New Video Series Aims to Provide Visual Aid in Understanding ALS

ALS Hope Foundation is pleased to announce a brand new Educational Video Series! The goal of the series is to provide valuable educational tools for people with ALS (PALS) as well as their caregivers. The nine video series covers practical advice ranging from how to increase computer accessibility to advice for supporting nutrition. In one video, a staff member touts the benefits of using PEG (Percutaneous Endoscopic Gastrostomy) tubes to assist those who have difficulty eating. The video aims to provide a detailed explanation of the process, starting with when to consider a PEG tube to a demonstration of the physical device, followed by best practices for maintenance. The information is presented in an easy to understand format in a concise 8 minute video. The aim of the series is not to provide all possible data on the subject but to deliver easily accessible and relevant facts to help PALS and caregivers make informed decisions.

Other practical videos include splinting and seated leg exercises as well as facts regarding speaking and swallowing difficulties. The information in these videos is paramount to the Foundation’s goal to provide educational support. The videos are free and easily shared so that the public, as well as PALS and caregivers, can learn more about the disease and the steps taken to combat its effects.

To view the videos, follow this link. Remember to subscribe to our YouTube channel by hitting the red Subscribe button.

The beginning of a beneficial partnership: Inaugural Gala of Hope commemorates the ALS Clinic's move to Temple Health

ALS Hope Foundation's first annual Gala of Hope was a resounding success! Thank you to our PALS, friends, families and supporters who came out to the event. The evening began with a cocktail hour where guests chatted with friends old and new while enjoying delicious hors d'oeuvres. The party migrated into the ballroom where shimmering chandeliers and champagne-inspired decorations greeted guests as they took their seats. 

Dr. Terry Heiman-Patterson opened the evening by thanking MT Pharma for their generous sponsorship of the Gala as well as thanking Robert Rosti and Jean Hubble for attending the event on their behalf. She also extended a warm thanks to Temple Health for their new support of the MDA/ALS Clinic of Hope and the ALS laboratory. She stressed the importance of collaboration and teamwork in fighting ALS as working together is the only way to find a cause and cure for this devastating disease.

Dr. Patterson introduced our 2016 Season of Hope ambassador, Dr. Jeffrey Kramer, to speak about his experience with ALS. The speech was marked by Dr. Kramer's quiet strength and dignity in dealing with the disease. It took a great deal of courage to speak about such sensitive issues in front of a room full of people. We thank him again for sharing his story. 

Remarks from Dr. Ausim Azizi, Professor and Chair of the Department of Neurology at Temple University Hospital and Marissa Lozano, Associate Director of Family Support and Clinical Care from the Muscular Dystrophy Association followed. Collaboration and teamwork were the predominant themes; we appreciate their partnership and thank them for their generosity and dedication.

We cannot thank our guests enough for making an effort to attend this year's Gala. It gives us strength to know we have such passionate and thoughtful individuals supporting our PALS and ALS Hope Foundation. Together, we are keeping Hope on the Horizon!

Photos from the event can be viewed here. Keep an eye on our website for information about next year's event!

Dr terry heiman-patterson (left) poses with dr. jeffrey Kramer, 2016 season of hope ambassador.

Dr terry heiman-patterson (left) poses with dr. jeffrey Kramer, 2016 season of hope ambassador.

The 27th International Symposium on ALS/MND

The 27th International Symposium on ALS/MND was held in Dublin, Ireland this year.  Terry Heiman-Patterson, MD and Sara Feldman, DPT, ATP, spent the week with approximately 1200 scientists, clinicians, association members and PALS/CALS attending meetings, sessions, posters and presentations. This symposium is put on every year by the MND Association of England, Wales and Northern Ireland and was hosted this year by the Irish MND Association.

The week of meetings began December 4, 2016 when Chairwoman Carol Birks (MND Australia) opened the International Alliance of ALS/MND Associations meeting. The Alliance brings together ALS/MND organizations from around the globe.  The ALS Hope Foundation has been a member of this international group of ALS/MND organizations since about 2001. We are pleased to announce that Sara Feldman was re-elected to the Board of Directors for another three-year term. Follow this link to the Alliance website to read more about the meeting and the Alliance. 

The Ask the Experts event is held the second day of the meetings. This year’s panel included Dr. Jonathan Glass (Emory), Dr. Jeremy Shefner (Barrows) and Dr. Jan H. Veldink (Utrecht). Click here for the archived session.  Thanks to the ALS Association, this event was lived streamed so people unable to attend the conference were able to participate in the discussion.

This year, during the second day, the final judging of the Prize4Life and ALS Associations AT Challenge took place. Terry Heiman-Patterson was honored to be a member of the judging panel for this prize.  Click here to find out more about this challenge and find out who won!

