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From a parent's perspective SMA Type I is hell.  The only other way I can describe it is that it permeates every pore in your body draining your energy and desire to live.   All that pulls you back is your love for your child and the desire to make his life as comfortable as possible.

There are no words to describe watching your child, your pride and joy, an innocent life, struggle to survive.  To be given a gift - a seemingly healthy and happy baby - and then, in less than 8 words, learn that your time with him will be measured in months, not decades, does nothing but shake your faith in all that you've ever believed in.   The innocence that we all have about how good life is, or should be, is ripped from your very being.  You can't escape it - it saturates your thought process, it's indelibly stained on your being, and on your child's face.

One day you are looking at you child's face and you see all the dreams, hopes, and love, and the next moment you see struggle, uncertainty and pain. There is no way around this, no matter how positive you try to be ---death.

You question everything.  Why did God do this this to your child?  What did I do to deserve this?  Why is my family being punished?  Initially it's easy to try to place blame.  But there is none to place.  It is no one's fault - all the energy spent trying to figure out "why" should be directed to your child and spouse.   Don't waste a minute - spend every minute loving and caring for your child -- sadly, there will be plenty of time later to question.

Take pictures, take video - it's only been a short time since we've lost Wyatt, but his videos and pictures bolster our spirits when we've crashed -- watching the videos and looking at the pictures helps us to continue on.

SMA, Type I is not pretty and can only be truly understood by parents that fighting to keep a child alive, or by parents who have lost a child to SMA, Type I or some other horrible disease.

The following is the clinical definition.  I have taken the liberty to copy the definitions from various WebPages.  Links to each of the pages follow the definition.   I want to thank the organizations that I have copied the definitions from, they know the clinical definition, but I know the toll SMA, Type I took.

Definition from the Friends of Families with SMA.  WWW.fsma.org

Spinal Muscular Atrophy (SMA) is a disease of the anterior horn cells. Anterior horn cells are located in the spinal cord. SMA effects the voluntary muscles for activities such as crawling, walking, head and neck control and swallowing.

It mainly affects the proximal muscles, or in other words the muscles closest to the point of origin, in this case those closest to the trunk of one's body. Weakness in the legs is generally greater than weakness in the arms. Some abnormal movements of the tongue, called tongue fasciculations may be present in patients with Type I and some patients with Type II. The senses/feelings are normal as is intellectual activity. In fact it is often observed that patients with SMA are unusually bright and sociable.

Type I Acute (Severe)

Type I SMA is also called Werdnig-Hoffmann Disease. The diagnosis of children with this type is usually made before 6 months of age and in the majority of cases before 3 months, there may be lack of fetal movement in the final months of pregnancy.

Usually a child with Type I, (Werdnig-Hoffmann) is never able to lift his/her head or accomplish normal physical milestones. Swallowing and feeding may be difficult and the child may show some difficulties with their own secretions. There is a general weakness in the intercostals and accessory respiratory muscles (the muscles situated between the ribs). The chest may appear concave (sunken in) due to the diaphragmatic (tummy) breathing.

Please note: Although diagnosis may be made before 6 months of age it does not necessarily follow the same course of severity for each patient.

From the MDA  www.mda.org

What is spinal muscular atrophy?
Spinal muscular atrophy is a term for a group of inherited neuromuscular diseases. All forms of the disease affect specialized nerve cells called motor neurons, which control the movement of voluntary muscles. SMA causes lower motor neurons in the base of the brain and the spinal cord to disintegrate, preventing them from delivering electrical and chemical signals that muscles depend on for normal function.
Involuntary muscles, such as those that control bladder and bowel function, are not affected in SMA. Hearing and vision are not affected, and intelligence is normal or above average. Investigators have noted that children with SMA can have very high intelligence.

What are the different forms of the disease?
The three major childhood-onset forms of SMA are now usually called type 1, type 2 and type 3. Types 1 and 3 are sometimes referred to by the names of the doctors who first described them. Werdnig-Hoffmann disease is sometimes used for type 1 SMA and Kugelberg-Welander disease for type 3.
All three types are also known as autosomal recessive SMA because of the way they are inherited. Both parents must pass on the defective gene in order for their children to inherit the disease.
Types 1, 2 and 3 appear to be variants of the same condition, because they all appear to arise from a defect in the same gene on chromosome 5. It's possible that different defects in the same gene may give rise to the different types of SMA.
Occasionally, SMA is inherited as an autosomal dominant condition. In these cases, only one parent need have a genetic defect for a child to show the disease.
In addition, there is a form of the disease known as X-linked spinal-bulbar muscular atrophy (SBMA), also known as Kennedy's disease, that arises from a defect in a gene called the androgen receptor gene on the X chromosome.
Some doctors use the term SMA type 4 for adult-onset SMA, regardless of the inheritance pattern.

How do the forms of the disease differ?
They differ mostly in their time of onset and rate of progression.
All forms affect the skeletal muscles of the trunk and limbs. In general, those muscles closer to the center of the body are more affected than those farther away.
SMA type 1 and SBMA affect the neurons controlling the mouth and throat muscles more and therefore involve more problems with chewing and swallowing.
Respiratory muscles are involved to varying degrees in all forms of the disease.
In SMA type 1, the most severe form, the onset of the disease is noted within the first 6 months of the child's life.
Children with SMA type 1 are never able to sit without support, and death usually occurs before age 2.

From Vanderbilt University         


Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder of childhood, less common only than Duchenne's muscular dystrophy. It is characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei of the brainstem, causing weakness. There are many forms of the disorder, which may affect specific muscle groups or be generalized and may manifest anywhere from in utero to adulthood.

Most forms are genetic. Inheritance pattern may be autosomal recessive (most), autosomal dominant, X-linked, or new mutation. The gene or genes involved in SMA has been localized to chromosome 5q; the identity of the gene product and pathogenesis are areas of intense study. Prenatal diagnosis in known affected families is also under investigation. Interestingly, the clinical features may vary significantly within a given family; the reasons for this are not clear. The incidence is approximately 1:25,000 for SMA in general, with some forms more common than others.

There are three main types of SMA occurring in childhood, conventionally divided by age of onset. These will be described in their most typical presentation, although it is important to realize that clinical features and progression overlap. A recent prospective study of 141 patients by Russman et al (Journal of Child Neurology, 10/92) underscored the variability in childhood SMA, suggesting that classification systems are not valid and warning against prognostication based on age of onset.

Acute Infantile SMA, or Werdnig-Hoffman disease, is the most severe form. Symptoms may be present in utero with decreased fetal movement. Affected infants are hypotonic and areflexic. Proximal muscles are affected more than distal. Tongue fasciculations and atrophy may be seen. Extraocular movements generally remain intact. Development other than gross motor is normal in these children, which may give the family a false sense of improvement. Death may occur by the age of 6 months secondary to loss of gag reflex with resultant aspiration and pneumonia.