New Video Of Shira's Adventures

Here's a new video of some of my favorite photos and videos of Shira from the past and recently.  Enjoy.  Brad

MASTERY OF MIND OPENS AVENUES OF HOPE

 Change your attitude, look past yourself and deliver the care your child needs.  Remember it's not the caregiver who is sick and needs help it's the patient.  We have to move past anticipatory grief, spend time with our children that is where our healing lies in the time we spend with our children.  

All that we are is the result of what we have thought.
   – The Buddha

"Our destiny is in our own hands. Since we are formed by our thoughts, it follows that what we become tomorrow is shaped by what we think today.

Happily, we can choose the way we think. We can choose our feelings, aspirations, desires, and the way we view our world and ourselves. Mastery of the mind opens avenues of hope. We can begin to reshape our life and character, rebuild relationships, thrive in the stress of daily living – we can become the kind of person we want to be." ~ Eknath Easwaran

"The door that locks you in, is also the door that lets you out."-Sri Nisargadatta Maharaj

TAKE YOUR TIME

"Personal relationships, of course, not only take time, they take 'quality time.' This is especially true with children, where what matters is not only the number of hours we spend but also the attention we give, the love we show, the extent to which we enter into the child's world instead of dragging him or her into our own. Schedules are fine at the office, but children have a sense of time that is very different - and much more natural. They don't know about appointments and parking meters and living in the fast lane, and we cannot make them understand. All we can do is hurry them along.

"We adults can learn to slow down enough to enter their world; it's not their job to speed up and join ours. Where is the hurry?"

- Eknath Easwaran, from "Take Your Time"

 

Shira's 8th Birthday Party Video

Shira's fantastic 8th birthday party!!!  We are so thankful to still have Shira with us.  We love you Shira!

