CARING FOR CHILDREN WITH SPINAL MUSCULAR ATROPHY
Written by Brad Fisher

Dear parents and caregivers it is imperative that you have support while caring for your child. SMA is classified as a Terminal Genetic Disorder and make no mistake about it it takes knowledge and effort to care for these kids. Once you have the diagnosis you must act fast because this is an emergency situation!!  If you don’t act and get your child on some sort of ventilation, a feeding tube (g-tube) configuration, RSV innoculations,  your child will get sick and you will have to make tough decisions under pressure.  Preventative medicine doesn’t enter into the conversation in modern medicine but you have to advocate for it.  You must quickly put disease prevention protocols in place in your home ASAP (see disease prevention below). Mark my words and be preventative in approach!There is strength and knowledge in numbers and therefore I beg that you join http://www.smasupport.com/ chat group or http://www.Smaspace.com . The SMASupport chat group literally saved our child’s life by supplying us with life saving equipment and information before our medical system would, could or had. There are over 140 families with mostly SMA Type 1 children on the sma chat and over 900 worldwide on smaspace though there are now Type 2’s and 3’s as well.The reality is is that kids following Dr. John Bach’s NIV protocol live longer and the proof is in the families you can talk to. FSMA has also adopted the NIV Protocol as well http://www.fsma.org/ I can not say enough about Laura Stants who started SMA Suppsort Inc. and has lost 2 children to this terrible disorder. Please join a chat group today for support and for real life saving information that will insure your child does not die an “untimely death.”
Doctors will tell you, “There is nothing you can do just take your child home and love them” or “I don’t want to give you false hope.”  The truth of the matter is is that you have 3 option 1) Strictly palliative 2) Non Invasive Approach by Dr. John Bach or 3) Tracheostomy.  Diet, ventilation and disease prevention are essential to keeping our children healthy.  Even if you don’t have any machines etc.  please read the section on disease prevention below and keeping your child healthy.  Disease prevention  is a vital protocol you can put into place now and you don’t need doctors etc. to do this!

I would just like to add that this web site was created so that you can research less while dealing with your child’s devastating diagnosis. When Shira was first diagnosed I was told by a few doctors NOT to reach out to parents with SMA children on chat groups because these parents were “obsessed with their child’s care” that people on chat groups are “obsessed.” Most Dr.’s have little experience, knowledge andexperience in the treatment and care of SMA patients on a daily basis and the therapies which are effective. You have to take control and advocate on behalf of your child and this can only be done by logically arguing your case with your doctor and backing up your arguments with, expressly written real information in hand. Please download as much as you need from this site so that you can better advocate (fight on one’s behalf) for your child and deliver a Quality Of Life most doctors do not know exists.

Caring for children with Spinal Muscular Atrophy is as joyful an experience as caring for a regular child. There is a parable in Judaism that says, “One who preserves one soul is considered as if he had preserved a whole world.” Unfortunately Dr.’s own beliefe systems come into play when action needs to be taken and plans created to look after our children (http://www.jeromegroopman.com/ “How Doctors Think”). Care should be determined by those that need it, not by those that supply or give it. Time and time again we in the SMA community hear of families struggling to make their doctors better understand that there are care protocols available that give families and the patients enhanced quality of life(watch this video on how to better communicate with your doctor http://youtube.com/watch?v=j3XxS-p31qY ).

Click below to view Shira Fisher’s Daily Care Protocol

Shira Fisher Protocol April 16 2008

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

FSMA A Family Guide To The Consencus Statement

ACCUTE ILLNESS

Dr Swoboda Accute Respiratory Guideline

Nutritional_Acute_Illness_Guidelines_Neuromuscular

For information on how to better prevent the spread of RSV, COLDS AND FLU in your home see DISEASE PREVENTION.

ADVANCED DIRECTIVE

An advanced directive is a piece of paper that gives emergency services personal direction on what to do should your child loose their vital signs through cardiac arrest, pulmonary failure etc. This piece of paper tells EMS when to resusitate and when not to. This is a very important topic to discuss with your doctor. As Dr. John Bach states in his book, “Advanced directives are valid only if the patient is fully informed about treatment options and in particular, the likely clinical course if they are not used.” So, buy Dr. Bach’s book “Management of Patients With Neurological Disorders! I know that in the beginning when Shira was first diagnosed we were totally against tracheostomy but as time has gone on our whole conception of Quality of Life and what Life is has changed and so has our Advanced Directive or DNR (Do Not Resustate Order). It is important to speak with a physician that has a lot of experience with NMD (neuro muscular Disease) especially SMA. Some Dr.’s you might want to contact are listed on the Links page of this web site.

