Paralyzed Girl Ascends Mt. Kilimanjaro in Wheelchair
Meet 29-year-old Erica Davis.
San Diego resident Erica Davis, 29, was paralyzed from the waist down by a non-cancerous spinal tumor five and a half years ago.
“At the time I was thinking am I ever going to be able to play sports again? Because sports is my life,” Davis said.
Deciding to view her disability as a challenge, Davis began using special machines that moved her legs for her and kept her healthy — healthy enough to eventually ascend Mount Kilimanjaro in her wheelchair in January 2010.
The Challenged Athletes Foundation, which raises funds and awareness for people with disabilities, approached Davis in 2009 and asked her to join an expedition, which would include numerous people to help her up the mountain.
During her ascent, shown in the documentary “Through the Roof,” Erica’s team included 33 porters and three guides, to carry and help on the steepest parts of the mountain. Most of the time, Davis used her hands to propel her chair.
“From bottom to top was about five and half days with one day of rest at 12,000 feet, and there were two days that were so long. This is seven to 11 or 12 hours a day,” Davis said.
Despite the grueling trek, Davis and her team overcame the emotional and physical challenges, and on Jan. 31, 2010, they reached the top.
“It’s almost sunset when we summited so we had a really special moment up there,” Davis said. “I thought I couldn’t do sports again. Going up there and doing something so incredible like this, it’s showing everyone whether they are in chairs or not, that anything is possible.”
On April 14, Davis was awarded the Movement Therapy Advocate Award at a ceremony in Los Angeles.
Her next adventure will be to repel 33 stories over the edge of the west coast’s tallest building, the Manchester Grand Hyatt San Diego
It takes more than 1 gene…
Suppose some of these ‘bad pixels’ are known to produce periodic black-out spells on the screen. Would a sharper image revealing all of the defects help identify which of the screens works perfectly, and which one needs repair?
Seven years ago, Dr. Jeffrey Noebels (http://www.bcm.edu/neurology/noebels.cfm) , professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine, (www.bcm.edu) and Dr. Richard Gibbs, (http://www.hgsc.bcm.tmc.edu/content-home-HGSC_director-x.hgsc), director of the Baylor Human Genome Sequencing Center (http://www.hgsc.bcm.tmc.edu/), began the first large-scale sequencing project to survey nearly all the genes encoding ion channels, the electrical ‘pixels’ of the brain.
These channels are the tiny pores that allow molecules of sodium, calcium, potassium, and chloride to move in and out of the cell, creating the electrical impulses that drive signaling within brain networks. A disruption of the signaling pattern leads to epilepsy, a common severe neurological disorder.
Because the causes of most epilepsies remain mysterious, they hoped to identify specific “pixels” that might predict who will have seizures. Hundreds of subjects and terabytes of data later, Noebels, Gibbs and their colleagues at BCM found dozens of individually rare variants in the epilepsy-related ion channel genes in people who had epilepsy, and intriguingly, nearly just as many in those who did not. Why are some individuals more fortunate?
Analyzing those personal variations and how they contribute to a large picture is part of the next step in understanding unexplained epilepsy – and many other disorders linked to ion channel diseases throughout the body – including the brain, eye, ear, heart, muscle, kidney and pancreas. Typically, when a known disease gene is uncovered, a patient is told he or she is at risk for the condition. However, a better answer may lie in the patterns of all the defective channels rather than any single one of them.
“We are all born with a few erratic pixels, but luckily they do not always add up to disease. It takes a village,” said Noebels, who is also director of the Blue Bird Circle Developmental Neurogenetics Laboratory at BCM (http://www.thebluebirdcircle.com/Clinic/NeurogeneticsLaboratory.aspx) and a pioneer in genetic epilepsy research. A report on the work appears in the current issue of the journal Cell (http://www.cell.com/).
“We began looking at ion channels because they are the largest class of genes that contribute to seizures. In some families, even a single defective one is a master switch for epilepsy,” said Noebels. “But we soon realized that small defects in other channels could aggravate the problem in some individuals, or mask it in others. Instead of looking at one incriminating gene at a time and pronouncing it guilty, as is often done in single gene testing, we wanted to step back and examine them all.”
Baylor neurologists were able to recruit many people with and without epilepsy to participate in the DNA study, and together with the Human Genome Sequencing Center, a leader in mammoth sequencing projects, developed an ‘ion channel pipeline’ to analyze the DNA.
