Fighting to Save Olivia

NEWS Member of NEUROFIBROMATOSIS NORTHEAST Volume 27, No. 1 Promoting Research, Awareness and Advocacy since 1988 Fighting to Save Olivia Summer...
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Volume 27, No. 1

Promoting Research, Awareness and Advocacy since 1988

Fighting to Save Olivia

Summer 2015

Olivia was born in May 2012 without any complications, but she did have a few café au lait birth marks and as she got older Written by her mother, Heather Latham more appeared. After her pediatrician mentioned that they could be related to neurofibromatosis, I decided to have Livvy tested. Waiting for the test results was tortuous with the realization that the dreams for her life may not be what we had hoped and planned for. At 8 months old the diagnosis of NF was confirmed. Livvy was constantly ill with ear infections and vomiting, plus she had difficulty breathing and a very raspy voice. At 17 months old she went for her first ENT doctor’s appointment to find out if Following surgery tubes in her ears would help. During the appointment, 30% of the original the doctor discovered she had a growth in her airway. tumor remained, Livvy had surgery 10 days later only to find out that the and after waiting tumor was larger than they thought and further down in as long as the throat. Following surgery 30% of the original tumor possible, Livvy had remained, and after waiting as long as possible, Livvy to undergo a had to undergo a tracheotomy so she could breathe tracheotomy so better. Livvy’s tracheotomy requires vigilant supervision she could breathe and hygiene, and has necessitated her feedings to be better. delivered through a gastrostomy tube (g-tube). Olivia Latham Very recently, because of her situation, Livvy was the youngest participant to join a clinical trial run out of Indiana University, using the drug Gleevec. While Gleevec did not actually shrink Livvy’s tumor it may have bought her more time while other drug therapies become available. Livvy is doing a little better and has re-started her daycare program (always accompanied by a nurse) so she can be with her peers and build social skills. Her weight is beginning to stabilize and she is gaining weight in a healthy manner. Livvy also undergoes many weekly appointments for speech and feeding therapy and these forms of therapy 30th Anniversary Of Our First Event! have allowed her to regain her desire to eat and progress with her ability to speak. Livvy has a very complicated medical team as many of her systems are affected by NF. I have recently looked at many other options as the Gleevec continued on page 4

The International Golf Tournament

A charity golf tournament that is still going strong after 30 years is almost unheard of!  The NF Golf Tournament at the International GC stands out not only for its longevity, but also because it is one of the most highly regarded and successful events of its kind. One constant over the event’s 30 year span has been the unwavering support of the Presenting Sponsor, Grand Circle Travel. Honorary Chairpersons have been KC Jones, Tommy Heinsohn Founders of the Golf Tournament at The International and Dwight and Susan Evans. L to R in front: Jeff Twiss, KC Jones, Jeff Hollis more on page 3

Rear L to R: Bert Peluso, Karen Peluso, Paul Epstein, Harriet Lewis, Jimmy Rodgers, Barbara Hollis, Alan Lewis

NF Northeast News

A Message From the Chair of the Board of Directors

The mission of

Neurofibromatosis Northeast is to find treatments and the

cure for neurofibromatosis by

promoting scientific research, creating awareness, and

providing hope and support to those who are affected by NF.

Board of Directors

Lori Ryan, RN, MS, Chair Robert Ryan, Treasurer John Manth, Secretary John Driscoll David Eisenstadt Paul Epstein, DMD Henry Kay Melissa Malerba Cynthia Markey David Rokoff John Shea John Thomson, PhD Jessica Wolfe, PhD


Karen Peluso Executive Director

Paul Laurent Director of Development

Diana Flahive Director of Special Events

Linda Yew Executive Associate and Patient Outreach Coordinator

Jennifer Brickley Development Associate .... Neurofibromatosis Northeast 9 Bedford Street Burlington, MA 01803 781-272-9936 [email protected]

Follow us online

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Commitment, Compassion and Collaboration. These are the cornerstones of NF Northeast!

Strong leadership has built a solid foundation over the years from which the organization is poised to take advantage of new opportunities and successes!