ADVOCACY

The great humanitarian and especially childs rights activist June Callwood (http://en.wikipedia.org/wiki/June_Callwood ) said, “Help should be defined by those that need it, not by those that deliver it.” Unfortunately you may find yourself dealing with a medical establishment that does not have the same beliefe system as you and will refuse to deliver the kind of care you want for your child (“How Doctors Think” http://www.jeromegroopman.com/http://youtube.com/watch?v=j3XxS-p31qY )though Unfortuanately most Pediatric doctors are missionaries of medical conventional wisdom. Most doctors are not willing to t here is video of Dr. Groopman discussing his book ry unconventional treatments and are afraid to let parents care for their children using medical devices. Our children SMA Type 1 children are very weak and need help not conventional mdeity wisdom. As Sigmund Freud said, “People who want to make a living from the treatment of nervous patients must clearly be able to do something to help them?” Most Dr.’s regurgitate information, they are not scientists they are skilled professionals that mostly can not think outside the box of education they have climbed into. Doctors mostly prefer to do what is acceptable over what is right. It is up to you as parents to fight like hell to find the right type of treatment for your child, back it up with logical written information and deliver it to your health care provider. Doctors constantly remind us that parents are their childs best advocates (fighters). So I say fight for what you believe in, what you want and think is best for your child. Ask your doctor for information in writing not just their biased feelings about the subject at hand. I will now repeat myself and say, “Under these circumstances you will have to ADVOCATE (fight) for your child. Everyone in the medical system will tell you that parents are the best advocates for their children and they will hate you for advocating. Advocacy is a double edge sword. I suggest advocating in writing and leaving paper trails. For more information on how to more effectively advocate for your child please read my article on this site under In The News or you can use the self advocacy tool right here as a pdf Self_advocacy_ tool_e.pdf

Know that you have 3 choices in caring for a child with SMA Type 1:

1) Strictly Palliative

2) Non Invasive Protocol of Dr. John Bach of the University of Medicine and Dentistry of New Jersey

3) Tracheostomy

The choice is up to you as a parent. Don’t believe anyone who tells you that your child will have no life. I know of many childrens dozens that enjoy their lives, are loved, cared for and give back affection to their syblings, parents and extended family members. Most Doctors know nothing about how to care for an SMA child. It is not easy but there is great joy and love in doing so. A Doctors place is to support a family and make suggestions no dictate what should be done based on their own biased feelings, belief systems, lack of education, massive ego’s, none to little experience with SMA, and more importantly no knowledge of your child/family dynamics and your beliefe systems.

ADVOCATE WITH ALL YOUR MIGHT! ITS YOUR CHILD!!!

BOOKS

MEDICAL

Management of Patients with Neuromuscular Disease
By John R. Bach, MD

http://www.us.elsevierhealth.com/product.jsp?isbn=1560536047

Noninvasive Mechanical Ventilation
By John R. Bach, MD

http://www.us.elsevierhealth.com/product.jsp?isbn=1560535490

PSYCHOLOGY

The Suprising Purpose of Anger – Beyond Anger Management: Fiinding the Gift Marshall B. Rosenberg PH.D.

Parenting Through Crisis – Helping Kids In Times Of Loss, Grief, And Change: Barbara Coloroso

What Children Need When They Grieve-The Four Essentials routine, Love, Honesty and Security: Julia wilcox Rathkey

How Doctors Think: Dr. Jerome Groopman MD

The Anatomy Of Hope -How People Prevail In The Face Of Illness: Dr. Jerome Groopman MD

Close to The Bone:Life threatening illness and the search for meaning: Jean Shinoda Bolen,MD

When Children Die- Improving Palliative and End-of-Life Care For Children and Their Families: Institute Of Medicine Of The National Academies

CHOICES

Though there is no cure for this terminal genetic disorder there are choices out there for families. The 3 choices I know of are:

