LUCAS
( Childhood Form )

Our son Luke, the youngest of four children, was diagnosed with Pompe's Disease at 5 months of age. He had a very normal birth and development but was a floppy baby. Luke was first hospitalized at 6 months of age with RSV virus and pneumonia after which he was noticeably weaker than before. At 18 months of age Luke was again hospitalized several times with pneumonia. Luke suffered complete respiratory failure and was transported to Albany Medical Center Hospital about 60 miles from our home. He was trached, ventilated, and a G-tube for feeding was inserted. We came home from the hospital on May 31, 1995.

Thanks to wonderful nursing care and a great support team comprised of his physician, speech therapist, physical therapist, special education teacher, and early intervention coordinator, he has remained at home ever since. All of the services Luke receives are performed in our home. Even his doctor makes house calls!

Luke turned 5 years old on July 23, 1998. He is a very beautiful, bright, and loving child. His development is normal, but he is just extremely weak. He has learned to speak using a passy-muir speaking valve attached to his trach and is able to play with toys if his elbows are supported on a table. He cannot sit up at all without support and has very little head control. He can kick his legs and move his arms. He has his own lap top computer that he uses for learning and playing.

Luke requires constant care. His siblings, ages 8,10, and 11, have adjusted quite well to all the attention that he receives but regret the fact that we rarely can do anything together as a family. Anything that Luke catches affects his respiratory system. He has already been very ill so far this winter.

It has been hard to accept the fact that our baby is on total life support. Yet in spite of it all, Luke continues to thrive. He is so very happy and totally forgiving of all that we have to do to him.

We are so grateful for the research that is being done and are praying that we can keep him healthy until a treatment can be found. We are also happy to have found some wonderful support from other people afflicted with this disease or having loved ones with the disease.

Luke's Mother

Tiffany
( Childhood Form )

Tiffany is 16 years old. Although she has had symptoms since infancy, a diagnosis was not made until she was 12 years old. The progression of the disease has been slow and insidious. She has great difficulty walking and breathing due to severe muscle weakness. She relies on a breathing machine for respiratory support. She has developed severe scoliosis which further compromises her breathing and causes even greater difficulty in walking. She is extremely tired and suffers from constant muscle pain. Although she is very bright and thinks like a normal teenager, her body won't let her function like one. She is no longer able to attend school.

The future is bleak for Tiffany and other children like her. The cause of death in the childhood form of AMD is frequently due to complications from respiratory infections which are a constant threat. Life expectancy in the childhood form is only to the second or third decade of life. We hope and pray that a treatment for the disease will come in time for Tiffany. What she wants most is to be able to return to school and to be a normal teenage girl.

Tiffany's mother

I was born on January 22, 1983. By the time I was 3 months, I had had my first cold. I developed slowly for my age, but not slowly enough that doctors noticed that something was wrong. As a little kid, I fell a lot. I always seemed to have a skinned knee. I would also always catch a cold during Christmas or January, my birthday. It never failed. Do you have any idea what is like to be sick at the same time every year? When I was 7 I had pneumonia for the first time. I was so sick that I missed over a month of school.

Ever since I was little, I have been going to a wide variety of doctors. I have never been able to bend over. My back just doesn’t curve like it is supposed to. When my mom would ask doctors, they would say, "Maybe it is normal for her." She even thought at one point that I might have Cystic Fibrosis, so she had me tested. When the test came back negative, she was relieved. Meanwhile, I had no idea anything was wrong. I thought that I was just like everybody else. This went on until I was 11 years old. About a week before Christmas that year, my dad’s cousin, who is a pediatrician at the Mayo Clinic, was in town for a convention. My parents told him about my medical history, and asked him what he thought. I remember him asking me to walk up a flight of stairs, and to walk down a hall. Within 10 minutes he told my parents that he thought that I had a myopathy. That was all it took. I had been going to doctors for years that said that nothing was wrong, and he diagnosed me in 10 minutes by just watching me! He arranged for me to have a muscle biopsy done at the Mayo Clinic in January. I was diagnosed the week before my 12^th birthday. At the time I was 4 feet 10 inches and weighed only 58 pounds. After the biopsy, I went through a wide variety of tests. We found out that I also had very bad respiratory problems, my lung functions were only 40% of normal. The doctors told me that I would only live into my second decade. They also told us that there wasn’t anything we could do about it.

