Thank you for your order of the Rare Disease Day buttons. We will do our best to get them to you promptly so you can wear them proudly with your “Rare Wear” on February 29th. We hope you can join us with your Rare Wear at Insight Brewing that evening for a Rare Disease Day Happy Hour.
Wednesday, February 28th, 2018 10-12:00pm State Office Building Room 500N (100 Rev Dr Martin Luther King Jr Boulevard, St Paul, MN)
Join us at a State House Reception as we make the voice of rare diseases heard in Minnesota! This session, state legislators will be voting on a bill to create the Chloe Barnes Rare Disease Advisory Council. The council gives the rare disease community a direct voice to our lawmakers. This year’s reception will feature patient advocates, researchers, and legislators who will talk about the issues that the advisory council will address Sign up here to let us know you can attend.
What is Rare Disease Day?
On 28 February 2018, people around the world living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases. The Rare Disease Day 2018 theme ‘Research’ recognizes the exciting advancements research will be making in the next few years to improve the lives of people living with rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation. Patients and patient advocates use their voice to bring about change that:
Rare Disease Day amplifies the voice of rare disease patients so that it is heard all over the world. The patient voice:
Has your grandma knit you a, uhm, unique sweater? Did your sister give you a tie that no one in their right mind would ever wear? What about those great shoes you bought that you want to show off? Rare Disease Day 2017 is your chance! About 300 million people worldwide are living with some kind of rare disease. Of the 7,000 diseases only about 400 have an effective treatment.
Show your support for these individuals by wearing something one-of-a-kind on Tuesday, February 28th and wear one of our “Wear Something Rare” buttons to let your friends and coworkers know why! Contact us or pick up one of the “Wear Something Rare” buttons at Amy’s Cupcake Shoppe.
When: Model your “Rare Wear” with pride along with the button on February 28th – you will be able to pick up a button from the location below during the whole month of February
What: A fun dress-up event following a month long campaign to raise awareness for individuals whose lives have been touched by a rare disease
Where:The buttons are available at Amy’s Cupcake Shoppe in Downtown Hopkins
In partnership with Amy’s Cupcake Shoppe and NORD
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.
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.
This year, you’ll be able to create a team of runners and/or walkers or even create your fundraising page to share with friends who can’t support you in person.
More Details Coming soon!
You can find more blog posts from Erica Barnes here: http://www.chloesfight.org/category/blog/
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”.
Come to the fourth annual Chloe Fest to honor the memory of a brave little 2 year old who died fighting a degenerative disease called metachromatic leukodystrophy (MLD). Every penny raised will go directly to cutting edge research at the University of Minnesota. To learn more go to www.chloesfight.org and let’s add MLD to the list of previously terminal childhood illnesses!
Here’s what we’re going to do to pitch in for this fight. A .09 mile walk/run/skip. That’s not a typo, we want you to join us for a 9/100 of a mile walk around the circle of our neighborhood to help raise money for this cause. We will get everybody signed up/registered from 10:30-11:30am and spend the next half hour getting everybody ready for the big walk which will kick off at noon.
Entry fee will be $25 for adults, $5 for kids. For your $25 you will not only get to help out a great cause but you’ll get plenty of food and plenty of great beer specially crafted for this event by some fantastic homebrewers. Lemonade will be provided for the kids and non-beer-drinkers. We’re also working on getting some raffle items so make sure you save a few bucks for that as well.
When: May 21st, 10:30AM – 2 PM
Where: The Isenberg’s Home, 7608 Elm Grove Cir, Minneapolis, MN 55428-3878
What: 0.5k walk & Green Egg BBQ
Rare Disease Day is celebrated around the world on the last day in February. It is an internationally recognized day designated to raise awareness for the over 7,000 rare diseases that affect the lives of millions. Here is how you can get involved this year in Minnesota:
In partnership with NORD (National Organization of Rare Disorders), the official US sponsor of Rare Disease Day
Statistics:
Case Study:
An In-Depth Analysis of Neuroacanthocytosis
neuro- nerve
acantho- spiny; thorny
cytosis- condition of cells; slight increase in numbers
Neuroacanthocytosis is a general term for a group of rare progressive disorders, chorea being the most common movement disorder associated with it. Chorea is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes are also symptoms that often develop from neuroacanthocytosis. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). Although the mode of transmission may vary, these disorders are typically inherited. Four distinct disorders are usually classified as the “core” neuroacanthocytosis syndromes – chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). All of these disorders share certain findings including abnormal involuntary movements, cognitive deterioration and acanthocytosis. Specifically, acanthocytosis refers to the presence of abnormally-shaped red blood cells called acanthocytes. Red blood cells are formed in the bone marrow and released into the bloodstream where they travel throughout the body delivering oxygen to tissue. Acanthocytes are abnormal red blood cells that have thorny or spiny projections of varying lengths protruding from the surface of the cell. Most adults normally have a small percentage of these unique red blood cells, but when individuals have abnormally high levels of acanthocytes, it often indicates the presence of an underlying disorder.
Author: Cassidy Bianchi-Rossi