What Do Treatment Options for Children with Rare Diseases Depend On?

(First published as an insert in the USA Today published on Sept 1, 2017)

Imagine you are a prize fighter facing the toughest opponent of your life. You step into the ring only to realize you have no boxing gloves and no corner man to coach you through the fight. You have the heart but not the necessary tools.

Now imagine your opponent is a terminal illness and what you are missing is a cure and doctors able to offer you viable treatment options. This is the harsh reality for millions of American children who have been diagnosed with a rare disease.

Finding research incentives

The National Institute of Health estimates that there are roughly 7,000 rare diseases affecting 25-30 million Americans. Only about 500 of these diseases have any sort of treatment option and rare diseases disproportionately affect children. Only 30 percent of these children will live to their fifth birthday.

In 1983 Congress passed the Orphan Drug Act. This landmark piece of legislation provided a set of incentives that encouraged the pharmaceutical industry to consider rare disease drug development as a profitable business prospect and thereby increased interest in rare diseases in the private sector. Less attention, however, has been given to the creation of public institutions that support research crucial to medical advancement in genetics, which would greatly benefit the rare disease community.

The formation of a number of departments within the National Institute of Health such as the Office of Rare Disease Research and the Office of Rare Disease Research at National Center for Advancing Translational Science are hubs of cutting-edge research that provide the essential knowledge advancements. The pharmaceutical industry then uses these advances to develop life-saving drugs for rare diseases. Rare disease treatments depend on these public-private partnerships. Without this synergy millions of children with rare diseases would be completely excluded from opportunities for medical advancement available to children with more common diseases.

Children need our help

As Americans, we operate under the assumption that society owes each child born into this world a certain set of opportunities and protections. We fund public education because all children deserve an education. We fund federal departments that prevent child exploitation because all children deserve protection. Let us continue our commitment to each child born into this country by agreeing that every child deserves a treatment option no matter how rare the disease. Let’s find 7,000 more boxing gloves because every child deserves the chance to fight.

Medicaid Is A Lifeline For Children With Rare Diseases

As America’s lawmakers debate various ways to fix our broken health care system, we in the rare disease community are alarmed by proposed cuts to Medicaid funding. The term “rare disease” is a bit paradoxical. When viewed individually, a particular disease may affect a minuscule portion of the population. But when considered as a whole, roughly 1 in 10 Americans live with a rare disorder. For some the rare disease is progressive and eventually fatal, as in the case of those of us parents who have watched our children develop typically before the onset of a neurodegenerative disease slowly robs them of their function and eventually their lives. For others, the disorder is manageable with diet modifications, scrupulous monitoring by medical specialists, or changes to our environments that allow us to work and function in society.

Nearly all of us have lived through the frustrating experience of the “diagnostic odyssey.” The diagnostic odyssey is a term used to describe the journey through the medical system a rare disease patient makes in order to receive a diagnosis. The average rare disease patient often waits months to years for a diagnosis and is misdiagnosed multiple times. The financial devastation for a patient on this journey is often extraordinary and the prolonged time spent searching for a diagnosis has a negative impact on an individual’s ability to stay employed and maintain insurance coverage. At the end of this odyssey, the relief of finally getting an answer is quickly replaced by the painful fact that only about 300 of the 7,000 rare diseases have any sort of an effective treatment.

Because society has not found cures or effective treatments for even 5% of rare diseases, our community depends on social safety nets for our survival. While many Americans think of Medicaid as primarily a program for low-income families, Medicaid is also a lifeline for the disabled community made up of people who face a lifetime of chronic illness. For those of us with impaired children and full time jobs, Medicaid subsidizes our private insurance with specialized care so that we can go to work and remain taxpayers. Medicaid is the difference between putting our children in a nursing home (a far more expensive option in the long run) or having them home with their siblings and parents. For working adults with a rare condition, Medicaid is the assurance that if our disease increases in severity ­– as it does at unpredictable times – we won’t go without vital medical care between losing one job and finding another. Medicaid is the knowledge for those of us who are caregivers for our disabled adult children that when we can longer work and provide private insurance coverage our children will still be cared for.