They sequenced the exomes or coding regions of 237 ion channel genes in 152 people with epilepsy and 139 individuals without epilepsy and compared the personal variation profiles they found in the ion channel genes.
“We found there were perfectly healthy people walking around with single gene mutations that are known to cause epilepsy and yet they don’t have the disease,” said Dr. Tara Klassen, a postdoctoral researcher in Noebels’ laboratory and lead author of the study. “Why not?”
The answer could rest with the way ion channels work, she said.
“Many genes in a cell have very distinct functions, and the more mutated genes you have, the worse off you are.”
Ion channels work differently. They are a family of genes that all tune the firing patterns of brain cells in small overlapping ways. They open and close at different rates and in different combinations, but together share control of the overall excitability in networks of nerves. When certain networks become overexcited, a seizure may result.
“We conclude that epilepsy may arise from a complex mixture of altered channels, and may be prevented by other channels working in the background,” said Noebels. “If one works poorly, another can compensate by working better. The combination can mask the individual defect.”
“Looking at a full profile rather than jumping to a conclusion after a single result completely changes our way of thinking about how to counsel those who might test positive for a single genetic variant,” he said.
“We now know the profile of these channel variations is more important than the presence of any single ion channel defect, and that understanding the meaning of the profile and applying it to patients will require the skills not only of neurologists, but also bioinformatics specialists and experts in devising computational models of disease,” said Noebels. “The next step is to take the ion gene profile and figure out what it means for the individual.”
This understanding could also lead to better therapy. Nearly one-third of people with epilepsy do not respond to current drugs used to treat the disorder. Many of those drugs target individual ion channel genes implicated in epilepsy.
“We also found that it was quite common for a person with epilepsy to have more than one genetic cause for it,” he said. “What if an individual has epilepsy arising from five or more defective ion channels? One drug won’t cover them all.”
This finding is a wonderful example of how we can bring personalized genomic analysis closer to everyday health care, said Gibbs. “We now know how important the pattern of rare variants found in each individual really can be.”
Others who took part in this work include Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana, Margaret Morgan and Donna Munzy, all of BCM.
Funding for the work came from the National Institute of Neurological Diseases and Stroke, the National Human Genome Research Institute, the Gillson Longenbaugh Foundation and the Blue Bird Circle Foundation of Houston.
Students and faculty from Minuteman Career and Technical High School and Cotting School pose with a wheelchair-powered vacuum, which was designed and perfected in collaboration between the two Lexington schools. Back row, from left: Minuteman students Joe Gorham of Clinton, Teddy Mahoney of Boxborough, Leif Skramstad of Sudbury, and Ben Basseches of Lexington. Middle row: Cotting Project Bridges Coordinator Molly Stone, job coach Sue DeLuca, and physical therapist Barbara DeLuca. Front row: Cotting seniors Amanda McGuire of Stoneham and Samantha Ferreri of Plymouth. Not pictured: Minuteman student Nicole Collette of Bolton and Minuteman instructor Patrick McColl.
Students and teachers from Minuteman Career and Technical High School and Cotting School, both in Lexington, collaborated on a unique engineering project which culminated in a new invention: a vacuum that is propelled by a power wheelchair.
Cotting Upper School students work in the community at different businesses as part of their vocational training through an experience-based learning program called Project Bridges, which allows the students to examine work environments at off-campus worksites for up to one semester at a time. More than 30 community businesses and organizations participated as employers and partners with Project Bridges this past year, ranging from the Waltham Museum to the Cambridge Public Library.
Last year, when two students were trying to vacuum at their job sites, Brookhaven and Lexington Health Care, they had difficulty steering the vacuums accurately. According to Project Bridges Coordinator Molly Stone, Cotting job coach Sue Deluca was noticing that the vacuums were not suitable for the students.
“[Sue] saw that the vacuums were having problems when used by the students, and they would break regularly,” Stone said. “Being the creative person that she is, Sue decided to find a solution.”
Deluca thought that vacuuming would be another way students with mobility challenges could participate in Project Bridges, and Stone took it from there.
“We as teachers talk a lot about collaboration, and this was the perfect opportunity to put that idea into use,” Stone said.
Stone sought the help of Patrick McColl, instructor of engineering design and development at Minuteman.
“I contacted Minuteman about two years ago, and we’ve been working on this ever since,” Stone said. “The kids have worked really hard at seeing the project through.”
