Spring 2017

NORD and Oregon State University sponsor “Rare Disease Support Study.”

  

What is the study about?

In partnership with the National Organization fo

r Rare Diseases, Oregon State University is releasing the first large-scale study about the information and psychosocial support needs of people living with rare disorders.

The purpose of this research study is to assess these needs from the perspectives of people living with a variety of rare disorders, to find similarities and differences across disorders. To ensure that results reflect the diversity of the rare disease community, it is crucial that as many people living with a rare disease as possible take part in the study.

Who is eligible to participate?

You must be an adult or the age of majority in your state, be able to communicate in English, and have a rare disease or disorder, or undiagnosed rare condition. Caregivers who do not have a rare disorder themselves are NOT eligible to participate at this time.

A disease is generally considered rare if it affects fewer than 200,000 individuals in the United States or fewer than
1 in 2,000 in Europe. A list of rare diseases can be found here: www.rarediseases.info.nih.gov/diseases/browse-by-first-letter.

Because rare disorders are discovered and prevalence estimates change frequently, you may participate even if your disorder does not appear on the list.

What would I do as a study participant?

There are two ways to participate.

  1. You can follow this link, www.bit.ly/2hWZLr2 to take a 40-minute online survey about your experiences and share your information and support needs related to your rare disorder (paper forms are available by request.) If it is physically difficult to respond, someone may enter your responses for you.
  2. During the survey, you can opt to sign up for a second study which involves an online focus group about the information and psychosocial support needs with others with rare disorders.

You must participate in the survey in order to be eligible for the focus group, but the focus group study is not required to participate in the survey.

You will be paid $20 for participating in the focus group.

What will OSU do with study findings?

OSU will send a summary of results to all participants. To help NORD, rare disorder organizations, and healthcare professionals meet the needs of people with rare disorders, results will be shared through reports, conference presentations, and scientific publications.

Sign up to participate! For more information, contact Kathleen Bogart, researcher, kathleen.bogart@oregonstate.edu or 541-737-1357.

 

First One-Day Conference in Fort Lauderdale breaks new ground for GBS|CIDP Foundation International

Dr. Ken Gorson, Chairman of the GBS|CIDP Foundation’s Global Medical Advisory Board, presenting on ‘Managing Residuals’ at Fort Lauderdale’s Regional Conference

Our biennial International Symposia has been a hallmark at GBS|CIDP Foundation International since its inception.
The 14th International Symposium held in San Antonio, TX, in September of 2016 drew a record attendance. The three-day event offered fun, fellowship, and was jam-packed with exciting presentations from many of the world’s most renown neurologists and healthcare professionals. “The best symposia ever,” we heard! Our members/patients know how important it is to have easy access to the most current information regarding their conditions. They also recognize the opportunity our symposia offer them to interact with knowledgeable healthcare professionals along with the many other individuals who struggle with the same rare conditions they do. Many have expressed that two-years is too long to wait for the opportunity to attend.
To address those concerns, and several others, GBS|CIDP Foundation International has introduced a series of geographically-diverse One-Day Conferences for 2017. The One-Day Conference format was implemented to be able to offer the same, high-quality, information as our biennial symposia, but on a regional basis and at three convenient locations across the country, Fort Lauderdale, FL, Baltimore, MD, and Chicago, IL.

The first conference, held on March 4 in Fort Lauderdale, FL, was well-attended and blended the expertise of our Global Medical Advisory Board with local resources. Of no surprise, attendees were quite outspoken about the high quality of the presentations and their ability to “meet old friends for the first time,” another GBS|CIDP Foundation International hallmark.

Our second and third conferences are scheduled for Saturday, May 6 at the Inner Harbor in Baltimore, MD, and on Saturday, September 23, in Schaumburg (Chicago,) IL.

Registration for Baltimore is OPEN! Click HERE to Register! 

If either of those locations are convenient for you, please join us! And, don’t forget to think ahead to November of 2018 and mark your calendars for our 15th International Symposium in San Diego, CA.