Our rare disease community is vast and diverse. Rare diseases do not discriminate between race, socioeconomic status, or geographical region. We hear people casually repeat caricatures of Medicaid recipients and we wince at the oversimplifications. When we listen to the debates raging around us regarding the future of Medicaid we simply ask you to look past the stereotypes and consider the very real consequences Medicaid cuts will have on real people in your community living with rare diseases.

President Trump, in honor of Rare Disease Day recognize the international medical community

February 28th is internationally recognized as Rare Disease Day. My daughter, Chloe, was diagnosed with a rare and terminal disease at the age of two in a miraculously short time due to the brilliance of her neurologist. The neurologist was Canadian. Chloe’s only hope of survival was a bone marrow transplant, a risky and arduous procedure. We put our youngest child’s life in the hands of a capable and caring surgeon at the Mayo Clinic. She was Pakistani. Throughout the transplant there were long days of agony and fear as we awaited the outcome. Since her immune system was completely gone, neither she nor I could leave our tiny ICU room. The resident on the medical team brought me a Starbucks coffee each morning. He was Egyptian. When it became clear that Chloe’s chances for survival were non-existent, we met with the team to decide whether to try a risky and painful second transplant or let her go. I shared with the doctors that I believed deeply in medicine but also that, at the end of the day, my Christian faith informed me that it is God who decides how many days we have on this earth. I sensed that my decision resonated deeply with my Pakistani doctor’s faith as well. She was a Muslim.

After Chloe passed away, my husband and I decided that we would dedicate our lives to finding a cure to the disease that took her in such a horrific way. We have formed deep and meaningful relationships with two amazing researchers in whom we have the utmost confidence. One is Czech. Our medical advisory board is made up of three men we have met on our journey who are volunteering their time and energy with no compensation other than helping grieving parents realize their dream of finding a cure for metachromatic leukodystrophy. Two of the three are immigrants. One is a green card holder. At a recent Christmas party I bumped into a colleague of our Czech researcher. We chatted about the exciting research at the University of Minnesota and its potential to save lives. He was Syrian.

In thinking through the list of medical professionals I have met throughout my experiences with rare diseases I am struck with the truly international nature of medicine and I worry about the impact that the Trump administration’s recent travel ban could have on scientific collaboration. President Trump continues to craft policies that restrict the flow of foreigners to the United States. In addition to severely hindering the influx of researchers and medical professionals from the seven banned countries, his sweeping approach to immigration has the potential to discourage physicians from other countries such as India and Pakistan from pursuing medical careers in the United states discourage physicians from other countries such as India and Pakistan from pursuing medical careers in the United States. The Mayo Clinic alone employs eighty medical staff, physicians, or scholars with ties to the seven restricted countries and these individuals could face logistical nightmares should they seek to travel outside the United States. Medical conferences are held around the world and the ability to come in and out of the United States is of critical importance to researchers’ ability to collaborate on vital medical discoveries.

The image of immigrants evoked by the current administration is often one of free loaders and criminals here to take our jobs or worse. Trump’s protectionist policies benefit from the public’s perception that immigrants are low education, low wage drains on our economy. But the American medical community employs a significant number of immigrants. Often these physicians work in rural communities where there are already doctor shortages. According to the American Medical Association, one in every four physicians practicing in the United States is foreign born with a high percentage being from Muslim majority Pakistan. The consequences of a reduction in doctor supply from Pakistan and other countries that perceive the United States no longer welcomes foreigners would be very serious.

A large number of people reading this post will face a medical crisis at one point or another. I will tell you from experience that in that moment of life and death you will not care if the first (or middle) name of your doctor is “Hussein”. You will not be interested in an extended theological discussion about Islam. You will want the very best physician who will care for you with knowledge and compassion. Today in honor of Rare Disease Day I challenge the administration’s image of the foreigner. Today I remind every American that a large number of America’s immigrants wear white lab coats and have stethoscopes hanging around their necks.

