Ventilator-Assisted Living©

Fall 1996, Vol. 10, No. 2

(continued)

Living with Acid Maltase Deficiency

Larry Homolka, Phd, New York, New York

Larry Homolka, was bom in 1941. He majored in, art at Grinnell College and was awarded a graduate fellowship to Harvard where he earned a doctorate in fine arts, specializing in modern architectural history. He has lived and worked in New York City since 1967. Homolka’s paintings have been selected for various private and corporate collections in the United States, Germany, Spain, and Brazil.

I did not anticipate respiratory problems in 1983 because when first diagnosed, I was not told. I was left with the impression that I had Becker's muscular dystrophy, not acid maltase deficiency. In 1986, an MDA secretary let the cat out of the bag. I was very angry at the sloppy treatment from a famous medical center in New York. This led me to two important conclusions. One, that you should demand a copy of your medical chart, especially the diagnostic summary, and combine thorough reading with independent and personal research. Two, that some physicians are careless and ignorant of recent research, and have little at stake when the disease has no therapy or cure. Some, of course, will try new leads or at least will offer a little human concern. (A real life joke: When I appeared in 1986 before a neurologist at a famous medical center he asked, "Do you have a tracheostomy?" I replied, "No, can't you see?" It was July, the temperature was 900, and my shirt was open mid-chest. This was the first I had heard of trachs used for muscular dystrophy – what an introduction.)

I had no idea what a ventilator was until I was fitted out with a nasal mask by a pulmonologist in 1990. 1 liked it – assisted breathing that I could control. The pulmonary doctors I encountered were noncommittal. One said I could try nasal ventilation for a couple of years or simply, "Let nature take its course." I think the medical establishment should, however, err on the side of encouragement; "Yes, do it. Stay alive." I have no doubt that without the ventilator I would now be dead. Fortunately, my Medicare had just kicked in, so I could also finance the ventilator rental easily.

Since 1990, 1 have made a few modifications of my own. I use a nasal mask with an LPIO at night. During the day, I need mouth intermittent positive pressure ventilation (MIPPV) for 3-4 hours or more. I re-use an artificial nose, modified for oral use by flattening the end like a cigar. It can be softened by squeezing in vice pliers after being warmed on the stove. I made my own adaptation with an ambu bag by attaching an extra piece of blue circuit to the ambu bag. When standing and talking on the phone and using MIPPV, I hook the exhaust valve around my Medic Alert chain – like a neck microphone on a chain – so the mouthpiece can be reached or spit out while talking. It frees the hands.

I continue to work as an artist, but it is difficult to stand to paint, so I have moved to smaller scale works. It is just as satisfying, maybe more so, although the market place likes BIG, usually. I have used my limitations to an advantage. I live alone. I always make sure an ambu bag and a phone are at hand, because fear and panic are my real enemies. I take a moderate tranquilizer to deal with anxiety about shortness of breath. I can walk in my apartment with the aid of a cane, but use an electric scooter outside. I expect to become increasingly dependent. I need more air more of the time.

We surprise ourselves, I think, regarding just how much discomfort and change we can absorb regarding "disabled living." My art and my thinking have never been better, after too many years of muddling along as a college professor. Now I have less energy and fewer opportunities to waste. I am still able to accomplish some important things personally, be it a full-scale art exhibit or finding a new way to get out of bed or go to the bathroom. I read several disability periodicals searching for ideas and new products.

Current ventilators seem to me unnecessarily large, noisy, and heavy. Such medieval machinery, with crude tubing, circuits, and other appliances, may frighten some people enough to "Let nature take its course." The equipment is not high-tech enough. Where is the research into better ways of artificial breathing? I think some of my friends harbor a latent "tube-phobia" which I understand but do not support. In this age of government take-aways and Kevorkianism, we need a compassionate and activist medical profession and groups such as the MDA to fight for patients' lives. Ventilators, after all, are life savers.

Pompe's Disease/Acid Maltase Deficiency

Glycogen storage diseases of muscles are rare autosomal recessive, diseases, that can be clinically mild or severe. The more severe Pompe's disease, glycogen storage;disease-type 11, is usually fatal in children. by age 2. These children lack the acid maltase enzyme that breaks down oxygen and: converts it to fuel. The stored glycogen destroys muscle cells. The adult-onset disorder, referred to as acid/maltase deficiency, commonly presents with hypoventilation due to respiratory muscle involvement. There is: progressive generalized motor weakness resembling limb girdle muscular dystrophy. People with acid/mattase deficiency maybe able to walk and to work, despite the respiratory complications. They can be supported for a lifetime by noninvasive ventilators (negative or positive systems, rocking bed). Each individual may, have a different support system based on individual characteristics and needs. Some use two systems; one for sleeping and another while awake.

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