A letter from Lindsey to her rare disease. Lindsey is a young woman living with Familial Chylomicronemia Syndrome, a rare genetic disorder in which the body does not break down fats correctly.
Help raise awareness for rare diseases and share her powerful letter. Don’t forget to join us on February 29th at the Massachusetts State House to recognize Rare Disease Day and the research being done in Massachusetts to treat and cure rare disease.
We sure have been through a lot together and after 25 years, I am still trying to figure you out. You make my life so hard almost every single day. I cannot go an hour without stressing, that because of you, I am going to get pancreatitis. I worry every single day about the symptoms you may bring and also how we are going to work together in the future. I want to children and not have to spend my entire pregnancy in the hospital and I definitely do not want my children to endure what I have had to.
Can you ever give me a break?! I think at this point, I deserve that. I know that I am nowhere near perfect when it comes to eating and I am the first to admit when I over do it. You tolerate those times when those brownies look too great to pass up, but really, I only have a bite and the next day you make me pay for it. In fact, I pay for it for multiple days, sometimes more than a week. The worst part is I have grown so accustomed to feeling so crummy every day that I have forgotten that it isn’t normal. At this age, I should feel so fantastic. You sure have helped me become a great actress because I will fake how I feel every day. I even have my family and closest friends fooled. Faking feeling well is mentally draining and I hate you for being the root of my health problems. You have truly succeeded in exhausting me. What I really don’t understand is even when I eat perfect (under 10 grams of fat, low carbohydrates, high protein, low sugar) how you are still unhappy. I could eat salad and water and you’d find a way to cause that awful and all too familiar rib cage and scapula pain. I can’t take pain meds 24/7! I have things to do: work, spend time with friends/family…you know, have a normal life. I know you love to make me cancel plans and rest all day but life doesn’t work that way. Please show me some mercy. I am thankful I am not hospitalized as often but I just want to wake up and feel amazing. Please let me feel that way!
I don’t think you’re aware of how scared of you I am. You scare me more than anything because you hold my health in your hands. I have been hospitalized nearly more than 30 times, one attack almost taking my life. I know that I have caused a couple of those attacks with poor choices but the rest is all you. I know you have heard me cry myself to sleep countless nights, felt my anxiety and anger. I feel like I try and treat you so nicely but nothing works. You have caused me to shut down around family and best friend because I am so tired of seeing them worry about me all the time. I have seen what you have to my parents, especially when I was sick every 2 months. You have caused us hell – oh, and getting sick on my dad’s birthday a couple of weeks ago, that was really great. Thanks for that one, we really appreciated celebrating in the ER.
I think one of the worst things is that I don’t feel I have an outlet. When I am feeling really bad, I don’t want to be a burden on anyone. I don’t want people to ever think, “Oh, she feels sick again, she never feels well”. I hate that many people do not understand what it is like living with this disease. If you would not make me feel so bad, this problem would go away!
As much as I want to sit here and tell you how much I despise you, I can’t. Although I strongly dislike you, because of you, I have become so strong, an advocate, independent, incredibly positive. I know no matter what, you will never stand in my way. At the end of the day, you are a part of me and I hope that as time continues, we can learn to better work with one another instead of against.
Lindsey, a young woman living with FCS (LPLD).
Chris Anselmo shares his journey with dysferlinopathy, a rare, muscle-weakening disease.
Be sure to share Chris’ story and join him and other rare disease patients on February 29th at the Massachusetts State House to recognize Rare Disease Day and the research being done in Massachusetts to treat and cure rare disease.
A Rare Diagnosis
It all started with a car accident.
Up until one fateful night in October 2003, I had no reason to think that I was living with a rare disease. For the first 17 years of my life, I was a healthy, active, fully functional high school senior with my eyes set on college and the next chapter in my life.
On that night, my friend was driving me home from the movies, when he became distracted by something he saw in the rear view mirror. For whatever reason, he thought the light had turned green. Seconds later, the car we were driving in was slammed into by a pickup truck traveling 45 miles per hour. Our car was a crumpled wreck, and the entire impact was on the passenger side where I was sitting.
It is a miracle that everyone involved emerged unscathed aside from a few cuts and bruises. It was a traumatic experience on its own, but it paled in comparison to the ordeal that was to come for me. Later that night, while I lay awake in my hospital bed, unable to sleep due to the pain on my right side, a doctor came in with news that would begin my patient journey.
I was in a haze from painkillers, so I don’t remember exactly what the doctor said, but I remember the concern on her face. The blood test I had done when I got to the emergency room came back with astronomically high levels of creatine kinase – a marker of muscle breakdown. Initially, they feared I had suffered some sort of internal injury, but it was ruled out after follow-up tests and I was sent home. Yet, in follow-up visits, the levels didn’t go down as they had initially hoped, which raised a red flag. Something was clearly wrong inside of me.
