Friday, February 26, 2010

Great Videos Explaining What SMA Is

Here are some excellent videos by FightSma that explain what SMA is. Shira has SMA type 1.

An Introduction to Spinal Muscular Atrophy - Dr. Bob Leshner

Spinal Muscular Atrophy Type 1 - Dr. Bob Leshner

Spinal Muscular Atrophy Type 2 - Dr. Bob Leshner

Spinal Muscular Atrophy Type 3 and Type 4 - Dr. Bob Leshner

Friday, February 19, 2010

The physician-scientist, the state, and the oath: Thoughts for our times

"What, then, constitutes medical humanism? I would suggest four core values: First is the preciousness (or sanctity) of each human life. The second value is respect for human dignity. The third core value of humanism is the celebration of human diversity. Finally, the fourth core value of medical humanism is a sympathetic appreciation of the complexity of the human condition- how difficult it is for anyone to meet all of society's idealized expectations regarding individual and interpersonal behaviors, and how history and circumstances have conspired to make it especially difficult for some."~ The physician-scientist, the state, and the oath: Thoughts for our times Barry S. Coller

Read The Full Paper Here: Top right hand corner full text pdf

Tuesday, February 16, 2010

Sophia Doebbert and Dr. Mary Schroth, Our American Family Children's Hospital

There are some doctors that are real heroes. Dr. Mary Schroth is one of these heroes. Rarely do you see this amount of compassion from a Doctor but Dr. Schroth really cares about all her patients so much. Maxine flew to Wisconsin to meet with her because we were advised by Doctors at B.C. Children's Hospital not to contact U.S. doctors because they wouldn't be there for us in our time of need. Maxine was met at the door of the hospital by Dr. Schroth and the social worker. Dr. Schroth (the for profit doctor) spent 3 hours with Maxine.

While we witness children failing extubation all over the U.S. we see them flown to Wisconsin to be succesfully extubated. Doctor Schroth sees our children as human beings that are valued members of our society.

This video is of Sophia Doebbert from Minnesota. Though we haven't met her we feel very close to this family. Doug and Andrea have been great support for us sharing their knowledge and just being there for us, to listen to us. Watch this video

Tuesday, February 9, 2010

Sunday, February 7, 2010

What Is a Life Worth? Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.

What Is a Life Worth?
Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.

By Sharon Begley | Newsweek Web Exclusive

Feb 5, 2010

This is the kind of news that unleashes hysteria about "death panels" and "health-care rationing," but here goes: an analysis of genetic screening for an incurable, untreatable disease called spinal muscular atrophy shows that it would cost $4.7 million to catch and avert one case, compared with $260,000 to provide lifetime care for a child born with it. So here's the question: do we say, "Damn the cost; it is worth any price to spare a single child the misery of being unable to crawl, walk, swallow, or move his head and neck"—or do we, as a society, put on the green eyeshades and say, "No, sorry, we can't afford routine screening"?

Just to be clear, this is not about comparative-effectiveness research, which analyzes whether treatments work and which ones work best, without regard to cost. In contrast, studies of cost effectiveness, like this one, take something that works and ask whether the cost is worth the benefit. There is no question that screening for the genetic mutation that causes spinal muscular atrophy works, in that screening detects the mutation in 95 percent of those whose DNA has it. If a couple decides not to conceive (if they were screened before trying to start a family, they can instead use donor sperm, for instance), to implant only healthy embryos (if they are using in vitro fertilization), or to terminate the pregnancy, then a child with SMA is not born.

The study presented Thursday at the Society for Maternal-Fetal Medicine’s annual meeting starts from this "screening works" premise. What, asked Sarah Little of Massachusetts General Hospital and her colleagues, would be the costs and benefits of universal screening?

Here's the numbers-heavy paragraph. One in 50 Americans carries an SMA mutation. Because carrying one copy of the mutated gene causes no symptoms, people don't know if they're carriers (though having relatives with SMA should raise suspicions). If two carriers conceive a child, however, there is a 25 percent chance the child will have SMA, which is the most common genetic cause of infant mortality. About 1 in 10,000 babies are born with SMA. Of those children, 70 percent have a severe form of the disease, in which newborns are limp and floppy, cannot lift their heads, and have difficulty rolling over, sucking, and even swallowing. Universal screening detects 95 percent of carriers, and 2 percent of babies born with SMA have the disease even though neither mom nor dad is a carrier (the gene mutated after conception). Screening costs just over $400 and lifetime care for someone with severe SMA costs $260,000. For an individual, that seems like a great deal. But throw all of this into a calculator for society as a whole, and the answer is this: 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted.

Since the $4.7 million cost of averting one case of SMA swamps the cost of having a child with SMA, the brutal conclusion is that "screening everyone for SMA is not cost-effective," concluded Little and her colleagues. Only in people with a high risk of the disease, such as those with a family history of SMA, might it make sense.

Screening for SMA has been controversial for years. In November 2008, the American College of Medical Genetics recommended making carrier screening for SMA available to all families. But last May, the American College of Obstetricians and Gynecologists came out against preconception and prenatal screening for everyone, largely because you would have to test so many couples to avert a single case of SMA. The appeal of screening for genetic diseases seems obvious, however, and new companies are springing up to give parents-to-be the assurance they want.

