Sharon in front of her congressman's office

Why I'm Stepping Out of My Comfort Zone and Into My Congressman's Office for Rare Disease

Rare disease has changed my life in many ways, but the most unexpected recent change has been my interest in laws and political issues regarding health care and treatment options. You see, I am a right brainer. I enjoy and flourish in the arts. I’ve never jumped for joy while taking a math or science class. I can recall looking up medical terminology after diagnoses and subsequent MRI or test reports years ago, and how strange it was for me to learn about medicine. I was in a new arena and out of my comfort zone.

However, I realized that in order to advocate for my care, it was a necessary step, and I was finding it interesting! I was being forced to expand in ways I had never imagined. Being creative had always been my focus whether in study, or for fun. But more recently, as a patient and advocate, I’ve experienced another surprising shift in interests. Why, you ask?  Because for the past 6+ years, I’ve been relentlessly and urgently seeking treatments as a patient for Klippel-Feil syndrome, cervical dystonia, Ehlers-Danlos syndrome, and vasculitis – all rare diseases. Time and time again, I have found little understanding or relief. I’ve traveled to five states seeking care. Yes, there are a few great doctors out there. Great doctors who have limited time, limited accurate information, and limited treatment and medication options to offer me as a patient dealing with such an odd laundry list of rare conditions.

I’ve been at a personal stand-still regarding my care for well over a year. After putting down the paint brushes to focus on MRI reports and the like, I have come to a dead end regarding what might help the chronic, debilitating pain and muscle spasms that send a constant 911 signal throughout my body.

I know I am not alone in this.

Care options for those with rare conditions are extremely limited.

Complaining about it and doing nothing will get us nowhere. However, for myself and others in the rare disease community and beyond, there is something we can do to help ourselves!

You see, there is a bill, the 21st Century Cures Act H.R. 6,  that is critical for the improvement of care for Americans as a whole, but namely for rare disease patients who are desperately in need of this. In July 2015, the bill passed the House. This fall, when summer recess ends, we need the Senate to pass this bill for it to move forward. This bill needs to be implemented and we are running out of time!

I’ve been preparing to meet with my legislators personally, to urge them to help pass this bill now. Gulp. I’m completely out of my comfort zone!

The idea of walking into a government office makes me so nervous, but so does a future without proper health care for the conditions I face daily.

I’ve literally had to brush up on how a bill becomes a law, think “I’m Just a Bill” style! Just like I had with every unknown medical term on MRI reports, I’ve looked up some unknown government and political terms, to understand the process. After learning more about this bill, which includes the Open Act  and funding for the NIH and FDA, we can’t let this valuable path to cures pass us by. Dare I say, I am passionate about the importance of supporting this bill, right now!

The 21st Century Cures Act will expand treatment options for all of us, not just those who have a rare disease. I am asking you to please join myself and others. Send your senators and representatives an email. Hop on Twitter and tweet to Congress using hashtags like #CuresNow and #OPENact and #Path2Cures! Not sure who your federal representatives are? Click here.

Speak up, call, write, or set up a meeting, because it really is up to us, and we cannot afford to wait. There are even talking points to help. Start somewhere. Be bold. If we don’t tell Congress what we need and ask for their support, we can’t expect them to realize there is a need, much less do anything to change it.

Of the 7,000 rare diseases that affect 30 million Americans, only 5 percent of rare diseases have an FDA approved treatment. The 21st Century Cures Act has been developed to help us, but it needs our support now. If I can, you can! Not to mention, new treatment options would allow me to feel well enough to get back to other passions. Together we are powerful. Please join me.


Driving on an empty highway to the sun

Why the 21st Century Cures Act Offers Hope for Rare Disease Patients

The U.S. House Energy and Commerce Committee’s 21st Century Cures initiative is a bipartisan effort to help speed the development and delivery of new health care treatments and cures in America.

There is much to be excited about! Along with a welcome increase in funding for the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), the bill primarily focuses on efforts to increase strategic investments in medical research and change some aspects of how the FDA executes its regulatory oversight mission with regard to the review and approval of new drugs, biologics, and medical devices.

