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 laptop 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.
Nine year old Luke has recently been accepted into the Early Access Program.
A news story on Luke ran on Capital News 9 in June 2005.