So here's the issue. What if an insurer or (horrors!) "Obama-care" refused to cover SMA screening because it is not cost-effective? Judging by the hue and cry over the very idea of using cost-effectiveness to make coverage decisions (something that was never in any of the health-care bills), millions of people would be appalled—especially once the first SMA baby was born after his parents' insurer refused to pay for a genetic test. Unconsciously or implicitly, then, many of us are in favor of paying $4.7 million to let a couple know that their fetus has SMA. But as we've seen in the public hostility toward health-care reform, there is deep ambivalence about how much of our hard-earned money we are willing to spend to avert preventable deaths in people who die because they do not have health insurance. For many Americans, that answer seems to be "not one dime." It's the old story: we respond to specific cases of tragedy when they come with a name and a face, but grow cold and uncaring when the unfortunate are nameless masses.

More such cost-effectiveness analyses of various medical treatments are in the works. The question is, how will American doctors, insurers, patients, and others use the information? Research has already shown that digital mammography, for instance, is not cost-effective compared to plain old film mammograms, but because of the power of breast-cancer groups, insurers have been loath to tell patients, "no, sorry, not worth it." And when Britain uses such analyses to decide what its National Health Service will pay for, Americans go crazy. (This fear is the basis for the false claim in ads featuring former surgeon general C. Everett Koop that he, as a 93-year-old, would not be allowed to receive a pacemaker or joint replacement under the British system.) At least the Brits apply the guidelines about what a life is worth consistently.

Sharon Begley is NEWSWEEK's science editor and author of The Plastic Mind: New Science Reveals Our Extraordinary Potential to Transform Ourselvesand Train Your Mind, Change Your Brain: How a New Science Reveals Our Extraordinary Potential to Transform Ourselves.

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Friday, February 5, 2010

Respiratory Care Options For Children With Neuromuscular Weakness by Dr. Mary Schroth

This is a very important video to watch if you want to have a deeper understanding of the treatment and care of SMA or Spinal Muscular Atrophy. Dr. Schroth goes through all the modes of care from daily care to intubation and extubation, non invasive vs. tracheotomy, and more a must watch!! click on the link below to watch the video

Wednesday, February 3, 2010

When Talking Is Not Enough

When Talking Is Not Enough

By Maxine Fisher
Posted: Monday, February 1st, 2010

"Music can name the unnamable and communicate the unknowable." -Leonard Bernstein

Music therapy, as defined by the Canadian Association for Music Therapy, is the skilful use of music and musical elements by an accredited music therapist to promote, maintain and restore mental, physical, emotional and spiritual health. Music has nonverbal, creative, structural and emotional qualities. These are used in the therapeutic relationship to facilitate contact, interaction, self-awareness, learning, self-expression, communication and personal development.

Humans hear and experience sound for the first time in the womb when they hear the mother’s heartbeat, breath and muffled voice. From the moment of birth, loved ones' voices are recognized through the musicality of their speech.

Most people have been deeply moved by a piece of music during their lives. Songs can be used to create a retrospective road map of those lives. Think back to those songs from childhood, teens, 20s, 30s and onwards; humming a tune can bring back old memories while particular songs are often associated with a person or place. Music is universally accessible to individuals as well as groups of people, and to experience music, one does not have to have formal musical training. Music Therapists bring music to clients to enhance and improve their lives. Music heals, relieves tension and energizes. Singing and playing instruments in a safe environment with others brings joy and a sense of community and allows people to express their feelings. Song lyrics often describe inner thoughts and bring about discussions.

For many years, Music Therapy has been successfully used to assist people who struggle with physical and emotional issues. In one case, music helped a stroke survivor who was unable to speak with words. However, he was able to sing words to familiar songs and even say a few words following the song.

Often, people with dementia (including Alzheimer's) experience moments of joy and clarity when singing familiar songs. Family members, at times, have joined in song and expressed how relieved they were to see their loved ones having a break from confusion and observed how much more present they were. Using familiar songs, Music Therapy can “facilitate reality orientation and stimulate long and short term memory," says Music Therapy Association of British Columbia's Vice-President Kevin Kirkland.

Live music has a different impact than recorded music. Singing a familiar song directly to someone, making eye contact, observing their breathing and matching it with the rhythms in the song, all contribute to bringing that person back into the moment and participating in the basic human interaction of sharing music.

Many people say they cannot sing well or do not have a good voice. One woman, who could only whisper due to an operation on her vocal chords, came to the music group and sang along. Although her voice was barely audible, her joy and enthusiasm while singing was extraordinary. It is not how we sound to others, but how we feel when we sing that brings a song to life. It brings joy to others and us when we join in song.

Some residents always stay in their rooms and do not participate in senior facility events. For these people, a visit to their rooms with the introduction of songs often brings them great joy and inspires them to join the music group, socialize and have fun.

In independent and assisted living, seniors have said they look forward to the music groups. Participants are encouraged to request songs and the members choose from a variety of new and familiar songs. As time goes on, many participants in the group sessions show a strong desire to try instruments they may not have chosen to play during the first few sessions. Learning new skills keeps brains functioning at a higher level. Everyone wants to continue learning and experiencing the best that life can offer.

Music can be shared in many different environments. Home visits allow people to experience the joy of music in their own familiar environments, while being offered opportunities to make choices and express themselves through musical activities specifically designed for them. Some of the seniors I have worked with in their own home have experienced a loss, are dealing with an ongoing illness, have suffered a stroke or have the onset of dementia. Music Therapy sessions offer relief to family and caregivers when they see their loved ones participating in and enjoying music.

Maxine Fisher is accredited by The Canadian Association of Music Therapy and has been working with seniors, families and children for over 16 years.