Photo of female scientists researching in laboratory.

All too often, disease research is conducted and treatments are developed solely because of the potential for profit. Common diseases are commonly researched as multiple pharmaceutical companies vie to find profitable treatments which will be purchased by hundreds of thousands of people. This model of disease research may well benefit treatments for common ailments such as asthma, cancer, and diabetes, but we are missing the greater goal in all this — the invaluable prize for the entire human race of learning exactly how our bodies work.

As far as we have come with modern medical research, the human race is still far from attaining complete understanding of how our bodies function on a cellular and molecular level. While we’ve identified around 20,000 different protein-encoding genes in the human genome we are barely scratching the surface of understanding the complex processes involved in protein expression, the function of each protein on a cellular level, and cell-to-cell communication.

Rare disease research shouldn’t matter only to those whose friends and family members who have rare diseases. It should matter to every human being, because this research offers critical insight into how our bodies function and has the potential to bring about prevention, treatments, and cures for innumerable common diseases.

Seventeenth century English physician William Harvey understood this, stating, “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows tracings of her workings apart from the beaten paths; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.” In other words, if we want to understand exactly how a certain protein or biological pathway works in our bodies, the first thing we should be studying is the disease or syndrome that occurs when that protein or pathway malfunctions.

Already, our limited research on rare diseases has led to invaluable understanding of many more common diseases including: pediatric cancers, heart disease, and Alzheimer’s disease. Study of rare diseases have also led to unique insights into the treatments of cancer, Ebola, diabetes, and migraines.

I have two daughters with the rare genetic disorder Bardet-Biedl syndrome (BBS), which affects approximately one in 160,000 people. Their genetic disorder causes obesity, cystic kidneys, liver fibrosis, endocrine disorders, blindness, autism, and difficulty with balance and coordination. The few researchers who have somehow found funding to learn more about this syndrome have discovered more than 20 different proteins which, if mutated, may cause this syndrome. These researchers realize that we know very little about how any of these proteins function within cells, but that a precise understanding of these proteins may hold keys to understanding biological pathways that underlie human diseases which are currently at epidemic levels in the world — diseases such as obesity and macular degeneration.

Yes, I desperately want to see funding for rare diseases increased by our governments, and you should, too. Every human being on this planet, and all of our descendants, stands to benefit from the invaluable understanding gained from research of rare diseases.

World Rare Disease Day is February 28, 2017. Please speak up for the funding of rare disease research. Please join my family in the fight to find a treatment for my daughters, a more complete understanding of how all of our bodies work, and potential treatments and cures for innumerable diseases and conditions that affect us all. We should all “care about rare.”

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Thinkstock photo by Point Images


We rare disease warriors know Rare Disease Day is our global opportunity to raise awareness about what it is to live rare, to fight for treatments, cures, and the funding of rare disease medical research. We know this day is intended to educate the general public in the hope that more people will become our allies and advocates. But what about rare disease patients who are too ill to type up their stories to tell us what they are forced to endure and how unfathomable their daily suffering proves, especially when they do not have family or close friends to help them advocate?

These severely rare patients are often alone, discarded by family and friends, and left out of advocacy efforts and organizations because they cannot physically write up and submit their battles to those who need to fight for them. They may not possess the finances and resources to establish their own advocacy networks or organizations. They may force any energy they have to crawl to the bathroom to attempt to bathe or to try to retrieve some food from a fridge, if their specialist appointments and trial meds have not already taken all of their money, and because their rare diseases have debilitated their bodies progressively, with no cure and no relief in sight. We all know what this rare fight is like, and so we all must stick together.

We need to remember and include the severe rare adult and literally orphaned children who do not have the privilege of constant support and social media exposure in our Rare Disease Day efforts. Now more than ever, with more and more medical benefits and assistance being eliminated for all rare disease patients especially, we need unity in the rare disease community. We all suffer tremendously. We all know how it feels to be forgotten, misunderstood, and abandoned because of cruelty and ignorance of government, of the world of medicine, of our own families, and of society at large. Let’s not inflict this anguish upon one another in the rare disease community. Let us stress the vitality of unity among all of us rare disease patients and advocates.

I speak from experience, and I write when my muscles will allow it in spite of blindingly painful constant seizure. I write because I know I am not the only rare neuromuscular disease patient in this situation. I write because we must educate everyone about all aspects of rare disease and how we must all fight for our lives. Many of us, like me, have to fight every day just to access and accomplish basic needs since we are denied assistance and, due to the atrocious expense of attempted rare disease treatments, cannot afford private home care or nursing, and many of us have been discarded by our families because we became ill and needed help.