Prince Deserves to Be Remembered as More Than Just a Rock Icon

Driving home from work last week it was surreal to listen to local news coverage of the live press conference in Chanhassen, MN, knowing that the whole world was tuning in to my home town. Local law enforcement was addressing the public outside of Paisley Park, home of the rock legend Prince who, of course, had just died. The grief for us Minnesotans is unique and multilayered because Prince, while being an intensely private man, was also deeply embedded in his Minneapolis community and its suburbs where he was born and raised. After the renovation of the Minneapolis fixture the Uptown Theater, a local movie critic mentioned in passing that Prince occasionally slipped in to watch a film. (It became my habit after that to scan the audience to see if he and I had the same cinematic taste.) He had his own private table at the Dakota Jazz Club downtown. Some of my friends live a few doors down from one of his rental properties. I had even heard that he would once in a while do some door to door evangelizing for his small church located in St. Louis Park just minutes from my own home.

But nothing has made Prince’s humanity more real to me personally than my recent discovery that Prince and then-wife Mayte Garcia lost a child to a rare and incurable disease in 1996. Prince was virtually silent on the subject, but I read Matye’s words with complete understanding as she talked of how the death of their son, Boy, contributed to the collapse of her marriage. “I believe a child dying between a couple either makes you stronger or it doesn’t. For me, it was very, very hard to move forward and for us as a couple I think it probably broke us.” When my own daughter died I walked the same path. My husband and I were lucky. We made it. But there were ugly, ugly moments, Mayte. And we didn’t have the pressures of fame and public scrutiny that you and Prince had to shoulder.

The tributes to Prince are numerous and I have smiled at some of the wittier recollections of people like Liz Meriwether who had the privilege of working directly with him on an episode of New Girl. But these pieces, as lovely as they are, also remind me that fame is isolating. My own personal journey taught me that grief is isolating and Prince had to deal with both. I don’t know how much of Prince’s personal loss contributed to his need for privacy, but I feel a deep sadness thinking that perhaps his fame made it that much harder for him to grieve for the loss of his child. I wonder if all of the hype and idolizing of him obscured the fact to his associates that at end of the day each and every one of us have this in common; we all suffer.

I also don’t know anything about how Prince grieved. It never occurred to me to expect a Prince sighting in the Minneapolis cemetery where my own daughter is buried. I don’t know when he finally got the courage to take down the swing set in the yard one of his backup dancers said he put up in anticipation of the birth of his child. I don’t know if he could bear to eventually change the play room he showed Oprah into a room with a functional purpose. I don’t know if he ever wondered on Boy’s birthday what life would have been like if he had lived. I don’t know any of these things, but I hope that he found some way to be a parent to his child or at the very least hold Boy’s memory in a sacred place inside him.

Prince’s fans are mourning the loss of a rock icon and a musical genius and, of course, he was these things. But I mourn for him as something far more elemental. I mourn for him as a husband who tried to hold his marriage together in the face of unimaginable loss. I mourn for him as a father who had to do the unthinkable and bury his own son. Rest in peace together, Prince and Boy.

February 29th is Rare Disease Day: 4 Reasons You Should Care

Before my daughter passed away from a rare disease I had never heard of “Rare Disease Day” and knew next to nothing about the impact rare disorders have on society. Over the past few years I have learned that rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public.

A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time. The last day in February is an internationally recognized day set aside to raise awareness of the impact that rare diseases have on society. Here is what you need to know:

1. Rare diseases aren’t actually that rare.
While each individual rare disease affects only a small percentage of the population, there are over 7,000 rare diseases. When combined, they collectively affect 10% of the general population or 30 million people. Of these 30 million people, roughly half are children and 4.5 million of them won’t live to the age of five.

2. Of the 7,000 rare diseases only 4% have an effective treatment.
When my own daughter was finally diagnosed with a rare genetic disorder known as metachromatic leukodystrophy I momentarily felt a sense of relief. The agony of watching helplessly as her health declined and visiting expert after expert who all seemed baffled by her condition appeared to be at an end. Until the neurologist’s next piece of information. The disease is terminal. And there is no cure. While our family was “lucky” to have at least had a treatment option for slowing down the disease progression, there is little to nothing the medical community can do for the vast majority of children diagnosed with a rare disorder.

