ALS Association of Greater New York

A 'Celebration of Life': Kathy's Story

noreply@blogger.com (ALSofGNY Blog) — Tue, 07 Feb 2012 15:17:00 +0000

by Rob Borkes

I'd like to share the story of my sister, Kathleen Borkes. Kathy was always everyone's angel; she led an extraordinary life of always caring for others before herself. Our mother, Dorothy, was diagnosed with ALS, back in the mid-90s and fell victim to it in 1997. Our father, George, and our grandmother would soon pass as well. She took care of them all for over ten years.

Kathy thought she finally had the chance to get her own life back. However, in the spring of 2010, after months of the 'bulbar' symptoms having surfaced she was also diagnosed with ALS. Ironically, she would now need the handicapped-ready house she bought for our parents for her own challenges - never complaining, just trying to do what she had to do to accept her condition as her strength diminished.

Shortly after her diagnosis Kathy wrote a thank you note to me, saying: “I struggled with why you had been given this tremendous burden of my illness and care. Why this? Why now? Not for us to ask. We just have to do our best and live life to the fullest!”

Kathy willed herself to stay with us for the college graduation of our nephew, Chris. As she miraculously got closer to her 50th birthday on October 4, 2011, I asked her one more time if she would be up to a family gathering.

Amazingly she said yes, even after having said to me: “Do you really think it would be a good idea? I know I am failing and everyone will be making another trip very shortly, for my funeral. I wouldn't want people to come out twice.”

The great part to this story is that she agreed to it anyway. She wanted to share her love for her family and friends that she had throughout her amazing life. Kathy was very specific that I was to design a card that didn't speak of her 50th birthday, but I was to call it her "Celebration of Life."

On October 8, 2011 the weather was perfect and the house quickly filled with those who meant so much to her. Even in her weakened state, she was able to visit with them all. The morning after, she sent an email to us that read: “I never felt so very loved! I left my room yesterday morning into a magical, beautiful wonderland of a home! Amazed, surprised, a warm fuzzy feeling!! Never thought I could feel that again... what an absolutely lovely day!”

A week later, we invited those who couldn't make it and other close support group friends from New Jersey. My amazing sister would pass away less than two weeks later. At peace, finally.

I am so grateful for the gift I received, the lessons I learned from Kathy through her acceptance, patience, and just the dignified way she lived her life. What I am trying to say is to celebrate the joy you have brought to others, even through these difficult times. You might be surprised just how much your family and friends want to tell you how much you mean to them and that they love you. "Celebrate your Extraordinary Lives!"

MODDERN Cures Act to Spur ALS Research

noreply@blogger.com (ALSofGNY Blog) — Sun, 29 Jan 2012 14:06:00 +0000


Patient Services Coordinator Debbie Schlossberg speaks on behalf of the Greater New York Chapter.

At a press conference last month in Westfield, NJ, U.S. Representative Leonard Lance (7th District) announced the introduction of the Modernizing Our Drug and Diagnostics Evaluation and Regulatory Network (MODDERN) Cures Act. This bill would remove barriers to scientific research, provide incentives to develop new diagnostics, and foster medical innovations in order to ultimately accelerate the search for an effective cure and treatment for rare diseases such as ALS.

Read about the conference on NJ.com by clicking here.

You can also read about the press conference on MyCentralJersey.com.

International ALS/MND Symposium Summary from ALS Association President/CEO Jane Gilbert

noreply@blogger.com (ALSofGNY Blog) — Sat, 14 Jan 2012 14:37:00 +0000

The International Symposium has come to a close here in Sydney, Australia. Some of you have asked about the value of these meetings, and I think this is a good question. There is a very straightforward answer: Clinical and scientific researchers as well as people living with the disease and their caregivers from around the globe attend this event. This year alone, more than 800 people attended the symposium, which allows those from the ALS community to have the opportunity to meet one another and talk personally about the efforts that are taking place worldwide to find treatments and a cure for this disease.

Two noted ALS researchers, Bryan Traynor, M.D. of the National Institute of Aging and Dr. Robert Bowser Ph.D. of University of Pittsburgh School of Medicine Department of Pathology, discuss topics that they have found of interest at this conference in these two videos: http://www.youtube.com/watch?v=DIf_XvUwjeY and http://www.youtube.com/watch?v=gjMlAPT7Ak0.

In the case of the scientists, they remain quite busy with their own projects. It would be impossible for one person to keep up with all of the fantastic research that is taking place globally. This symposium gives researchers the opportunity to hear what others are doing in the laboratory; such interactions often lead to enhanced partnerships and projects among different institutions and labs. Some of this year’s presentations in Sydney serve as wonderful examples of shared information and resources that have resulted in extremely important discoveries—not the least of which was the recent discovery about Chromosome 9 .

The abstracts and posters at the conference covered everything from non-invasive ventilation to nutrition and research on the mouse models. Other activities included talks on familial ALS as well as sporadic ALS and the pathways that might be a key to the disease. In short, these meetings bring the best of the best in ALS research and care together to discuss pertinent topics and learn from one another. Their passion is obvious, and their dedication extreme. In summary, these scientists and clinicians give us hope that there WILL be a treatment for ALS as we move ever closer to new discoveries.

Northeast ALS Consortium Launches A New Website

noreply@blogger.com (ALSofGNY Blog) — Fri, 13 Jan 2012 14:31:00 +0000

The Northeast ALS Consortium (NEALS) has launched their new website devoted to supporting clinical research of Amyotrophic Lateral Sclerosis (ALS) and other motor neuron disease (MND). The website, http://www.alsconsortium.org, supported by the ALS Therapy Alliance and The ALS Association, increases the availability, clarity, and accuracy of clinical research information for the ALS and MND community. To connect directly to the Basic Trial Search page, visit www.alsconsortium.org/search.php.

The new site includes a clinical trial database that is continuously monitored and updated by NEALS. The trial database, sourced from www.clinicaltrials.gov and other public sources, gives users a concise list of active ALS trials in the United States and select international trials. The database also allows users to search for specific trials by keyword, zip code, and eligibility factors.

Other new features of the website include:

A “find a disease specialist” feature which allows users to find clinics in their area that specialize in ALS, Primary Lateral Sclerosis (PLS), or Hereditary Spastic Paraplegia (HSP);
Clinical Trial 101 content with general information about the clinical research process;
And a clinical research blog dedicated to the advocacy of new clinical research in motor neuron disease written by ALS Association/NEALS Clinical Trial Advocates.

The website and clinical trial database are part of a larger effort by The ALS Association and NEALS to break down the barrier to clinical research information. The new ALS Association/ NEALS Trial Expert, Devon Punch, will support and manage the website and clinical trial database. Ms. Punch is available to help people with ALS/MND and their caregivers navigate the new website and answer questions about clinical research during normal business hours eastern standard time at (877) 458-0631 or alstrials@partners.org.

The Northeast ALS Consortium (NEALS) is an international, independent, non-profit group of researchers who collaboratively conduct clinical research in ALS and other motor neuron diseases. Their mission is to translate scientific advances into new treatments for people with ALS and MND as rapidly as possible. NEALS has over 100 member sites in the United States, Canada, Ireland, and Israel.

Olesoxime Phase III Trial Results Disappointing

noreply@blogger.com (ALSofGNY Blog) — Mon, 09 Jan 2012 18:00:00 +0000

Trophos SA has announced the results from the Phase III study of its lead compound, olesoxime, did not demonstrate a significant increase in survival versus placebo in 512 patients with ALS also receiving riluzole (Rilutek®).

The drug was well tolerated; however, it is believed that this outcome is most likely because in ALS the disease process is already so severe and rapidly progressing by the time of diagnosis that any further benefit of olesoxime over that of riluzole cannot be detected. This trend was measured by the ALSFRS-R functional rating scale.