Next, the Allied Professionals Forum was held on December 6, 2016. This is a day-long session developed for Allied Health Professionals and the ALS Hope Foundation is proud to be a sponsor again this year. Sara Feldman is co-chair along with Steve Bell (MND Association).    The presentations from the APF can be found here.

Last, but not least, the 27th International Symposium on ALS/MND took place on December 7-9, 2016. Sally Light (MND Association) opened the Symposium and IMNDA welcomed everyone in attendance. Dr. Heiman-Patterson was a member of the Scientific Review Board for this year’s conference and was on the abstract selection committee; Sara Feldman was on the judging panel for the clinical poster prize.

Dr. Heiman-Patterson presented 2 posters, “Evaluation of an ALS Staging System in a US Population,” and Understanding the Use of Noninvasive Ventilation in the Treatment of ALS: Results of an International Physician Survey.” Sara Feldman, PT, DPT, ATP, presented a poster with Peggy Allred, PT, DPT (Cedars-Sinai) on “Common Powered Mobility Components for the ALS/MND Population.”

Dr. Heiman-Patterson chaired the final session of the Symposium with Kevin Talbot (UK).

Next year, the 28th International Symposium on ALS/ MND will be held in Boston, Massachusetts and the ALS Hope Foundation will be co-hosting with ALS Therapy Development Institute.

The meetings were stimulating and inspiring; motivating and thought-provoking; encouraging and promising. Scientists, clinicians, associations, PALS, CALS, everyone was present and everyone participated in the conversation. We know that for PALS, time is limited and precious and we all feel the urgency. Know that at any given moment, someone, somewhere around the globe is working on better treatment, improved care, and to find a cure for ALS/MND. 

 

The Temple University MDA/ALS Center of Hope

 

Things are changing for the MDA/ALS Center of Hope! 

We are pleased to announce that on December 1, 2016 we will be moving to Temple University at the Lewis Katz School of Medicine. Temple University is committed to helping us to continue to provide the best care possible while raising the bar even higher.  To this end, Temple is helping to provide additional breadth to our program with clinic pulmonary services, genetic services, case management and counseling, and wellness programs to supplement our state of the art care. Of course we will continue to have physical and occupational therapy, speech therapy, nutrition, respiratory therapy, nursing, and DME. 

Our MDA colleagues and the ALS Hope Foundation staff will also be there to help support our clinic.  Everyone at Temple, as well as our team members, are excited about the move as we are certain it will enhance our ability to improve the care that we are able to deliver while continuing the friendly and warm feeling that we try to create during clinic visits. The MDA/ALS Center of Hope will be the first step in the development of a Neurodegenerative Disease Institute and our new partners at Temple are engaged and working hard to make it a success. We are looking forward to welcoming you to our new facility and will rely on your input to make our center jump to the next level.


The Temple University MDA/ALS Center of Hope will be located at:
 
Boyer Pavilion, 5th Floor
3509 N Broad St
Philadelphia, PA 19140
Convenient Valet Parking is available at the lobby of the Boyer Pavilion. 


The appointment number will be 215-707-3040

 

The discovery of two new ALS genes

 

Everyone is excited about the recent news that two new genes, NEK1 and C21orf2, were identified as susceptibility genes in ALS. This news adds to the growing sentiment among researchers that our genetic make-up plays an important role in who is at risk to develop ALS and that implicated genes can provide clues about what causes ALS as well as provide targets for treatment.

Familial ALS (FALS) cases comprise between 5-10% of all ALS and is generally a dominantly inherited disease, meaning that one of the individual’s parents passed on the abnormal gene. Remember that a gene contains the code for producing a particular protein and that the code is in the form of a series or sequence of building blocks called nucleotides.  A change in that sequence is called a polymorphism and some changes are not deleterious while other changes result in a damaged protein and are termed mutations.

Almost 20 % of people with FALS have a mutation in the gene that codes for the protein Cu/Zn superoxide dismutase located on chromosome 21. To date scientists have now identified more than 30 different genes that when mutated can either cause or increase the risk of developing ALS. In fact, the most common genetic cause of ALS is the abnormal extra chromosomal material in the C9orf72 gene, called a hexanucleotide repeat. This abnormality has been found not only in 23% of families with ALS but also in 5-7% of people with ALS and no family history -i.e. people with sporadic ALS.