The AA Diet, Low Fiber and Fecal Compaction

The AA Diet, Low Fiber and Fecal Compaction I would just like to start off by saying that I believe that most of you SMA Type 1 parents will be able to take their children off of Mirilax and other stool softeners by adding fiber and more hydration to your child's diet. There are always contradictions but I have calculated a lot of diets and the one thing missing from the AA Diet is an abundant fiber source. After 61/2 years of using Mirilax and Pedialax Shira is now having consistent bowel movements on her own. Please read about our experience below and try adding fiber to your child's diet I think you will be amazed! Also remember to make sure your child is calculated optimally and properly hydrated before adding fiber to your child's diet. Consult your physician or dietician first;) Hi everyone we are back from our trip to Disney. In all we drove over 4000 km this trip and it was not without some health glitches I would like to discuss. As many of you know I calculate a lot of diets for people. Well I’m sorry to say that I was negligent when it came to Shira’s diet and it only drove home the importance of following my own theory of 1) calculate optimally and 2) re calculate often. I had measured and weighed Shira about a month before leaving but never got on it. I just figured I’d up her water in her diet to deal with the low humidity and heat in California. Unfortunately Shira developed a severe case of constipation! It was so bad she didn’t pass a bowel movement for almost 2 weeks. A grapefruit size ball was sitting in her stomach and at her worse she refluxed. HOW I DEALT WITH SEVERE CONSTIPATION The first thing I did was re calculate Shira’s diet. This is embarrassing for me but I’m sharing it to show the importance of re calculating diet often especially when our children have growth spurts. Shira was about 425 mls of fluid under where she should be. The first thing I did was added 425 mls more water to her diet. This still did not allow Shira to pass a bowel movement. After about 3 days I was giving Shira enemas using a 60 ml syringe in the bathtub of the hotel. I was doing this 2 or 3 times a day with no luck! I was getting worried to say the least. Luckily we had a few contacts down south and we ended up at Kennedy Swann’s doctors Dr. Cramer. We started Shira on the same drug they use for men needing a colonoscopy and we thought this would clear Shira out. Of course I’m very concerned about adding so much more liquid into Shira’s diet with such a constipated stomach. Our kids are stomach breathers and we try and avoid doing anything that will hamper their ability to breath easily. Anyways after giving Shira the oral medicine every 4 hours we also tried dealing with the constipation using a suppository (dukolax) from the other end. Shira started passing a little stool but not enough! We took Shira to the ER at Choc and had her x rayed and boy was she constipated. The ER doctor at CHOC was very thorough also and was interested in Shira’s diet believe it or not. He advised I give Shira something easier on her stomach like milk of magnesia but also increase Shira’s water (which I had already done) and add fiber to her diet. Maxine went to the healthfood store and purchased some TripleFiber by renew life and we added a dose to her daily dose of food. At this point I was still giving Shira 3 enemas a day with no results. Shira had refluxed and I had started her on antibiotics I brought because she also had a fever. I’m freaking out at this point also because of insurance reasons. I just wanted to get home in case we needed to be hospitalized. So now we had increased Shira’s daily water intake, added fiber to her food and I started giving her Senna leaf to make her have a bowel movement and I was still giving her half a dose of Dukolax every day. I was going through whole boxes of pedialax and giving shira an enema and nothing was working. Finally by the time we hit Portland about 8 days after Shira’s constipation started she had a bowel movement. I kept up with the pedialax, dukolax and Triple Fiber and by the time we got home Shira was having some strong consistent bowel movements. I also started to notice that Shira was now having a regular bowel movement in the morning without the use of Mirilax or pedialax! It’s now been 5 days since we have used any drug and the only thing different in Shira’s diet has been the addition of the fiber as well as the diet being calculated optimally and timely! I have calculated a lot of diets for parents and like Shira they were all on mirilax (or some other form of stool softener) or pedialax but no fiber in their diet. I would now like to recommend that anyone on the AA Diet with a Mickey Button (G tube) add a dose of fiber to their childs diet I believe you won’t have to use anymore Mirilax. Shira was on Pedialax and Mirilax for almost 61/2 years and we are off it completely now and her stool is healthier than ever! The brand of fiber we use is TripleFiber by RENEW LIFE. REMEMBER CALCULATE YOUR CHILD’S DIET OFTEN AND OPTIMALLY AND ADD FIBER TO IT! Let me know if you can also remove your child from Mirilax after adding fiber to their diet but before adding the fiber consult with your doctor and make sure your diet has been re calculated to insure your child is properly hydrated!

Where's Molly?

We have a few documentaries at home and Sammy is at an age where today he asked me if he could watch Where's Molly http://www.wheresmolly.net/ Years ago we were on the news advocating to get all the medical equipment we needed to keep Shira at home and care for her, get her injections to ward off illnesses etc. When we were on the news we had many calls from people that wanted to take Shira off of our hands and care for her. Yes caring for people is a business and when a person is extremely disabled the caregivers get even more money. This documentary came into my life a year after we started advocating hardcore for Shira and sometimes you just need something to grasp onto that justifies your actions and re affirms you are doing the right thing. This video is one of them. We realized watching this video that our "regular" son would be a better person having his sister at home. Today Sammy watched this movie and had a lot of questions he couldn't understand why a family would give up a child just because they had a disability. We are so proud of who our son is, that he doesn't categorize and separate people. Our hearts are constantly challenged by Shira's ongoing struggles and we'd be lying if we said we didn't suffer from moments of anticipatory grief . We live deeply in the present experiencing the joy our two amazing children give to each other. We've watched this documentary countless times and believe it is important to watch so that the confused can become enlightened and the knowing can be justified in their actions and life.

Shira Playing In Her Sling

Physio Therapy and The Vestibular System

Shira and Maxine Singing

The Bridge Of Life by Brad Fisher

The Bridge Of Life by Brad Fisher
Lech Lecha. G-d said to Avraham, “Go (further) away-for your (own benefit)-from your land, your birth place and your father’s house, to the land which I will show you.(Parshas Lech Lecha)” I’m not the most religious Jew but I am spiritual and I identify deeply with my culture and heritage and religion. I’m the father and main caregiver to a 6 year old beautiful little girl who was only given 2 years to live. There are moments I deeply identify with Avraham being sent by G-d to an unknown land.