The 21st Century Cures Act may just be the answer to the 7,000 or more rare or ‘orphan’ diseases out there that represent a significant public health challenge. Needless to say, as a parent of two boys with Jansen’s metaphyseal chondrodysplasia, an “ultra” rare disease that affects roughly 22 people worldwide, I have been keenly tracking the progress of the bill as it moves through congress.

While the Orphan Drug Act of 1983 was successful in helping spur development of drugs for rare diseases, leading to 360 approved treatments for 200 conditions, there is still work to do, as there are roughly 6,800 rare diseases with no approved treatments.

Due to the low prevalence of individual rare diseases, the development of treatment tends to become tricky. Questions of economic viability and small patient populations affect research and development of new drugs. The small number of patients also reduces the quality of epidemiological evidence, so long-term projections on the safety and efficacy of these drugs is less reliable.

Rare disease challenges

Currently, legislation demands that potential therapies demonstrate safety and efficacy in the clinic in order to be approved by regulatory authorities. While these expectations are appropriate and realistic for the majority of common diseases, for drugs being investigated for the treatment of rare diseases, these requirements are either very challenging or implausible for technical, practical or ethical reasons.

Another challenge is relatively little is known about the pathophysiology or
the natural history of many rare diseases. There are usually only a small number of experienced clinical investigators worldwide, and usually very little scientific literature published. We were fortunate enough to find a researcher in Boston willing to work on a potential cure for Jansen’s  – a genetic mutation of a gene that encodes for a specific protein (PTH/PTHrP receptor).

Equally problematic is the small number of patients available for clinical studies. Enrollment of patients into clinical studies in sufficient numbers to generate meaningful comparative data is therefore a major challenge, usually requiring the participation of many sites across multiple geographies, frequently with very few patients enrolled at each site. This of course leads to more delays, more costs, and further uncertainty.

Why the 21st Century Cures Act is so important

The 21st Century Cures Act “accelerates the discovery, development, and delivery of life-saving and life improving therapies.” It transforms the quest for faster cures by not only removing barriers to collaborative research, which would allow data to be accessed in an easier manner, but also more importantly, incorporate the patent perspective into drug development and regulatory processes. As the single-most powerful advocate for our child, we – the parents – could now contribute personal experiences to modify and improve treatments.

The Cures Act would take into account the unique characteristics of rare diseases by utilizing drug development tools such as biomarkers (a characteristic that can be objectively measured and evaluated as an indicator of normal biological processes or pharmacological responses to a therapeutic intervention) to help with early assessment of a particular course of treatment.

Modernizing clinical trials is another exciting feature of the proposed bill. The legislation encourages new and creative adaptive trial designs and aims to utilize the most modern statistical and data tools, while keeping unnecessary paperwork at the minimum.


These are exciting times for medical innovation and advancement, and the 21st Century Cures Act promises much hope to those with rare diseases. However, not everyone is on board. The bill allows anecdotal and easily manipulated sources of health data to be used to approve new drugs. Utilizing a patient’s experience from clinical experience could sometimes be all it takes for a new drug to reach the market. The use of biomarkers, animal studies and inconclusive preliminary data to support approval, rather than proven health benefits, has unsettled many quarters of the health industry. Having the FDA “rely” on observational analyses, which are less rigorous than randomized controlled trials (RCTs), for approval of medical devices could compromise ethical safety standards.

The need for safer, cheaper, more effective, and faster treatment options for rare diseases is abundantly clear. Lack of new drugs highlights strategic failures in our system to encourage Research & Development to focus on neglected diseases—not merely failures in our regulatory system. The worry with the proposed bill is that new laws for the FDA may not necessarily accentuate cures, but rather tie them down in more bureaucracy and unsafe practices. More incentives and penalties for longer review times of potential drugs and devices could be a better way to speed up finding cures.

The FDA already has strategies in place to safeguard the patient when developing new drugs. The Office of Orphan Products Development (OOPD) within the FDA assists potential sponsors of orphan products by directing the programs like:

Orphan Drug Designation Program – qualifies a product for special
financial incentives.