“Although these results are disappointing, the ALS investigator community continues to test a variety of different approaches to treat ALS with several trials ongoing,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D. “The Association encourages people with ALS to continue to enroll in ALS trials with a hope that one or more will provide important discoveries and lead to effective treatments for the disease.”

For more information about this announcement, click here.

November 2011 "Ask the Experts" Forum from Sydney, Australia Available Online

noreply@blogger.com (ALSofGNY Blog) — Thu, 05 Jan 2012 18:16:00 +0000

If you could not make the 22nd International Symposium on ALS/MND’s live, streamed “Ask the Experts” session, it’s available online for your viewing.

Visit http://mnda.eventstreaming.tv/ to watch this Question and Answer session that took place on November 28 in Sydney, Australia. More than 250 health professionals as well as 100 online viewers attended this hour-long event.

To access the “Ask the Experts” video, you will need to enter your name, email address and the password “sydney,” all in lowercase letters. Click the “Login” button, then the “Ask the Experts Q & A” thumbnail below the main video display screen.

This video, along with other activities that took place during the symposium, will be available until January 1, 2012; however organizers are hoping to keep this link active until January 31. After that date, the video will be available on the MNDA Australia website at www.mndaust.asn.au.

The ALS Association thanks both MND Australia and the MND Association U.K. for making these videos available.

2012 – The Year Ahead

noreply@blogger.com (ALSofGNY Blog) — Thu, 29 Dec 2011 16:04:00 +0000

A New Year brings with it new opportunities, new experiences, and a chance to renew one’s commitment in the fight against ALS. There are many events The ALS Association Greater New York Chapter will embark on over the next year and many ways for you to participate. Here is some of what we have in store for 2012 (exact dates TBA):

• Walk to Defeat ALS Kick Offs
• New York City Walk to Defeat
• ALS Five Boro Bike Tour National
• ALS Advocacy Day
• Long Branch Walk to Defeat ALS
• Saddle Brook Walk to Defeat ALS
• Westchester Walk to Defeat ALS
• Long Island Walk to Defeat ALS
• Hudson Valley Walk to Defeat ALS
• New York City Marathon
• Lou Gehrig Sports Awards Benefit
• Young Professionals Group Fall Fundraiser
• Research Symposia
• Caregivers Seminar
• Memorial Service
• Supports Groups
• Children’s Day

A New Year is also a time to reflect on the year past and make resolutions for the coming year. We hope that you will continue your hard work in the fight against ALS and make that fight part of your New Year’s resolutions. Here are some resolution suggestions:

✓ Attend at least one our events.
✓ Bring a friend with me to at least one event.
✓ For PALS, enroll with the ALS Registry.
✓ Non-PALS, help enroll a PALS with the ALS Registry.
✓ Donate to research and patient services for The Greater NY Chapter.
✓ Write a letter to my Senator, Representative, State Legislator, or Council Member to advocate for ALS research and increased access to healthcare for PALS.
✓ Wear an ALS bracelet.
✓ Walk to Defeat ALS.
✓ Cheer on a Walker or Runner.
✓ Have an ALS bumper sticker for the car.
✓ Reconnect with an old friend and tell them about ALS
✓ Share, tweet, or post on Facebook about ALS.
✓ Organize a community fundraiser.

This is but some of what you can do in the fight against ALS in 2012. There’s so much more. Do one. Do many. But do something this year and together we can defeat ALS. Happy New Year!

Getting Started with Communication

noreply@blogger.com (ALSofGNY Blog) — Thu, 29 Dec 2011 13:35:00 +0000

by Ben Lieman

The eyes may be the window to the soul, but it sure helps to clarify with a voice, what we say with our eyes. There are options available when the voice is too soft or simply unable to be understood. This article will help explain the simple, low-tech options that are currently out there. There are also high-tech solutions that may be covered by insurance and Medicaid, and can be operated with minimal movement of hands, fingers, head, or even just eye-movement. An evaluation for this equipment is necessary, and we are happy to share information about this equipment, and where to obtain an evaluation.These High Tech options provide very good computerized voice output in English, Spanish, and other languages. They also enable computer and internet access, again with minimal body movement or even just eye movement.

But there are also simple solutions that can be set up with no or little technology. It won’t get you on the internet, but it will enable communication immediately. An involved listener is essential as these low-tech methods do not store messages for later use. Communication with this method is done in real time.

1) Communication Boards can be a sheet of paper, cardboard, lightweight plastic that has communication options on the page. Letters, or pre-printed words and phrases can be identified by pointing with a finger (or pointing object like a pen or wrist cuff). With letters, you can spell out anything. With words or statements, you can easily communicate a simple request (How are you?, Raise my leg, I’m thirsty, Who called?, etc.).

Communication boards can be obtained on-line (there are numerous options available) OR created with any word processing program. The key component is that the letters or messages on the communication board are easy to read, and differentiated by enough space so pointing does not need to be precise.

2) Laser Pointers (i.e. key chain or presentation) utilize a pinpoint light generated to point to the letters or messages on a pre-written communication board (see above). They can be velcro’ed to a head band or baseball cap, and highlight choices with small head movements. (Be sure to avoid pointing at someone's eyes.) Some small LED flashlights accomplish a similar effect with a narrow beam of light. The beam of light generated must be narrow (1 inch diameter or less) at a distance of 1-2 feet (where a communication board is held).

3) ETran Boards are transparent plastic boards with the same communications placed on both sides (communications can be letters or words/phrases). The board is placed between the communicator and the listener. While the communicator looks at a specific communication, the listener looks at the communicator’s eyes, to determine which communication they are looking at. A wide hole in the middle of the board allows both parties to easily see each other.

4) Eye-Link – Large block letters listed on a transparent sheet of plastic. Like the ETran board, the Eye-link is held between the communicator and the listener. As the communicator looks at a letter, the listener speaks which letter they think is being looked at. If correct, the communicator looks on to the next letter in the word they are spelling. If the listener is incorrect, the communicator continues to look at the letter for the listener to try again. Generally, the listener learns where the communicator is looking and spelling can occur at a good pace. CINI (Communication Independence for the Neurologically Impaired) sells these online – www.cini.org.

With a little patience, these methods can provide a good means of communication right away, while you consider or apply for higher tech solutions. If you have questions about any of these or other low- and high-tech forms of communication, please contact the Chapter office at (212) 619-1400 and ask for Ben Lieman, Assistive Technology Specialist.

VA Increases Minimum Rating for Veterans with ALS

noreply@blogger.com (ALSofGNY Blog) — Fri, 23 Dec 2011 05:52:00 +0000

We are thrilled to report that the U.S. Department of Veterans Affairs published regulations that would increase from 30% to 100% the minimum disability rating automatically provided to all veterans with ALS who qualify for service connected benefits! The rating would be provided regardless of the progression of the disease or whether or not a veteran is totally disabled at the time of their evaluation.

Because the disability rating is used to calculate monthly compensation payments and eligibility for other benefits, this means that veterans with ALS will begin to receive a higher level of benefits much sooner than they otherwise would under the existing regulations, which provide only a 30% minimum rating. It also means that veterans no longer will be forced to have their condition continually re-evaluated in order to receive a higher level of benefits as the disease progresses.

This is a tremendous victory for our military heroes with ALS! The regulation will speed access to benefits, decrease the burden on veterans and their families and help them to receive the compensation and benefits they need when they need them.

The ALS Association has strongly supported this regulation, which initially was proposed by the VA in June 2010. We submitted comments to the VA endorsing the proposal and have worked with both the VA and Members of Congress to implement it as soon as possible. You can read The ALS Association's comments here.