3. Rare disease research faces practical challenges that, if solved, could shift thinking for how medical research is conducted in the industry as a whole.
There are a number of barriers inherent to researching rare disorders. Patients are often scattered over a large demographic and even finding an adequate number people affected by a particular disease to conduct a well-designed clinical trial can be challenging. Additionally, medical literature describing key characteristics of a particular disease are scarce or non-existent, making it difficult for experts to build on previous knowledge. The current, traditional model of research and drug development that conceives of research results as intellectual property and sets up competition among researchers is unrealistic with such small patient populations. In order to overcome this barrier, some rare disease experts are leading advocates for revolutionary new research models that are more collaborative and open-sourced. This shift in philosophy to sharing vital research results more openly will benefit drug discovery as a whole by potentially reducing the costs and inefficiencies associated with replicating research in drug development.

4. Researching rare genetic disorders will increase the chance of finding cures for more common diseases. 
Many rare diseases of a genetic nature are “single gene disorders”(the result of just one faulty gene). By contrast, many common diseases are polygenic (the result of the interaction of several different genes) and multi-factoral (in part due to many factors such as life-style and environment). The ability to isolate the single cause of a rare disease simplifies the research process since there are fewer variables to consider. Diseases such as Alzheimer’s and multiple sclerosis whose symptoms don’t show up until adulthood must be studied taking into account the many factors that have influenced the disease process over the course of an individual’s lifetime and may benefit from the information that could be learned from similar degenerative rare diseases.

Until the last couple of decades rare diseases were truly neglected in the medical community and by society in general, even earning them the nickname “orphan diseases”. Fortunately, through a combination of legislation and advocacy, more people are beginning to understand why everyone should care about Rare Disease Day.

No Pharmaceutical Tycoon Should Get Rich Off the Disease That Killed My Daughter

This week the story of Turing Pharmaceutical CEO Martin Shkreli and his hiking of the price of a decades-old pill that treats the serious illness toxoplasmosis from $13.50 to $750 broke. I was outraged as the vast majority of Americans were. But a special wave of nausea swept over me when I read more about this former hedge-fund manager turned biotech venture capitalist. In his biography, characterized by an incessant thirst for wealth and shady business practices, is a fact of personal significance to me. In 2011, Mr. Shkreli founded biotech firm Retrophin with the goal of focusing on medicines for rare diseases.

I lost my two-year-old daughter to a rare and as yet incurable disease. It’s funny how the memory of mind-numbing fear and rat-trapped-in-a-cage desperation lurks just below the surface of a mother’s existence after losing a child. The memory of being unable to do anything to save my child isn’t just a mental exercise. It is a very real and raw sensation that I relive over and over and will my entire life at unpredictable moments. So when I pictured a man like Mr. Shkreli someday holding the key to a terminally ill two-year-old’s only hope of survival, I became literally sick.

It’s easy to vilify this man. His choice to make a 5000 percent return on an old product was obviously pure, unadulterated greed. Only the most naïve individual or an individual who is totally invested in the ideology of free markets at the expense of humanity would be satisfied with his flimsy excuses. Even the trade group PhRMA has distanced itself from his actions in a public statement and other industry professionals such as John Maraganore, CEO of biotech Alnylam Pharmaceuticals, have heavily criticized him.

But this man’s actions put before Americans a case study that should trigger some collective self-examination. This story gives us an opportunity to rethink the principles we as a society operate on that allows a man like Mr. Shkreli to do what he does.

It gives us a chance to ask ourselves if the free-market framework of a product’s value being determined by “what people are willing to pay” should be a significant factor in drug development and the cost of a drug. What a person is willing to pay for a product is great for things like tennis shoes and sports cars.

At the end of the day I can walk away from a new purse. But I couldn’t walk away from the life of my child. Hell, I even bargained with God. I told Him I would give 10-15 years of my life if He would spare my child. If He would have taken me up in it, I know I would gladly have paid for her survival with my very life span. So when “what people will pay for a drug” is a significant determiner of what a business is allowed to charge a woman in my position, how can we rationally think that this won’t lend itself to exploitation?

I know research is expensive. I also know that biotechs and pharmaceuticals take huge risks in investing millions of dollars into products that may, in the end, be ineffective and therefore a loss to the company. All of this must, of course, be taken into account when pricing drugs. But I also know that the pharmaceutical industry is enormously lucrative and drug pricing is anything but a transparent process to the public. While the issue of drug development, research, and pricing drugs to reflect the costs is admittedly complex, there is one simple fact that discourages me. It is possible to get very rich off diseases like the one that killed my daughter.