1) Palliative Care
2) Non Invasive Protocol of Dr. Bach
3) Tracheostomy
Many of us have been told to “take our children home and love them until they die” and at first we thought this was our only choice; but it is not. We have choices and it is my hope that if you choose to keep your child around by treating them with quality of life enhancing protocols that you will have the tools you need to advocate to the medical community in your area. Please work closely with the medical profession and advocate utilizing published written materials so that you can effectively argue why you want to care for your child (See my article on Advocacy under IN The NEWS on this site). If you are a newly diagnosed family please read the consensus statement and the SMA Family guide first. These two documents will give you a comprehensive background in a shortened format and bring to light what you are up against. After you have read the two documents please read my daughter’s protocol and you can get a birds eye view into our lives. If you have any question feel free to contact Brad or Maxine at [email protected]

Dr. Bach article on Choices for treatment and care:

Choices

Dr. Mary Schroth

Choices by Dr. Schroth

CLINICAL TRIALS

The best place to look for clinical trials for SMA Treatments is the National Institute of Health. I suggest going to their web site at http://www.nih.gov/ and entering Spinal Muscular Atrophy Clinical Trials in the search box. Other resources are below.

National Health Institute
http://www.nih.gov/

http://www.projectcuresma.org/

http://www.fsma.org/

http://medicine.utah.edu/neurology/research/swoboda/sma/index.htm

CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I

Canada, Quebec
Hospital Sainte-Justine Recruiting
Montreal, Quebec, Canada, H3T 1C5
Contact: Monique Emond, PT, MSc               514-374-1710        ext 8278 [email protected]
Contact: Sandra Reyna, M.D.               801-581-3551        [email protected]
Principal Investigator: Guy D’Anjou, M.D.

COLDS

For information on the prevention of colds, flu, RSV etc. please see DISEASE PREVENTION

CONSTIPATION

Information about constipation and treatment from Management of Patients With Neurological Disease by Dr. John Bach

CONSTIPATION from Management of Patients With Neurological Disease by Dr. John Bach

COUGH ASSIST

Cough augmentation with mechanical insuf ation/exsuf ation in patients with neuromuscular weakness

Cough Assist

DENTAL HYGIEN

Tube Fed and Dentistry

Tube fed and dentistry

Calculus in Children with G-Tubes

Collis Curved Toothbrush

http://www.colliscurve.com/

DIET

Diet and calculating diet is an extremely important part of an SMA patients therapy.  Without good nutritional support SMA patients don’t thrive.  Diet creates a lot of problems in our doctor patient relationships also because there is so little information as to how diet affects SMA Patients.  Doctors hold fast to conventional wisdom and the BMI index when calculating an SMA patients needs.

The CDC Growth Charts for Children with Special Health Care Needs.

http://depts.washington.edu/growth/cshcn/text/page1a.htm

The above site will steer you health care professional, doctor, nutritionist in the right direction.  I suggest carefully reading this site, copying it into hard copy and saving the link in case you need it to train your health care provider as to your childs special needs!

Here is a quote from Section 5 of the site:

“in bone size and fat and muscle distribution make the use of the reference data for many estimators of body composition inappropriate for many children with special health care needs. For example, BMI-for-age may not identify overweight in some children who are “overfat” because of decreased muscle mass.

Since the body composition of a child with special health care needs may differ from that of the reference population, skinfold measurements, along with BMI-for-age, may provide additional critical information about a child’s body composition. This information can be useful for monitoring changes in an individual’s body composition and growth pattern.”

When it comes to diet health care professionals just guestimate and I say its time for them to start taking notice and performing skin fold tests etc to more accurately come to conclusions and recommendations!

I hope you have found this information useful!  Brad.

SMA Nutrition from Dr. Bach’s book, “Management of Patients With Neurological Disorders.”

SMA Nutrition by Dr. John Bach, Dr. Irving Haber, Jill Gaydos BS

Dr. Kelly from Johns Hopkins on Muscle Metabolism.  The AA diet is based on Dr. Kelly’s findings

Diet – Muscle Metabolism in Spinal Muscular Atrophy and Richard I. Kelley, MD

SMA Type 1 patients can have muscle mass as low as 5% of regular muscle mass.  If dieticians use the traditional BMI index (Body Mass Index) to calculate your childs dietary needs your child will become obese and will be exposed to amino acid overload.  It is suggested to use the ZMM or Zero Muscle Mass index or to calculate your childs dietary needs by adjusting your calculations to take into account that your child has upwards of 90% less muscle than a regular child.

