Another call for action - NIH Budget Cuts

Take action to prevent cuts to federal research funding

We need your help to urge Congress to reject proposed cuts to National Institutes of Health (NIH) research funding. Support for NIH is critical as it is the largest funding source of biomedical research in the United States, and why ensuring adequate funding for NIH is one of MDA's policy priorities. While research funding from organizations like MDA - which has invested more than $1 billion in research - is significant and is moving the needle, robust federal funding is essential to finding treatments and cures. Congress has come together in a bipartisan effort to support NIH funding in recent years, and it is up to all advocates to ensure that the bipartisan support continues. NIH fuding was increased in fiscal year (FY) 2016, and increases were proposed for FY17, though a final budget agreement for FY17 has not yet been enacted. It is a concern that there is no final budget in place for the current fiscal year, but of greater concern are the NIH budget cuts outlined in the President's budget blueprint (a $5.8 billion cut to NIH equivalent to 18% of the overall budget).

We must work together to ensure that research funding is not cut, and that NIH support continues to grow through strong bipartisan support in Congress. To deliver this message in person, researchers from leading institutions around the country visited Capitol Hill on March 22 in conjunction with MDA's 2017 Scientific Conference to urge Congress to reject any proposed funding cuts and to instead enact sustained and robust funding increases for the National Institutes of Health (NIH).

Now it is your turn to amplify this message. Please take a moment today to urge your members of Congress to maintain the bipartisan support for research and to reject any proposed cuts that would harm quest for the development of treatments and cures. 

We need to be heard! 

Years ago, I ignored these "calls for action" believing that they really didn't do any good. I am now an advocate of this approach. I now know my congressional representative's staff, an occasionally my representative, reads these emails. Even better, I receive a response and often a follow-up email explaining what happened and why. Thank you for your consideration. Please click on the "TAKE ACTION" above.

Can Carriers of Kennedy's Disease experience symptoms?

• Can Kennedy's Disease Carriers experience symptoms? 
• I am a carrier, why do I have severe cramping and difficulty swallowing. 

These type questiona are asked frequently. Researchers believe they know the answer, but since carriers are rarely studied, I am not sure we fully understand why some carriers experience far more severe symptoms and earlier onset. Below is a collection of articles on the subject. If anyone has other sources that might better explain the situation, please let me know.

X-linked dominant inheritance

In X-linked dominant inheritance, when the mother alone is the carrier of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows:

• Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.

When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:

• Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome.
• Of his sons: none will have the disorder; sons do not receive an X chromosome from their father.

If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder. Their children would inherit the disorder as follows:

• Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.
• Of the sons: 50% will have the disorder, 50% will be completely unaffected. Sons have an equal chance of receiving either of their mother's X chromosomes.

In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents. Were this to occur with an X-linked dominant disorder, that daughter would likely experience a more severe form.

• Read the entire article at: Wikipedia    

So, what does happen when a woman has two defective 'X' chomosomes?

Ed Meyertholen provided an explanation in a KDA Forum. Click Here to read more

• This is an abstract of the study Ed mentioned. Click Here for that  

There is another interesting explanation about why symptoms might be more pronounced in some women.  X-inactivation

• Read the entire article at: X-inactivation at Wikipedia    

The only real disability in life is a poor attitude

Living with Kennedy's Disease, or any progressive disorder, is challenging. It is also a learning experience. It is easy to become caught up in the 'feeling sorry for yourself" mode. But, all that does is make life for you and your loved ones miserable.

Many years ago I came across this poem, "The Man in the Glass," by Peter Dale Wimbrow, Sr.

When you get what you want in your struggle for self

and the world makes you king for a day.

Just go to the mirror and look at yourself

and see what that man has to say.

For it isn't your father, mother or wife

whose judgement upon you must pass.

The fellow whose verdict counts in your life

is the one staring back from the glass.

He’s the fellow to please, never mind all the rest,

For he’s with you clear to the end,

And you’ve passed your most  difficult test,

If the man in the glass is your friend.

You can fool the whole world down the pathway of years,

And get pats on the back as you pass,

But the final reward will be heartache and tears,

If you’ve cheated the man in the glass.

The point of this journey is the journey itself. It can only be successful if you live in a way that allows you to enjoy the life you are given.