Believe me, I am in no way claiming to be qualified to argue for specific policies that can best take into account the protection of the sick and dying as well as support innovative drug development. But what I am arguing for goes deeper and forms the groundwork that sound policies must be built on.

I am calling for a change in American values when it comes to medicine and treatments. I am advocating for an underlying societal value that says that suffering, illness, and dying should not be a space in which companies and individuals can amass enormous wealth. If the will of the people of the United States were driven by this value, I have no doubt that we could draft sound policies that would reflect that value and also drive us to find cures.

You see, the fact of the matter is that there will always be people like Martin Shkreli. People who are shrewd enough and unscrupulous enough to know that the real “market value” of desperation for a family with a dying child is whatever price tag their greed wants it to be.

The Zero Sum Happiness Game (Or, What I Want My Daughter to Know About Being Human)

America is a happiness-obsessed society. This observation has been made so many times that it is almost a platitude to say it. Oh, I’m not claiming that we are actually happy people. In fact, most surveys indicate that we Americans are less happy than people in many other cultures. I will leave the explanations for this to people far more astute than I am. But suffice it to say that happiness is a value so enshrined in the American psyche that it even made it into our Constitution. “Life, liberty, the pursuit of happiness…”

Don’t get me wrong. I’m not arguing that the desire to be happy is bad or even unrealistic. But there does seem to be an underlying assumption in popular culture that the ideal to strive for in this life is one hundred percent happiness. One hundred percent of the time. The fact that we must know that this is not rationally possible doesn’t seem to change the fact that we try to be. And we just don’t do very well as a culture accommodating other-than-happy in our everyday lives. We avoid anything that might make us the least bit sad or uncomfortable. And we really wish that other people would avoid sad and uncomfortable topics when they chat with us. So when the lady that always mentions the funny things her dead daughter used to do starts talking about said daughter at a dinner party we smile politely but quickly change the topic. Because what she is talking about is, well, sad.

In the days before Chloe died after a prolonged battle with a terminal neural disease, my husband and I had a conversation with a grief counselor about coping with the future without Chloe. The counselor was an amazingly insightful woman and when we asked her if we should plan on getting on some sort of medication to handle the grief her response was, “Don’t confuse sadness with depression. Your 2-year-old is dying. You are supposed to be sad.” I was supposed to be sad. The phrase jarred me, but it also gave me an immense sense of relief. This crushing, bruising, overwhelming sadness was appropriate. Even somehow necessary. See, the problem with a “being completely happy” goal is that it becomes a zero sum game. What if something so devastating happens that one hundred percent happiness isn’t possible? The alternative is no happiness. Game over.

Admittedly, papering over the deep gashes of my own personal brokenness is tempting. I don’t want to stare at the chasm where my daughter used to be and wrestle with how to fill it. Or admit that I can never fill it. And culture doesn’t make the balancing of joy and pain easy. I find infinite escape hatches from the pain. I can Facebook façade post unpleasant realities away. I can medicate the pain away. Maybe even religious explanation bad-things-happening-to-good people it away. Anything but actually stopping and doing the hard work of learning to let grief and happiness coexist. But there is a resting that comes from admitting that I cannot be perfectly happy and that this deep emptiness will never go away. To really meditate on the fact that there is inherent in human existence pain and brokenness. That ignoring my own brokenness will only lead to more brokenness and isolation.

In the weeks after Chloe’s funeral my oldest child (who was 4 at the time) asked me constantly “mommy, are you sad?” I had made the decision to be as honest with her as possible, and so at first I simply responded with what I truly thought was an honest answer: “Yes, I am very sad, honey.” But anyone with young children knows that if a child continues to ask the same question repeatedly, there is a good chance that the grown-up is missing something and would do well to give a more thoughtful response. And one day I was finally ready for her question.

“Mommy, are you sad?”

(Pulling her up on my lap.) “Yes Eva, I am very sad. And there is a little part of my heart that is sad all the time. But you know what? There is a big part of my heart that is very happy.”