I am so fortunate to have the unconditional support of my husband, but his demanding job frequently keeps him at work rather than at home. We do our maximum best to plan ahead and make everything easier for me alone at home despite the total debilitation of my body and my severely limited self-care abilities. I am so grateful I can type up this story today. I am so grateful I am a Rare Disease on The Mighty contributor. I am so grateful for this moment to be able to type up these words and assert a plea to the rare disease community: please continue to fight alongside all of us, all of us who are too often unable to access much needed resources, medical help, and social media spotlights.

Please resist the voices of division that breed an odd competition of who does and does not have it “worse.” Why compete about who deserves more attention because they may or may not be sick enough to deserve it based on assumptions from within our own community? We all live similar rare battles, so let’s maintain the courage to fight them together! In the gifts of our physical abilities to write, travel, photograph, and video ourselves for rare disease advocacy, let us remember the rare disease warriors who do not possess enough health, help, or resources to do the same. Please speak out for these patients who are us, too!

Many of us live with no “energy spoons” every single day due to our specific diseases and the complete lack of medical relief. We often, therefore, are left out of the conversation and are overlooked. We may live without the praise and admiration for our strength and superhuman endurance. We have invaluable perspectives and experiences we can contribute for the improvement of rare disease for all of us! In your online and other public forums of rare disease advocacy, please remember us and remember you are in a special position for all of us! Continue your work for and with all of us.

This is why I push and hurl myself well beyond my physical limits, no matter the physical price I pay, to fight alongside and for the rare disease adult and child warriors whose voices are not represented, whose diseases and tenacity are too often forgotten. It is not “to get published just for attention,” as I recently overheard a former “friend” say.

It is to seize the privilege to increase the chances for all rare disease patients, but particularly for those who cannot physically speak out themselves, a community to which I belong most of the time. We are all fighting for our lives, for the funding and necessity of life-saving rare disease research, for the dream of treatments and cures to manifest as realities. Let our community remain united for research, cures, and compassion on February 28, this Rare Disease Day, and on every single day! This unity ensures our communal and individual medical victories. We fight for every child and adult who must live with the told and untold agonies of rare diseases. We need the kindness and support of one another every day.

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When my daughter was first (mis)diagnosed with a rare disease in 2013, not only was I utterly devastated by the news that she had a progressive disease, but I was also shocked beyond reason by the realization that such a disease even existed in the first place.

That moment was reality-altering.

In fact, I remember very little from that day, except asking my husband over and over to repeat the name of the disease the doctor suspected. He would say it and I would forget it a second later. How did a disease so horrible exist in this world that nobody ever talked about? Why was the name so foreign that I couldn’t even remember it for more than a second? Shouldn’t everybody be alerted about this vicious disease? Why? How? Is this really happening?

Of course, I was in shock, and would later become very much acquainted with the disease threatening to kill my daughter. And a few years later, after whole exome sequencing, I would become familiar with another rare disease, a newly discovered one, so new in fact that it is simply referred to by its gene name.

The first time, though, in the most startling way, I awoke in a different world – a world where I began to question what else I didn’t know or may have overlooked in my 36 years of life. Outside I heard the familiar sounds of cars and birds, but for me, in the early morning light, I found myself living in a world much altered and unfamiliar. Even the colors I’d viewed my entire life were muted and different to my eye.

I’m fairly certain that a part of me is now gone with the news and shock of my child’s rare disease diagnosis; however, something else happened in that moment: An advocate was born.

Professionally, as a political appointee, I met many advocates and even organized advocacy training sessions. Selected advocates shared stories of best practices to replicate. The stories were inspiring and aspirational, and in many ways, there are teachable aspects of advocacy work. Regardless of the story or cause, one defining characteristic was common throughout: They never gave up.

Each year I would see the same faces in the halls of our state Capitol building – glimpses of weary faces at the end of a long legislative session. You could see the defeat in their eyes and the figurative scars of battle – hanging heads, slower steps, sometimes tears. But the next year, they would come back for another round, always hopeful this would be the year they succeeded.

Sometimes they did; mostly they did not.

I admired them and their dedication, although admittedly, I did not understand how they did it. Not until the day the advocate inside me was born. It was unplanned and shocking, but there was no stopping it even if I tried.

For starters, explaining to family and friends that my baby was dying of something they’d never heard of was my first role as a rare disease parent advocate. I found my voice as a writer to communicate my feelings and explain her disease. And when words fail me, I depend on my camera to tell a story that doesn’t always require words or sometimes can’t be expressed with them.