The text of the regulation is available here and additional details can be found in the initial "proposed rule" here.

Thank you to everyone who continues to tell the ALS story and raise awareness of the impact this disease has on our nation's military heroes. The implementation of this regulation is a vital step towards ensuring that our military heroes receive the benefits they need, deserve and have earned.

Visit our Wall of Honor here to read the stories of courage from veterans with ALS and their families. And if you are a veteran or family member, share your story on the Wall and help us continue to make a difference in the fight against ALS.

Additional details about this regulation, including effective dates and compensation rates as well as information on how to obtain assistance, are below.

Effective Dates

The regulation takes effect on January 19, 2012. It applies to applications for benefits that:

Are received by VA on or after January 19, 2012;
Were received by VA before January 19, 2012 but have not been decided by a VA regional office as of that date;
Are appealed to the Board of Veterans' Appeals on or after January 19, 2012;
Were appealed to the Board before January 19, 2012 but have not been decided by the Board as of that date; or
Are pending before VA on or after January 19, 2012 because the Court of Appeals for Veterans Claims vacated a Board decision on the application and remanded it for readjudication.

Increased Compensation

In addition to making it easier for veterans to receive a higher disability rating, the regulation increases the compensation immediately available to all veterans. Under the current rules, veterans qualify for a minimum of $389 per month in compensation if they are rated 30% disabled (the current minimum rating for ALS). Under the new regulation, they qualify for a minimum of $2,769 per month. Note that this is just the minimum level of compensation. Additional amounts are available based on a number of factors including whether or not a veteran is married or has children.

Special Monthly Compensation

The VA also will add language to the current regulations that recommend veterans with ALS be considered for special monthly compensation (SMC). SMC is available to veterans with significant disabilities (such as losing the use of a limb) and entitles them to the highest level of disability compensation, as much as $100,000 per year.

Additional information about VA's compensation rates is available on the VA website. Compensation Rates are here: http://www.vba.va.gov/bln/21/Rates/comp01.htm. Rates for Special Monthly Compensation are here: http://www.vba.va.gov/bln/21/Rates/comp02.htm.

Decreasing the Burden on Veterans

Currently, ALS carries a minimum rating of 30% disability. While veterans with ALS can be rated 100% and higher, those who are newly diagnosed or whose disease has not progressed significantly may receive a lower rating and therefore a lower amount in monthly compensation. As the disease progresses, they then must continuously be re-evaluated by the VA in order to receive the appropriate disability rating and appropriate level of compensation and benefits.

This process has created challenges for veterans and their families not only because it delays receipt of the highest level of benefits, but also because it requires veterans to repeatedly go through the reevaluation process, which can be time consuming and can include additional paperwork and travel for PALS to receive examinations by VA physicians. It also delays the awarding of benefits because the process the VA uses to provide a disability rating to a veteran can be the longest part of the claims process.

According to the regulation, "we determined that providing a 100-percent evaluation in all cases would obviate the need to reassess and reevaluate veterans with ALS repeatedly over a short period of time, as the condition worsens and inevitably and relentlessly progresses to total disability, and we proposed to increase the minimum evaluation for ALS to 100 percent."

Assistance and Information

The ALS Association's website also includes a section dedicated to assisting veterans, their families and survivors. The site, www.alsa.org/policy/veterans.cfm, has available a number of important resources, including answers to frequently asked questions, information about veterans benefits and compensation, and guidance on how to apply for veterans benefits and survivors benefits. The Association currently is in the process of updating the site to include this proposed rule and links to changes the VA has made to their website. However, if you have questions or would like assistance, please contact The ALS Association Greater New York Chapter

Congress Approves Over $12M in Additional ALS Funding

noreply@blogger.com (ALSofGNY Blog) — Mon, 19 Dec 2011 15:50:00 +0000

Congress approved legislation last week that provides an additional $6.4 million for the ALS Research Program (ALSRP) at the Department of Defense and almost $6 million more for the National ALS Registry. In a year when Congress sought to significantly cut or eliminate programs throughout the federal government, it is clear that finding the cause, treatment and cure for ALS is a priority for Congress.

These victories would not have happened without the outreach of people with ALS and their families throughout the year. Your efforts to tell the ALS story once again have made a difference and are why both of these critical research programs have received vital funding for 2012.

Thank you to everyone who reached out to Congress!

The funding for the Registry and ALSRP was included as part of a larger spending bill that also funds nine of the 12 annual appropriations bills. President Obama is expected to sign the legislation into law.

ALS Emergency Preparedness

noreply@blogger.com (ALSofGNY Blog) — Wed, 14 Dec 2011 03:25:00 +0000

Click here for a PDF version of the document to print out.

Share your advice with other in the comment section below.

ALS Emergency Preparedness

The ALS Association Greater New York Chapter

Tips For People With Communication Disabilities

Communication

Determine how you will communicate with emergency personnel if you do not have your communication devices (augmentative communication device, word board, artificial larynx).

Communication Aids

Store paper, writing materials, and copies of a word or letter board and preprinted key phrases specific to anticipated emergencies in all your emergency kits, your wallet, purse, etc.

Emergency Health Information Card

Make sure your emergency health information card explains the best method of communication for you (written notes, pointing to letters/words/pictures, finding a quiet place).

Alternate Power Source

Obtain an alternative power source (power converter, batteries) if you use a computer or laptop as a means of frequent communication

Checklist

________ Determine your ideal method of communication in the event of an emergency and be prepared to use it.

________ Store communication aids in all of your emergency kits.

________ Make an emergency health information card and be sure to include your communication needs.

________Store batteries or chargers for communication equipment

Tips For People With Life-Support Systems

Secure Equipment

Secure your life-support equipment to prevent damage from falling. If you use a chain, make sure it is welded (not bent)

Alternate Providers

Determine which facilities/providers can serve you if your home system becomes inoperable or your current provider is unable to assist you.

Alternate Power

Ask your vendor about alternative power sources that will sustain you for up to seven days.

Could you use manually-operated equipment?

Can your equipment be powered from a vehicle battery? If yes, obtain any hardware necessary for the hook-up.

Generators For all-day use over several days, a gasoline-powered generator is the preferred alternative power source. Test it periodically and operate it only in an open area to ensure good ventilation. If you store an adequate gasoline supply, make sure you do so safely. Keep a syphon kit on hand in case you need to obtain gasoline directly from your vehicle.

Some generators can be plugged into house wiring systems.

Consult your utility company before you do this.

Utility Company Registry

Many utility companies keep a list of names of people dependent on life-support systems and tag their meters. Registering for this service may qualify you for a discount rate; contact the customer service department for more information.

Never count on your power being quickly restored

Utility personnel may not be able to reach you right away after a major disaster.

Tips For People With Life-Support Systems - Part 2

Oxygen Users

Ask your provider if a reduced-flow rate may be used during a disaster to prolong the life of the system.
Record on your equipment the reduced flow numbers so you can refer to them.
Be aware of oxygen safety; avoid areas where gas leaks or open flames may be present.
Post "Oxygen in Use" signs.
Keep the shut-off switch for oxygen equipment near you so you can
get to it quickly in an emergency.

Test Backups Regularly

If your backup power system relies on batteries, be aware that stored batteries require periodic charging, even if they are unused. A charging routine must be strictly followed.
Test your alternative power equipment regularly to ensure it will function in an emergency.
Know the working duration of any batteries that support your system
Ask your power company about the type of backup power you plan to use and get their advice.

Utility Company Registry (Repeat)

Many utility companies keep a list of names of people dependent on life-support systems and tag their meters.
Registering for this service may qualify you for a discount rate; contact the customer service department for more information.

Never count on your power being quickly restored

Utility personnel may not be able to reach you right away after a major disaster.