NEK1 is the latest gene identified to show a specific variation from the normal sequence in upwards of 3% of people living with ALS. What is most exciting is that this abnormality was identified through a world-wide collaboration of scientists collecting genetic material (DNA) and sequencing the entire genome (all of the genetic material from each individual) from more than 1000 familial cases of ALS. Additional examination of more than 13,000 sporadic ALS individuals also revealed an increased percentage of people with the same specific variation in the NEK1 sequence when compared to normal controls.   This variation in the sequence would result in a possible loss of function in the NEK1 gene. NEK1 plays many roles in the cell, some of which have been implicated as a cause of neuronal damage in ALS including a role in the cytoskeleton which is important to transport in the nerve cells, regulation of membranes of mitochondria important in energy production, and a role in DNA repair.

It is clear that as we identify more and more of these variations in “susceptibility” genes, we will gain a better understanding about the pathways that are important for disease. Even more importantly we may be able to use these variations to stratify populations for individualizing therapies directed at particular pathways implicated by the genetic makeup of individuals with either sporadic or familial ALS. 

Read more about the newly discovered NEK1 and C21orf2 FALS genes from ProjectMinE, and find out more about this initiative started by PALS!        https://www.projectmine.com/news/

 

Highlights from RESNA 2016

 

RESNA (Rehabilitation Engineering and Assistive Technology Society of North America) and NCART (National Coalition for Assistive and Rehab Technology) held their 2016 Conference, Promoting Access to Assistive Technology, in Arlington Virginia this past week.  Sara Feldman, the Physical Therapist and Assistive Technology Professional at the MDA/ALS Center of Hope attended the conference and reported on her experience.

The week began with a full day Instructional Course given by Emma Smith, JumpStart Occupational Therapy, on “Access to Mobile Devices for Individuals with Physical Disabilities. This was a hands-on workshop where we were able to try the different options available in our own mobile devices as she presented them as well as try the adapters and switches she provided. This was one time when everyone was encouraged to play with his or her phone in class!

Pictures from Emma Smith's workshop

Pictures from Emma Smith's workshop

The next day brought the main conference, which has tracks focusing on different aspects of assistive technology, but every class seemed to have a mix of end users, clinicians, engineers, researchers, suppliers and manufactures. Many people carried more than one of those roles! The opening plenary session focused on “Research As the Keystone to Improving Assistive Technology.” The panel included Carla Bailo, from Ohio State University and ECOS Consulting; Ann Spungen, from Icahn School of Medicine at Mt. Sinai and the Veterans Administration; and Kenneth Ottenbacher,  from the University of Texas Medical Branch.

Next I attended the Accommodations Show and Tell, where different presenters show different accommodations or adaptations that they have recently made. It is a fast paced but genial environment for people to share their success stories. I pretty much just listened in amazement to some of them and with inspiration to others. One engineer from Puerto Rico designed his own switches and switch interface for the iPod from easily acquired items; Therese Willkomm (via video) presented several “homemade” mounts to hold devices on the wheelchair or tabletop; and two different apps in development were shown, one for home accessibility and one for multiple alarms. There were two other interesting presentations on specific work accommodations.

The next session was from Steven Mitchell, Cleveland VA Medical Center, “Using Ice Cubes to Make Snowflakes: Addressing Power Mobility Needs in ALS Using Common Configurations” was relevant and he had some good points to consider. In his experience, he saw many individuals with ALS for PWC evaluations and noticed a pattern in certain modifications he requested in head and arm supports. He now asks his vendors to supply these items earlier on in the evaluation and fitting process.

A Town Hall type meeting on the issue of Complex Rehab Technology ended the day. Too many stories were told of people with disabilities not being able to access the assistive technology they need due to CMS and insurance providers. Frustration was expressed by the end users as CMS has seemed to taken them completely out of the picture; frustration from the clinicians who are trying to prescribe the most appropriate equipment but are facing denials; frustration from the suppliers as they are feeling pressure from their clients to get the equipment and from their billing department to wait until the approvals come through; and frustration from the engineers and manufacturers who watch as their products and designs that can make such a difference in a person’s life go unused. There was a contingent going to speak to the legislature on Thursday and express their concerns. Everyone was encouraged to continue to reach out to their local representatives.

Wednesday morning’s Plenary Session, “Advancing Policies that Improve Access to Assistive Technology,” revealed a panel of federal officials and Washington based policy experts. John Wren, is the Deputy Administrator for the Center for Integrated Programs within the Administration for Community Living; Jennifer Sheehy is the Deputy Assistant Secretary of the Office of Disability Employment Policy in the US Department of Labor; John Tschida is the Director of the National Institute on Disability, Independent Living, and Rehabilitation Research; Peter Thomas is a principal with Powers, Pyles, Sutter and Verville, a Washington DC based law firm.  Each expressed their own personal experience living with a disability as a part of their presentation. The first three gave an overview of what their agencies were doing to advance policies in regard to assistive technology, but Mr. Thomas’s tone was not as confident in the federal government. His comments brought several rounds of applause in support when he expressed the thoughts of many that the rules governing appropriate access to AT are “ridiculous.” “DME (durable medical equipment) has been cut to the bone and we have to push back.” There was some discussion on how this gets done, and it came down to the constituents letting their legislators know how they feel. “Lots of volume and loud voices make change.”