Orphan Products Grant Program – provides funding for clinical

Pediatric Device Consortia (PDC) Grant Program – facilitates pediatric medical device development.

Humanitarian Use Device (HUD) Program – motivates businesses to develop medical devices for rare diseases and conditions.

Hopefully, with all the discussion generated by the 21st Century Cures Act, the FDA can dig deep, really look at where it is going wrong and transform itself into a more flexible and creative institution to introduce new ways to speed up lifesaving treatments for patients with rare diseases.

While the House overwhelmingly passed the 21st Century Cures Act, the Senate is yet to take up the bill. My hope is that in all the rhetoric that passes between the naysayers and the advocates, there is transparency on how to close the gap between the discovery and delivery of innovative treatments and products. While changes are appropriate and important, nothing should compromise patient safety.

Erin's son with a sign "I'm one year seizure free"

To Those Who Question Why We Chose Genetic Testing for Our Child

Erin's son smiling.
Erin’s son.

Right before Christmas last year, we finally got our diagnosis for Abram, UBE2A deficiency syndrome. Our path to get an answer seemed arduous, but when it finally arrived, I felt relief. Our genetic counselor told us we were the first case the University of Iowa and the University of Chicago had ever seen. We were told they had no further information to go by, aside from a case study on Online Mendalian Inheritance in Man (OMIM). We were told to “Google” our son’s gene mutation and there we would find the case study she was referencing online. It was then our genetic counselor informed us they would now be learning from our son.

Despite not knowing more and being unable to do more than what we were already doing, I was pleased to have a name to call our son’s condition. I am sharing our journey with genetics so the people who don’t have to face these issues personally, can hopefully understand the reasoning behind the need and drive for genetic testing. Parents in situations similar to ours are often believed to be wanting a “label” for their children or that one parent wants to “blame” the other for their “bad genetics.” Many people don’t understand why we would want our children to be “guinea pigs” or why we would want to agree to medical research programs. I think somewhere in their heads they flash to some terrible 1980’s sci-fi program where our children are caged while being “poked and prodded.” This is simply not so.

So, why do people want an “answer” with genetic testing? For our family, Abram had a complex set of what seemed to be never-ending diagnoses, with no discernible cause. Yet, all the while, our neurologist felt what he had going on was the cause of some other underlying condition. He was tested for Fragile X syndrome, Noonan syndrome, and William syndrome, and all came back normal. It wasn’t until his seizures worsened and the pharmaceutical drugs made him spiral into decline, that we pushed for further genetic testing, because there are types of epilepsy known not to react well to certain anti-epileptic drugs. If your child had devastating and life-threatening seizures or a rare set of circumstances, wouldn’t you want to know how to best help them be well?

Genetic testing has nothing to do with “wanting a label” or placing blame on one parent or the other – it is about doing what is best for your child now. It’s about knowing what prepare for in the future and paving the way for the families diagnosed after your child.

Plus, with any luck, it will allow you to connect with other families whose children deal with the same set of similar circumstances. However, it is important for parents of typical children to understand that when it comes to health care in our country, having a “label” is important for medical purposes.

For our son, his diagnoses and “labels” rightfully qualify him for waiver services and have enabled him to have access to various therapies like physical and occupational therapy, as well as speech, feeding assistance and so much more. For medically complex kids, “labels” help them not only with services and therapies, but they help them throughout their education and it guarantees their right to learn just like everyone else’s children. So yes, families want a “label,” but not for the reasons some people seem to think.

For our family, the “official” name of what to call the proverbial “it” that was affecting our son, changed our lives. I spent hours coding this very website so if any other parent googled UBE2A, they would find us. There were literally less than a dozen people in the world with this gene deficiency and even fewer known to have the same gene mutation as our son. Even more rare was the fact that Abram’s gene mutation was “de novo” meaning that his UBE2A gene spontaneously mutated. If we were to have more children, we would have less than a 1 percent chance at having another Abram. A less than 1 percent chance! How cool and special is that? The best things in life really do happen by chance and I wouldn’t change our lives one bit if we had it to live over.

