“I had my kidney transplant in 1997,” I told the doctor.

“And what was the cause of the kidney disease?”

“It’s rare. It’s called Senior-Løken syndrome (SLS). Both my parents were carriers of the gene. The odds were one in four, and my younger brother and I both beat those odds, born the youngest of four.”

Not the sort of odds anyone would ever actually want to beat.

“I’ve never heard of that one,” she willingly admitted. Not all doctors are quite so willing to admit that they don’t know/have never heard of a medical condition before.

Here I was, at another medical appointment, giving my history to the doctor. She had never met me and knew nothing about me. How much time did she have?

I was not surprised when she said SLS was unfamiliar to her. This is a common reaction from doctors who are supposed to know about medical conditions. But the syndrome that was the root cause of everything that has happened to my brother and me is not something taught in medical school.

So how can I be at all upset that doctors have never heard of it? How can I have an attitude about it, especially when there are thousands of rare diseases, just like mine, that are fighting for recognition, too?

It’s like my name, which people never get the spelling right on. I could be Carrie, or Keri, but instead I am Kerry. People never guess that last one, but can I blame them?

I am not offended when people say a certain thing to me about my condition. I am just happy if they ask at all, if they know to ask in the first place. I was a teenager when my younger brother and I were diagnosed, by a team of geneticists, with SLS. We had both been blind since birth, but once I turned 12 and the kidney failure was discovered, treated and added to the list of conditions, the syndrome was confirmed.

As a 16-year-old, I was depressed and in chronic pain after two spinal surgeries for the third condition added: scoliosis. I was afraid I wouldn’t make it to adulthood. I didn’t at all expect I would live a full, long life like everyone else, like my parents, two older siblings and friends. Sure, this was likely an over-reaction, but aren’t teenagers often over-dramatic? It was a phase and I grew up, but the fear and the uncertainty linger to this day.

I am now in my 30s and I still wonder what my future holds. If a syndrome is so rare, as rare as SLS is, how does anyone truly know what else might happen? Of course, as I am now older, I tell myself that that’s life and there are no guarantees for any of us. This soothes me somewhat, but a question mark still hangs over me and my brother. How much time do we have? What quality of life will we be lucky to have, and for how long yet?

He has his issues and so do I, really. A lot of these seem neurological in nature but aren’t bad enough to warrant immediate attention most of the time. They are things that are chronic. They go on and on. Sometimes you’re left to feel like a hypochondriac. You don’t wish to continually talk these worries to death, because really, what’s the point? I go back and forth. One day I want to hide out and remain in my little bubble, convincing myself I am like everyone else, and the next I want to scream out loud, in fear of never knowing, never even being heard.

There are, as I say, so many other people dealing with conditions and syndromes everywhere. A day like Rare Disease Day, held on February 29, is a day to talk about it. It’s not the time to be silent and to be content to live, faded, in the background, as I so often feel I am living the rest of the year. So I want to talk about my rare disease, the syndrome that affects not only myself, but my amazing younger brother too, because I worry about him, often more than I do myself. Will he live a happy and healthy life here on out? Or is he destined to face unexpected, uncommon and hidden monster medical conditions in the years to come?

And so, how can more awareness happen? I can write. That I can do. The question is, is anyone there to hear these words? I hope someone, somewhere can hear me. I am the only one I can control, and I can speak up, for myself and for my brother too. I can speak up for so many out there living with conditions and diseases most people never would hear of otherwise.

So, on February 29, Rare Disease Day 2016, take a moment to read up and learn about a rare disease someone, somewhere is living with right now, because we, the ones living with these things, need to feel like we’re being acknowledged. We live with so much uncertainty every day, and all we ask is that the conversation does not fade away completely. We need to carry the torch of awareness.

Thank you for listening.

Sincerely,

One woman living with a rare disease

brother and sister with their phones to their ears side by side

The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. 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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People with rare diseases already face a lot of unique challenges — so fielding daily questions from complete strangers can be especially exhausting. We know curious passersby (and even loved ones) often mean well, but we wanted to sort out a few questions that may be better left unasked.

The Mighty teamed up with Global Genes, a disease patient advocacy non-profit organization, to ask people affected by rare disease what they’re tired of hearing from strangers.

Here’s what they had to say:

1. “Can it be outgrown?”

“My son has osteogenesis imperfecta (a.k.a. brittle bones disease). People ask, ‘Will he grow out of it when he’s older?’ all the time. My reply is always, ‘No, but hopefully they will find a cure someday. He’s a happy boy in spite of it.’ What I hate most is the sadness and pity on their faces and in their replies. Sure, it sucks, but my son is happy, and we have a wonderful life.” — Crystal Leigh Knippa

2. “Think positive thoughts.”