Nutritional Assessment of Patients.pdf

Becaus our children will suffer from serious illnesses during their lifetime it is important to understand that our children suffer terribly when they go into the ketosis stage of fasting.  Ketosis in laymen’s terms is when the body goes into fasting mode i.e. before surgery or because doctors are too scared to feed our children for fear of aspiration.  Ketosis then leads to affecting our kids fatty acid metabolic disorder.  Our children can loose a huge percentage of their movement through ketosis and fasting should be avoided at all costs even if it mains inserting a main line and using TPN or PPN.

Nutritional_Acute Illness_Guidelines.pdf

Dr. Schroth’s Nutritional Guidelines.  The below guidelines are just what they are guidelines.  Most of the SMA parents I know do not aim to keep their children within the low 10% of the BMI index.  I use a combination of information to calculate my childs dietary needs and use my powers of observation to monitor her health weight wise.  It is important that our children are not overweight as well as severely underweight.  It is important that our children make gains but we must not forget that our children have a terminal genetic disorder that grossly inhibits the production of muscle.  So, don’t for a minute try and fit your child into the traditional BMI mold as our kids aren’t regular children when we are talking about metabolism and physical make up.

SMA General Nutrition Guidelines Dr. Schroth

The full article on the Amino Acid Diet

The Full Article on the Amino Acid Diet

The Amino Acid Diet created by Mary Bodzo

http://www.smasupport.com/diet.htmDr. Bach info regarding Heart and Carnitine Issues.  Carnitine is more of an issue with many kids on the VPA studies but you can easily be tested.

Diet – John R Bach, MD 2Heart Issues and Carnitine

If you are thinking of putting your child on the AA diet please download the LMN and edit the letter to suit your child.

LMN for AA diet

HOW TO CALCULATE YOUR CHILD’S DIETARY NEEDS a more extensive how to is in the works.  Contact me if you would like me to calculate a diet for your child.

CALCULATING YOUR CHILDS DIETARY NEEDS

GROWTH CHARTS

If your doctor or nutritionist is using the traditional BMI index to calculater your childs dietary needs and plot their growth they have to adjust for the low muscle mass and slower growth.  If they don’t do this your child will end up looking malnutritioned.  It is more accurate to use the info below to calculate your childs dietary needs and plot their growth

Kennedy Krieger Institute

http://www.kennedykrieger.org/kki_misc.jsp?pid=2694&bl=1

Growth References for Children with Quadriplegic Cerebral Palsy(More in line with SMA than the BMI index)

These population specific references for children with quadriplegic cerebral palsy will facilitate uniformity in your clinical appraisal of growth and nutritional status. Deviations in growth may be the first or only signal of a more serious underlying health problem that requires assessment. This chart will also help you to educate families about the issue of growth and aid in evaluating the efficacy of your intervention strategies.

The estimate of ideal body weight is in part determined by the severity and topography of cerebral palsy. For those children with quadriplegia, ideal body weight should accommodate the principles of assuring good health by maintaining adequate fat and muscle stores and allow for ease in daily physical care and management.

Download Cerebral Palsy Growth Charts:

Boys Growth Chart CPboys

Girls Growth Chart CPgirls

Center For Disease Control Growth Charts for Children With Special Care Needs.  This is a very important site to read through and to direct your nutritionist and doctor to so that they do not miscalculate your childs dietary needs based on their conventional wisdom of diet and neuromuscular disorders.

http://depts.washington.edu/growth/cshcn/text/page1a.htm

DISASTER PLANNING

iTS Imperative that you put a disaster plan in place.  You should call your local government agency or look up your local agency web site for local disaster planning.  In many areas of Canada and the U.S. extreme termperatures and weather systems create problems with power etc.  We employ a 5000 Watt generator, back up batteries, UPS system, and true sign wave inverters as well as have enough supplies and food to go for a month without resupply.  You can not rely on government you have to be ready to survive on your own!!