What transpired after diagnosis has made my heart grow. Two months after coding this website, I was contacted by the medical researcher who had studied and written the very first case study on UBE2A. Seeing the name “Nascimento” in my inbox felt like I had been contacted by a rockstar. I was elated. We have become friends. She has been able to explain to me how this gene impacts him and how all his diagnoses are the symptoms of the UBE2A deficiency syndrome. She made me cry with joy when she said that by sharing our journey, we will one day be able to help other people and with hope, help them better understand UBE2A syndrome. Now, the very same Rafaella Nascimento, who researched this gene and gave us a name to call our son’s condition, gets to know Abram. She gets to share in our grief and our triumphs. We get to learn together. How lucky are we that we live in a world so connected by the Internet? What would have felt lonely, is now filled with more people who care.

Genetic testing gave us our answer. It isn’t the answer that people may imagine. In fact, it wasn’t the answer that we imagined. There isn’t a cure and very little is known about this condition. However, I have been extremely lucky in connecting with two other families whose boys share similar issues with the UBE2A gene. Our boys have similar features, health concerns and delays. Meeting these wonderful parents online and getting to see the faces of my son’s “brothers” is truly the best thing ever. I get to share our life journey with people who understand where we have been and what our struggles are.

Thanks to Rafaella who reached out to me all the way from Brazil, I am waiting to hear back from the family I first read about in the case study who share the same mutation. I’m just elated to find people who have a similar journey, whom I hope to meet in real life someday. All of this wonderful stuff is because we got our “label.” Sometimes “answers” don’t come in the way we think they will. Sometimes our “answers” are in the people we find on our journey to obtain them. 

Due to the fact that there is very little known about this syndrome, we have agreed to take part in medical research programs at three of our nation’s best hospitals. These world-renowned hospitals will be following Abram’s journey for at least the next seven years. They will note his multiple health concerns, diagnoses, symptoms and any other issue that may arise with this new and most likely under-diagnosed UBE2A deficiency syndrome. This means the fact that we use cannabis oil (CBD) to treat Abram’s seizures may play an important part in the future treatment in children with UBE2A who have seizures as well. Abram’s sensory processing disorder also drastically improved with the use of cannabis oil, and if that fact can give a family some hope, then we have done our part.

If everything Abram has gone through can help another family with this diagnosis, that is what matters the most. The world of special needs and medically complex children is another world entirely. Within it are people who are filled with love, hope and humility. People who want to celebrate with you, cry with you and cheer for your children every step of the way.

​So please, stop shaming parents who want an answer for their children’s medical complexities. Searching for an answer isn’t about labels or finding blame. It’s all about love and doing what is best for our little ones. Genetic testing is so much more about finding what is right than what is “wrong.”

Follow this journey on Our Abram Mayhem

Nicole's daughter

When I Hear These 3 Words as a Special Needs Parent

Nicole's daughter

Is it possible, for what kids with FoxG1 lack in terms of cognitive and physical ability, they make up for in cuteness and sweetness?

You might be reading this and thinking, how is there anything cute about a severe, rare, neurological condition that hinders the ability for children to do most things?

Well, let me tell you about my FoxG1 girl, Josie. She was born with this doozy of a genetic disorder. She is four-and-a-half-years old and cannot sit up unassisted. She can’t talk, nor can she take care of her most basic needs. Her brain just won’t tell the rest of her body what to do.

People often say to this, “I’m so sorry.”

And I admit, as a mother, I am sometimes sorry for her, too. She would love to do all the things four-year-old girls do. She’d love to run and play, and make videos (the app) with her brother. She sees what’s going on all around her. She wants in.

And sometimes, only sometimes, I’m sorry for us, too.

Of course there are times when her brother, father, and I all wish we could do things with her that she’s not able to do.

But, don’t be sorry for us.

Sorry, we’re not sorry.

For all that we don’t have, we have something else.

I always say “it’s just different.”

Josie and her brother.
Josie and her brother.