I just returned from a Canada Day celebration that we were not able to attend at the last minute because our daughter Shira lost her vital signs and went into respiratory arrest as I was parking at the event. It’s moments like these I feel I’ve been sent to an unknown land. I don’t have time to think of anything at times like this but work on our daughter and make her live. I suctioned the secretions from her mouth like mad with one hand while pulling the thick secretions out of her mouth and nose with my other hand. I was standing on the edge of the abyss again watching our beautiful little girl slip away into G-d’s hands as I desperately worked on her to keep her with us.

Our daughter suffers from the number one genetic killer of infants and toddlers called SMA Type 1 or Spinal Muscular Atrophy Type 1. 1 in 40 people carry the gene and one in 5000 babies are born with it. It is considered such a serious threat that it’s included in the updated version for the genetic screen for Ashkenazi Jews even though the rates aren’t higher for this population over the rest of the population. At 4 months of age Shira was diagnosed with SMA because we noticed she was not meeting regular physical developmental milestones. Days like today (reviving our daughter) are not uncommon and our lives are governed by the 24 our multi-disciplinary intensive care we deliver to our daughter Shira.

I’m crying as I write this, tearful, fearful, shaken to the core of my soul once again. I hear our daughter’s beautiful little voice echoing from the other room as she lays on the floor playing with her bubby. When Shira was diagnosed we were told, “There is nothing you can do just take your child home and love her until she dies.” In some ways this statement echoes true for all of us even those of us with regular healthy kids. We all take our children home and love them until they or we die don’t we. What a thing to say to a patient and her family. Shouldn’t the more appropriate response after diagnosing anyone with a terminal illness be we can’t cure your daughter of this disease but we can support you in caring for her and help you deliver a high quality of life to her? What drives doctors to be so HOPELESS? In our world we believe there is only endless HOPE not a hopeless end. There is also a big difference between delivering daily care to a person with a life threatening illness and just diagnosing them with an illness. Most doctors have never had to care for a sick human being they just advise other’s on what to do and I’m sure 50% of the time the advice is riddled with personal biases and no experience to base the advice on. We have only met one doctor who said, “I have no experience with this illness but together we will find out what to do, create a plan and implement it.” We have realized that doctors are people to and suffer from the same daily afflictions the rest of the population suffers from and so great care must be taken when prognosis and advice is given. You must be on your toes and advocate for your child at every moment, due diligence becomes second nature and conventional wisdom must be locked away.

When death is near and has been fended off again you can’t help but feel you are walking on the Bridge Of Life (Gesher Hachaim). It’s thought that the bridge of life is a bridge between past and future. When people ask me if I have received any gifts from my experience caring for our daughter or learned anything I respond with, “ I have never been so present, I don’t have time to think of the past and I certainly don’t think of the future because the future almost always does not include being with our beautiful daughter. Being completely present, in the moment, aware of our daughter’s breath, this is the gift!” “ (Tehillim 34:13) If someone wants to live (a true life), he must “love days” – love his days to the extent that they should not be lost, but remain preserved for him(Gesher Hachaim by Rabbi Tucazinsky).” Another soul shaking lesson I have learned is visit the sick. Compassion without Action is empty and one must act and actually do something that will benefit someone in need. Bikkur cholim or Visiting The Sick has become a passion of mine. Until our daughter was born I’m afraid I did not do my share of visiting the sick. If I could pass on any advice from our families experience it is to reach out, visit and help out those in need after all it’s a Mitzva (good deed). We have felt so lonely at times, abandoned, and left out. Yes illness is scary but you will find when you get to know these people, children, with life threatening illness you will increase the joy and remove a lot of the oye from your own life.

Another question we are often asked is what keeps you going? Why do you do this? Well we love our daughter and we would do anything for her is our reply. The second answer I give is a quote from a Hasidic Sefer (from a book titled Wrestling With The Angel Published by Schoken) I read when our daughter was about a year old that gave us comfort, peace and hope. “How will we recognize those we loved when we meet them after 120 years in the world-to-come? If they died young, will they have grown old? If they were hurt or wounded, will they have healed? How will we know them, how will they know us if we have changed or aged? The answer is that we will know them, we will recognize them because they will be clothed and cloaked in the mitzvahs we do in their name.”