Tips For People With Mobility Concerns

Storage

Store emergency supplies in a pack or backpack attached to your walker, wheelchair or scooter.
Store needed mobility aids (canes, crutches, walkers, wheelchairs) close to you in a consistent, convenient and secured location.
Keep extra aids in several locations, if available.

Emergency Kit

Keep a pair of heavy gloves in your supply kit to use while making your way over glass and debris.
If you use a motorized wheelchair or scooter, consider having an extra battery available. A car battery can be substituted, however, it will not last as long as a wheelchair's deep-cycle battery.
Ask your vendor if you can recharge your batteries (in the event of a power outage) by connecting jumper cables to a vehicle battery or using a special converter that plugs into your vehicle's cigarette lighter.
If you do not have puncture-proof tires, keep a patch kit or can of "seal-in-air" to repair flat tires and/or keep an extra supply of inner
tubes.
Store a lightweight, manual wheelchair if available.

Evacuation Plan for People in Wheelchairs

Arrange and secure furniture and other items to create barrier-free passages in your home and office.
If you spend time above the first floor of an elevator building, plan and practice using alternate methods of evacuation. If needed, enlist the help of your personal support network.
There will be instances where wheelchair users will have to leave their chairs behind in order to evacuate safely.
If you cannot use stairs, familiarize yourself with lifting and carrying techniques that will work for you.
Alert rescue personnel to any areas of vulnerability
For example, the traditional "fire fighter's carry" may be hazardous
for people with respiratory weakness.
You need to be able to give brief instructions regarding how to move you.

Have a “go” bag

Can be used for evacuation or in the event of unexpectedly going to the hospital.
Medications and list of meds
Health form
Copies of insurance cards
Communication board
Liquid nutrition/feeding tube supplies
Glasses
Cash/travelers checks
Important family documents such as copies of insurance policies, identification and bank account records in a waterproof, portable container.
Call bell

Home Safety—Fire and Natural Disasters

Call your local fire department and report to them that a disabled person resides in your home.
In the event of an emergency, the 911 system would have a “disability notice” that would alert the responders that a person living at that residence either moves slowly, cannot get out of the house unassisted, or is confined to a second (or higher) floor of the house.
Ask your local fire department if they have any personnel or volunteers that could come to your home to work with them and their family on an evacuation plan in the event of an emergency.
Stress the importance of smoke detectors (and carbon monoxide detectors).
Have an evacuation plan for not only in the event of a fire, but also a natural weather emergency.

Tips for PALS for the Holiday Season

noreply@blogger.com (ALSofGNY Blog) — Mon, 28 Nov 2011 17:43:00 +0000

Holidays can often be a stressful time. We know shopping, visiting, and other holiday activities may not be so easy for those with ALS and their loved ones.

Try keeping it simple. If you like to have decorations, rather than putting up a lot of little things -why not just place a nice large wreath on the door. Whatever holiday you celebrate, think of one significant item you would enjoy (for example, if you are celebrating Christmas or Chanukah, how about a nice simple tree or menorah?)

If you have always traveled for the holidays but don't feel up to it this year, ask your family and friends to come see you instead. Have a holiday pot-luck meal rather than a formal sit-down dinner. Use papers goods, rather than china. Remember the holidays are about spending time with the people you love, not about the plates you use.

If you can't get out to shop for gifts, buy gifts online or tell friends and family you would like to do a grab-bag style gift exchange this year. You can have everyone bring a gift card (determine an amount beforehand) when you get together everyone gets to choose a card!

If food is a challenge try some of these easy to manage foods: custards, applesauce, sherbets, puddings, yogurt, French toast, soft fruit, eggs, casseroles, milk shakes, mashed potatoes, gelatins, thick soups, pasta with sauce.

Sample Holiday Menu For PALS

To print out the recipes as a PDF, please click here.

Breakfast: French Toast - Yield: 5 servings

Ingredients: 4 eggs, lightly beaten; 1/2 cup whole milk; 1/8 tsp cinnamon; 10 1-inch thick slices of French bread; garnish; butter, maple syrup, powdered sugar.

Directions: 1) In a shallow bowl beat together eggs, milk, and cinnamon, 2) Dip bread into egg mixture; coating both sides; (soak for 30 seconds on each side), 3) In a skillet melt 1 tbs butter & cook the bread on both sides over medium heat for 2-3 minutes on each side or until golden, 4) Serve with butter, syrup, powered sugar.

Lunch: Creamy Tomato Soup - Yield: 2 servings

Ingredients: 1 cup whole milk or cream; 1 can (10-3/4 oz.) condensed tomato soup; 1/4 cup water.

Directions: 1) Combine all ingredients in a saucepan, 2) Heat until warm, 3) Pour into bowls & serve, 4) Top with grated cheddar or mozzarella cheese.

Dinner: Comfort Meatloaf - Yield: 4 servings

Ingredients: 1 pound ground beef; 3/4 - 1 cup plain fine bread-crumbs; 3 tbs dried onion flakes, 1 tsp salt; 1 heaping tsp dried parsley; 1/4 tsp black pepper; 1/8 tsp Bell's poultry seasoning; 1/8 cup ketchup; 1 egg; milk.

Directions: 1) Mix ground beef & bread-crumbs in large bowl, 2) Mix seasonings, ketchup & egg into beef & crumb mixture, 3) Add enough milk to bind it all together & mix until homogeneous consistency, 4) Spray loaf pan with cooking spray, 5) Put meat mixture in loaf pan, 6) Bake at 350 degrees for about 45 minutes or until cooked through.

Dessert: Vanilla Pudding Parfait - Yield: 4 servings

Ingredients: 1 tub of vanilla pudding (preferably use products without preservatives); 2 tbsp of strawberry preserves; cream or whipped topping

Directions: Layer into dessert cups alternating pudding, preserves, and cream. Top with cream or whipped topping.

For more information about nutrition or to get more recipes, please call The ALS Association Greater New York Chapter at (212) 619-1400.

Have a recipes of your own to share? Use the comment section below to submit your own holiday recipes.

PALS on Dr. Oz Show About Dying With Dignity

noreply@blogger.com (ALSofGNY Blog) — Mon, 07 Nov 2011 04:13:00 +0000

On November 1, 2011 a very thought-provoking episode of the Dr. Oz Show aired regarding dying with dignity and physician assisted suicide. As part of that touching episode, Dr. Oz spoke in-depth with Dana Wright, a patient of The ALS Association Greater New York Chapter and her family. Along with featuring Dana, Dr. Oz spoke with Montel Williams, who suffers from MS. Experts from both sides of the issue weighed in and an incredible audience discussion followed.

Following the taping of the show Dana reflected on her appearance.

"It was an honor to speak with Dr. Oz on behalf of ALS patients, the disabled and the terminally ill,” she said. “Although I had a lot to say, I feel there are many more important points to make in helping outsiders understand what this illness is, and the importance of getting to choose how to handle it. I have been told that I am a strong person and that I have dealt with my ALS well. Guess what? I am tired of being strong. I am tired of being a trouper. I am just plain old tired. The Dr. Oz Show has given me a chance to exhale. Personally I don't want sympathy, just empathy. On a lighter note I would like to thank all of the people from The ALS Association. They know who they are, from Jody to Sue to Dr. Scelsa. Everyone. And thank you to my family, especially my son Anthony and daughter Ramona."

This was a tremendously important discussion to have and one that hits particularly close to the hearts of the ALS community. We encourage you to view the links to the various segments from the show below and voice your own opinion. We look forward to your comments. Thank you.

Click here to watch Dr. Oz show “Are you prepared to cope with the end of life?”

Click here for Part 1 of the show. Dr. Oz opens up an honest conversation with the audience about the right to die.

