Rare Disease Advocate Megan Crowley Gets Private Meeting With Trump

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On Tuesday, Megan Crowley, a college sophomore with Pompe disease, will meet with President Donald Trump in a private meeting to discuss the needs of those living with rare diseases. The meeting, which happens to take place on February 28, Rare Disease Day, precedes Trump’s address to the joint session of Congress, to which Crowley will be attending as a guest of the President and First Lady.

“Megan and our family will meet privately in the Oval Office with the President to discuss the needs of people living with rare diseases, and especially advancing medicines for treatments and cures for ALL rare diseases,” Crowley’s father, John Crowley, wrote in a Facebook post announcing the meeting.

The Crowley family have been a part of the rare disease community for more than a decade. After Megan and her brother were diagnosed with Pompe disease, their father founded a bioengineering company with the hopes of treating the condition.

According to Stat, the Crowley patriarch still works in biopharmaceuticals and is being floated as a potential Republican candidate for New Jersey’s next U.S. Senate race.

Trump photo credit: Michael Vadon

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What It's Like Having a Child With a Rare Disease

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What does rare disease mean to you?

To me, rare disease means a mutated gene on my daughter’s chromosome 15. A gene that we all have but in her case, hers doesn’t work. It means very little answers followed by a whole lot of concern. It means a handful of wrong diagnosis until we found the main cause. It means speech therapy three times a week, it means chronic pain and delayed intellectual abilities. It’s fighting through life for things she needs at whatever the cost.

Rare means spending a lot more money on medical expenses than the average person. It’s about having a glimmer of hope that something might make a difference in your child’s life, because no one can say for sure either way.

Rare to me means spending a lot of time in the car driving miles to seek medical care, because not every city and state has a doctor that understands rare. Rare is a long list of symptoms that as a parent you wish you could just sum it all up with a proper diagnosis instead of a gene no one has heard about.

Rare is scary, it’s isolating. It’s getting up every day and wondering how will my child feel today. That magnitude of worry is consuming. With every breath I take I inhale and exhale her rare condition.

Rare is the dark circles under my eyes, it’s sleepless nights and the cause of my insomnia. Rare is the lack of funds in my bank account, it’s the silence in the air that at times I only hear. It’s the cause of my wrinkles and the reason for my constant state of brain fog.

Rare is what comes between my daughter and the world, it limits her. Rare has flipped my world upside down and forever changed me. It keeps me on my toes, it keeps me searching for answers.

Rare finds a way to be acknowledged even during the happiest of moments. Rare will keep your eyes posted to every genetic study being done in hopes that maybe, just maybe, today might be the day that someone can help take away her pain.

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Rare will put into perspective just how big this world really is and remind you that you really are one-of-a-kind. Rare is living with uncertainty, rare is trying to ignore that last scientific study that was done on your child’s mutated gene, the one that showed brain deterioration in mice. Rare is hope, it’s humbling, it will slow you in your tracks. It will change the way you look at the world and science and realize just how amazing it all is, but how far we still need to go. You will realize you knew nothing about the human body because if you did, then you would know that some genes cause devastating affects.

To me, rare is my beautiful daughter, it’s her sweet smile. It’s her determination to succeed. It’s her bravery, her generous personality. It’s her curiosity, it’s her contagious laugh, her big bright brown eyes which are the first things you see when she walks in a room.

Understanding my daughter’s rare condition is the hardest but best thing I’ve ever done.

Rare is everything that’s wrong in my life, but at the same time it’s everything that’s wonderful in my world.

Rare Disease Day is February 28, 2017.

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How the Men of Country Music Help Me Escape From My Rare Disease

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San Francisco’s cool air fills my car. As the sound of Eric Church’s voice brings smile to my face. The music starts bumping through my speakers. For a moment I’m lost in the lyrics. My feet don’t feel the fire, even though they are moving to the beats. For a moment I’m lost in the dance. I’m smiling, experiencing pure happiness and I want the world to see me shine. For a moment I’m lost in my bubble. Singing at the top of my lungs even though I’m not in my shower. I’m praying this moment won’t ever come to an end. The fire can’t touch me when I got my boys Eric, Luke, Zach, Garth, Cole, Dunn, Tim, Jason, Brooks, Sam and Alan consuming my heart.