Advances in supportive care have altered the natural history of SMATherapeutic developments in spinal muscular atrophy Sage Pub. April 2010

Advances in supportive care have altered
the natural history of SMA
Any review of therapy for SMA would be remiss
without a discussion of the important and evolving
role of multidisciplinary supportive care.
SMA leads to predominantly proximal muscle
atrophy and weakness, and the potential for medical
complications such as scoliosis, joint contractures
and ventilatory impairment [Wang et al.
2007]. This latter complication is primarily the
result of respiratory muscle weakness, which
prevents the normal expansion and clearance of
the lungs leading to a restrictive defect. In recent
years, advances in pulmonary care and the
increasing application of noninvasive ventilatory
support has dramatically improved the morbidity
and mortality associated with pulmonary decline,
particularly among children with severe (type 1
and 2) disease phenotypes [Oskoui et al. 2007;
Bach et al. 2001, 2000]. Improvements in physical
therapy management and advances in surgical
approaches to scoliosis, including the use of
vertical expandable prosthetic titanium rib and
related ‘growing rods’ approaches [Hell et al.
2005], have allowed a more effective and timely
management of secondary musculoskeletal complications.
The optimization of nutritional management
to avoid potential complications arising
from both malnutrition [Messina et al. 2008] and
obesity [Sproule et al. 2009] has also emerged as
an area of increased attention in recent years
[Wang et al. 2007].
In the context of such advances to supportive
care, a notable improvement in the natural history
of SMA has been observed over the last two
decades despite an absence of efficacious therapy;
this is particularly true for children with SMA
type 1. Byers and Banker described 25 such subjects
in 1961 with a mean age at death (n¼23) of
10 months (range 17 days to 52 months), and a
mean age of 17 months in those who survived
(n¼2), range 10 24 months [Byers and
Banker, 1961]. A similar report by Zerres and
Rudnik-Schoneborn published in 1995 found a
survival probability of 32% at 2 years, of 18% at 4
years, of 8% at 10 years, and of 0% at 20 years
among 197 children with SMA type 1 [Zerres
and Rudnik-Schoneborn, 1995]. A recent analysis
of 143 patients with SMA type 1, comparing
those born from 1980 to 1994 (n¼65) with those
born between 1995 and 2006 (n ¼ 78) showed a
70% reduction in risk of death in the latter group,
likely associated with improvements in clinical
management, particularly with regards to noninvasive
ventilatory management [Bach, 2007;
Bach and Bianchi, 2003; Bach et al. 2000], and
a trend toward more proactive care [Oskoui et al.
2007]. While recent efforts have been made to
standardize clinical care with the publication of
a consensus statement of care for patients with
SMA [Wang et al. 2007], variability of clinical
care between centers and the evolving natural
history of the disease can both represent challenges
for trial design, as we discuss below.

Anyone wanting the full research paper send me an email to asonginthisworld@gmail.com and i'll send it to you.

My Take On The FightSma Conference Addendum

Here is something very interesting Sarah the dietician at the conference
really was negative about elemental amino acids and then mentioned
there are other choices like poly peptides like she Knew something we
didn't. here is some info from Dr. Bach which again is about 10 years
old

"Harpey et al. felt that there was a significant improvement in... "text_exposed");''>See More strength and function for 13 patients treated
with modified diets that provide high carbohydrate and elemental amino
acids and small chained polypeptides, such as Tolerex and Pediatric
Vivonex (Novartis, Minneapolis). (4) Although 90% of SMA type 1 patients
have been reported to die by 1 year of age, none of our 30 SMA type 1
patients using this diet have died and the oldest are now 8 years of
age. Therefore, I recommend prescription of Pediatric Vivonex for
infants with a diagnosis of SMA Type1."