Emergency Preparedness – It’s important to know where to go and who to contact in case of a natural disaster!!

Emergency Preperadness Research by Brad Fisher

University of Utah Emergency Preperadness

UPS AND INVERTERS

Inverters and UPS

DISEASE PREVENTION

DISEASE PREVENTION FOR OUR HOME

DOCTORS

Below is a link to Healthcare professionals from throughout the US and the world that have been trained by the Center For Ventilator Management Alternatives in the use of noninvasive ventilation techniques.

www.theuniversityhospital.com/ventilation/html/contactus/resources.htm

If you are having trouble convincing your current doctor or doctors that you would like to follow the NIV Protocol please know that there are 3 experts in the treatment and care of SMA Patients based in the U.S. that have helped us out tremendously with life saving information.  Please go to the links section of this web site and you will find contact info for Dr. John Bach, Dr. Mary Schroth and Dr. Kathryn Swoboda.  These 3 doctors combined are the tops in the field in the treatment and care of SMA patients.  Because of these 3 amazing doctors Shira has not died an untimely death!

MUSCULAR DYSTROPHY ASSOCIATION

Here is a great link to the american MDA.  I find the MDA better than the MDC in that there is more recent relevant information for SMA patients.

http://www.mda.org/disease/sma1.html#special

NON INVASIVE VENTILATION (NIV PROTOCOL)

Non invasive ventilation in laymen’s terms basically means not cutting into the body i.e. Tracheostomy.  This site is not against Tracheostomy but it is against the use of Tracheostomy unnecessarily.  Tracheostomy is the old conventional wisdom when it comes to treating patients with NMD.  There are definately stages of NMD as well as the patient’s and families own personal wishes that will determine the type of ventilation.  The problem here is is that many patients and families are not given the choice because Past Conventional Wisdom has always dictated Tracheostomy.  Below is a link to Dr. Bach’s book and I highly recommend getting it so that you can use it as a reference.  As time goes on you will become an old pro and what seems like a massive up hill learning curve will become common place in your day to day life.

Home Mechanical Ventilation for Neuromuscular Ventilatory Failure Conventional Approaches and Their Outcomes

Families Of Spinal Muscular Atrophy

Breathing Basics – Respiratory Care For Children With Spinal Muscular Atrophy

Preface in Dr. Bach’s Book Non Invasive Mechanical Ventilation

An estimated 16 million Americans have chronic obstructive pulmonary disease (COPD).  In addition, 500,000 people in the U.S. A have neuromuscular diseases, more than 500,000 have spinal cord injury or post-polio respiratory impairment, and 3-5% of the population have thoracic wall restrictive lung disease, sleep-disordered breathing, or obesity hypoventilation.  In this era of cost containment, medical interventions are expected to be both efficacious and cost-effective.  Both survival and quality of life are considered in equations designed to justify the cost-benefit for prospective interventions.  Interestingly, non-invasive respiratory interventions are consistently preferred by patients over invasive alternatives.  Use of these interventions has been shown to prolong survival while decreasing the risk of pulmonary complications, need for hospitalizations and intensive care, and cost.  Likewise, the use of respiratory muscle aids can optimize function, quality of life, and life satisfaction.  Despite these facts, physician surveys indicate that only a small minority of patients who could benefit from these methods are ever offered them.  This book is unique in presenting the various inspiratory and expiratory muscle aids and the outcomes of their use in patients with respiratory muscle dysfunction.  –John R. Bach, M.D.

Noninvasive Mechanical Ventilation
By John R. Bach, MD

http://www.us.elsevierhealth.com/product.jsp?isbn=1560535490

Study suggests NIV After Intubation Prevents Death

NIV_after_Intubation_Prevents_Death_Study

OCCUPATIONAL THERAPY

Adapting Toys by Shannon Keuster

Adaptinjg_Toys_By_Shannon_Keuster


QUALITY OF LIFE AND REHABILITATION
“The phrase is apt to cause disquiet. There have been those among us who have arrogantly judged, from a vantage point of power, the value of a human life. They have made decisions based on their assessment of a person’s quality of life about providing supports to sustain that life. This attitude peaked in Nazi Germany, where such decisions were used as the basis for genocide. We like to think that we have moved well beyond this perspective, but important decisions about people’s lives are still being made from positions of power. Such practice is difficult to combat, especially in a period when responsibility of government in the area of human and environmental services is being cut back.”- Introduction by J. David Baker (Quality of Life in Health Promotion and Rehabilitation)