The week after I got back, I was put onto a respiratory machine called the Bi-Pap. It was really hard going back to school and knowing that I was really sick, when I didn’t feel sick. For the next year things started to get a little harder but I was still able to go to school. But by the spring of ’95, I was no longer able to go to school, and the next year I started home schooling. After that things started to get bad fast. By June of ’97 I had developed scoliosis, and my lung functions were down to less than 20%. The good news was that I had grown and gained weight. Unfortunately, as I gained weight, my scoliosis increased. Right now, I weigh 90 pounds and am 5 feet 3 inches. My scoliosis is now over 90%. In March of this year I had to start using a wheel chair. It was one of the hardest decisions that I have ever made, but I didn’t have a choice.

I think one of the hardest aspects of having this disease has been missing out on so much of my adolescence. Sometimes when I think of everything that I have missed out on, I get really depressed. I mean, I missed out on going to my eighth grade graduation, lots of school dances, dating, learning to drive, and countless other things. It is also really hard to accept it when things that I used to be able to do, I can’t do any more.

There are so many people of all ages out there with this disease. I know a little girl who has the infantile form. The first thing that tipped the doctors off that something was wrong, was her enlarged heart. Instead of trying to find out why, they told her parents that they would find out during her autopsy. She is just one of so many, and none of them are expected to live past a year. There are also adults out there that have it. Some of them were even diagnosed as teenagers. I have gone through many changes since I was diagnosed 5 years ago. Most have been bad, but I’ve also formed some wonderful friendships with people who have taken an interest in me and have tried to help. Thank you for reading my story.

Tiffany

Trae
( Adult Form )

I was diagnosed in 1991 at age 22 with AMD. I also have a sister who is severely affected with the disease. She was diagnosed 13 year ago at age 20.

In college, I began to notice that it was getting difficult to walk up stairs. I would get very winded, and my muscles would burn. After two muscle biopsies, I was diagnosed with AMD.

After college I married and got pregnant. In my fifth month, I began to have serious problems. I became extremely weak and short of breath and was unable to walk more than about 10 feet. I was put on a Bi-Pap machine for nocturnal ventilation. Haley was delivered by cesarean section on September 9, 1993.

After Haley's birth, I was determined to regain my strength and get off of the Bi-Pap machine. I did regain some strength but was never able to rebuild my pulmonary functions which are now 26% of normal. The disease is still slowly progressing. I have trouble keeping on weight. I am 5'4" and weight 93 pounds. My sister who is more severely affected is 5'7" and weighs 70 pounds.

I have been told that I should not have gotten pregnant--that it probably accelerated the progression of the disease. But even so, I would not change a thing. Haley is what my life is all about. She keeps me going and makes me smile on those days when life seems so unfair.

Robin
(childhood form)

At 16 years of age, Robin was an accomplished violinist and had just won a major regional competition when she came down with flu symptoms. Severe fatigue and weakness followed, and she could no longer attend school. A year later she was finally diagnosed with AMD.

Robin's condition continued to deteriorate and just when she was about to give up her violin studies, she was selected by Very Special Arts to perform as a national Panasonic Award winner at the Kennedy Center in Washington, D.C. She took this opportunity to travel to North Carolina and New York to visit specialists recommended by AMDA. Under their guidance, Robin started using a Bi-Pap ventilator at night and went on a special diet and exercise program.

In the following year, Robin gained more than 15 pounds and gradually regained some of her strength. As Robin could no longer commute long distances regularly, she moved 90 miles to live near a university hospital and her music activities.

Today, Robin is finishing high school through a public school home tutor and continuing her musical pursuits. She recently won the honor to perform as a national Yamaha Young Artist. She serves as concertmaster of her orchestra and plays first violin in a string quartet which has performed for President Clinton among numerous other engagements. Robin is planning to go to college and hopefully waiting for the upcoming enzyme replacement therapy.

Robin's mother

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