I can't believe how totally unprofessional this woman is. She obviously hasn't done much research because if she is only coming up with this info now which Dr.
Bach published almost 10 years ago we aren't in very good hands are we!

My Take On The FightSma Conference

First off I would like to say thank you to FightSma for doing this as its very important to have lots of open dialogue on all of the subjects of SMA.

I do have to say that I shudder when a parent with a toddler with SMA type 1 starts to ask questions and through the questioning we find out they have no equipment and the child is having trouble sleeping among other things. This tells me we haven't come very far with the treatment and care of SMA and still have a mountain to climb to make the medical community understand that there are viable options of treatment and care. There is still a huge disconnect between the worlds of medicine and Quality of Life and Rehabilitation which cares more about the tools to live as well as you can.

Most of what was said was basic and i'm sure an eye opener for the newly diagnosed families. I disagree with one of the comments that there were many choices with the treatment of SMA. From my research which is extensive you only have 3 choices: 1) end-of-life-care. Just let nature take its course 2) NIV Protocol of Dr. John Bach 3) Tracheostomy/and all of the Bach protocol without NIV. I haven't heard of anything else beyond that?


I especially liked the fact that the PT recommends starting PT as early as possible. I would like to add that
Motor Oral therapy should also be started as soon as possible and thedisconnect between the PT's and SLP's have to stop so that we as caregivers can better treat our children from the tops of their heads to the tips of their
toes but otherwise excellent. Another subject on the same topic is speech. It would have been great if someone spoke about the fact that our kids need to speak through a microphone so they can better hear themselves and in turn their speech will develop. I think SLP's with SMA experience have to become more involved and we need more early intervention in the SLP department especially in the areas of jaw contractures, motor oral therapy, and speech development.


Diet: I have to say that Sarah Feasel, MEd, RD, CNSC comments regarding the elemental formulas ws very inaccurate, misleading and not professional. While it is true that elemental formulas were created to deal with allergies the reason why elemental formulas have been adopted by the SMA community is very different. Mary Bodzo created the AA Diet based on the findings of Dr. Kelly of John's Hopkins. Dr. Kelly found that SMA patients better metabolized elemental to medium chain amino acids more efficiently than full chain animal proteins. Below are some exerpts of conversations by parents with Dr. Kelly.


" Similarly, because about 40 to 50% of caloric expenditure is from muscle metabolism, a child with SMA needs far fewer calories, often only 60% of that recommended for age. For nutrition recommendations, physicians are
taught to go by the book. However, unfortunately, there is no nutrition book written for SMA, and dietary recommendations made using standard scales are just not appropriate. For example, when a child is very small for age (below the third percentile), as some SMA children are, physicians are taught to use the "weight-for-height" chart to specify an ideal weight for a child's size rather than age. However, again,
the weight-for height charts were developed for children whose body composition is normal or at least potentially normal when better nourished, which never is the case for SMA. Thus, the published weight-for-height charts are not valid for SMA and should never be used.

Although what I have written here explains the basic principles behind the special weight and nutrition goals for SMA, in practice I usually look only at the length chart to make sure a child's linear growth has been steady. If so, then the rest of my recommendations are based on what a child looks and feels like, not a number
that I calculate. However, for physicians who are not familiar with SMA and muscle disorders of similar
severity, the calculations I have presented usually help them approach the problem correctly and avoid the almost universal problem of overfeeding in
SMA."


On breast milk, " I unfortunately have not in recent years worked on the nutritional aspects of SMA or related neuromuscular disorders, so I don't have any more up-to-date thoughts than I have communicated in the past. I
suspect that the benefit of breast milk comes not from any special
"factor" present in the milk but from the lower protein and specific
fat content of breast milk, which better matches the nutritional needs
of someone with greatly reduced muscle mass. The efficiency of
utilization of the lower amount of protein also is enhanced because,
clearly, the amino acid composition of breast milk is better matched
to human amino acid requirements than any type of animal milk or
animal protein. Moreover, compared to animal milks and proteins,

breast milk fat contains a higher proportion of medium-chain fats,which, theoretically, should be more efficiently metabolized by SMA children than regular long-chain fat."


