LUCAS’ Story

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.

Luke’s Mother

Update—January 2004
Nine year old Luke has recently been accepted into the Early Access Program.

Update—January 2006
A news story on Luke ran on Capital News 9 in June 2005.

More Stories

McKenna’s Story

McKenna’s Story

January 2022 I am McKenna Wellner and I was diagnosed with Pompe disease at 19 years old and I am now 20.  I first noticed symptoms the beginning of...

Dwayne’s Story

Dwayne’s Story

December 2021 Hi everyone, my name is Dwayne; I am 53 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50...

Genevieve’s Story

Genevieve’s Story

January 2022 My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe disease at the age of 40. Here is my story. In my early...

Elizabeth’s Story

Elizabeth’s Story

January 2022 I was diagnosed with LGMD when I was 12 years old.  I had difficulty all my life with running, going upstairs, and doing sports, but no...

Margo’s Story

January 2022 This is Margot. She is almost two years old from Kentucky. She loves to swing, paint, and keep up with her 4-year-old brother. When she was born, there were no concerns. We went home and adjusted to our new life with baby number two. 8 days later, we...

Haley’s Story

November 2021 My name is Haley Hayes. I am from Virginia. I am 16 years old and was diagnosed with infantile-onset Pompe Disease at 6 months old.  I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In the...

Caitlin’s Story

August 2021 My name is Caitlin Naldoza. I am 17 years old and was diagnosed with late onset Pompe Disease at 5 years old. I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In middle school, that was when I...