Healthcare Coverage and Access Community Update

by Dale Dirks and Dane Christiansen, Washington Representatives

The fundamental structure and scope of the US healthcare system, including access to various forms of insurance, networks of specialized physicians, and innovative treatment options, has been a hotly debated topic on Capitol Hill since the beginning of the year. The “repeal and replace” of Patient Protection and Affordable Care Act (ACA/Obamacare) was a popular campaign promise for the new Congress and the incoming administration. Lawmakers in the House and Senate have been searching for a way to move forward with such an effort since the 115th Congress convened on January 3rd.

The reality is that American healthcare is incredibly complicated and making changes to one part of the system often has an immediate domino effect as well as unintended consequences for other parts of the system. This complexity has greatly slowed the repeal and replace effort as lawmakers search for a path that addresses ongoing issues (such as the rising cost of premiums) while not creating additional or more serious issues. To be clear, the ACA has not been repealed and no one is at risk of losing their insurance coverage as a result of government action during 2017. In fact, the most highprofile proposal working through Congress is a technical repeal of the ACA that maintains the current system for two to three years (at least) while lawmakers work out the specific details of a replacement plan.

The ACA was by no means perfect, but it was a step in the right direction for patients and families facing rare, chronic, and costly medical conditions. While the law made vast changes across healthcare, it also contained narrow protections crafted specifically to prevent medical bankruptcy, involuntary medical divorce, and spending down to qualify for Medicaid. These patient protections are often overlooked in the broader debate, but they disproportionately benefit individuals and families affected by GBS, CIDP, MMN, and variants. The lack of a cohesive plan and strategy in Congress to reform healthcare has led to the proliferations of numerous, competing proposals. Rather than evaluate each proposal for its various individual merits and drawbacks (and none of them are currently patient- entered,) Congress simply needs to ensure any serious repeal, replace, or repair effort includes the following “four pillars” of patient protection.

In this regard, please consider reaching out to the offices of your Members of Congress, educating them about the unique needs of this community using your personal story, and asking them to support the pillars below. GBS|CIDP Foundation International can support and assist you in your outreach, and please contact Lisa Butler, Executive Director, lisa.butler@gbs-cidp.org, if you are interested in making your voice heard on this important issue. Your personal outreach is incredibly important and your legislators will welcome your input as they try to make difficult decisions.

Community message to Congress as lawmakers consider changes to healthcare:
• First and foremost, the community has the right to review any replacement plan and judge whether it adequately addresses the needs of patients before the current system is repealed. Do not repeal the ACA until the replacement plan has been vetted by stakeholders.

• Secondly, there are critical patient protections with bipartisan support that must be part of any modifications to the healthcare system. The following four pillars are absolutely essential to patients and their families, and must be included in any serious proposal moving forward.

• Pillar 1: Prohibit pre-existing condition discrimination. Individuals must be able to equitably access comprehensive healthcare coverage regardless of their health status, diagnosis, and/or related factors.

• Pillar 2: Prohibit lifetime and annual caps on insurance benefits. Any individual that purchases healthcare coverage must not be able to outspend that coverage and expose themselves to additional, unaffordable fees.

• Pillar 3: Allow children to stay on family coverage until age 26. Families with affected members face unique and serious financial challenges. Therefore, prolonged stability is essential.

• Pillar 4: Limit out-of-pocket costs for patients. Enacting and preserving no-nonsense restrictions that cap out-of-pocket costs is the best way to keep coverage equitable and accessible to everyone.

From the Director

Dear friends,

It is a bitter 18 degrees outside my window and the blustery wind has been tossing the falling snow into what looks like more of a blizzard. For those of us who actually “enjoy” snow and crisp winter days, I’m grateful for the winter wonderland in the vista before me.

I am also grateful for you, our faithful donors and partners who can turn even the coldest days into days of warm thoughts by sharing your stories with us here at GBS|CIDP Foundation International.

I’ve included several of these stories in this issue of The Communicator and I know you’ll find them as inspirational as I do. Stories of people like Brenda, an MMN survivor who came away from her recovery with a much deeper understanding of what support can mean when you need it most. And, Dick, a Liaison from Oregon whose life-mission is to be there for others who are experiencing what he had experienced years earlier.

2017 has begun with not only these blessings, but a host of others I am excited to share with you in this issue. So, grab a blanket. Curl up in your favorite chair, and read about everything that’s been happening at GBS|CIDP Foundation International.