Much has changed for me since the day I discovered the world of rare disease. At this point on my journey, I have the benefit of hindsight and perspective, both of which are very useful tools in life. In the very beginning, after the shock wore off and I came to terms with my world turning upside down, I felt that I had an important role to play in educating people about rare diseases. Why? If I didn’t know they existed, then I figured others out there didn’t know about them either. And, beyond the basic starting point of awareness, from there the path leads to understanding, and from there, hopefully, to discovery.

Statistically, one in every 10 people will have a rare disease at some point during his or her life. As I sit and write this to you today, you or a family member may have a rare disease you’ve never heard of or has yet to be discovered. The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.”

Anyone who has an orphan disease, or in my case, has a child who has one, can understand the harsh poetry of that term.

Perhaps because I have been very open and vocal about my daughter’s rare disease, I feel as though much has changed in the last three years in terms of awareness. I have met so many amazing parent/patient advocates, born out of necessity, who’ve filled the ears of their friends, family, neighbors, communities, and legislatures with stories about rare diseases.

In the early days as an parent advocate, I was overwhelmed in every sense of the word – emotionally, physically, financially, spiritually — as I grappled with the day-to-day of my daughter’s disease. At times, the grief felt heavier than a human should endure, with a learning curve that seemed beyond my grasp and understanding.

I now recognize my own face amongst those advocates I once couldn’t fully comprehend. I have watched other rare disease advocates find their voices, walk the hallways of their own state (and national) Capitol building, and educate themselves beyond their training. On the flip side, I have met parents who don’t want to talk about it publicly for reasons of their own, which I can respect. Not everybody is an advocate and that’s okay. Advocates advocate for people who can’t or won’t do it for themselves.

For me, Rare Disease Day is every single day of the year. I tell everyone our story. I am not ashamed of my child’s disease, our mutations, her disability, our struggles, any of it. It is the life we have and there is much joy to be found in difficult circumstances. This is our one shot at life – life is not the same for all of us, but an end is inevitable for everyone. I choose to live in the light and enjoy the days as they are given to us.

My hope on this Rare Disease Day, February 28, 2017, is that if you are a person who is afraid to tell your story, or plan an event, or speak with a legislator, that you use this day to try something new. Maybe that means telling just one person your story. Whatever form, use this day to live in the light, share your story through your tears, educate your neighbor or community about something new to them, and above all, know that your voice matters. You never know when or how you can make a positive difference in somebody’s life.

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Thinkstock photo by boggy22

Parenting a kid with special needs requires a lot of writing. It seems like I’m constantly writing, which is OK because… well, I’m a writer. Sitting at my desk typing this blog post is far less stress-inducing than the painful daily scribble that comes along with a rare genetic disorder.

Early Intervention requests; reminders that doses changed because of a seizure yesterday; letters to the mayor about the ramp our building is stalling on; financial aid applications; thank-you notes to therapists; Christmas cards in February; invoices from the Tooth Fairy; camp registration and so on. By far the most difficult rare disease writing assignment is filling out new doctor registration forms.

That damn clipboard with the same old questions. Like so many diseases, these registration forms have a progressive course and deteriorate rapidly. Every epic page hurts even more.

Page One is harmless: Date of birth. Address. Phone number. Name of pediatrician. Emergency contact.

Page Two gets harder: Insurance. Siblings. Allergies. School… Thank God DOB was on page one because I’m already so stressed I can’t remember our daughter’s birthday – forget about her social security number.

Page Three makes me sweat profusely. The most difficult section: “Pain on a scale of one to 10.”

I hope it’s closer to a four today. I know it’s not a one. Two would be nice but she’s having tiny seizures and her eyes hurt. Last night she woke up in a spastic episode, so this morning her legs are cramped. She was vomiting so her chest is sore and she had a bad fall this morning… I don’t know, seven?

It’s excruciating to imagine our daughter’s pain. Luckily she’s way stronger than me. She’s a superhero. Like all superheroes, Susannah just smiles and waves at every passing baby. Sitting on the puffy, vinyl waiting room chair she looks like a movie star riding on a float in the Thanksgiving Day Parade.

Page Four: Infuriating. Two lines underneath the question “What brings you here today?” Then another two lines at the bottom for me to list “Other medical problems.” Two lines? If your kid has a rare disease associated with 50 different conditions, you need a card. A Rare Disease Card. I am armed with a KIF1A card everywhere I go. I am a card-carrying member of KIF1A.

kif1a card with superhero woman photo

These cards are amazing. I’m a happier person because of my card. Secretaries don’t hate me and ER visits don’t take five hours thanks to my shiny new card. First responders will save my kid’s life because that card explains the neuropathy making her insensitive to pain. A laminated card (written by somebody far more eloquent and informed than I am) explains everything one needs to know about a rare genetic mutation and what to do when something happens.

