. Or maybe blue. (I think we had a blue one once.)

It’s definitely made of paper.

It almost always comes with a mesh hat to hold Mom or Dad’s hair in place.

No matter how many times you put it on, it feels like it weighs 50 pounds.

Once you put it on, you know there’s no turning back.

And, even though it holds so much value, once you no longer need it, you just toss it in the trash.

The superhero’s cape is the disposable surgical gown parents of critically ill children wear each day. It hides how scared you are when you watch them wheel your child away, but it doesn’t protect you from the reality of living with a sick child. Every time I see a mother or father in their cape, I think about how strong they are inside. They’re holding back every fear and emotion they have, while simultaneously holding on to every beautiful dream they have for their son or daughter’s future.

When the hospital staff sends our son behind closed doors, and our capes can finally come off, I always feel lighter. The feeling of suffocation ends, and it’s as if I’ve been given a jolt of super powers. These powers keep me from fearing the worst and give me an unending optimism that everything will be better when my sweet boy has been returned to me.

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I have to say I hate that cape/disposable gown. It’s bittersweet really, because some of the worst moments of my life have been while wearing it. However, the minute I put in on, I always know we are joining together to fight the forces of diseases. The cape lets them know who they are fighting against.

Super parents come in so many shapes, sizes and backgrounds and so many don’t have critically ill children. But today I’m talking about the ones who do. The ones I saw in the picture. I do wish I could share the picture I saw that day, but I want to be respectful of the family in it. However, I thought the picture I included with this story was most appropriate.

The Super Dad in our family going in for those disposable scrubs.

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5 Tips for Medical Professionals Caring for My Children With Rare Illnesses

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Doctors are taught, “When you hear the sound of hooves, think horses, not zebras.” In medicine, the term “zebra” is used in reference to a rare disease or condition. Doctors are taught to assume the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses. Doctors learn to expect common conditions. But it seems some medical professionals can forget that “zebras” do exist, and so getting a diagnosis and treatment can be more difficult for people with rare conditions.

Ehlers-Danlos syndrome (EDS) is considered a rare condition, and so EDS sufferers are known as medical zebras. This identity has now been adopted across the world through social media to help bring our community together. Charcot-Marie-Tooth disease (CMT) and postural orthostatic tachycardia syndrome (POTS) are also on the list of rare diseases. 

With all three rare diseases in my family, we like to think of ourselves as a weird cross species of the zebra: a “zonkey,” which is a zebra crossed with a donkey and even rarer than a zebra. Or a “wonkey donkey” as my children call it.

I did an informal poll of EDS and CMT communities on social media and asked them what would be the one thing they would say if they had the opportunity talk to a group of medical professionals. As I read the responses, I realized all the issues people raised also had relevance to my life and my children.

So with input from communities on social media, here are the five things I want medical professionals to know when they are dealing with my zebras (in reverse order):

5. We are already “rare,” but don’t discount us from having another rare condition.

This came from the community, and it’s so true. We have three rare conditions in our family alone. Don’t discount the fact there could be other things going on.

My CMT diagnosis took 26 years. I always had symptoms to some extent. My feet even shrunk two and a half sizes due to the neuropathy in my teens. After I was diagnosed with CMT, no one bothered testing me for another illness even though my other symptoms were obviously not related to CMT at all. My doctors would say, “Oh, that must be your CMT.”

I was eventually diagnosed with EDS diagnosis, too, after I was hospitalized and was unable to walk. I have also been told I have autonomic dysfunction, but an official diagnosis with testing is still a work in progress. Just because we may not have managed to get a name for some of our symptoms, it doesn’t take away the fact that we live with those symptoms daily.

4. The pain is real.

Don’t judge what you can’t see. It’s even more important to appreciate this when dealing with children since describing pain can be tricky for them. It can even be hard for adults.

My 4-year-old daughter describes her pain as “normal hurt” or “other hurt,” which means she is accepting a level of pain as normal. She often discounts this when answering questions about her pain either to me or medical professionals. Just because they’re not moaning and groaning all the time doesn’t mean the pain isn’t there. It means they have learned to be happy despite the pain they live with every day.

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3. Don’t assume something isn’t there because you can’t see it or prove it.

EDS doesn’t show up x-rays or scans. Before I was diagnosed with EDS, I had a lot of pain in my hands. The pain would flare up for a week, making it impossible to carry out simple tasks like holding a bottle to feed my baby or wash my hair.

They found nothing on MRIs, x-rays and no inflammatory markers in blood tests. In the end, I just got on with it. It took another four years to receive an EDS diagnosis to explain the chronic pain I had been living with. This has been a common theme for me all of my life.

Be careful with what you say, and please don’t ever accuse or even hint that a child is making it up or doing something to cause the symptoms he or she is experiencing. Your words can be damaging.