I often turn to them multiple times throughout each day when I need to escape. They are always there to help stop the fire that burns through my world every day.

Luke is always there for me no matter what my mood is. Zach makes me want to get up and shake my ass. Eric always calms my nerves and brings me peace. Garth just knows how to make me want to have a good time. Brooks & Dunn, Alan and Tim take me back to a simpler time, right back to my childhood, riding shotgun with my daddy. Sam reminds me to just have a house party when I’m too weak to go out. When Cole and Jason sing, the words connect straight to my heart.

These men free me from the fire every day, even if I am only free for a moment. I am grateful for my country boys, and each of the moments they give me. The moments where I can forget that I’m sick, the moments where I’m just normal country girl dreaming of a great tushy (Yes Luke, I’m talking about you!), the moments where I’m back in that old Ford truck, and the moments where I can walk around in my country boots pain free.

Battling erthromelalgia (EM) is always easier when you have a crew behind you. When you find an escape from the fire, from the pain, from the tears. When you find something to put you to sleep after three days of being awake.

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Woman wearing a baseball hat, waiting for a concert to begin.

When you have this horrible rare disease, learning how to battle the fire that burns inside of you is the most important yet difficult thing. Trying to find an escape from all symptoms that come with EM, and the toll this disease continues to take on my body has become harder and harder for me. As the disease progresses, the symptoms only get worse, and I become more desperate to find any form of relief.

Wherever I go, I have my playlist in hand. I find comfort in knowing that I have videos of Luke Bryan performing live at his recent Mountain View concert. I have videos of Brooks & Dunn performing live at their last Bay Area concert.

The comfort I get from watching these videos and listening to my playlists of these amazingly talented artists are what get me through each day. There is not a day that passes by that I don’t have my country boys with me. They’re always there with me in my apartment, in my car, on the train, at my desk, on walks, bringing me comfort at the doctors, helping calm my nerves as another rush of nausea runs through me because in a matter of minutes the flare up has gone from two to seven on the pain scale, and the medication hasn’t even begun to kick in yet.

My country boys are some of my warriors in my battle against the fire of EM. They have no idea or insight into what they have given me. But I am forever grateful for them and the talent that share with the world. Today in this moment while writing this I have them by my side, cooling the fire and inspiring the words that I will share with the world.

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How I Became a Rare Disease Warrior

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It’s been one year since my rare disease diagnosis. The most common misconception is that I’m feeling better. People assume by now I’ve found an effective treatment.

The truth is the medical community is just learning about my diagnosis, let alone treatment. In fact, until last month, my medical chart did not include my disease’s diagnostic code, because it didn’t exist. The World Health Organization’s medical classification list didn’t include my disease until October 2016, leaving some doctors to question if the disease exists at all.

My body is still a scientific experiment. Every few months, I try a new medication. Usually, my body rejects it and I feel worse than before, but I keep trying in hopes of discovering one that works. As my specialist says, “It’s a marathon, not a sprint.”

No, my body is not better, but I am more resourceful. I personally think I deserve an honorary medical degree for the countless hours I have spent learning about biochemistry and reading research papers. Rare disease has forced me to problem solve alongside my doctors.

Despite what people want to hear, every day this year has been challenging. It is overwhelming to think of the challenges I will face. But when I reflect on my resilience over the past year, I am amazed.

I am rare and I am a warrior. One moment at a time.

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18 Things People Need to Learn on World Rare Disease Day

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Just because a disease is rare, doesn’t mean the issues facing it should be ignored — a lesson that is exemplified each year on World Rare Disease Day. This February 28, the people affected by more than 7,000 rare diseases will come together for a day of advocacy and education. Patients and their loved ones are invited to raise awareness of the 350 million people living with rare diseases and how politicians, researchers, communities and society at large can make a difference in their lives.