Click here for Part 2 of the show. Dr. Oz opens up an honest conversation with the audience about the right to die.

Click here for Audience Q&A Part 1 of the show. Dr. Oz opens up an honest conversation with the audience about the right to die.

Click here for Audience Q&A Part 2 of the show. Dr. Oz opens up an honest conversation with the audience about the right to die.

Click here for Audience Q&A Part 3 of the show. Dr. Oz opens up an honest conversation with the audience about the right to die.

Click here to watch Montel Williams and Dr. Ablow sound off about their point of view on terminal illness, pain and an individual’s right to die.

FDA Approves NeuRx Diaphragm Pacing System (DPS)®

noreply@blogger.com (ALSofGNY Blog) — Wed, 05 Oct 2011 15:38:00 +0000

Synapse Biomedical, Inc. announces that the U.S. Food and Drug Administration (FDA) has approved its NeuRx Diaphragm Pacing System (DPS)® for treating amyotrophic lateral sclerosis (ALS) patients who have stimulatable diaphragms and are experiencing chronic hypoventilation.

The FDA Humanitarian Device Exemption (HDE) marketing approval is based on demonstration that NeuRx DPS® could help ALS patients live longer and sleep better than the current standard of care, alone. These findings are the result of a multi-center clinical trial that enrolled 106 patients and treated 86 for chronic hypoventilation.

“We are very pleased the FDA approved this next indication for use of the NeuRx DPS® to treat respiratory problems in ALS. In granting approval, it allows us to now offer individuals living with ALS more time to be able to breathe with their own muscles,” said Anthony R. Ignagni, Synapse Biomedical Inc., President and Chief Executive Officer.

As the phrenic nerve to the diaphragm muscles fails, patients lose the ability to breathe without ventilator support. Approximately 30,000 people in the United States live with ALS, with an estimated subset of 3,300 with both respiratory problems and intact phrenic nerves that could benefit from the NeuRx DPS® treatment. In ALS, NeuRx DPS® is implanted through minimally invasive laparoscopic surgery and provides electrical stimulation to the diaphragm muscles. Repeated use of NeuRx DPS® conditions the diaphragm muscles, delaying respiratory failure and the need for tracheostomy and mechanical ventilation.

“We plan to work closely with the Medical Directors at the ALS Association Certified CentersSM (www.alsa.org) and MDA/ALS Centers (www.als-mda.org/clinics) to establish a local treatment option. To support immediate treatment requests, we will be working initially with our previous clinical trial center investigators (www.synapsebiomedical.com/als/usneurx-centers.shtml),” said Steven Annunziato, Synapse Biomedical SVP Marketing and Sales.

“This is excellent news, indeed, for ALS patients, their caregivers, and for health care providers in general who treat ALS patients,” said University of Vermont ALS Association Certified Center Medical Director Rup Tandan, MD, FRCP. “The availability of the NeuRx DPS device to appropriate ALS patients is a major advance in the treatment of the disease that will enhance survival and quality of life in ALS patients. The planned partnership with certified ALS centers across the United States to make the device available to patients, and to provide adequate training to interested sites, will capitalize on the existing network of centers to enhance the quality of care offered to patients. Educational opportunities for the ALS community will also be significantly bolstered by this partnership between Synapse Biomedical and the certified ALS centers. I will look forward to our center’s participation in these efforts to positively influence the lives of ALS patients and their caregivers.”

“The ALS Association is proud to support The ALS Association Certified CentersSM and their participation in clinical trials”, said ALS Association President and CEO Jane Gilbert. “We are excited about the potential this therapy offers to help improve quality of life options available for those living with ALS.

Fifteen years ago, Dr. Raymond Onders, co-founder of Synapse Biomedical, began clinical research at University Hospitals Case Medical Center to help spinal cord injured patients breathe, including the late actor Christopher Reeve. In 2004, this research expanded to include patients with ALS. Presently, Dr. Onders holds the Margaret and Walter Remen Chair in Surgical Innovation and is a professor of Surgery at Case Western Reserve University School of Medicine. ALS has affected Dr. Onders and his family personally. “I lost my sister to this devastating disease this past year. I have also seen the significant benefit diaphragm pacing can provide to patients. Diaphragm pacing has improved the breathing and longevity of many of the patients I have treated. As medical researchers, we are committed to searching for the cure for ALS but until then, this approval allows us to help these patients,” said Dr. Onders.

“I applaud the FDA’s decision to approve the diaphragm pacer so all ALS patients can have access to it. Getting this device was one of the best decisions I’ve made since my diagnosis. It helped me delay the need for a tracheostomy until this summer, more than six years after my diagnosis. The operation was simple, and I had no trouble with the pacer since it was installed. Most people with ALS ultimately will face a decision about going on a vent. The pacer will help extend that decision while we help find a cure," said Augie Nieto, Co-Chair of MDA’s ALS Division, and Chief Inspiration Officer of Augie’s Quest.

NeuRx DPS® received CE Mark #518356 on November 20, 2007 and is approved for treating patients with diaphragm dysfunction in the European Union. Centers outside the United States include Charité - Universitätsmedizin in Berlin, Germany, Medizinische Hochschule in Hannover, Germany, Royal Hallamshire Hospital in Sheffield, UK, University Hospital Gasthuisberg in Leuven, Belgium, UMCG Groningen in the Netherlands and the Group Hospitalier Pitié-Salpêtrière in Paris, France where ALS was first classically described by Jean-Martin Charcot (www.synapsebiomedical.com/eu/euneurx-centers.shtml).

NeuRx DPS® also is approved in the United States under an HDE for spinal cord injury (SCI) patients, 18 years or older who have stimulatable diaphragms but lack control of their diaphragms. Today, 44 U.S. centers are approved for SCI treatment and are listed at www.synapsebiomedical.com/products/us_sci.shtml.
Technical and Procedure Description

NeuRx DPS® is a four-channel, battery-powered external pulse generator (EPG) with electrodes that are implanted through minimally invasive laparoscopic surgery. The device provides electrical stimulation to the muscle and nerves of the diaphragm.

During the procedure, a surgeon creates four dime-sized holes in the abdomen and inserts a laparoscope so the diaphragm muscle can be seen. The surgeon then places small electrodes in the diaphragm. The electrodes are attached to the EPG, which stimulates the diaphragm, causing a contraction of muscle. The ALS surgery can be done on an outpatient basis. Post-operatively, the EPG is programmed, and the patients and caregivers are trained on the use of NeuRx DPS®. The stimulation is then used to condition the diaphragm, enabling the patient to breathe longer without the need for tracheostomy ventilation.

For more information, visit www.synapsebiomedical.com/news/media.

Interim Data on Neuralstem ALS Phase I Trial Announced

noreply@blogger.com (ALSofGNY Blog) — Wed, 05 Oct 2011 15:33:00 +0000

Eva Feldman, M.D., Ph.D., Principal Investigator of the Phase I safety trial of Neuralstem Inc's human spinal cord stem cells in ALS, presented primary and secondary endpoint data on the first 12 patients at the American Neurological Association's annual meeting. The report indicates the procedure to be safe and some improvement in motor function.

“Eight out of ten living subjects in the trial showed lower extremity function scores that remained the same or improved after treatment,” commented Dr. Feldman. “Two out of ten showed continued decline of lower extremity function. The sample size and follow-up time are too limited to draw any conclusions, but we are encouraged by the safety profile of our approach."

"We are pleased to hear the progress in the study and the encouraging safety profile in patients,” said ALS Association Chief Scientist Lucie Bruijn. "We look forward to learning more about the study results as it becomes available."