2. Communicate.

Communication is key. It’s really important that everyone involved in our children’s care communicates with each other. Therapists, doctors and school officials all need to communicate with each other and to parents. I know this is tricky. I understand people are busy and may think there aren’t possibly enough hours in the day for this. But please try your best to communicate because it makes such a difference for our children.

Also, communicate effectively with the child. Take the time to talk to them and explain things to them on their level.

1. Listen.

Listening was the top issue flagged by the EDS and CMT communities. We wait a long time for appointments and don’t have the time or energy to repeat it to another doctor. So please listen to what the patient wants to gain from an appointment.

Please don’t assume you’ll know the answer to a question you have heard before. We’re all different and will have different experiences even within the same conditions.

Our most recent appointment was with a pediatrician. She listened to us, she spoke to our son and he left the appointment feeling happy since he had a better understanding of his symptoms. We made a plan together to make things better. It makes us partners in our children’s care. With them at the center.

I often think about how my life would have been different if I had been diagnosed at an earlier age. Schooling, pain management and my career choices would have all improved. That’s what drives me to make it different for my children. So if parents and medical professionals can work together to make this better for the next generation, then it’s a job well done.

Follow this journey at My Stripy Life.

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The Things I’m Sorry and Not Sorry About Regarding My Daughter’s Genetic Disorder

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A dear close friend of mine is having a “surprise” baby at 43 years old. Her husband said to me what most expectant parents say, “Well, just as long as it’s healthy.” And I’m pretty sure I said the same thing when I was pregnant with my first daughter.

But it’s just not true.

You will absolutely love your baby no matter how healthy or unhealthy they are.

In fact, you might just love them a tiny bit more when they’re unhealthy because you know they’re going to need more of your time, more of your protection and more of your love.

Parents who face a special needs diagnosis for their child experience a myriad of emotions. Grief, resentment and confusion usually top the list, along with questions of “Why her?” and “Why us?”

It’s taken me years of therapy and reading books like Harold Kushner’s “When Bad Things Happen to Good People” to finally come to realize that this randomness of my daughter’s genetic code is just that. Random. No need to search for reasons why she has a genetic disorder. No need to assign blame. Or find explanations. I’ve finally — seven years later — come to peace with it. It is what it is.

And most days I’m good with that. Most days I can stay calm enough to focus on the normal everyday things 7-year-olds deal with: homework and chores and reminders to please, please, please be kinder to her siblings.

But then there are other days. Days like today when I’m smacked in the face with the reality of her disorder and all the scariness that comes with it. Tactless world-renowned doctors who very matter-of-factly tell you your status quo is shifting. Your normal is no longer normal.

After that appointment, my mind was reeling with apologies because I couldn’t help feel sorry for her. Sorry for her reality. Sorry for what she has to go through. Sorry that she has “bad days.” I’m just so sorry.

To my daughter,

I’m sorry life didn’t deal you a “fair” hand.

I’m sorry the rare genetic disorder randomly “picked” you. You are the one in 90,000, baby.

I’m sorry your doctors talk about you like you’re not even in the room.

I’m sorry your extra-large print books aren’t in color. Colored pictures are more inspiring to look at.

I’m sorry when people — including me — label you.

I’m sorry your doctor begins procedures without giving either of us any warning that it might hurt.

I’m sorry when people underestimate your abilities.

I’m sorry when adults point out your differences. To your face. Greeter at Costco, I’m talking to you.

I’m sorry you have an 80 percent chance of passing on this random genetic mutation to your children.

I’m sorry you have to get checked for cancerous tumors every six months.

I’m sorry that because you have to wear a hat every day, every day you have hat hair.

I’m sorry you can’t find me in a restaurant unless I call out your name.

I’m sorry you can’t see 3D movies. They’re overrated anyways.

I’m sorry when a blast of sunshine pokes through the curtains and you gasp in pain from its brightness.

I’m sorry you can’t find your friends on the playground.

I’m sorry your siblings find the Easter eggs faster than you.

I’m sorry every time you fall because you didn’t see the step.

I’m sorry you have to strategically choose your seat so your back is always to the bright light.

I’m sorry your future is so uncertain.

But let me tell you what I’m not sorry for. I’m not sorry how strong this has made you. You have the strength and courage most adults don’t have.

I’m not sorry how determined you are to succeed and how you adapt and overcome obstacles.

I’m not sorry how empowered you have become to speak up for yourself when you can’t see something. You know how to ask for the things you need.

And I’m definitely not sorry that you have come into my world. Despite my unrealistic and naïve hopes when I was newly pregnant with you: “Just as long as it’s healthy.”

Nope. My wish should have been, “Just as long as she’s happy and fulfilled. Just as long as I can love her every day of my life. Just as long as she’s my daughter.”

Nicole Black the mighty.2-001

A version of this post originally appeared on The Wise Owl.

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