Featured Family of the Month(If you or someone you know would like to share their story, please send us your information.)

Hamlin family and Pompe disease

     Eric Scott Hamlin was born on December 1, 1987. He is the first and only child born to David and Kathy Hamlin. It was not until Eric was approximately three or four years of age that he was diagnosed with Pompe. In Eric's early developmental years, he was a little slow in some of his motor development; however, when we questioned his doctor regarding this, the doctor's response was that it was not that uncommon. Eric walked at approximately two years of age and there were other indicators of slow motor development, including not being able to hold his head up, not rolling over when age appropriate, etc. When Eric's father, David, was involved in an auto accident and began seeing a chiropractor it was on one of these doctor visits that Eric accompanied his father to this doctor. The chiropractor indicated to us then that he believed that there was something wrong with Eric's walking and that we should have him seen by an orthopedic specialist. It was at that time that the specialist recommended we see a metabolic specialist. We proceeded to see Eric's current doctor, Dr. Susan Winter, who indicated that she did believe there was something wrong with Eric. However, she was not anxious to really confirm a diagnosis with us at that time and suggested we wait with having a biopsy performed. On our own, we then went to see a neurologist who diagnosed Eric as having Duchenne Muscular Dystrophy. We were told by this doctor that Eric didn't have long to live. We were devastated. We then proceeded to go back to Eric's metabolic physician, Dr. Winter, who was upset that we had seen this particular neurologist. She indicated that she didn't believe it was Duchenne Muscular Dystrophy and believed it to be a condition that we had never heard of, Pompe. It was at that time she requested that we have a muscle biopsy performed on Eric to confirm what she suspected. This procedure was performed and the muscle sample sent to Baylor Medical Center. Through this muscle biopsy it was then confirmed that Eric had Pompe Type IIB.

      When Eric was approximately five years of age, after much research, Kathy, Eric, and Eric's Aunt Diana traveled to New York to see Dr. Slonim. However, due to the age that Eric was at that time, and the stubbornness that he displayed, a diet/nutrition program was not able to be put into active use.

     During the course of the years following the diagnosis of Pompe and our visit to Dr. Slonim, Eric stayed very healthy. He was able to walk, however, he was not able to participate in many outdoor activities that a normal, healthy child would be able to do. He was not able to run normally, walking up and down stairs required much effort as did getting up and down from the floor from a seated position. He has never been able to ride a bicycle, skate; however, has loved to go swimming, camping, fishing, etc. Certain tasks such as walking, getting off a chair, picking himself up off the floor when he falls, climbing stairs, and dressing himself were becoming harder and harder for Eric to do; however, Eric never did complain. When other children would mimic Eric's walking at school, he never would let that bother him.

      When Eric was in the sixth grade, due to the fact that he began to fall down quite a bit at school and just out and about, plus due to the fact that long distance walking was causing him to fatigue more easily than before, we made the decision to purchase a wheelchair for Eric. The wheelchair was a useful tool for Eric; however, he never wanted to have it at school. He indicated he would rather walk than have to have it at school. Eric continued to do relatively well. He rarely had a cold or the flu. We were very lucky that Eric stayed healthy for the length of time that he did.

      In the month that preceded July 12, 2001, Eric was rapidly getting weaker and weaker. His speech was beginning to get slurred, he was not able to walk but only a few steps, and he began to experience numbness in parts of his body. We immediately went to see our primary care physician. A few blood tests were taken, however, those came back normal. It was then on July 12, 2001 that Kathy telephoned Eric's primary care physician and the doctor's office indicated that the blood results came back normal and that there was nothing this physician could do because "it was a natural progression of the Pompe disease." Not believing that this was the true cause of Eric's rapid loss of strength, Kathy proceeded to the emergency room at Children's Hospital in Madera, CA. It was at that time that an oxygen mask was put on Eric and Eric then went into unconsciousness. It was later learned that his CO2 levels were at 132 . We believe that this oxygen mask should never have been put on Eric as apparently he already had retained too much oxygen, thereby by giving him more oxygen this made him go into unconsciousness. The hospital tests indicated that Eric did not have any type of virus to weaken him. It was later determined that at night when asleep his breathing was inadequate. Eric was then in the hospital for about a month. While he was in intensive care, the doctors indicated to us that they believed that Eric should be put on complete ventilation because his diaphragm was not functioning properly. It was at that time that we agreed to this procedure. During Eric's stay in the hospital, it was hard to get across to the hospital staff that Eric was able to walk when he entered the hospital, however, staff at the hospital never tried to have him walk, much to our dismay. His long stay in the hospital was more due to the fact that the hospital had to train David and Kathy regarding taking care of a trached child rather than Eric's physical necessity to be in the hospital. Eric now follows the protein diet that Dr. Slonim recommended years ago.

     Since Eric's release from the hospital he has been through physical therapy; however, has not been able to walk since July 12, 2001. He becomes quite depressed when it is trach-change time. The trach changes had been extremely painful for many months until the doctors finally found the right trach for him. Eric is able to get around well in his wheelchair and loves to taunt his three dogs and kitten with his wheelchair as he moves about the house in it. Due to the fact that Eric now requires 24 hour nursing care, David quit his job in late April to take care of Eric full time. No outside nursing services are available in our area of California.

     Eric's one love is playing baseball and dreams of becoming a pilot. He and David spend much time playing baseball.

      Eric celebrated his 15th birthday on the 1st of December. He is a truly gifted child. He has always been the highest achiever academically in school. The teachers are amazed at how smart he is and he has already tested at college level for all academics.

Go Back