The dietician Sarah Feasel, MEd, RD, CNSC mentioned that the elemental formulas do not contain enough fat to promote proper brain development especially in a childs early and most important developmental stages.
This is true and this is the reason these elemental formulas are used. Because of the low fat content of
both vivonex (which contains more fat than tolerex) we are better able to optimize the diet by adding appropriate amounts of fat while still being able to deliver the correct amount of protein, carbs etc. Almost all other elemental formulas on the market do not allow this flexibility and you always end up with disproportionate amounts of fat to protein levels which works great for active children not sedentary hypotonic children. It is a misrepresentation of the diet to not explain that other foods must be added to enhance calorie intake and that other fats must be added to elevate the fat intake. anyone who is giving their child the amino acid diet and not calculating these other nutritional factors into the diet are not following the AA Diet of Mary Bodzo. The information Sarah Feasel, MEd, RD, CNSC has presented regarding the AA Diet was not science but a biased opinion unsubstantiated opinion. If she actually knew how to calculate the diet, what is added to the diet, why it was created in the first place (the history of the diet) then the AA Diet would have made sense. All that was said by the doctor at the podium and Sarah was innacuarcy and fear. I would hope that we have moved away from this type of discourse especially when it comes to our childrens health but old habits are hard to stop. In a nut shell these people do not truly understand the diet and until they do these types of opinions should not be tabled.


Growth Charts

Judging by the conversation on growth charts I suggest the professionals speaking on nutritional needs re visit the web site at the cdc at http://depts.washington.edu/growth/cshcn/text/page1a.htm ; All the way through this 8 page description of the cdc's growth charts the cdc warns of the inaccuracies of using traditional growth charts for children with special needs. While I use them only to insure there is nothing extraordinary going on with the child I am creating a diet for that is pretty much all they are used for. I take more notice of the Kennedy Kreiger Cerebral Palsy Quadriplegia charts as they have much more in common I think with SMA than regular children.


"And that's all I have to say about that!"

Shira Receiving Beckman Motor Oral Therapy

Shira receives Beckman Motor Oral Therapy every day right after her CPT session in the morning.

Beckman Motor Oral Therapy Handout with Diagrams and Directions
http://www.asonginthisworld.com/images/client_pics/Beckman%20Motor%20Oral%20Therapy.PDF

Beckman Motor Oral Therapy Part 1
http://www.youtube.com/watch?v=KKxbexuV804

Part 2
http://www.youtube.com/watch?v=mY6ZujX-o_4

Part 3
http://www.youtube.com/watch?v=1-jMGPhJYrM

Part 4
http://www.youtube.com/watch?v=SGu9wCxE63g

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
http://www.youtube.com/watch?v=-DgUVrvrNfs&feature=youtu.be

Spinal Muscular Atrophy Type 1 - Dr. Bob Leshner
http://www.youtube.com/watch?v=QRJ2pxVxUQw&feature=related

Spinal Muscular Atrophy Type 2 - Dr. Bob Leshner
http://www.youtube.com/watch?v=w_hyHQUwhco&feature=related

Spinal Muscular Atrophy Type 3 and Type 4 - Dr. Bob Leshner
http://www.youtube.com/watch?v=-Geojki_Hn8&feature=related

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1578617/

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

http://ourkids.uwhealth.org/stories/entry/beyond-expectations-the-sophia-dobbert-story/

A Day With The Ducks

Click on the link below to watch Shira's video

http://www.youtube.com/watch?v=z1ETv6qIPLU&feature=player_embedded

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.

Find this article at http://www.newsweek.com/id/233123

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

http://nch.dataserv.tv/NCH/Viewer/Viewers/Viewer240TL3Banner.aspx?mode=Default&peid=7c4f6f16-f662-46d3-b323-d41ca2851670&playerType=Port25&mode=Default&shouldResize=true&pid=b309b7a4-eb87-404d-805a-90e73efbaafd&playerType=Port25#