One year later, after testing for and ruling out liver disease, and after a biopsy of my left thigh, I was finally diagnosed with dysferlinopathy. It was explained to me that I was missing something called “dysferlin” – a protein that, if you don’t have it, eventually leads to muscular dystrophy. I was assured after initial fears that symptoms would not manifest until later in life, when there surely would be some sort of treatment. I was told to follow up with an adult neurology clinic, just to be safe, but it was nothing to be preoccupied with. I asked if I could go to college worry-free, and I was told I could.
Four years passed. I attended Northeastern University in Boston, and had a normal, exhilarating college experience. I was asymptomatic during this time, so naturally I let my guard down. I was naive, but in retrospect I am happy I was. If I fully understood the magnitude of what was to come, I would have been devastated. By May 2008, I had graduated from Northeastern with a degree in marketing. It was then that I began to experience weakness, as if a flip had switched inside my body.
With a muscle-weakening disease, you can tell when things are starting to “go.” You remember these indelible, traumatic events because they are seared into your mind. I’ve seen others refer to them as “milestones,” and unfortunately, it is a fitting metaphor. They stay with you, and no matter how much you want them to, they don’t go away.
My first milestone where I knew something was wrong was in late 2008 when I went for a run, turned a corner, and my legs tired out. I thought it was odd, but I didn’t think much of it. A few weeks later I went running again, only I couldn’t make it as far as my previous run. For whatever reason, I didn’t realize that it was because of my disease. I was only 22; it wasn’t supposed to happen until much, much later. I chalked it up as being out of shape, and figured that I just didn’t gain strength as fast because of this missing protein.
My second milestone happened about a year later, when I moved with my college buddies to a three-story house in Boston. I was carrying my desk chair up the stairs and was having great difficulty. I had to stop every few steps to regain my strength and balance. I remember it well, because it was at this point where I began to put the pieces together. I remember the unsettling feeling in my stomach, the joy of moving to a new apartment now replaced by anxiety and fear.
A year after moving in I experienced my first fall – by far the most traumatic milestone of my life.
It was a Saturday morning. I was walking to the store with my roommate, took a step, and my right leg gave out, causing me to crumple into a heap on the sidewalk. My roommate stopped and asked if I was OK. I told him I didn’t know, but that was a lie. I knew. The emotional pain that resulted was far worse than the physical pain of scraping my knee.
Falling and the sudden reality that I couldn’t get from Point A to Point B without the possibility of crumbling to the ground turned my world upside down. It affected my outlook on life and my relationships with others. It affected how I perceived my future, my attitude and my productivity at work. Every facet of my life suffered with this new reality. It was a terrible time.
Since that day, I have fallen countless more times, ruining every pair of jeans I’ve owned because I inevitably tear holes in the knees on the pavement. When I do fall, I need someone to help me, as I no longer have the strength to get back up. I’ve progressed to Lofstrand crutches and have given up going on long walks, which was very tough as I used to love exploring new neighborhoods in Boston. Stairs are my mortal enemy and can’t be navigated. As of the last few months, I can’t get out of chairs (unless it’s a high chair) without someone picking me up under my armpits.
Picking Myself Back Up
This has all been very difficult to deal with, as the dreams I once had for myself as a young adult have been derailed by unrelenting muscle weakness. Despite the trials and setbacks, this disease taught me an invaluable skill – how to pick myself back up. Without learning resilience I would have given up on my future.
One day I had enough. I came to the conclusion that I wasn’t doing myself any good by being miserable and comparing myself to others my age who seemingly had everything. I sought a way to use my experience as a positive. Through sheer determination, a fire was kindled inside of me to make a better life for myself than I would have had without the disease. I sought ways to get involved and make a difference in finding a cure.
I became more involved with the Jain Foundation, an organization dedicated to finding a cure for dysferlinopathy. I was given the opportunity to share my patient story at the International Dysferlin Conference in April 2013, a huge thrill that cultivated my passion for public speaking. From connections made at that conference, I was introduced to three researchers in the Boston area who have family members with muscular dystrophy. In November 2014 we hosted the second annual Strength, Science and Stories of Inspiration fundraiser at the MIT Museum in Cambridge. It brought together stakeholders in the muscle disease community, and I had the opportunity to share my patient story in front of 200 people. It was the most rewarding night of my life.
I still struggle with the effects of my disease. I accept that I am always going to be “day-to-day”, both physically and emotionally. Any time I experience a new milestone, I regress into a funk, but I have risen every time. Although some dreams are unachievable, I haven’t let my disease stop me from dreaming big. After years of shuffling my feet, I returned to school, and am currently an MBA candidate at Boston College, graduating in May. It has been a long, strange, difficult journey. Through continued funding and research, I know that brighter days are ahead.