McColl put his engineering design students to work on a prototype vacuum attachment. It worked, but not well. This past fall, he gave two seniors, Leif Skramstad of Sudbury and Teddy Mahoney of Boxborough, the task of perfecting the vacuum attachment as a senior project.
The end result? The Cotting students now have a vacuum attachment that works beautifully, including in corners and around turns, and the Minuteman seniors have a design worth patenting. The one vacuum unit will be able to be shared by students at Cotting, as it uses an industrial Velcro to attach to the power chairs, which would allow it to be interchangeable.
The students involved in the project recently got together to be recognized and give a demonstration of the unit.
“It was nice to see all their hard work pay off,” Stone said.
Stone also said that the project is symbolic of what Project Bridges is all about.
“The students do all sorts of jobs in different cities and towns across the region, and the local businesses get very involved in their partnerships,” Stone said. “The businesses in the community are very loyal and dedicated.”
Read more: Lexington schools collaborate to design wheelchair-powered vacuum – Lexington, MA – Lexington Minuteman http://www.wickedlocal.com/lexington/archive/x536826963/Lexington-schools-collaborate-to-design-wheelchair-powered-vacuum#ixzz1Q86e55jN
UC Riverside neuroscientists discovery could bring relief to epilepsy sufferers – Maxim Bazhenov and Giri Krishnan used computational model to study epileptic seizures at the molecular level; research could lead to novel therapeutics for seizure disorder.
Researchers at the University of California, Riverside have made a discovery in the lab that could help drug manufacturers develop new antiepileptic drugs and explore novel strategies for treating seizures associated with epilepsy – a disease affecting about two million Americans.
Neurons, the basic building blocks of the nervous system, are cells that transmit information by electrical and chemical signaling. During epileptic seizures, which generally last from a few seconds to minutes and terminate spontaneously, the concentrations of ions both inside the neuron and the space outside the neuron change due to abnormal ion flow to and from neurons through ion “channels” – tiny gateways that are embedded to the surface of the neuron.
Ordinarily, intracellular (inside the cell) sodium concentration is low compared to extracellular sodium (the reverse is true of potassium). During seizure, however, there is a buildup of intracellular sodium, with sodium ions moving into neurons from the extracellular space, and potassium ions doing the opposite.
To understand exactly how neurons function during epileptic seizures, Maxim Bazhenov, an associate professor of cell biology and neuroscience, and Giri P. Krishnan, a postdoctoral researcher in his lab, developed and used realistic computer simulations in their analyses and found that while there is a progressive and slow increase in intracellular sodium during seizure, it is this accumulation of intracellular sodium that leads to the termination of the seizure.
“According to our model, sodium concentration reaches a maximum just before the seizure terminates,” Bazhenov said. “After seizure initiation, this intracellular sodium buildup is required to terminate the seizure.”
The researchers’ computational model simulates the cortical network. (The cortex is the outer layer of the cerebrum of the mammalian brain. A sheet of neural tissue, it is often referred to as gray matter.) The model simulates neurons, connections between neurons, variable extracellular and intracellular concentrations for sodium and potassium ions and variable intracellular concentrations for chloride and calcium ions.
Bazhenov explained that conventional antiepileptic drugs are commonly designed to target various sodium channels in order to reduce their activity.
“These drugs essentially slow down the intracellular build-up of sodium, but this only prolongs seizure duration,” he said. “This is because seizure duration is affected by the rate of intracellular sodium accumulation – the slower this rate, the longer the seizure duration.”
According to Bazhenov, targeting the sodium channels is not the best approach for drugs to take. He explained that even for drugs to increase the activity of the sodium channels (in order to reduce seizure duration) there is an undesirable effect: seizures become more likely.
“The drugs ought to be targeting other ion channels, such as those responsible for the buildup of intracellular chloride,” he advises. “According to our model, restricting the chloride increase would lead to a faster termination of seizure and can even make seizures impossible.”
Bazhenov and Krishnan’s model also shows that the occurrence of seizures depends critically on the activity of ionic “pumps” – structures that are also embedded to the surface of neurons. These pumps help remove the sodium and chloride ions from inside the neurons and critically influence their concentrations in the brain.
Study results appear in the June 15 issue of The Journal of Neuroscience.
The research was supported by a grant to Bazhenov from the National Institutes of Health.