We partnered with Global Genes to find out what the rare disease community wants others to learn on World Rare Disease Day. These are the lessons that can help people understand why awareness of rare diseases is so crucial. And if you’re interested in getting involved in Rare Disease Day in your city, check out these ideas.

Here’s what the community told us:

1. “Genetic testing needs to be more accessible and less expensive. Sometimes it is the only way to get a diagnosis. Even if the diagnosis is difficult, it’s better than not knowing.”

2. “Research is crucial. Not only can it lead to treatments but it also helps raise awareness about each individual rare condition. This, in turn, can reduce the wait for a diagnosis and reduce the number of misdiagnoses people receive on their diagnostic odyssey. To me this looks like a win/win/win/win scenario.”

3. “The disease is rare but the human needs and dreams are common. Every patient has the right to live no matter how small the number is. The support for rare disease in many countries are little because the number is small, but when each disease comes together, it is not so rare.”

4. “Early diagnosis and early intervention are essential. There have been such incredible advances in genome sequencing, doctors need to think zebras when they are not sure what’s going on with a patient. My daughter was diagnosed and started treatment at 14 months, the average child waits years for diagnosis.”

5. “Invisible does not mean nonexistent, a good day does not mean cured and a long-term fight for a family requires reserves that can sometimes be misunderstood. We do the best we can and at the end of the day, we are are loving our children and trying to live our best lives possible, too.”

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6. “I know it’s natural to be curious, to stare, but please smile, say hello. They are people, too. They may not see, hear or know how to respond, but their caregiver, loved one or friend will help spread awareness, knowledge and kindness in return.”

7. “You may not fit the criteria of a rare disease but you can still have it. I had a disease when I was 2 that is rare but is more common in boys and Asian ethnicities. I don’t have any Asian background and I’m female but still had it. Don’t let misdiagnosis settle with you.”

8. “Even if we have a diagnosis, it doesn’t mean we have all the answers. Rare can mean there aren’t many (or there isn’t any) studies, information or treatments.”

9. “The act of listening seems simple enough, but many are never heard when sharing or explaining important information regarding their rare disease. It is a daily struggle to have someone partially understand or relate to how and why a rare disease can be difficult to live with. Especially when on the outward appearances you look normal, or people perceive you to being healthy.”

10. “We need more specialists and doctors to take interest in rare disorders.”

11. “You don’t have to completely understand in order to be supportive. People with rare diseases (like mine, Cushing’s) can often feel alone, isolated, afraid. The tests, procedures and treatment are so hard to go through. I want people to learn to do something. Show up for your friends and family. Seek to understand what they are going through. Offer to do things like drive to doctor appointments, make a meal, clean the kitchen. Isolation is so common with people with rare disease — when you find out someone is going through any part of the process know that they are fighting so hard — harder than you could probably ever imagine.”

12. “Doctors — don’t blow us off or tell us it’s ‘all in your head.’ I have a rare disease and probably know more about it than you learnt in medical school. Listen to us. We can teach you a thing or two.”

13. “If you’re interested in learning about the disease, please ask. Googling only scratches the surface and what you will find is so very pale in comparison to the reality.”

14. “I’m really not that different. I want many of the same things you do. I want to be included in group projects and discussions. I really am more like you than not.”

15. “Some people never get a diagnosis. That doesn’t mean we’re making up our illness; it just means we don’t know what is causing it.”

16. “Not every rare disease presents in textbook fashion. My rare disease looks nothing like what even generalized medical practitioners are familiar with seeing or hearing of from textbooks. That doesn’t mean I don’t have it or I’m doing really well with it and those statements completely invalidate the pain my disorder causes.”

17. “We were all — at one point — undiagnosed. Rare conditions are often harder to find and don’t necessarily show up in standard medical tests. Please don’t be so quick to suggest that our symptoms are somatic.”

18. “Being unique medically is hard. Every day there are a thousand adjustments to operate and achieve at the same level as everyone else.”

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Why Every Human Being Stands to Benefit From Rare Disease Research

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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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