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Patient Voices: Dear FCS

Handwriting, hand  writes with a pen in a notebookA 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.

Dear FCS,

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).

 

 

Top 5 News: 2/20-2/27

Top 5 logo1) 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.
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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.
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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.
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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.
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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.
Link

Rare Disease Day 2015 Recap

DSC_0002On 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.

DSC_0020 Read the rest of this entry

Recognize Rare Disease Day with MassBio this Monday!

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There are approximately 30 million people living with a rare disease in the USA, between 27 and 36 million in the EU, and collectively around the globe, the rare disease community is estimated to include 350 million people. There are more than 7,000 rare diseases, many of them with no treatment or cure.

The last day of February has been designated as Rare Disease Day in Massachusetts to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and countless others around the world.

Join us at our events on Monday, February 23rd to recognize Rare Disease Day!

DSC_0050Rare Disease Day 2015
Location: Great Hall, Massachusetts State House, Boston
Time: 11:00 am – 12:00 pm

Join MassBio, VHL Alliance, member companies, patient groups, patients and legislators to recognize Rare Disease Day.

Speakers include:

  • Chris Anselmo, Miyoshi Myopathy patient
  • Megan Duff, Neurofibromatosis type 1 patient
  • Lisa Cimino, mom of a Focal Segmental Glomerulosclerosis (FSGS) patient
  • Senator Karen Spilka, Co-Chair of the Massachusetts Biotech Caucus
  • Peter Saltonstall, President & CEO, National Organization of Rare Disorders
  • Ilene Sussman, Executive Director, VHL Alliance (Emcee)

DSC_0004State of Rare: Taking Stock of Rare Disease Research Today & Tomorrow
Location:
Great Hall, Massachusetts State House, Boston
Time: 9:00 am – 10:30 am

This second annual Rare Disease Day panel discussion will feature key leaders in orphan drug development, emphasize the importance of research and development in rare disease, and highlight the role that patients play in bringing much-needed therapies to market. 

Panelists:

  • 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
  • Ken Dhimitri, Vice President, Operations, Boston Biomedical Associates (Moderator)

Missed our #Impact2020 Twitter Chat on rare disease research? Check out our Storify recapping the chat!

Rare Disease Day 2014 Recap

On Friday, February 28th, 2014 more than 100 patient advocates, biotechnology industry stakeholders and legislators gathered at the Massachusetts State House to mark the 7th annual Rare Disease Day.

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.

This year, we kicked off Rare Disease Day at the State House with a panel discussion in the morning. The Forum, “Celebrating 30 Years of the Orphan Drug Act & the Evolution of Drug Development for Therapies in Rare Diseases” featured speakers: Senator Karen Spilka, Majority Whip, Massachusetts State Senate, Phil Vickers, PhD, Head of Research and Development at Shire, Marlene Haffner, MD, MPH, President & CEO of Haffner Associates, LLC, Patricia Weltin, Executive Director at the Rare Disease United Foundation, and moderator John Crowley, JD, MBA, President and CEO, Amicus Therapeutics.

Left to right: Sen. Spilka, Marlene Haffner, John Crowley, Patricia Weltin, & Phil Vickers

From left: Sen. Spilka, Marlene Haffner, John Crowley, Patricia Weltin, & Phil Vickers.

After the panel, we held our annual recognition event in Nurses Hall, organized this year with the help of VHL Alliance.

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Event speakers included (from left) Ilene Sussman, Executive Director of VHL Alliance, Pamela Gavin, Chief Operating Officer of the National Organization for Rare Disorders, Katie Brandt, Caregiver & Volunteer Coordinator for the Association for Frontotemporal Degeneration, and Carmen Camacho, Patient with the Hermansky-Pudlak Syndrome Network Inc. pictured here with event organizer Sarah MacDonald, VP of Development & Communications at MassBio. State Senator Karen Spilka and State Representative Marjorie Decker also joined us for the event and gave remarks.

Overhead view of the Rare Disease Day audience

Overhead view of the Rare Disease Day audience

 

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After the recognition event, the Rare Disease United Foundation held a reception for Rare Disease Day attendees as the grand finale to their art exhibit displaying artwork created by rare disease patients and their loved ones on display in Doric Hall throughout the week leading up to Rare Disease Day.

Most rare diseases still do not have treatments. Of the 7,000 listed on the National Institute of Health (NIH) website, only about 200 have FDA-approved treatments. Individuals and families affected by rare diseases feel neglected by our nation’s healthcare system and often have to fight their own battles to obtain much needed treatment and services. Learn more about the patient journey with rare diseases from our infographic created in partnership with the Campaign for Modern Medicines and LillyPad.

Rare Disease Day brings both support and awareness for the 7,000 diseases that affect 30 million Americans.

Thank you to all who joined us for this important day!

Alone we are rare, together we are strong.

See more photos from the event here.