The Phase I trial to assess the safety of Neuralstem's spinal cord neural stem cells and intraspinal transplantation method in ALS patients has been underway since January 2010. Twelve patients have been transplanted in the lumbar region of the spine. The last of these was transplanted in April, 2011. The trial is designed to transplant up to 18 patients. After a required FDA safety data approval, the trial is expected to progress to include cervical injections for the last six patients.

Senate Committee Approves $6 Million for the ALS Registry

noreply@blogger.com (ALSofGNY Blog) — Fri, 23 Sep 2011 19:38:00 +0000

The Senate Appropriations Committee has voted to provide an additional $6 million for the ALS Registry in 2012!! The funding will allow the Registry to continue to identify cases of ALS across the country, collect additional information about the disease and expand exciting projects such as adding a biorepository and tools to help people with ALS learn about and enroll in clinical trials.

This is a tremendous victory for every person with ALS. It is a clear sign that Congress recognizes the critical role the Registry can play in the fight to find the cause, treatment and cure for ALS. It also is clear that ALS is a priority for the Senate. The Committee reduced funding, or eliminated it entirely, for most other health care programs. In fact, funding for the entire Department of Health and Human Services was reduced. Yet, the Senate maintained strong support for the Registry by keeping funding at the current level.

The full Senate still must vote on the Department of Health and Human Services Appropriations bill that includes the Registry funding, and the House Appropriations Committee also must vote on their version of the bill. Therefore, there are a number of steps remaining in the legislative process before we can declare victory this year.

We will keep you updated on the latest news and let you know when your outreach to Congress is needed. In the meantime, you can learn the latest news by following us on Twitter or on Facebook.

Linkage Found Between Familial ALS and Frontotemporal Dementia (FTD)

noreply@blogger.com (ALSofGNY Blog) — Thu, 22 Sep 2011 19:41:00 +0000

The ALS Association Greater New York Chapter is excited to announce a new major milestone in the battle against ALS. (see below) A recent study funded by The Abendroth ALS Genetic Discovery Fund has identified genetic abnormalities linking familial ALS and frontotemporal dementia (FTD). This finding provides the most significant clues to-date, as it accounts for greater than one-third of the inherited cases of ALS and FTD.

Funding for the Abendroth Fund was made possible by significant contributions from The ALS Association Greater New York Chapter and the Chapter Research Council. To become a member of the Research Council and help fund groundbreaking research such as this, please visit our website at www.als-ny.org to make a donation. Be sure to mark your gift’s designation as “Research”.

Through the generous support of the Greater New York Research Council, members have contributed nearly $7 million to fund unique and diverse studies throughout the world.

ALS Association-Funded Research Identifies New Genetic Mutation: the Most Common Cause of FTD and ALS Accounting for as Much as One Third of All Familial ALS

Two independent studies, both funded by The ALS Association, have found a genetic abnormality that, according to researchers, is the most common cause of Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). As reported in the recent online issue of the scientific journal Neuron, an unusual mutation was discovered, where a short DNA sequence is repeated many more times as compared to healthy individuals.

Using next generation sequencing in a study led by Bryan J. Traynor, M.D., Laboratory of Neurogenetics, National Institute on Aging, the team identified a GGGGCC hexanucleotide repeat within the non-coding region of a gene on chromosome 9p21. This repeat accounts for nearly 50% of familial ALS cases in Finland and more than a third of familial cases in other European populations.

The identification of the same genetic abnormality was independently made by a group at Mayo Clinic in Jacksonville, Florida led by Rosa Rademakers, Ph.D. and published in the same journal. The repeat of C and G (two of the four nucleotides that make up the genetic code) was found in a non-coding region of a gene called C9ORF72, which has no known function and its role in disease remains a mystery.

“We believe that when the defective gene is transcribed into a messenger RNA molecule, the expanded repeat section causes the RNA to bind tightly to certain proteins, forming clumps within the brain cells,” according to Dr. Rademakers. “By binding these proteins, the abnormal RNA may prevent these proteins from carrying out their normal functions in the cell.”

The identification of the genetic lesion on the chromosome 9p21 locus marks a major milestone in ALS research. Several studies have led to the identification of this region linked to chromosome 9p21 including recent genome-wide association (GWA) studies. Click here to read a report.

Investigators worldwide have been committed to identifying the gene alteration, and until now it had remained elusive. This hexanucleotide repeat was identified using state of the art next-generation sequencing technology. “The repeat expansion was highly associated with ALS and FTD in the Finnish population,” said Dr. Traynor.

“Since all routine methods of genetic analysis had failed to find the genetic defect in this region, we suspected the defect could be a rare DNA repeat expansion,” said lead investigator Mariely DeJesus-Hernandez from the Mayo Clinic-led research team. This team found an area of DNA that in healthy individuals is normally repeated only 2 to 23 times, but in ALS or FTD patients is repeated 700-1,600 times. These changes were found in almost 12 percent of familial FTD and more than 23 percent of familial ALS samples studied at Mayo Clinic.

The defect is also the strongest genetic risk factor found to date for the more common, non-inherited, sporadic forms of these diseases. It was found in 3 percent of sporadic FTD and 4 percent of sporadic ALS samples in Mayo Clinic’s large clinical patient series.

“This finding has the potential to lead to significant insights into how both of these neurodegenerative diseases develop, and may give us much needed leads into new ways to treat our patients,” said Senior Investigator Rosa Rademakers, a neuroscientist at the Mayo Clinic campus in Florida.

The repeat expansion is more than twice as common as the SOD1 gene in familial ALS and four times as common as TDP43, FUS, VCP combined. The identification of this repeat and the rapid, reliable method of screening individuals for repeat expansion may have immediate utility by allowing early identification of ALS patients at risk of cognitive impairment and FTD cases at risk of progressive paralysis.

In the long term, the identification of the genetic lesions underlying the chromosome 9p21 ALS-FTD together with the high frequency makes it an ideal target for drug development aimed at ameliorating the disease process. “Whether the pathogenic process is linked to a loss of function in which the expansion disrupts splicing of the target or through the generation of toxic RNA disrupting normal cellular processes will be determined by further study,” added Traynor. “However the large size of the expansion and its location in a non-coding region may argue for the later mechanism.”

Disruption of RNA metabolism has already been identified as an important mechanism in those cases with TDP43 and FUS mutations, and this discovery provides further evidence for disrupted RNA metabolism as a key underlying cause of disease.

“This is tremendously exciting,” commented ALS Association Chief Scientist Dr. Lucie Bruijn, Ph.D. “These findings will significantly impact the field as we begin to understand more about the consequence of these changes to the disease process, aid our understanding of FTD and ALS, potentially provide a diagnostic tool, and enable the development of new therapeutic approaches.”

"It is fitting that funds from the Abendroth ALS Genetic Research Fund provided significant funding of this very important research. I was honored to help initiate this fund, which received contributions from chapters and trustees of the ALS Association, while recognizing its founding trustee Bob Abendroth, who dedicated over three decades of service to this endeavor. The Association's research program, which today is globally admired for the research it encourages and fosters, has long benefited from Bob's vision and leadership,” stated Alan Griffith, Trustee – National ALS Association & Chairman Emeritus – Greater New York Chapter.

“This is a significant scientific discovery that provides us with much hope,” noted ALS Association Greater New York Chapter President & CEO Dorine Gordon. “While much work still lies ahead, this discovery provides a clearer picture of what causes ALS as we move toward a cure and treatment for the disease. We are now one step closer to finding that cure.”

Research Indicates TDP-43 and FUS/TLS Work Together

noreply@blogger.com (ALSofGNY Blog) — Wed, 14 Sep 2011 18:48:00 +0000

Although several new genes have now been linked to ALS including the recent exciting finding of mutations in the gene Ubiquilin-2 linked to familial ALS, exactly how these mutations cause disease remains unclear and is the focus of research in labs world-wide. Two proteins with similar structure and function, TDP43 and FUS, linked to familial ALS with and without frontotemporal dementia are thought to be involved in the disease, either by causing some new toxic property or by a loss of their normal function.