Josie wakes up with the biggest smile on her face. And she’s got that kind of smile that just grows and grows. You know when the sunset turns the sky all beautiful shades of pink and yellow and orange, and you think it can’t possibly get more beautiful… and then it does? That’s what Josie’s smile is like. And she smiles all day. And she laughs. It’s contagious. You simply cannot be unhappy around this little ray of light.

OK, well, she doesn’t smile while she is having a seizure or when she is tired. But most of the time, she is the happiest little girl in the world. And this is one common characteristic of most FoxG1 kids.

Watching the will this little girl has puts life into perspective. She doesn’t give up. She will try to move her little tushie forward to get to her toy all day long. Her will is tremendous, and it is my constant reminder that I should never give up either.

She’s also given us something beyond value; she gives us something to teach others. Life doesn’t always turn out the way we planned. Sometimes children aren’t born with all the abilities most others have. Some things are harder and some things are easier. When that ridiculously adorable face is smiling at me as she tries over and over to bring her hand to her toy, all I think is, this is just different and we are so lucky for our “different.”

We’re not sorry.

Follow this journey on Josie Devin

little girl in cool leggings

To the Stranger on the Plane Whose Kindness Extended Beyond the Flight

To the stranger on the Southwest airplane:

My 6-year-old was in the window seat, and I was in the middle. You were boarding a completely full (but almost brand new!) aircraft and asked if you could sit beside me – which, of course, who am I to deny such a request? You didn’t know my daughter had used a wheelchair in the airport, you didn’t know I was juggling two suitcases and three bags and pushing when her arms got tired, and you didn’t know this was her sixth trip to Michigan to see her neurosurgeon, and my eighth in total.  

We chatted throughout the duration of the flight. You weren’t annoyed by the conversation, and even complimented how well-behaved she was. She was coloring, and you asked who her favorite princess was. When her blue marker exploded, you went to the bathroom and got napkins. I think we even talked about LuLaRoe leggings – probably a term you had not heard until that flight. I didn’t get your name though; sometimes those stranger boundaries are a little awkward, especially as a mom traveling alone with her child.

krystle's daughter in the window seat of the plane

When we went to de-board, you were surprised I wasn’t rushing off. I told you I had to wait for them to get her wheelchair, so we were just going to hang out for a few minutes. We finally got off, got her chair and were rounding security to head to baggage claim when you caught up with us. This was probably 15 minutes later at least. You found us! (And no, not in a creepy way.) I’m sure the kid in the chair with crazy colored leggings was easy to spot, but still – we were in a different section of the airport.  

You said you wanted to help us get our baggage and get to the rental car shuttle, and I’m not going to lie – I wanted to jump up and down. I had somehow packed our large suitcase to weigh a whopping 45 pounds. I have no idea how that happened or that clothes could weigh that much. So I was already wondering how I was going to pull it off the conveyor belt.  

In a world where people typically only look out for themselves, it was a breath of fresh air for someone to genuinely want to help us get from point A to point B. You took the time to be helpful and kind, and I want to say thank you.

Young mother holding peacefully her beloved baby

What Happens When There's No Specialists for Your Child's Disease

When you have an undiagnosed child, fear of the unknown is your constant companion. You watch your child carefully, trying to tease out which of their little quirks are symptoms and which are not. Second guessing becomes a pastime.

Why is this happening to my child? 

Was it something I ate? 

Something he ate? 

Was it all the happy hours I went to after work before I knew I was pregnant?

The oral vaccine I chose over the injection?

Is my child going to die?

No one can prepare you for this existence. There is no short course on navigating an unidentified disease; no strategy for fighting an invisible foe. In a world where over-the-counter pregnancy tests and DNA paternity testing is the norm, a disease without a test is difficult for some people to comprehend. You therefore may be accused of not doing
enough to find out what is wrong. Doctors may lose interest after hundreds of tests turn up nothing.

It’s a lonely place to be.

You believe with all your heart that a diagnosis will bring closure and a possible treatment for your child’s illness. A diagnosis will open doors and give you access to the people and resources you need to provide the best possible outcome for your child.

