Ventilator-Assisted Living©

Fall 1996, Vol. 10, No. 2

(continued)

Living with Pompe Disease

Mary Garrett, Glens Falls, New York

Our son, Lucas Garrett, the youngest of our four children, was born July 23, 1993, and was diagnosed with Pompe disease at five months. In Luke's case, his respiratory and skeletal muscles are affected. After several bouts with pneumonia and a stomach virus, which led to dehydration, Luke suffered complete respiratory failure in March 1995. He was trached and ventilated that April and spent 63 days in the pediatric ICU at Albany (NY) Medical Center Hospital. Luke's condition improved using the hospital ventilator, but did not respond as well when attempts were made to transfer him to a home ventilator. The BIPAP® system was tried, and he flourished; however, BIPAP® is not intended for longterm use. Luke was finally discharged in May 1995 with a unique setup. He uses an LP1O with a Remstar CPAP added through the back to give him a continuous flow round the clock.

Leaving the safety net of the ICU was difficult, but we were anxious to return home to our other children. Little did we know then how hard we would have to fight ... for just about everything.

Our HMO denied us a second backup ventilator. Their reasoning was that we lived very close to our local hospital and if any problems developed we could take him there. This was unreasonable because the hospital is not equipped with a pediatric ICU and does not take children who use ventilators. Luke would require stabilization there and then be transported to Albany, over 60 miles away. Also, he would have to be ambu-bagged this entire time. After several weeks and many letters and phone calls, we won our battle with the HMO and were granted the backup ventilator.

We have become very strong advocates for our son, and are truly saddened by the struggles that have to be surmounted in order to obtain what he needs. We don't feel that we should face so many obstacles. We are very fortunate to have a great support team comprised of our family, five nurses (20 hours per day, the same five who have been with us for a long time), physical and speech therapists, a special education teacher, and an early intervention coordinator. Continuity of care is very important.

We have learned that many people, professionals included, have grave misconceptions about children who use ventilators. Luke is a very bright and loving child. With his Passy-Muir Tracheostomy Speaking Valve (which he wears continuously during his waking hours), he is becoming an accomplished speaker. His favorite phrase of the moment seems to be, "I want that!" Luke is quite normal for his age, just extremely weak. He is very tolerant and forgiving of everything that we do to him. Luke has managed to stay out of the hospital since his discharge last May. His backup ventilator and Remstar are on his wheelchair, and he very much enjoys his mobile status.

We have so many questions, which Luke is too young to answer. We would like to know what a trach change feels like, and if it hurts. We would also like to know if the saline that we use during auctioning burns or drowns him. We would like to know what auctioning feels like, and if the trach is uncomfortable when we lay him on his stomach. We would like to correspond with other families of pediatric ventilator users to learn some of these answers.

Pompe 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 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.

Thanks to Norma Braun, MD, for her review.

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