To identify the potential mechanism, investigators led by Brian McCabe, Ph.D., assistant professor of pathology & cell biology in the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and a member of the Center for Motor Neuron Biology and Disease at Columbia University Medical Center used the Drosophila-fly model. They demonstrated that these two proteins work in tandem to support the long-term survival of motor neurons. The findings were published in the September 1, 2011 online edition of the Journal of Clinical Investigation.

The investigators demonstrate that the drosophila TDP-43 and FUS/TLS proteins bind to each other, and using the mutant proteins linked to familial-ALS, they show that these proteins work together in a common genetic pathway. They show that FUS/TLS mutant Drosophila can be fully rescued by wild type human FUS/TLS but not familial ALS mutant versions. Finally they show that over expression of FUS/TLS can effectively rescue TDP-43 mutants. Their results argue that loss of a common molecular activity that requires TDP-43 and FUS/TLS could contribute to ALS, in contrast to current models suggesting toxic accumulation.

“The two genes make proteins with similar form and function, which suggested to us that they could work together, and that disruptions of either gene would affect neuronal survival,” said Dr. McCabe, who was awarded his first grant for ALS research from The Association. “I am very grateful to The ALS Association for my first ALS grant on ALS2, which set us off on this path,” added Dr. McCabe.

“Understanding how these two proteins cause disease is critical for therapeutic development. Further studies together with this new finding will provide the necessary clues to help intervene and develop appropriate treatments," commented ALS Association Chief Scientist Lucie Bruijn, Ph.D.

Two Genes that Cause Familial ALS Shown to Work Together

noreply@blogger.com (ALSofGNY Blog) — Wed, 14 Sep 2011 18:38:00 +0000

NEW YORK, NY, (September 1, 2011) – Although several genes have been linked to amyotrophic lateral sclerosis (ALS), it is still unknown how they cause this progressive neurodegenerative disease. In a new study, Columbia University Medical Center (CUMC) researchers have demonstrated that two ALS-associated genes work in tandem to support the long-term survival of motor neurons. The findings were published in the September 1 online edition of the Journal of Clinical Investigation.

“Any therapy based on this discovery is probably a long way off. Nonetheless, it’s an important step toward piecing together the various factors that contribute to ALS,” says lead author Brian McCabe, PhD, assistant professor of pathology & cell biology in the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and a member of the Center for Motor Neuron Biology and Disease at Columbia University Medical Center (CUMC).

ALS, also known as “Lou Gehrig’s disease,” is a progressive disease that affects motor neurons — specialized nerve cells in the spinal cord and brainstem essential for controlling muscle strength and movement. ALS typically begins after age 50, eventually affecting one’s ability to move, speak, and breathe. Some 30,000 Americans suffer from ALS at any given time. About 90 percent have a sporadic, or noninherited, form of the disease. The cause of sporadic ALS is unknown but likely involves a combination of genetic and environmental factors. The remaining 10 percent have a familial form of ALS, which is caused by an inherited genetic mutation. There is no cure for ALS. Symptoms are managed with medication, physical and speech therapy, assistive devices, and nutritional support. Many people with ALS die of respiratory complications within two to three years of diagnosis.

In the current experiment, the researchers examined the roles of two recently discovered ALS genes, FUS/TLS and TDP-43. Both genes are involved in the processing of messenger RNAs, which carry the genetic codes to make particular proteins. “The two genes make proteins with similar form and function, which suggested to us that they could work together, and that disruptions of either gene would affect neuronal survival,” says Dr. McCabe. A competing view was that mutations to these genes cause abnormalities in their respective proteins that are toxic to motor neurons independent of their normal functions.

To determine which model is correct, the researchers turned to the fruit fly (Drosophila melanogaster), which has genes similar to FUS/TLS and TDP-43 and reproduces quickly, making it a good model for genetic studies of ALS. For the study, Dr. McCabe’s team created a line of flies with mutant FUS/TLS; flies with mutant TDP-43 had already been developed by an Italian research group.

In the first part of the study, the researchers found that flies with mutant FUS/TLS have decreased adulthood viability, diminished locomotor speed, and reduced longevity, compared with normal flies. The mutant flies were rescued (returned to normal) by inserting normal human FUS/TLS into their genome. The mutant flies were not rescued with ALS mutant human FUS/TLS. “This means that the gene works similarly in flies and in humans,” says Dr. McCabe.

Flies with mutant TDP-43 showed similar deficits in survival, locomotion, and longevity. This line of flies was rescued with insertion of normal human TDP-43.

To determine whether the two genes interact, the team attempted to cross-rescue FUS/TLS or TDP-43 mutants by forcing overexpression of the other gene. Overexpression of FUS/TLS rescued flies with TDP-43 mutations, while overexpression of TDP-43 did not rescue flies with FUS/TLS mutations. “This finding demonstrates that FUS/TLS acts together with, and downstream of, TDP-43 in a common genetic pathway in neurons.”

Whether these findings can be translated into therapy remains to be seen. “But one could imagine that if you could develop a drug or gene therapy that could make FUS/TLS more active, it might help in patients who have TDP-43 mutations,” says Dr. McCabe.

“Our results show these two genes work together in a familial ALS model,” Dr. McCabe adds. “How ALS genes cause disease, and whether other genes work together, are big questions. The hope is that if we can eventually understand how all ALS genes interact, we can figure out how to intervene.”

Dr. McCabe’s paper is titled, “The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span.” The paper’s first authors are Ji-Wu Wang and Jonathan R. Brent at CUMC. Their coauthors include Andrew Tomlinson and Neil A. Shneider, also at CUMC.

The authors declare that they have no conflicts of interest.

The study was funded by P2ALS and the Motor Neuron Center.

ALS Advocacy News: Proposed PDUFA Agreement is the Right Prescription for People with Lou Gehrig's Disease

noreply@blogger.com (ALSofGNY Blog) — Wed, 14 Sep 2011 18:27:00 +0000

WASHINGTON, DC (September 6, 2011) – The ALS Association applauds the proposed agreement for the reauthorization of the Prescription Drug User Fee Act (PDUFA), which includes provisions that would help to encourage and expedite the approval of new treatments for rare diseases like ALS, also known as Lou Gehrig’s Disease. The proposed agreement was released by the Food and Drug Administration (FDA) on September 1.

PDUFA authorizes the FDA to collect fees from companies that develop drugs and biologic products. These fees help the agency cover the costs of drug reviews and currently account for about half of the agency’s drug review costs. The law originally was established in 1992 and has been reauthorized every five years since that time. The current law expires next year unless it is reauthorized by September 30, 2012.

“The reauthorization of PDUFA is critical to discovering a treatment and cure for ALS,” said Jane Gilbert, President and CEO of The ALS Association. “There is no effective treatment for ALS and it is fatal in an average of just two to five years. By providing the agency with the resources it needs to review new treatments and ensure their efficacy and safety, PDUFA helps to make sure that funding limitations do not block innovative treatments from reaching the patients who so urgently need them.”

“The additional resources and the establishment of drug review timeframes are important elements of PDUFA,” said Steve Gibson, The ALS Association’s Chief Public Policy Officer. “This proposal is particularly significant because it was developed with the input of the patient community in partnership with the FDA and industry. And it is significant because it includes key provisions that promote the development of new treatments and recognize that the practice of medicine is not a one-size-fits-all proposition, especially when it comes to a disease like Lou Gehrig’s Disease.”

