little girl smiling

As we approached Rare Disease Awareness Day, I thought back to when our 10-year-old daughter, Kelley, was finally diagnosed with an ultra-rare disease in 1973. There wasn’t a cure or treatment, and we couldn’t imagine ​a time when so many of us would be able to connect for a common purpose.

​We traveled a lonely road for many years before finding and joining a group with similar conditions in 1990. When attending a conference in 1996, we were disappointed no one had the same diagnosis as Kelley. Still, we hoped someday we would meet up with others, so we stayed with them, attending more conferences whenever we could. With receipt of each newsletter I searched the list of new members, looking for others with Kelley’s condition, and I contacted them. We really wanted to meet others who shared her diagnosis. At first correspondence was spotty, but when the internet became available, we were able to exchange email addresses. In an attempt to answer many of the questions that the newly diagnosed families had, I wrote a book about everything Kelley had been through at that time. “Kelley’s Journey: Facing a Rare Disease with Courage” was published in 2003.

Shortly after that, we were invited to join another organization with similar conditions, and in 2005 we attended a conference where, for the first time, the doctors and researchers actually talked about the fact that they were working on Kelley’s disease. It was wonderful to meet with others with the same and similar conditions, learning how much we had in common, even though there were variations in the ways our families were affected. We saw how much could be achieved when the families came together for a common cause of advancing research in their own and other conditions.

After ​​Kelley died at the age of 45 in 2009, I prepared to update my original book, only to realize that there was a much more comprehensive book waiting to be written. A dozen other mothers answered my many questions and shared their rare disease experiences for “Diagnosis: Rare Disease,” published in 2014.

At a 2015 Conference there were 175 attendees from nine countries, 30 of whom were professionals. It was gratifying to witness so much progress and hope for all families dealing with rare diseases. What a long way we have come, witnessing what can happen when all of us involved in the rare disease community work together, no matter what the name of the condition, to find ways to raise money and awareness of the needs of those who must cope with complicated conditions. Most caregivers are tired and fragile at times, but we’ve seen what can happen for the benefit of everyone when we remember no one is perfect. When working to make my own personal corrections, I remember once hearing, “Consider how hard it is to change yourself, and you’ll see what little chance you have of changing anyone else.”

With so many now working on rare diseases, we must maintain a strong partnership between the medical community and all rare disease groups, encouraging each other and overlooking our differences so that everyone may benefit. As one of the conference doctors said, “We’re all on the same road.”

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On Tuesday, in his joint address to Congress, Donald Trump highlighted Rare Disease Day. ”An incredible young woman is with us this evening who should serve as an inspiration to us all,” Trump said introducing Megan Crowley, a college sophomore with Pompe disease. “Today is Rare Disease Day, and joining us in the gallery is a rare disease survivor.”

Trump went on to tell Crowley’s story – her diagnosis at 15 months old and her father’s founding of a bioengineering firm that helped develop a treatment for the disease.

Prior to his speech, Trump met with Crowley and her father to discuss the needs of those living with rare diseases. “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, announced in a Facebook post Tuesday morning.

“Megan’s story is about the unbounded power of a father’s love for a daughter,” Trump said in his address, using Crowley’s story to touch on the approval process for orphan drugs. “But our slow and burdensome approval process at the Food and Drug Administration keeps too many advances, like the one that saved Megan’s life, from reaching those in need. If we slash the restraints, not just at the FDA but across our government, then we will be blessed with far more miracles like Megan.”

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

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.

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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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.

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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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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Thinkstock image by Sirius_clouds_fan

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