It takes 15 minutes for me to briefly explain Susannah’s rare disease. Usually I can’t get through the conversation without crying – which adds another five minutes to my incoherent rambling. It’s difficult to articulate her condition because the genetic anomaly stopping Susannah from walking is an elusive mystery without a name. Her condition is referred to as a KIF1A-related disorder caused by a mutation in her KIF1A gene. Susannah’s previously unreported genetic mutation is rarer than rare.

Thank God for my KIF1A card! I love my card so much that I carry five in my wallet, 12 in my bag and Susannah always has one in her pocket. Every family member, teacher, babysitter, friend – they all have Susannah’s Rare Disease Card. When I walk into a new doctor’s office and that secretary hands me a clipboard, I just clip my Rare Disease Card onto the form and hand it right back. New school or camp? No problem. My consent form isn’t an illegible novel – it’s a prewritten baseball card stapled to the front. In the middle of the night when her body is as stiff as a board and I’m carrying her into a crowded emergency room, that little card lets me massage her legs instead of filling out a form.

Thanks to my Rare Disease Card, Susannah won’t see the desperation in my face when I stumble through a foggy explanation of her neurodegenerative condition. Silly as it sounds, that ever-present fear goes away for one fleeting moment as I scoop her up, kiss her face and hand somebody that card. Thanks again, card.

Our incredible social worker is there for us every single day. She walked us through Medicaid and helped us get Susannah into school. She spent hours on the phone with insurance companies so we could take a breath and remember to sleep. When I have no idea what to do next (daily) she answers the call. She is our generous navigator and Susannah’s relentless advocate. And she gave us a KIF1A card. A card that protects Susannah from seeing how terrified I am whenever I talk about the disease with no name. When somebody asks what’s “wrong” with my daughter, I say, “Absolutely nothing, she’s a superhero” and hand them the card.

This blog was originally published on KIF1A: A Blog About Superheroes.

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Thinkstock photo by Vasiliy Koval

This is my daughter, Cambria. She’s 7 and lives with two rare chronic illnesses: panhypopituitarism and adrenal insufficiency. To manage her condition, Cambria receives a nightly injection that stabilizes her blood sugar, regulates her body’s internal systems, and keeps her alive and healthy. These shots will continue throughout her life.

To tweak her medication regimen, it has taken seven-plus years of trial and error, careful observation, repeated blood work, incredibly large sums of money (even with private insurance) and multiple trips to see the best specialists in America. Though her injection “sucks,” she understands her life is at stake if she doesn’t have it.

I don’t know about anyone else, but when I was 7, all I worried about was what flavor Flintstone Vitamin I’d wind up with at breakfast. At 7, my own mortality never even crossed my mind. Today my heart was broken when Cambria questioned her own upon learning Step Therapy would have an impact on her, too.

Last June, Kansas passed a Medicaid drug policy referred to as “fail forward” or Step Therapy. Despite aggressively campaigning against this initiative, many lawmakers supported and pushed for the passage of this Medicaid policy as a “cost saving measure.” (Some of these lawmakers were even present at our 2016 NORD Rare Disease Awareness event and saw firsthand the faces of those this policy would affect.)

In a move lawmakers thought would reduce the costs of KanCare, the state’s privatized Medicaid program, Step Therapy requires KanCare members to start patients on less expensive drug therapies before moving them to a more expensive, sometimes newer therapy. In short, you must fail on a less effective medication, have medical documentation of the symptoms, and endure unknown medical effects on two different Tier 2 medications before you qualify for a clinician to review your Tier 3 request. There is no guarantee, even with your physician’s letter and documentation, that a clinician behind a desk with limited knowledge or your case will approve that higher cost medication. This is unacceptable.

Today we received a letter from Blue Cross Blue Shield Kansas City, dated January 17, 2017. The letter stated that due to changes in our prescription drug list, a result of decisions made by a BCBS committee that meets quarterly, Cambria would no longer be eligible for her current medication under the Step Therapy Plan. All changes are effective March 1, 2017, and no patient will be grandfathered in on their current treatment.

If the BCBS committee meets quarterly, it’s a safe bet this “pricing decision” was made in 2016. In waiting approximately six weeks before a major policy change before informing affected patients by mail, BCBS has been incredibly irresponsible. If you’ve ever waited for a medical authorization, you understand the agony of waiting for a treatment for yourself or a loved one.

We first learned of Cambria’s condition when she had a “crash” at home – she was literally dying right in front of us. We rushed her to the hospital where a team of 10 miraculously stabilized her for transport to the local children’s hospital downtown. During her five-day stay, we were told to initially qualify for her life-saving injection, the insurance company required a failed stimulation test. A stim test consists of baseline blood draw, a hormone injection, and repeated blood draws at specific intervals to prove your body cannot sustain.