Epilepsy is a chronic neurological condition characterized by recurrent seizures – involuntary changes in body movement or function, sensation, awareness or behavior. The seizures are caused by abnormally excited electrical signals in the brain. It is estimated that about 10 percent of people will experience a seizure some time during their lifetime; about 3 percent will have had a diagnosis of epilepsy by age 80. Epilepsy cannot be transmitted from person to person. No definite cause for epilepsy has been identified.
The University of California, Riverside (www.ucr.edu) is a doctoral research university, a living laboratory for groundbreaking exploration of issues critical to Inland Southern California, the state and communities around the world. Reflecting California’s diverse culture, UCR’s enrollment has exceeded 20,500 students. The campus will open a medical school in 2012 and has reached the heart of the Coachella Valley by way of the UCR Palm Desert Graduate Center. The campus has an annual statewide economic impact of more than $1 billion.
Affordable Care Act (ACA) Pre-existing Condition Insurance Plan Changes
Share Getting health coverage for individuals with pre-existing conditions is now a lot easier—and in some cases, more affordable—thanks to recent changes to the Pre-Existing Condition Insurance Plan (PCIP). On May 31, 2011, the U.S. Department of Health and Human Services released new eligibility standards for the PCIP, created by the Affordable Care Act (ACA), that will go into effect on July 1, 2011.
“We’re very excited about this,” says Lee Page, Paralyzed Veterans of America associate advocacy director, noting that Paralyzed Veterans of America has been working on pre-existing conditions and related issues in various capacities for more than seven years.
“Getting rid of the lifetime cap [lifted January 1, 2011] was a major victory for individuals with spinal cord injury or disease—it was so easy to blow through a million dollars,” Page says. “Having pre-existing condition insurance is also huge, because so many people get disqualified—not just someone like myself, with a permanent disability, but those where smoking or alcohol or heart disease figures in.”
Already PCIP’s impact has been profound. Participants in the federally administered plan get primary and specialty care, hospital care, maternity care and preventive health care. Skilled nursing care, prescription drugs, home health and hospice care are also included.
When expanded standards go into effect, people will be able to prove eligibility simply by providing a letter from a doctor, physician assistant or nurse practitioner. It must be dated within the past 12 months and state that he or she currently has—or at any time in the past had—a medical condition, disability or illness. A previous age requirement that limited participation to children under 19 also has been lifted. Now, all U.S. citizens or legal U.S. residents can enroll—providing they have been without health coverage for at least six months. More details about the program are available at pcip.gov/FAQs.
Some current PCIP enrollees will see premiums fall by as much as 40 percent in some states. Letters that began mailing in early June will include the amount of their new premium effective July 1, 2011, and will explain what to do if they have paid future months’ premiums and need a credit adjustment. To view the current rate for a specific state, visit the “State Plans” section of pcip.gov.
Created as a transition program to provide comprehensive health coverage at the same price healthy people pay, PCIP will by replaced in 2014 by a new competitive marketplace call an Exchange, which will offer affordable, qualified health insurance choices for individuals and small businesses.
“Right now, the ACA’s pre-existing condition plan is breakthrough,” Pages notes. “But by 2014 all insurance policies across the board have to accept people, regardless of illness, condition or disability.”
DPAC is happy that Steven Sumpter did us an expanded version of a post that originally appeared on his own blog.
Last Sunday the Sunday Times ran a front page story under the headline “State hands out BMWs to ‘disabled’”. It was factually incorrect in both the headline and in several points made in the article. Although the headline attacked the very concept of people that receive disability benefits daring to own a high end car, the bulk of the story went on to talk about relatives and carers using the cars without the disabled person present. The same story appeared in numerous national and local newspapers. The story in most of the local papers was actually word-for-word the same – just google “Flash cars leased to disabled people” to find many examples of it.
I don’t think I can put this any more simply: the government does not hand out cars to disabled people. What actually happens is that the most severely affected sick or disabled people can claim Disability Living Allowance, which includes a mobility component. Those people receive money to spend as they choose, perhaps to buy a wheelchair or to go towards taxi fares. Many choose to sign over all of the mobility part of their DLA to the Motability scheme, a scheme which is not government run, and in return for their money they receive a car, a wheelchair or a scooter. They can also choose to pay an extra fee to upgrade to one of the more expensive cars available through the scheme. In the case of a BMW, that would be at least an extra one thousand four hundred pounds, paid upfront, out of the customers own pocket. A Motability car can be used by another person on behalf of the sick or disabled person without them being present, for example going shopping for them, or perhaps transporting an item across town for them. If a Motability car is used by someone else for their own purposes, that is a breach of the rules of the Motability Scheme and potentially raises issues because the car is exempt from vehicle tax and was not subject to VAT. Such use does not involve benefit fraud since the DLA would have been paid to the sick or disabled person, whether they had a car or not. Relatives or carers getting a so called “free car” and using it for their own purposes are doing so at the expense of the sick or disabled person, not through benefit fraud.