Recently being elected Chair of the Board of Directors is an honor. My first connection with NF Northeast was 13 years ago as a parent reaching out to the organization for information and support. Now that I have been a member of the Board of Directors for over 8 years, served as Chair of the Medical and Science Committee and sat on the Lori Ryan, RN, MS Strategic Planning Committee, I have a clear understanding of where the organization has been, where it is today and where it should be tomorrow. NF Northeast is emerging as an increasingly powerful player within the life sciences/biotech field and is highly regarded as a national leader in advocacy, awareness and patient support. In recent months, NF Northeast staff and representatives have been invited to raise awareness and understanding of neurofibromatosis to a wider audience by participating in panel discussions at the State House as well as making presentations to venture capital companies who are specifically looking at rare diseases. The Board of Directors is fully committed and we have welcomed three new directors (profiled on the opposite page) to help lead the momentum of growth and success.

Going forward, it will be important to expand across several areas, including broadening our presence in the Northeast region, increasing the Medical & Science Committee activities, including awarding more research grants, continuing to provide educational and family/patient support opportunities, and NF advocacy.

We will increase collaboration between NF organizations, biotech and pharmaceutical companies, academia, federal entities, such as the National Institutes of Health, Department of Defense, Food and Drug Administration, and other rare disease organizations where a combined voice is more powerful than a singular one. My sincere thanks to all of our volunteers and committee members - the organization would not operate without you! Events large and small have fueled the organization and strengthened the NF community. An example of the commitment of our volunteers is the International Golf Tournament, NF Northeast’s largest and longest standing fundraiser, which celebrates its 30 year anniversary this year!

Please come take part in an event, volunteer at another and help us grow the organization further. There is much to be done as we strive for treatments and a cure for neurofibromatosis and I ask for your continued support in making that goal a reality!

NF Northeast News

Organization News

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Introducing Three Newly Elected Board Members

Cynthia Markey is Legal Counsel to the Chief Justice of the Boston Municipal Court Department and serves as a Hearing Officer for the Board of Bar Overseers. She is a member of the Supreme Judicial Court’s Media Advisory Committee and is a civil litiCynthia Robinson Markey gator in personal injury and insurance defense. Cynthia serves on the Boston Youth Symphony Orchestra’s Board of Directors and is a cum laude graduate of Wheaton College and JD from Notre Dame Law School.

Honoring Paul Epstein, DMD

John Shea has a 30+ year career in running health systems and has served in senior roles, including CFO and CEO positions in major hospitals in a number of states. John holds CPA status with the American Institute of Certified Public Accountants and Massachusetts Society of Certified Public Accountants and has an MBA from New Hampshire College and a BS, Accounting from Bentley College.

John T. Shea

John Thomson, PhD, joined Vertex Pharmaceuticals in 1989 as a founding scientist and held senior positions in research and drug development. He contributed to a broad array of research programs in areas of immunoregulation, inflammation, anti-infectives, oncology, neurological dysfunction and cystic John A. Thomson, PhD fibrosis research, and was involved in countless new-project and/or technology exploration initiatives. Dr. Thomson received a BSc (Hons.) and a PhD in biochemistry from the University of Melbourne, in Melbourne, Australia.

Newest NF Northeast Staff Member Paul Epstein and NFNE Executive Director, Karen Peluso

In recognition of his unwavering commitment to the mission of NF Northeast, Paul Epstein was presented a citation from Massachusetts Governor Charles Baker. Paul is past Chair of the Board of Directors and served for twenty years as Committee Chair of the International Golf Tournament. Paul has received numerous honors from the NF Community and in 2005 an NF research grant was created in his name.

A milestone for NF Northeast’s First Event

Steve Picardi has been the Chairperson of the International Golf Committee for the past ten years. Under his leadership the committee has continued to meet the challenge of attracting new sponsors and increasing participation. For the 30th Anniversary they set their sites on securing 30 sponsors, and they Steve Picardi far exceeded their goal! Kudos to Steve and his dedicated committee.