Robotic legs: Dermoskeleton technology aims to help B.C.'s disabled

Scott Cunningham, a reporter for the Vancouver Island CTV News, wrote the following article on Paul Lazenby's adventure test-driving the Keeogo. The video and Paul's comments on his experience can be found in my post earlier this week. The potential the Keeogo has to revolutionize mobility for those living with a disability has me more excited than I have been in quite a while.

Robotic legs: Dermoskeleton technology aims to help B.C.'s disabled

It was designed for the military and featured in the movies. Now, a futuristic robotic skeleton could help B.C.’s disabled community. The wearable technology, which looks like something out of the Robocop movies, arrived in the province in January. Designed by a Quebec-based company, the Keeogo device is an assistive walking machine aimed at helping people with mobility issues.

Targeted at people with multiple sclerosis, Parkinson’s disease and other neuromuscular issues, a new high-tech device is giving people like Duncan man Paul Lazenby their legs back. Suffering from Kennedy’s disease, Duncan man Ken Lazenby is slowly losing control of some muscle movement and is happy to be a trial patient for the new technology. March 8, 2017.

“We can see people continue to be active, healthy, exercise and rehabilitate,” said mobility device distributer Graham Plant. “Maybe they can get away from having to use a cane or a wheelchair.”

“It’s fun not to have to think about it,” said Lazenby, as he scaled a flight of stairs that would normally exhaust him. Suffering from Kennedy’s disease, the Duncan resident is slowly losing control of some muscle movement and is happy to be a trial patient for the new technology.

“What things like this offer is hope. Hope for young people who have neuromuscular diseases that they can move freely if they keep what strength they have left,” he said.

Priced at around $50,000, the futuristic mobility tools don’t come cheap. Because they’re so new, most insurance providers have yet to research them thoroughly.
WorkSafe BC says it is not aware of requests for Keeogo devices, but it is open to investigating anything that could help clients.

The robotic walking aids are a class one medical device, meaning they could be covered by insurance, much like a wheelchair. To date, the company HME Mobility and Accessibility, which is distributing the product in B.C., has yet to sell a unit but is in the midst of several patient trials.

Silicon Valley man takes on Kennedy’s Disease

I just finished this article written by Jacqueline Lee in The Mercury News. Ralph is the gentleman that made the Kennedy's Disease Awareness video on Rare Disease Day. Ralph is definitely doing everything he can to raise awareness for this progressive neuromuscular disease. Thank Ralph

Silicon Valley man takes on Kennedy’s Disease

"These days, Ralph Briones, 42, has trouble walking up stairs, jogging, swallowing food or lifting heavy groceries.

Still, Briones is using what energy he has to raise awareness about Kennedy’s Disease. He was diagnosed in October with the relatively unknown neurological condition, which affects about 1 in 40,000 adult men.

On Rare Disease Day, which was Feb. 28 this year, Briones launched an online campaign to raise at least $10,000 to further research on the genetic disease that still baffles scientists, doctors and patients: There is no cure or treatment.

All proceeds go to the Kennedy’s Disease Association, which awards annual grants for research.

Just looking at Briones, who continues to work at Stanford University, does not offer many clues of his suffering.

“If you’ve known me a while though, you’d say, ‘You sound kind of funny, you’re walking kind of funny, your smile is crooked,’” Briones said.

That’s because the adult onset disease causes muscle weakness and deterioration, especially in the arms, legs, face and throat. The disease progresses at a different pace in each patient.

Eventually, Briones might not be able to talk or walk. But he’s focusing on the positive.

“When I got diagnosed with Kennedy’s Disease, the first thing I thought was, ‘How long do I have to live?” said Briones, a Santa Clara father of two. “From what I’ve seen, it’s not something that will shorten my life or that I’ll die from quickly.”

A video on Briones’ fundraising site, www.gofundme.com/kennedysdiseaseresearch, features men from around the world — Australia to Taiwan to Michigan — with different symptoms at varying severity.

Kennedy’s Disease patients often are misdiagnosed with ALS, which has similar symptoms. The disease is difficult to diagnose because it’s not on doctors’ radar and requires genetic testing for confirmation, Briones said.

When Briones first experienced symptoms in his late 30s, he thought he was just feeling the effects of aging, so he started to work out daily. Briones, who actively played tennis, snowboarded and danced until his mid-30s, noticed though that he wasn’t building muscle. His muscle cramps and spasms worsened, and workouts would leave him feeling unusually fatigued and sore.