These stories about relatives getting “free cars” and about people receiving BMWs through Motability are worrying because they seem to originate from the government. The Sunday Times article does not mention it, but the story that was duplicated in lots of local papers quotes “a Whitehall source” who would seem to be the only reason that this is a story at all. The quotes from this source are anecdotal in nature, with lines such as “my neighbours have got this car and it’s for their granny, but they ride in it” and the emphasis seems heavily weighted towards attacking the Motability scheme and smearing the reputation of those that use it.
This is not the first time that anonymous government sources have provided stories to newspapers sympathetic to government policies. (And only newspapers sympathetic to government policies.) In a previous attack, government ministers released a select list of the most outrageous excuses for benefit fraud Of course, the excuses were bizarre and most of these cases really were fraud, but no mention was made of the incredibly low rate of benefit fraud, below 1%, and how few cases such excuses represent. The papers also took the opportunity to belittle addiction and “bad backs” as disabilities, despite them often being crippling and life-destroying. The commonly quoted back pain, for example, can cover many problems such as degenerative spine conditions, botched surgery causing nerve damage, and curved spine.
At the start of the month another attack aimed at the rise in numbers claiming DLA and again belittling “back pain” as well as mental health and addiction, several mainstream newspapers quoted a “source close to the reforms.” We are not told who exactly this information came from, and yet it appeared in several newspapers at the same time. I have been unable to find a press release that correlates to this information, and so I must assume that the figures have been leaked to preferred newspapers by someone in government.
Then we have government ministers giving out inaccurate or just plain wrong statistics. Last month minister for the disabled Maria Miller announced on live television news that more people receive benefits for drug and alcohol addiction than for blindness. Actually, official figures show that 69,000 people receiving benefits list blindness as their primary condition, against 22,800 who list alcohol and drug addiction. Apart from the error, this is an example of a government minister distinguishing the deserving from the undeserving, something that David Cameron seems anxious to deny even while perpetuating the idea. Earlier this year employment minister Chris Grayling stated to the press that 75% of people claiming Employment and Support Allowance were found fit to work, however, that included 39% who withdrew their claim before it was complete for reasons unknown and 16% who were placed in the work related activity group to receive support towards eventually going back to work. Still, the Daily Mail enjoyed it.
Ian Duncan-Smith recently stated during an interview on Newsnight that people on benefits are “putting nothing back into the community” which if not an attack at least shows a disturbing lack of knowledge about how such people live. Certainly in all the places that I have lived in many not in paid employment have put the most back into their communities through volunteering and caring. Even the opposition seems to be getting in on the act, with Ed Miliband talking about going after the “take what you can culture” and branding benefit claimants as lazy shirkers and cheats. Presumably this is seen as the way to attract votes and popularity these days.
A visitor to my blog suggested an explanation to the mysterious sources quoted in so many newspaper stories recently. He said:
“A Whitehall source” normally means Departmental special advisers (SPADS), party hacks who are paid out of public funds to work as political advisers in Government departments. As a relatively senior ex-Civil Servant I have no doubt that this campaign is being orchestrated by a combination of SPADS and Conservative Central Office with the tacit approval of Ministers. I’ve seen it before, although not a campaign as nasty and squalid as this.
This explanation does seem plausible, although I am not sure how anyone would go about proving it. Wherever they come from, these attacks add up to something very disturbing. The government is rushing through welfare reform with only an occasional speed bump when people raise specific issues – such as cancer patients that won’t have enough time to recover if their ESA is limited to just one year. It is worth noting that when Ed Miliband highlighted these 7,000 cancer patients, he didn’t mention the other 700,000 seriously sick or disabled people that will be affected by the same time limit rules.) The pace of savage cuts and reforms justified by rhetoric and propaganda is terrifying and seems to be taking us towards a society that no longer cares for those who are sick or disabled.
here is a link to the good people a DISABLED PEOPLE AGAINST CUTS And the original story thankyou to them for allowing me to repost.