Neurofibromatosis Northeast is pleased to announce that Diana E. Flahive has been appointed Director of Special Events. Diana is charged with leading and growing NF Northeast’s special events program at a pivotal point in the organization’s history. She brings to the role significant development events experience and Diana Flahive a passion for health care. Diana comes to NF Northeast from Lahey Health where she was Associate Director of Special Events & Projects. In that role, she was responsible for the planning and management of some of the health system’s largest events. Previously, she spent many years working with the affiliates of Partners Healthcare, consulting and implementing a magnitude of successful fundraising events. Diana holds a BA in Organizational Communications from Northeastern University and an MA in Communications Management from Simmons College. International Golf Tournament Committee

Steve Picardi, Chairperson Toby Ahern Paul Epstein Sandy Pegram Maria DeFrancesco Bob Goodwin Ken Reagan John Driscoll Arthur Katz Chris Reisner

NF Northeast News

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Leading NF Advocacy and Promoting Federally Funded Research

In keeping with a tradition that began in 1996, advocates from NF Northeast were undaunted as they travelled to DC in February as yet another winter storm blew in! They joined others from around the country to make a record number of visits to Congressional offices seeking support of NF research through the DOD’s Congressionally Directed Medical Research Program (CDMRP) and Report Language in the Labor HHS Bill encouraging NF research at the National Institutes of Health. Once again Senator Edward Markey of Massachusetts led the SenThe NF Advocacy Team from the Northeast ate Dear Colleague letter and Luis Gutierrez of Illinois led the House letter. NF patients and their families sprang into action by writing to their Senators and Representatives urging them to sign on to the letter. And, their voices were heard! As this newsletter goes to print the House has appropriated $15 million for NF for the CDMRP and the Senate has voted and approved the following Report Language encouraging NF Research at NIH: Report Language in the Senate Labor, Health and Human Services, and Education Appropriations Bill To the National Institutes of Health - Office of the Director

The Committee supports efforts to enhance funding for Neurofibromatosis research at multiple NIH Institutes, including NCI, NINDS, NIDCD, NHLBI, NICHD and NEI. Children and adults with NF are at significant risk for the development of many forms of cancer; the Committee encourages NCI to continue its NF research efforts in fundamental basic science, translational research and clinical trials focused on NF. The Committee also encourages the NCI to continue to support the development of NF preclinical mouse models and NF-associated tumor sequencing efforts. Since NF2 accounts for approximately 5 percent of genetic forms of deafness, and NF1 can cause vision loss due to optic gliomas, the Committee encourages NIDCD and NEI to expand its investment in NF1 and NF2 basic and clinical research.

trial was coming to an end, finding myself in a panic on a daily basis to what the next steps in her care should be. Wondering when another trial would open? Would there be one to best suit her? Should we do more surgeries? All the what if’s... Like any parent, I am just looking to give my daughter the best possible life. Most days are filled with fear of making bad decisions for her, so I research as much as I can and try my best to keep informed. One meeting with a surgeon nearly put me into total panic as he talked about doing a total laryngectomy. How could this be? Most days are Was the tumor really growing that fast? Why would we do this?? After I mopped myself off the filled with fear of floor my gut feeling was - no we are not doing this, not now - not ever! I will keep fighting for my making bad child, fighting to help find more medical treatments and a cure. decisions for her, I have organized a new team at Boston Children’s Hospital where she has a primary Oncologist so I research as and a new surgeon. The team will be getting together shortly to look at the results of the much as I can and Gleevec trial. try my best We do have approval through my private insurance to start off-label use of a MEK inhibitor drug to keep informed. called trametinib. After the team meeting we will come up with a plan that best suits Livvy. My only hope is to buy more time as many more MEK inhibitor type drugs are getting closer for trial approvals. Livvy is a very smart little girl and continues to amaze everyone with how well she is progressing cognitively. She is such a happy girl who is the highlight of so many people’s day and despite what she faces makes everyone realize how precious life is and how to love life through any challenge. Olivia continued from page 1

How Will You Make a Difference?

With help from NF Northeast, Livvy and her mother have been welcomed into a community of support and resources. Your generosity allows us to continue the fight to make a brighter future for children like Livvy. Won’t you please make a donation today to NF Northeast? Most importantly, your donation will be matched by an anonymous donor, doubling the impact.

Now is the chance to


your giving impact! Your gift will be matched!

