WHAT IS SMA TYPE I?
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?
From Vanderbilt University
SPINAL MUSCULAR ATROPHY
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.