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HELP ME ESCAPE THE RESPIRATOR

SMA-SPINAL MUSCULAR ATROPHY

The beginning

I have SMA, spinal muscular atrophy. There are several types of this illness and mine is type I. The patients with type I have never been able to walk or even sit up on their own, this however is not my case, which has been reconfirmed by genetic analyses. And this is where my strange story begins. Underneath I have listed a few symptoms characteristic of SMA patients which in fact are exclusively child patients, as they never reach adulthood. I have never had ventilation performed, not to mention being put on a respirator or anything like that. I am not claiming I am able to do all the things I´d like to do and I am physically fit, it´s just that I am an exception, a kind of medical oddity. The strange thing is I have been able to evade the destiny for at least 20 years now and people say I still look quite good.

Diagnosis

Spinal Muscular Atrophy is the second most common (after cystic fibrosis) autosomatic recessive genetic disorder. One in forty people in Poland is a carrier of the affected gene and there is a high risk of recurrence within the family. The frequency is one in every fifteen to twenty thousand births. There are a few ways for the illness to develop, the most serious form causes the death of the newborn right after birth. The lesser form of the disorder causes a high grade of physical disability; at the same time the intellectual capacities of the patient are above the average. In the three types of SMA the mutations affect the locus 5q11.2-13.3. The birth frequency is 1:10 000 within the population and 1:6 000 for live births. It has been estimated that each year a thousand SMA affected babies are born worldwide. In spite of advances in healthcare and improvements of our knowledge of this disorder, still about 50% of these children would die before reaching the age of two. In the rest of the cases the evolution of the illness is slow yet steady, causing scoliosis, contractures and breathing disorders.

Symptoms and course of illness:

• atrophy of skeletal muscles due to the lack of neural stimulation

• limited physical capacity

• incapability to sit up

• scoliosis

• respiratory failure

• circulatory failure

• tendency to infections (mostly of the respiratory system)

Treatment

There is no pharmacological treatment available as of today, however there are various supportive methods and there are great hopes as regards genetic therapies, there are also symptomatic treatments such as corrective spinal surgery. Palliative care is a very significant issue too. Physioteraphy (kinesitherapy) is vital as regards slowing down the progress of the symptoms and keeping the patient in the best possible shape and the methods of Sensoric Integration and PNF can also be of help.

 
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