After many doctor consultations, blood tests and an MRI that didn’t turn up anything, Briones and his wife discovered in online research that his symptoms matched Kennedy’s Disease. They asked for a DNA test and, sure enough, it was a match, Briones said. Briones later learned his mother was a carrier.

Because there is no cure or treatment, Briones has had to figure out how to live with the disease. His community through the Kennedy’s Disease Association is a big help. ..."

To reaad the entire article, follow this link: The Mercury News

Remarkable Canadian invention helps physically challenged

My January 29th blog post was on a new device that might revolutionize how people with mobility issues get around. Paul Lazenby is another person living with Kennedy’s Disease. He had the opportunity to test the Keeogo walking assist device. The Keeogo is designed for people with mobility challenges, but still have balance and some core strength.

The news report shows Paul testing the device for the first time. He looks confident and comfortable. When he took an unassisted step up at about the 1:40 mark, I said, “Now that is amazing.”

I congratulate Paul for taking the time to discuss Kennedy’s Disease in the video.

Click here to watch Paul strut across the room.

Paul provided some additional information on the Keeogo.  Batteries last 45 minutes for heavy climbing, 3hrs for walking.  Batteries change out easily, and recharge in about 20 mins. There is a tension control so there is less torgue while walking and the higher setting for stairclimbing. It really does power you up the stairs.

Had it on for two and a half hours, did multiple stairs (plus the big step several times leading with either foot) and walked a fair bit outdoors. The large step would be impossible for me normally without a railing or pushing on my knee with my hands. It really does make stairs effortless for me. When I was out walking, it feels a little awkward, because it still hasn't/won't adjust to my natural rolling pirate gait .. but.. I found my self whistling, and could carry on a conversation when normally I walk with teeth clenched and very focussed.

It feels very supportive and solid. The other gentleman who you see striding by in the video has a spinal cord injury and cannot walk straight or without a cane normally, has been using the device three times a week for the last month and is doing great. the computer actually powers one of his legs more than the other to give him a natural stride which he says is helping to relieve the strains his injury is causing to the rest of his body.

NORD Issues Statement on President Trump’s Address to Congress

The process for expediting certain drugs has improved dramatically over the last decade. Yet, we need to keep the pressure on our representatives - lest they forget. There is still a lot of work to be done in finding a treatment for Kennedy's Disease.

NORD Issues Statement on President Trump’s Address to Congress

Posted by Jennifer Huron

NORD Issues Statement on President Trump’s Address to Congress

Washington, D.C., March 1, 2017—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, issued the following statement in response to President Trump’s first speech to Congress:

“Yesterday evening, President Trump recognized Rare Disease Day and the 30 million Americans living with a rare disease in his first address to Congress. We are grateful for his recognition of the day that raises awareness for all individuals with rare diseases and their families. We are elated that he is joining us in our efforts.

President Trump also recognized Megan Crowley, and her father John, as shining examples of the untiring, steadfast commitment individuals with rare diseases and their families bring to finding treatments and cures for their disease. The Crowleys are one of many superstar families that deserve recognition, and we are thrilled that their tireless work was recognized on such a large stage.

The President continued, stating, ‘…our slow and burdensome approval process at the Food and Drug Administration keeps too many advances, like the one that saved Megan’s life, from reaching those in need. If we slash the restraints, not just at the FDA but across our Government, then we will be blessed with far more miracles like Megan.’

We agree that FDA review processes can be improved upon to expedite the development and review of orphan drugs. Yet we disagree with the President that restraints must be slashed, or that the approval process at the FDA is preventing advances from reaching those in need.

Between 2008 and 2013, 87 percent of the 113 rare disease treatments reviewed by the FDA received an expedited review, compared to 35 percent of treatments for common diseases.[i] Seventy-eight percent of rare disease treatments were approved using one or more flexible development approaches (generally defined as an approach that does not include two adequate and well-controlled trials or uses novel endpoints).[ii]

For patients with immediately life-threatening illnesses who cannot participate in clinical trials, the FDA approves 99.5 percent of all expanded access requests submitted by physicians and companies. ..."

To read the rest of the statement follow this link: NORD Statement