And then one day the diagnosis comes and there is a sense of great relief: finally, you will be able to take your child to the specialists who can help. You can connect with the experts who know how to treat the disorder and tell you what the future holds for your child. The answers will be forthcoming and for the first time in years, there is hope.

But your child’s disease is rare, and before too long you realize there is no expert. No clinic, no research, no resources at all. The doctors you see rely on the same research journals you are reading, most of which contradict each other.

The only person who is going to research and understand your child’s disease is you. You will have to advocate even harder than before, educating doctors and pushing for treatments that don’t exist or are considered fringe. You will have to reach out and find other families with the disease and learn from them. The only difference between your world before diagnosis and the world after, is there is a name for the “evil beast.”

For 17 years I had a child with an undiagnosed disease — a disease so severe it was relentless in devouring my son. My formerly healthy child was disappearing in front of our eyes, and no one could tell us what was wrong or how to make it stop.

My son has an extremely rare genetic disease called riboflavin transporter deficiency type 2 (also referred to as Brown-Vialetto-Van Laere disease). There are fewer than 100 people worldwide identified with his condition. Because this disease was only identified in 2012, we have spent most of my son’s life looking for a diagnosis which didn’t exist. When we finally received a diagnosis in late 2014, we were handed a single research paper and told we could try the recommended therapy the researchers had proposed.

That was it. No doctor referral. No clinic. No research trials. Nothing. 

No one in the world was studying this disorder in any significant way, and any
doctor in the United States who had ever heard of the disease was going by the
same research paper we had been handed.

The same day we learned our son’s diagnosis, I got online and tracked down a small online forum that had been created by a few proactive parents. I started learning what treatments they were finding successful and what research they had come up with. And over the past 18 months that I have known the name of our son’s disease, I have not found a single physician who knows more about our son’s condition than I do.

Recently a friend asked where my son was being followed, now that we have a diagnosis. We live in a part of the country revered for its medical facilities, so the question seemed reasonable. Surely there must be several doctors following a case such as his. “No one is following him,” I managed, finding the words difficult to utter. It must have sounded like an admission of guilt because her face stiffened. “What I mean is, there is no one in the United States who knows much, if anything, about this disease. I have had to do my own research and learn everything about this disorder by myself. I am the one following him and developing a treatment plan. I’m the only one monitoring his progress. There is no one. Just me.”

The words stung as they left my lips, comprehending for the first time the weight of the situation. I was suddenly jealous of all the parents with children who had doctors they could call about their child’s disorder — the ones who had designated clinics and specialists at their disposal whenever they needed support. I envied those who could go to the library and find books about their child’s illness or get online and find people who had answers to the tough questions.

That same day my son’s report card arrived in the mail. He had received straight A’s for the year and had more or less aced all four years of high school. Yet it wasn’t always that way. There was a time when the school system didn’t want to accommodate his escalating disabilities. With no diagnosis and deteriorating health, who knew what he’d need tomorrow?

I recalled the years of battles with school administrators, making sure he was not denied the same opportunities as other children.

I thought about the doctors who closed doors in my face while I was still asking them questions about my sick little boy.

The years of, “I’m sorry, there is nothing more we can do for your son.” 

Yet there I sat, gazing at a perfect report card from the hardest working kid I’ve ever known. And all of a sudden, a revelation occurred: perhaps the lack of a specialist wasn’t a bad thing after all. In fact, maybe it was pretty wonderful. My son had exactly the right person for his disease following him: someone who had spent years advocating for him and pushing boundaries; someone motivated to learn everything there is to know about his disorder; someone intelligent enough to understand medical information and apply it to his situation, and whose full attention was on discovering the best possible way to treat his disease.

And most of all, he had someone who cared about him so much they would do anything to make sure he succeeded, not only in life but also in health. In the end, my son’s specialist had become me. From those first precious months counting down the days until he was born, to the moment I opened his stellar report card, it has been me. I am the one following him, and that’s OK. I can’t think of anyone better suited for the job.

Real People. Real Stories.

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We face disability, disease and mental illness together.