The next session was a fun demonstration on the work out of Craig Hospital on making video games accessible for individuals with disabilities. The presenters, Erin Muston-Firsch, OT and Patrick Wagner, RET, were a great team and showed us the spectrum of options including changes you can make within some games operating system; modifications or additions to the users current controls; adaptive controls you can purchase; and some of the custom devices they have fabricated for their clients.  While gaming does not often come up in my experience, ability to control access to entertainment systems does, so I found this session both informative and entertaining. 

Next, the Communication Technology and Computer Access group hosted a session to “share solutions and ignite ideas.” And it did just that! The hour and a half was packed with information about exciting new technologies that people wanted to share. The highlights for me included a platform built of what looked like modern-day erector set, Servocity.com, that would move a Quadjoy mouse into position for someone with quadriplegia; the GlassOuse Assistive Device head mouse that moves the cursor with the movement of your head and clicks by biting on a switch; TobiiDynavox’s communication software now has a dwell free keyboard that works like Swype, allowing the user to type without dwelling on each letter individually; a “face switch” using the regular webcam  and using the Xbox sensor; other options for mounts from Octa; adaptations to your power port that will turn it into a USP port, Startech.com, or add the magnetic force to make it easier to attach, magnetic lightening, Geepin.net.

The final presentation of the day was from the United Spinal Association about their advocacy work and we were all encouraged again to contact our representatives. Their website offers more information about their work and the issues facing many people with disabilities including PALS.

Thursday morning began with an excellent presentation about new ideas in access to AAC technologies for people who have minimal movement. Melanie Fried-Oken from Oregon University, Susan Fager from Madonna Rehab and Tom Jakobs from Invotek presented together. They described their work with the brain computer interface they are researching at Oregon University which presents the letter choices in a novel way; on the use of multiple access methods for AT, of interest because this is what so many PALS encounter as the ALS progresses; and finally on the SmartPredictor App which allows caregivers to assist communication by enhancing the word prediction in the users system, so the user is still the primary communicator and the caregiver is providing assistance behind the scenes. Hearing how passionate they are and how collaborative their work is was a great way to start the day!

We then came back together as a large group to address the issues around outcome measures for assistive technology use. This issue is front and center at RESNA as evidence based practice is leading us toward collecting data on users of AT. The barriers to collecting this data as well as the opportunities for collecting relevant information discussed. All of the attendees input was collected and we expect to hear more on this topic soon.

Blue Sky designs then demonstrated their power mounts which will allow the user to position and reposition their AT (computer, communication device, camera, etc…) with an app or a switch. Their designs are in prototype at this time, but the usefulness of this type of mount was evident to all of us right away!

Permobil then demonstrated their app, the Virtual Seating Coach, designed to assist power wheelchair users with implementing and tracking their repositioning goals throughout the day.

The overall mood of the conference was positive and upbeat with true excitement about the innovations people were hearing about and the amazing technology available. There was however an undercurrent of dismay at the inability for the government, universities and insurers to understand the importance of assistive technology. AT is not being paid for, programs are being cut, equipment is being farmed out to the lowest bidder, and education for health professionals is not supported.  Despite our concerns over these issues, there is a determination to continue to provide individuals with assistive technology and resources they need to use it. 

 

Dr. Stephen Senderoff: A friend from the beginning.

 

Dr. Stephen Senderoff was a strong supporter of the  ALS Hope Foundation and the MDA/ALS Center of Hope from the very beginning. He was a brilliant research scientist and accomplished musician. Over his 20 year battle with ALS, Stephen managed to put on on many events like "A Concert for Hope" at the Kimmel Center in 2010 for the benefit of the ALS Hope Foundation. We send our condolences to his wife  Patricia and his family. He was one of our Courage Heart recipients in 2013  because of his proactive  role in the fight against ALS, advocating for PALS and supporting the ALS Hope Foundation while courageously battling ALS himself.

"When a disease is curable, most doctors can administer the cure. When a disease has no cure, no one can cure you. But you can heal. The team led by Dr. Terry Heiman-Patterson at the MDA/ALS Center of Hope are master healers. They heal the incurable, and bring light and hope into a place of frightening darkness."