NF Northeast News

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NF Patients - do you attend an NF Clinic?

When NF patients or their families contact the NF Northeast office to request referrals to NF specialists we encourage them to contact an NF Clinic. In the Northeast we are fortunate to have two NF Clinics in Boston and four in New York (listed below). We urge patients to enroll in one of the clinics even if it involves traveling a great distance. Once a diagnosis has been established, doctors will work with you and family members to develop a personalized treatment or monitoring plan. If you choose to have follow-up care with your primary care physician, they will provide him or her with specific information for tracking and managing your symptoms going forward. Other advantages to participating in an NF Clinical Program: Access to medical and surgical specialists knowledgeable of NF Diagnostic evaluation Physical and neurological examinations Ophthalmology examination Imaging studies (when indicated) NF Clinic Team at Boston Children’s Hospital Multidisciplinary coordinated care Comprehensive clinical and laboratory services Multidisciplinary Neurofibromatosis Program Review of clinical and family history Clockwise from bottom left: Valerie Loik-Ramey, LauGenetic testing (when indicated) rie Derome, Dr. Gena Heidary, Dr. David Miller, Dr. Genetic counseling Nichole Ullrich, Caroline McGowan, MS, Dr. Martinez Potential for enrollment in clinical trials Ojeda. Not pictured - Dr. Emily Gertsch & Meredith

Massachusetts General Hospital Neurofibromatosis Clinic

Providing comprehensive care for adults and children who have been diagnosed with, or are at risk for NF1, NF2 and schwannomatosis.

Left to right in the front row: Amanda Gordon, NP, Dr. Fawn Leigh, Mary Zwirner (social worker), Dr. Scott Plotkin. Back row: Mary O’Meara, RN, Dr. Justin Jordan, Vanessa Merker (research coordinator), Angie Bartolomeo (scheduler), Maria Sanchez (medical assistant).

NF Clinics in New York

The Neurofibromatosis Center at Montefiore Medical Center/Children's Hospital at Montefiore, Bronx, New York

New York Presbyterian Children's Hospital - Columbia University Medical Center Division of Human Genetics, New York, NY The Comprehensive Neurofibromatosis Center at NYU Langone Medical Center, New York, NY Neurofibromatosis Clinic at University of Rochester Medical Center, Rochester, NY

Chambers M.Ed

NF Research Opportunity Anyone can help!

The laboratory of James Gusella, PhD at Massachusetts General Hospital is looking for individuals of all ages with a diagnosis of neurofibromatosis, schwannomatosis, an NFlike disorder or a related symptom, their family members and adult healthy controls to donate tissue and medical history information to an NF bank. Taking part involves a one-time blood draw, review of your medical and family histories, and donation of excess tissue from any NF-related surgeries. Adults and teenagers will have the option to participate in a skin biopsy that will be performed by a medical doctor. Study participation is voluntary and requires less than one hour of your time.Travel to MGH is not required, and all costs associated with the blood draw and collection of tissue from surgery will be reimbursed. If you are interested in hearing more about this research tissue bank, please contact the NF Research Coordinator by telephone at 617724-2365 or 1-800-956-6759.

NF Northeast News

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2015 Scholarship Recipients

NF Northeast’s Scholarship Program was established with funds raised at Steps2Cure NF walks and road races. The scholarships assist persons with NF to continue their education after high school and pursue undergraduate degrees. The annual application deadline is April 15th. More information about the program is available at

Brittany Richards From MA, will attend University of Hartford

Increasing Awareness of NF

Dylan Flores From NY, will attend Syracuse University

Cara Guerin From CT, attending Marist College

Mike Kearns From MA, will attend Framingham State University

Rebecca Townsend From CT, will attend Notre Dame

Emily Spore From NH, attending Granite State College

Anthony Richardson From CT, will attend Kings College

Governors in the northeast signed proclamations declaring May as NF Awareness Month. Some were available to meet with NF families from their state to learn more about NF and to show their support.