Physicians’ Consideration of Quality of Life P. 339 Maganement of Patients With Neurological Disease by Dr. John Bach

Physicians’ perceptions of the patients’ quality of life are extremely variable. Surveys have demonstrated the extent to which health care professionals underestimate the satisfaction of life of severely disabled, ventilator-assisted people.  This point is important because physicians’ assessment of patients’ quality of life and the relative desirability of certain types of existence determine the likelihood that patients will receive therapeutic interventions.  Physicians consider patients’ quality of life more often to support decisions to withhold therapy than to support decisions to use mechanical ventilation(p < 0.01).  This situation is further revealed by the fact that despite the widespread use of nocturnal bilevel PAP for patients with ALS, less than 10% of patients with ALS ever use ventilatory support, and virtually none are offered the respiratory muscle aids that could spare them morbidity and mortality.  Some neurolgists openly profess their “therapeutic nihilism.”

The more I study the subject of Quality of Life the more I have been made aware that that while the medical community often believes children with SMA do not have a quality of life the caregivers and parents of children with SMA are often very satisfied with their children’s quality of life.  You want to scratch your head when it comes to this subject.  How can people make a judgement of about ones quality of life when they don’t care for them on a daily basis and experience what the patient experiences.  It would be like you or I making a judgement on a doctors quality of life or his wifes or children’s quality of life without actually being present in the home experiencing the day to day interaction between the family members.  I find most of the arguments against absurd and unsubstantiated!!!

Books

Management of Patients With Neurological Disease by Dr. John Bach

Quality of Life in Health Promotion and Rehabilitation: Conceptual Approaches, Issues, and Applications. (1996). Eds. Rebecca Renwick, Ivan Brown, & Mark Nagler. Thousand Oaks, CA: Sage Publications.

Quality of Life Research: A Critical Introduction. (2003). Mark Rapley. Thousand Oaks, CA: Sage Publications

Still Me: Christopher Reeve

Nothing Is Impossible by Christopher Reeve

Ottawa Charter

Ottawa Charter Quality Of Life WHO

Quality of Life and Ethical Issues from Management of Patients With Neurological Disease by Dr. John Bach

Quality of Life and Ethical Issues Ch 13 Management Of Patients With Neurological Disease by Dr John Bach

Quality of Life Measured

Spinal muscular atrophy type 1 quality of life

RESOURCES

On the 3 sites below you will find links to all of your needs from Occupational Therapy device suppliers to Physical Therapy and Diet Informtaion. I use these sites extensively. If you have any questions at all feel free to contact us at: [email protected]

http://www.smasupport.com/

http://www.fsma.org.com/

http://www.smaspace.com/

http://www.fightsma.org/

RESPIRATORY MANAGEMENT

Choices by Dr. John Bach

Home Mechanical Ventilation for Neuromuscular Ventilatory Failure Conventional Approaches and Their Outcomes

Respiratory Brochure a complete resource by FSMA

Breathing Basics – Respiratory Care For Children With Spinal Muscular Atrophy

INTUBATION

RECOMMENDATIONS FOR POST-OPERATIVE CARE OF CHILDREN WITH

NEUROMUSCULAR DISEASE FOLLOWING SURGERY (OR THE INTUBATED

CHILD WITH NEUROMUSCULAR DISEASE)

Intubation and Extubation

Post and Pre Op Recommendations by Dr. Mary Schroth

SLEEP STUDIES

Here is some info on sleep studies from Dr. Bach’s book Management of Patients with Neuromuscular Disease.  Many parents have found sleep studies to be a total waste of time.  Dr. Bach shows why sleep studies are so innacurate regarding SMA.

Sleep and Ventilation.pdf.PDF

SURVIVAL RATES

“There are 3 kinds of lies: Lies, Damn Lies and Statistics.” ~ Mark Twain (Borrowed from Benjamin Disraeli)TRACHEOSTOMY

www.tracheostomy.com

TRAVEL

Plane Travel

Plane Travel

Canadian Insurance that will cover your child if you are traveling from Canada

ptrbcinsurance