“First of all, that makes me feel as though if I show my true emotions, I’m looked down on, and secondly, it feels like I have to fake how I’m truly feeling. It also bothers me that people don’t understand the grieving that goes along with losing the life I once had and the dreams I once held… I’m tired of trying to explain to people who truly don’t get it.” — Cynthia Taberner

3. “Will I catch it from you?”

“They ask, ‘Is it contagious?’ as they back away from me. No, it’s not.” — Aimee Burnett Caldwell


4. “Did you do something to cause this?”

“‘So you must have drank a lot of alcohol to get autoimmune hepatitis (AIH).’ Uh, no. It’s my body attacking my liver.” — Aimee Burnett Caldwell

5. “There’s bound to be a cure; you just have to keep praying.”

“My son has an incurable rare disease which is life-limiting… I don’t think praying will fund research.” — Geraldine Renton

6. “I have that too.”

“I get tired when someone tries to ‘one up’ me. Just a few weeks ago, a woman tried to tell me how she knew exactly how I felt because she had the same exact diagnoses, but ’10 times worse.’ I smiled and politely informed her that my doctors would love to talk to her doctors since there are only three others in the U.S. with my same constellation of rare diseases. She was pretty quiet after that.” — Missie Crisp


7. “You use your illness as an excuse for your weight.”

“[They say this] without knowing anything about it or the medications I take.” — Cynthia Rhodes Alberson

8. “At least it’s not cancer.” 

“I’ve heard that one a lot.” — Cynthia Rhodes Alberson

9. “You don’t look sick.”

“Most people really do mean well but some of these comments and questions hurt to answer over and over again… Yes, lots of people don’t look sick. By the way, what does ‘sick’ look like? — Danielle Myers


If you or a loved one lives with a rare disease, what’s one thing you’re tired of hearing? What would you rather hear instead? Let us know in the comments below!


One child’s homework assignment puts into perspective her mother’s rare disease journey.

Tara Notrica, 51, from Merrick, New York, has a rare disorder called mast cell disease. Her 10-year journey with her condition has not been an easy one, especially because she’s had to work through many years of misdiagnosis and then balance treatment and recovery with caring for her two children.

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Courtesy of Tara Notrica

Her children, Notrica says, have witnessed a lot of her challenges. In June, a writing assignment her 11-year-old daughter Samantha did for her fifth grade class made Notrica realize just how much her disorder has shaped her children’s experiences.

Samantha’s end-of-the-year writing assignment was to write about something she is knowledgeable about. Samantha wrote about her mother’s illness and how she dislikes the stigma often associated with it.

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Courtesy of Tara Notrica

Her assignment read:

I feel strong about this topic because my mom is fighting a rare disease. Since [she’s] been dealing with it since I was 2, I have a lot of background knowledge. For example, with my mom’s health issue I had to learn how to dial 911 before I learned to dial my home phone number. I hear people talk and make fun of bald people a lot and to me it’s very hard to not get upset because I can just imagine how my mom feels. When my mom was at her sickest point she was 100 pounds on a feeding tube and getting close to dying.

Sometimes I see people backing away from the ill and just making jokes out of it but if you were in my place, you would want people to stand by you and be supportive. So what I am trying to explain is that people should [blank] people and not dislike them for what they look like. My mom might [blank] different, but she is just as amazing as anyone and as brave.

Notrica’s disease left her bald and ultimately reliant on a feeding tube for nutrients — at one point, she weighted only 100 pounds. It was a challenge for her to manage researching her condition, traveling the country in search of a proper diagnosis and raising her children.

“My kids witnessed all of that,” Notrica told The Mighty.  “My kids have seen so much and been such an integral part of my battle… When she came home with the writing piece, [I] just got flooded with emotions. I was really happy that she felt strong enough about it to share, but a little brokenhearted at the same time.”

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Courtesy of Tara Notrica

During the early years of Notrica’s diagnosis she had to be on a feeding tube for up to 12 hours a day. At this time, her children were young and had no way to get to their elementary school. Notrica’s home was just outside the district’s zone for school bus pickup, her husband had to work full time, and she was too ill to walk them the half-mile to school. This meant her family had to hire a private school bus for a while — an added expense on their serious financial strain from mounting medical bills.

Eventually she was able to convince the district to include her kids in the bus route, but it was an ordeal Notrica hopes other parents in a similar situation won’t have to go through. Since 2011 she’s been advocating for the passage of a school bus transportation bill that would ensure that.

The New York state bill would make it so children living within a designated area not zoned for school bus transportation who have an ill parent can be considered for school bus transportation.

“We aren’t the only families who have been through this and we feel this has to happen going forward for other children,” Notrica told The Mighty. “If the situation is extenuating, parents need some sort of tool so it won’t cost them hundreds of dollars every month to [send their kids to school] privately.”

Notrica is asking people to help her pressure the governor into signing the legislation into law. Go here for more information on the bill, or to sign the petition.


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.


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]themighty.com. 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.


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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