Peter Shumlin, Governor of Vermont

New Hampshire Governor Maggie Hassan

The Mass BioTech Council sponsored a panel discussion: “Taking Stock of Rare Disease Research Today & Tomorrow”

Panelists: Norman Barton, MD, PhD, Vice President, Clinical Development, Shire Ed Kaye, MD, Senior Vice President, Chief Medical Officer, Sarepta Therapeutics Karen Peluso, Executive Director, Neurofibromatosis Northeast Steve Uden MD, Senior Vice President, Research, Alexion Pharmaceuticals

Rare Disease Day

at the Massachusetts State House

Megan Duff, joined by her father John, told her story as a patient living with NF1

NF Northeast News

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Making a difference in the fight to cure NF...

Table for TEN is always a great way to shake off the winter blues and on April 1st Boston media personality Jenny Johnson and restaurateur Steve DiFillippo did just that! Over twenty-five of Boston’s finest restaurants joined in to support NF.

Run4Leah at the Buffalo Marathon Hundreds of runners and volunteers turned out in a show of support for the Manth family’s 8th Annual fundraiser for NF2 research.

Volunteer, Hillary Cohen (r) and NFNE Development Associate Jenn Brickley coordinated another Alex and Ani event to benefit NF. Thanks to those who attended or called in!

Chick Renfrew (in center), USPTA Director of Tennis at Marion Indoor Tennis Club ran a tennis tournament for NF in honor of Caden Spirito.

The Albany All Stars Roller Derby raised funds for NF at their weekly bout.

Look for the New England BioLabs logo on NF Northeast’s running shirts and cycling jerseys. They are our first annual multi-event sponsor!

Congratulations to our volunteer event organizers, Amanda Metott and Melissa Choquette on another successful Steps2Cure NF Walk in Camden, NY.

No Steps2Cure NF walk in your area?

Why not start one?

Boston Marathon

Meghan Kavanaugh ran the marathon in memory of her cousin Amanda Witzig who recently passed away due to NF. The following is what Meghan wrote on her fundraising page:

I’m honored to be running the 2015 Boston Marathon for Team NF in memory of my cousin, Amanda and Meghan Amanda Witzig. Amanda was 23 years old when she passed away in August. She battled Neurofibromatosis throughout her entire life and was a two-time brain tumor survivor (not to mention a UNH grad, loving daughter to Bill and Joanne, great big sister to Sarah and Matthew, and best friend to yellow lab Molly) before developing complications from a brain stem glioma. I think I can speak for my entire family in saying we have never seen bravery like we saw in that hospital room, with Amanda smiling and giving us thumbs up every single day she was there. It is a testament to Amanda’s strength and endlessly optimistic attitude that I grew up not knowing how serious NF is – that it is a genetic disorder that causes tumors to form on nerves throughout the body (in her case, in the brain), that it affects more than 2 million people worldwide. But now that I do, I want to do what I can to help – to try to keep other families from having to say goodbye so soon. Running 26.2 miles is something I have to do on my own, but meeting (and hopefully exceeding!) my goal to raise $5,000 for NF Northeast is something I can only do with your help. I appreciate you taking the time to read this, and for giving what you can to this cause. Let’s do it for Amanda!

Note: Meghan far exceeded her fundraising goal and raised over $13,000!

Congratulations to NF’s Boston Marathon team! They all finished the marathon in spite of extremely challenging weather conditions and did a great job fundraising! We can’t thank them enough for making that huge commitment along with many months of training.

9 Bedford Street Burlington, MA 01803 NEUROFIBROMATOSIS NORTHEAST

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Upcoming Events

NF Team Runs the Falmouth Road Race Sunday, August 16th

30th Annual NF Golf Tournament Monday, August 17th at The International in Bolton, MA

Coast to the Cure Bike Ride

Saturday, September 12th Stage Fort Park in Gloucester, MA

17th Annual Fall Golf Classic Tournament Monday, September 28th at the Four Oaks Country Club in Dracut, MA

2nd Annual Steps2Cure NF Walk/Run

Sunday, October 4th at The Crossings of Colonie, Loudonville, NY

9th Annual Steps2Cure NF Walk and 5K Run Sunday, October 18th at Lake Quannapowitt in Wakefield, MA

6th Annual Committed to Curing NF Saturday, November 14th at Anthony’s of Malden, MA

Information about events is on the NFNE website -