During the test, Cambria visibly declined, leaving me pleading with nurses to stop the test. For the second time in five days, she crashed and became unresponsive. Though we were in the hospital with qualified staff, they struggled to raise Cambria’s sugars, unsuccessfully trying several treatments before stabilizing her. Watching your daughter headed toward death twice in two days is difficult, but we thought the worst had passed.

We were wrong.

We waited six long months after her stim test for Cambria’s initial authorization in 2009. At discharge, doctors advised us to wake our 4-month-old daughter every 90 minutes to give her a bottle of apple juice laced with cornstarch to maintain her blood sugars. If we missed a single feeding, we risked waking up to a dead baby. If we were lucky, she might “only” experience brain damage or a coma. If not for a doctor who called our insurance company and demanded an approval during a follow-up appointment, I’m not sure how long we would have waited for an approval.

As a private patient advocate for individuals and a public advocate for the rare disease community, I frequently hear indifferent attitudes about Medicaid decisions from families who are blessed to enjoy privatized insurance options. The “it doesn’t affect me” attitude is rampant.

BCBSKC proved today that financially driven decisions made when lives are at stake are the worst decisions – and they affect us all. I believe the Kansas Step Policy is not only harmful, causing undue pain and hardship for patients, it is irresponsible and fiscally unsound. Since there are no timelines for failure, patients can be restricted to Tier 2 medications for unknown periods of time to satisfy a clinical requirement of which there is no public documentation. The costs of treating symptoms and conditions resulting from an inferior medication are likely much higher than providing Tier 3 access in the first place. Compounding this issue is the fact that two drugs must be failed on before returning to an initial Tier 3 prescription.

Why are we touting the success of additional NIH funding and research developments at KU when we are not utilizing newer medications that already exist? Why do we even bother putting any money into research at all when our lawmakers are determined to restrict access to treatment in the name of cost savings?

On March 6, I will be in Topeka to host NORD’s Rare Disease Day Expo for lawmakers, industry stakeholders, patients and non-profits. Kansas failed in all seven areas of the NORD report card – the only state with that distinction. It is time for all of us, regardless of our participation in state programs or private insurance, to band together and show lawmakers we are people with faces and families – not cost savings.

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Thinkstock photo by Nomadsoul1

This morning I received an email from a parent whose child was just diagnosed with a KIF1A mutation. The family has suffered through almost 10 years of misdiagnosis, agony and unnecessary (often painful) tests. These parents have been on a decade-long quest for an answer to their son’s degenerative disease.

Not once in 10 years did anybody suggest or prescribe a whole exome sequencing test — until last month. This brave family didn’t even know such a test existed. The test confirmed a mutation in KIF1A. *(Side note: If you aren’t familiar with WES, read my previous post for reference)* Their doctor didn’t know what a KIF1A mutation was and it took a neurologist three weeks to call and report the difficult news. Three weeks of not knowing what their son’s diagnosis meant and 10 years of not having a diagnosis at all.

We can learn a lot from this brave and awesome family. Over the last 10 years they have endured challenges that we now face. These incredible parents can tell us about treatments that helped, medications that worked and much, much more.

Our family is so lucky — for so many reasons. Susannah’s supportive medical team is at the top of our list. These people don’t rest until every family who might benefit from whole exome sequencing gets it. They give families incredible care and counseling filled with compassion and empathy. Our daughter is in the most capable of hands.

Imagine if everybody had access to whole exome sequencing… I believe hundreds of kids would be diagnosed with KIF1A, protocols would be in place, gene therapy would exist and cures would be discovered. We quickly have to identify every person with a KIF1A-related disorder. In doing so I believe we can aide in this discovery and help physicians reverse the implications of variants in the KIF1A gene.

Write to congressmen, senators and lawmakers. Call and tell them how vital increased funding is for clinical research — ask every doctor if they know of any mouse models or KIF1A breakthroughs.

Or just send an email to us. There’s a whole support system of people with kids who have KIF1A. Somebody will definitely give you a hug or a smile. So reach out; there are plenty of people just waiting to give you a high-five.

two young kids standing behind fence at baseball field
Luke’s daughter, Susannah, and son

Our superhero, Susannah, can do anything she wants to. If she decides to be a doctor when she grows up, that’s great. There’s no doubt she has the best role models a kid can have. Perhaps she’ll re-write the Hippocratic Oath, reminding all of society of the importance of whole exome sequencing in the fight to cure rare genetic disorders.

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