And I proceeded to tell her all of the things (including having her with me) that made me happy. At the end of the list I hugged her and said “So I’ll probably always be really happy and a little sad all the time from now on.”

That is the last time I have had the “happiness discussion” with Eva. I hope it was as formative a moment for her as it was for me. I hope she grows up to be a woman that can deeply grieve the loss of her beloved sister, hate the brokenness in the universe that causes death and sickness, go out dancing with friends, and laugh uproariously at lively dinner parties all at the same time. I hope she learns to gather the jagged shards of loss, disappointment, joy, and happiness that are so mixed together in this universe and not try to construct a perfect life with neatly interlocking pieces out of them. I hope she simply holds the brokenness in her hands. If she learns to do this there is a good chance that she will never be one hundred percent happy. But she will be honest. Some things are better than complete happiness.

Finding A Name

Mother’s Day came and went and with it the familiar struggle to find a label for myself. I like definitions for things. Labels are comforting and secure. Call it a personality trait, but I often feel if I could just find a word that describes the person I’ve become since losing my daughter I would somehow be able to own that title and act the way a whatever-the-word-is acts. I once heard a person say that we can find titles for all kinds of loss. A woman who loses her husband is a widow. A man who loses his wife is a widower. A child who loses his or her parents is an orphan. But, so the argument went, the loss of a child is so deep and painful that humanity hasn’t been able to find a word for it. Maybe that’s true. The thought resonated with me when I first heard it. But in the years since losing Chloe, I have come to a different conclusion for why we haven’t found a special title for a person who loses a child.

Chloe was a spunky, beautiful, curly headed 2-year-old with a life of breathless wonder ahead of her. My husband Philip and I had already woven more hopes and dreams for her future than I could count. When she was diagnosed with a terminal degenerative neural disease and only a slim chance of a cure, my husband and I did what any young parents would do for their baby; we fought like hell to save her life (or ensure she would live with the best quality of life possible) and adjusted our expectations as best we could. With every new piece of nightmarish diagnosis we tried to shift our parental paradigm to what her future may look like. “My God, Chloe may not be able to dance at her own prom. I just want her to be able to walk with a walker. Ok, I just want her to be able to walk AT ALL. Ok, the disease is going to cause intellectual impairment. I just want her to graduate high school. I just want her to be able to talk a little, maybe express her basic wants and needs. I just want my baby to live. I just want my baby to die without too much pain.”

The week that Chloe laid in hospice, I packed up all but a few of her clothes, toys and furniture and took them to a center that houses women struggling with addiction and their children. It was one of a series of difficult things I had done since hearing her diagnosis of metachromatic leukodystrophy. I stared blankly at the tiny, new coat she had never even worn. In the anticipation that is second nature to a parent, I had bought her the coat ahead of winter. This is what parenting is. Countless acts of caring for our children. Tangible acts of love and care. Thinking ahead for them. How would this coat accomplish the purpose I as a parent had intended for it? I knew the hard answer in this new existence of mine; by being worn by a little girl who needed it. That day a journey to find a new way to parent Chloe began.

A couple of days before Chloe died, Philip and I sat beside her bed and made her this sacred promise. We promised her that we would do all of the good in the world we were meant to do as well as all the good she would have done if she had lived. This promise has been a driving force in our lives ever since and has crystallized choice after choice for us. While it requires honesty on our parts and constant reassessing of our own emotional health to stay grounded, is our new parenting paradigm.

In 2014, Philip and I founded the Chloe’s Fight Rare Disease Foundation whose mission it is to fund research that finds treatments for rare and underfunded diseases such as metachromatic leukodystrophy. We are often called heroes but we aren’t. We make the choice to tirelessly raise money, ceaselessly promote, obsessively research for the reason that all moms and dads make their choices. So that, at the end of the day we can lay our heads down on our pillows and call ourselves what we all want to be called; a good parent. When a cure for metachromatic leukodystrophy is discovered (and if I had a part in it) if my name is never mentioned I won’t care. Somehow Chloe will know and I will have done my job for her. You see, parenthood doesn’t end when your child dies. I am and ever will be the mother of Chloe Sophia Barnes. So back to the assertion that society cannot find a word for a person who has lost a child. I believe society has the word. The word is “parent”.