Wishing you the warmest of greetings as we anticipate a year of great events.

Speaking of events, plan on joining us in Baltimore on May 6th, or in Chicago, later this year, for our One-Day Regional Meetings. And, keep checking our online Foundation events calendar for an upcoming Walk&Roll or chapter meeting happening near you.

Sincerely,

Lisa Butler

Executive Director

 

Brenda’s Story

One of the Lucky Ones.

by Brenda Perales

While my journey with Multifocal Motor Neuropathy (MMN) has been an emotional and sometimes frustrating one, I am definitely, “one of the lucky ones.”

At a long-overdue appointment with my regular doctor to discuss symptoms that I was sure were stemming from problems with my back and residual side effects from a broken leg he ordered blood work and an MRI which came back normal. As a result, he recommended I visit a local neurologist.

At that point I began to get really nervous… having a hard time understanding why I was to see a neurologist in the first place, and wondering what further testing might uncover. The neurologist said, “You don’t seem to fit neatly into any box,” and explained that his primary goal would be to rule out Amyotropic Lateral Sclerosis (ALS.) He encouraged me to seek an opinion from Dr. David Cornblath (a specialist in ALS, CIDP, and MMN) at Johns Hopkins University Hospital, in Baltimore.

The idea of having ALS can overwhelm anyone, and everything! I was beyond anxious at that point, and wondered, “How could this be happening to me?”

My scariest, and also most reassuring moment, happened while I laid still in my hospital bed at Hopkins. Dr. Cornblath’s tests showed “a lack of reflexes and very slow progression over a long period of time,” which caused him to say, “While many things point to ALS, I am not certain.” I remember covering my face with my hands and bursting into tears while my husband, Michael, sat at the end of the bed in stunned silence.

Dr. Cornblath ordered additional tests, and three months of observation. “ALS normally progresses,” he said, “but MMN usually does not.” We’ll see, we thought!

Fearful of a diagnosis of ALS, all I could think about over those last few months was if I would live to see my two sons graduate from high school, marry, and have kids. It all felt so overwhelming!

Fortunately, the tests returned normal—repeat examination had shown no real progression. Thus, Dr. Cornblath thought that a trial of IVIg might be useful.

Three days into IVIg treatment, Michael and I were at Costco when he turned to me and said, “I don’t hear you coming!” It took a minute to register what he actually said, then it hit me. My dropped left foot was not flopping and slapping on the floor! I was walking better, and, I had more strength.

Dr. Cornblath was the most surprised of all to see how well I responded to IVIg. A favorable response meant we could finally rule out ALS, and prompted my final diagnosis of MMN.

One year later, Dr. Cornblath suggested a switch from IVIg to SubQ. The transition took a few months, and never in a million years did I think I would be able to stick needles (albeit small thin ones) into my own body.

Saying I was a bit nervous would be an understatement!

Today, the positives of SubQ—which makes me feel close to normal again, or as I like to say, “my new normal,”—clearly outweigh the negatives of IVIg.

So, why do I think I was one of the lucky ones? Of course, not having ALS is at the top of the list. But, it is only one of many reasons:

  • Most people with MMN see about four or five different specialists before being diagnosed—I saw only one.
  • A lot of people with MMN are misdiagnosed as having ALS, but I was only under that terrifying cloud for a few months.
  • There are only a handful of neurologists that really understand, and specialize in MMN. I was referred to an amazing physician practicing at one of the finest medical institutions in the world, who is comfortable, and familiar with, the idea of prescribing SubQ. He worked with me until we got it right. He worked with my insurance company to insure coverage. He restored my quality of life and allowed me to regain my independence.
  • I am one of the 5% of people managing a rare disease that has an FDA-approved treatment.
  • Most importantly, along with my wonderful husband, Michael, I have a supportive and loving family and friends who are always here for me, including Cindy, my terrific at-home nurse, and all of my MMN Facebook

Three years after this whole ordeal began, I still wake up every day feeling incredibly thankful. So how could I not be “one of the lucky ones?”

Learn to solve the Rubik’s Cube with the easiest method, memorizing only six algorithms.