Since July 2010, The ALS Association participated in monthly meetings with FDA officials to bring the perspective of people with ALS to the discussion on the reauthorization of PDUFA. Three key provisions advocated by The Association were included in the proposed agreement. They include:

Developing Treatments for Rare Diseases: Directs FDA to issue regulatory policies and guidance that encourage the development of drugs to treat rare diseases and to include patients as active participants in this process.
Assessing Risk-Benefit: Instructs the agency to develop an objective and qualitative framework for assessing risk and benefit during the drug review process and to ensure patient involvement. The provision takes into account the fact that people with ALS who have no treatment options and who will die in just two to five years have a much different view of risk and benefit than does someone with a treatable or chronic condition.

Utilizing Biomarkers in Clinical Trials: The proposal encourages greater use of biomarkers and other markers, or “sign-posts,” to help determine risk and benefit when reviewing new drugs. Biomarkers have the potential to significantly accelerate access to new drugs by helping to determine much sooner whether a treatment works and in which patients.

“Congress has authorized PDUFA four times beginning in 1992. But perhaps no other version of the law is as important to people with ALS as PDUFA V,” said Gibson. “Right now people with ALS have no way to defend themselves in the fight against the disease. It will take their lives. But PDUFA V can help them fight back. It promotes new treatments. It speeds access. And it makes sense. We urge Congress to swiftly adopt the PDUFA V proposal in 2012.”

The proposed agreement released by the FDA is available on the FDA website here. (PDF)

Help Save the ALS Research Program at DOD

noreply@blogger.com (ALSofGNY Blog) — Mon, 12 Sep 2011 16:36:00 +0000

The Defense Subcommittee of the Senate Appropriations Committee is scheduled to take up their version of the FY 2012 Department of Defense Appropriations Act tomorrow, Tuesday September 13. It is possible that the Subcommittee may vote to eliminate the ALS Research Program and all medical research programs at the DOD.

We cannot let this happen!

Please contact your Senators TODAY! Tell them to save the ALSRP and work with the Appropriations Committee to continue funding for this critical program, which is specifically designed to find a treatment for ALS.

You can email your Senators directly from our website, here. Do it today. And tell your friends, family and everyone else you know to do the same. Your outreach made a difference earlier this year and we are confident that it can again -- but only if you take action today.

Thank you!

Long Island Walkers - Win an iPod

noreply@blogger.com (ALSofGNY Blog) — Mon, 12 Sep 2011 13:45:00 +0000

The last few weeks of our Long Island Walk to Defeat ALS fundraising competition have been a huge success. You have raised over $156,000 so far. This is the last week and we want to keep the momentum going with one final week-long fundraising competition. This week's added incentive is:

An Apple iPod.

Here's how it works:

The walker who raises the most money this week wins the iPod.*

We will announce the winner on Friday at 4 p.m.

*Only first time fundraising competition winners are eligible.

One of the best ways to meet and exceed your fundraising goal is to email everyone you know. So, go ahead, and ask your family, friends, and co-workers to support the fight against ALS.

Log in to your participant center today.

We appreciate your time and commitment to fighting ALS. As always, we are here if you need anything at all.

Keep up the great work!

Good luck and have fun!!

For more information about the competition, contact Allison Lardner at 212-619-1400 or email: Alardner@als-ny.org.

Congrats to last week's winner of a $100 American Express Gift Card, Mackenzie Buscarino who raised $1,105.

Yankees Magazine: PALS Adrian Dessi at Yankee Stadium with Greater New York Chapter

noreply@blogger.com (ALSofGNY Blog) — Wed, 07 Sep 2011 15:29:00 +0000

Yankees Magazine wrote about local ALS patient Adrian Dessi as he took to the field at Yankee stadium on July 9th accompanied by his family and ALS Association Greater New York Chapter President and CEO Dorine Gordon to accept a generous donation from the Yankee organization along with a commemorative home plate presented by Manager Joe Girardi. Dessi had the honor of throwing out the first pitch of the game and later witnessed history as Derek Jeter made his 3,000th career hit. What a great day for baseball and for those touched by ALS!

Click on this link to read the article as it appeared in the August 2011 edition of Yankee Magazine.

Genome Study Identifies Chromosome 9 Link to ALS

noreply@blogger.com (ALSofGNY Blog) — Wed, 31 Aug 2011 19:45:00 +0000

In an ALS Association-funded study conducted in Finland, researchers found that a major cause of familial ALS was located on chromosome 9p21. Finland is a well suited location for a genome-wide association (GWA) study of ALS because the incidence of the ALS is one of the highest in the world, and the genetic background of the Finnish population is relatively homogenous. Previous GWA studies have failed to identify a single location that is significant and can be replicated in other studies probably because of the heterogeneity of the disease.

“Although GWA study has been a disappointing approach to find new genes linked to sporadic ALS, it is encouraging to see the approach used successfully in a more homogeneous population,” said ALS Association Chief Scientist Dr. Lucie Bruijn, Ph.D.

In the study published in Lancet Neurology, 853 DNA samples were collected from 442 people with ALS and 521 control individuals. Control samples were from a population-based study of elderly Finnish individuals. People known to carry the SOD1 gene were included in the final analysis as positive controls to assess whether this genome-wide association study was able to detect an association signal.

Two signal peaks were identified in the population that reached significance: one peak corresponding to the known autosomal recessive D90A mutation of the SOD1 gene and the second corresponding to chromosome 9p21.2 a location previously linked to autosomal dominant ALS, where the gene is passed from just one parent.

The study therefore describes a major cause of familial ALS in the Finland located on chromosome 9p21. Furthermore, the overlap with the risk haplotype (a combination of DNA sequences) recently also reported for frontotemporal dementia provides further evidence of a shared genetic cause for these two neurodegenerative diseases. Although the investigators are currently unable to identify the specific genetic variation underlying this locus, it will be feasible to identify patients with chromosome 9p21-linked ALS by sequencing for this risk haplotype.

The research team was led by Bryan Traynor, a neurogeneticist with the National Institute on Aging and with the Johns Hopkins School of Medicine. "We are very excited about this result because for the first time, we have been able to explain a large proportion of ALS cases in a population, Taynor said. “We will continue to pursue this chromosome 9 locus to understand how it gives rise to disease.”

In addition to The ALS Association, funding for this project came from National Institutes of Health and National Institute on Aging, Microsoft Research, Helsinki University Central Hospital, Finnish Academy, Finnish Medical Society Duodecim, and Kuopio University.

New ALS Gene Discovery Helps Focus Future Research

noreply@blogger.com (ALSofGNY Blog) — Fri, 26 Aug 2011 17:08:00 +0000

Investigators from Northwestern University Feinberg School of Medicine have identified a new gene linked to familial ALS that brings researchers closer to understanding what goes wrong in cells to cause Lou Gehrig’s Disease and help in the development of new therapies. Click here to read the original story.

Many people are looking for more information on this new discovery. We will continue to provide information as it become available. Here is a little bit more on what the discovery means to researchers.

The discovery of new genes for ALS is very important because they help us better understand the disease. As more genes are identified they will link together to make a clearer picture. In the case of the newly discovered gene carrying mutations linked to ALS, this gene is involved in clearing the cell of accumulated and unwanted waste proteins.

When waste proteins begin to accumulate in the cell, the cell has a mechanism to get rid of these unwanted proteins, which has been described as recycling. It is thought that when protein accumulations are not sufficiently removed, the cell becomes clogged, causing the system to overload, malfunction, and the cells to die.

New studies will begin to focus on what is going wrong with these waste carrying mutations, and we will seek information on how that can be corrected. This discovery provides a new target to develop therapies and may have relevance for all forms of ALS. Drug development will not be any easier, however this finding provides an additional target to focus treatment options.