Dysferlinopathy has given me a clear purpose for what I want to do in life – to use my story to help others. A purpose for living is incredibly powerful, and I know that without this disease, there is no way I would have the ambition and determination I have today. I am beginning to experience the fruits of my struggle (it is about time!), and that has given me great joy. I have my first speaking engagement at a high school in Connecticut in late February, and four days later will be speaking at Rare Disease Day at the Massachusetts State House.
I always think that someday this will all be worth it, but I am starting to realize that day is already here.
1) Baxalta wins FDA approval with a treatment for a rare bleeding disease – FierceBiotech, 12/8/2015
Baxalta ($BXLT) picked up FDA approval for a drug that treats von Willebrand disease, a rare inherited bleeding disorder that results from a missing protein.
2) For Epizyme chief executive, the work is personal– Boston Globe, 12/4/2015
Epizyme Inc.’s new chief executive Robert Bazemore understands the disease his company is targeting only too well. When he was introduced to employees this summer, Bazemore surprised them by disclosing that he’s a survivor of non-Hodgkin’s lymphoma, a life-threatening blood cancer that could potentially be treated by the company’s lead drug candidate.
3) Novo Nordisk partners with IBM Watson Health to develop diabetes management tools – BBJ, 12/10/2015
Novo Nordisk plans to use IBM Watson Health to analyze its data on patients with diabetes, announcing today an agreement with the IBM subsidiary.
4) Drug may give those leaving jail a better shot at recovery – Boston Globe, 12/9/2015
But the drug itself may not be the real game-changer, said Dr. Barbara Herbert, president of the Massachusetts chapter of the American Society of Addiction Medicine. More crucial, she said, are efforts by the manufacturer, Waltham drug maker Alkermes, to push prisons to link departing inmates with services on the outside, measures often lacking in the past.
5) FDA approves Alexion drug for ultra-rare disease – Reuters, 12/8/2015
The U.S. Food and Drug Administration on Tuesday approved Alexion Pharmaceutical Inc’s treatment for an ultra-rare and potentially fatal genetic disorder.
1) With the help of patient groups, biotechs hone in on rare diseases – BBJ, February 26, 2015
This Saturday is worldwide Rare Disease Day, the eighth such day coordinated by the European Organization for Rare Diseases to draw attention to the some 7,000 diseases which are shares by a small number of patients each — many just a few thousand — but collectively affect 350 million people globally. Fueled both by scientific advances in genetics and the support of patient organizations, the biotech industry is showing more interest than ever in developing drugs for such diseases. Besides Genzyme Corp. and Shire, scores of smaller biotechs are focusing on genetically defined conditions with small patient populations.
2) Cost concerns at center of debate over rare disease treatment – Nashoba Publishing, February 26, 2015
As drug companies pioneer new methods of treating an array of diseases, some lawmakers want to limit the out-of-pocket cost to health plan members purchasing medications while others worry that tack would cause costs to soar.
3) What 23andMe’s FDA Approval Means For The Future Of Genomics – Forbes, February 20, 2015
Last night, the Food and Drug Administration approved a test made by 23andMe, the Mountain View, Calif.-based personal genetics company, for a gene that can cause a rare disorder called Bloom Syndrome, which causes short stature and a heightened risk of cancer.
4) Cambridge firms will use gene database to make new drugs – Boston Globe, February 23, 2015
Two Cambridge life sciences companies have struck a deal to collaborate on making new cancer drugs.Foundation Medicine, which tests tumors for genetic mutations and suggests treatment plans to doctors, said it would make its genetic database available to H3 Biomedicine as part of a multi-year agreement to create and commercialize new drugs. The database, called FoundationCORE, contains genetic information on more than 35,000 samples.
5) Dicerna doubles in size and moves to West Cambridge – BBJ, February 26, 2015
With two clinical trials underway and a third set to begin later this year, Dicerna Pharmaceuticals is today moving into a new lab and office space that’s twice the size of its Watertown headquarters.
On Monday, February 23rd, more than 100 patient advocates, biotechnology industry stakeholders and legislators gathered at the Massachusetts State House to mark the 8th annual Rare Disease Day.
The complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones. The Rare Disease Day 2015 theme Living with a Rare Disease pays tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients.
In 2011, Governor Deval Patrick designated the last day of February as Rare Disease Day in order to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and countless others around the world.
Our Rare Disease Day at the State House began with a panel discussion in the morning. The Forum, “State of Rare: Taking Stock of Rare Disease Research Today & Tomorrow” featured speakers: Norman Barton, M.D., Ph.D., Vice President, Clinical Development, Shire, Ed Kaye, M.D., Senior Vice President, Chief Medical Officer, Sarepta Therapeutics, Karen Peluso, Executive Director, Neurofibromatosis Northeast, Steve Uden M.D., Senior Vice President, Research, Alexion Pharmaceuticals and moderator Ken Dhimitri, Vice President, Operations, Boston Biomedical Associates.