Parents and doctors were concerned about Chuck Goodman’s health from an early age. In fact, they thought he had a deadly case of childhood leukemia. At around age five, Chuck had chronic fatigue and an enlarged spleen:

“I had a really big belly for a child of that age, and I looked kind of pale.”

Chuck was sent to a hospital and underwent an array of tests:

“Unfortunately the tests included a bone marrow biopsy… I remember the test very well: they numb up your skin and stick a needle into your hip. They then draw out the marrow from your hip, and unless you’re sound asleep, it’s a very painful procedure.”

The bone marrow biopsy identified specially altered “Gaucher cells”, which are abnormal macrophages that appear due to the buildup of glucocerebroside. Chuck’s parents were relieved to receive the diagnosis on one hand because it meant he wasn’t going to die of leukemia; on the other hand, they had never heard of Gaucher disease.

While both of his parents were carriers, to their knowledge, no one in their families had ever had the disease. 

About Gaucher Disease

Gaucher disease is a genetic disorder that leads to a lack of the enzyme glucocerebrosidase, causing abnormal buildup of fatty substances in different areas of the body. This buildup can lead to a variety of symptoms. The disease is caused by a genetic abnormality affecting the GBA gene, which is responsible for the normal function of the enzyme glucocerebrosidase that normally breaks down glucocerebroside. Symptoms of Gaucher disease include enlarged spleen and liver, discolored skin, anemia, increased risk of infection and bleeding, osteoporosis, reduce sense of smell, impaired cognition, severe joint and bone pain, muscle twitches, dementia or intellectual disability, apnea, and convulsions. Neurological symptoms vary depending on the type of disease present. Gaucher disease patients are also more likely to have Parkinson’s disease. Therapies for Gaucher include enzyme replacement therapy or substrate reduction therapy. To learn more about Gaucher disease, click here.

Chuck’s Story

At the time he was diagnosed, there was no cure or treatment for the disease: 

“As a child and an early adult, I still had the big spleen and the big belly, and they were always afraid that contact sports or physical activity would cause me abdominal trauma and rupture my spleen, which is a life-threatening thing to have happen. I couldn’t play a lot of games in school. I was restricted and treated basically as a sick child, even though I felt okay…there wasn’t much they could do.”

Common symptoms for Chuck growing up included constant fatigue and easy bruising. From time to time, he would also experience bouts of bone pain that he compared to the pain crises experienced by people with sickle cell disease. It wasn’t until Chuck was a young adult that a new treatment for Gaucher disease was introduced: enzyme replacement therapy. The treatment was a game changer and has helped control some of Chuck’s symptoms, but he still lives with concern about developing Parkinson’s disease (which his father, who is a Gaucher carrier, has). He continues using this method of treatment today.

Chuck drew on his fascination with science and love of working with kids to become a pediatrician. Today he lives with the symptoms of the disease mostly under control:

“Something I’m sure you’ve heard lots of times is ‘I’m not going to let my disease define me,’ but it does. I think if you have a chronic disease then in many ways it does define you. And it might be somewhat naive to say that it doesn’t…but it doesn’t have to rule you and take over your life. I’m going to live the life of a Gaucher patient, but I’m going to do the things I want to do and lead a life that I enjoy.”

Chuck is in his sixties now and has lived a much more active life as an adult. He has run the LA Marathon and has taken up horseback riding. 

Chuck’s experience living with a chronic illness has helped inform his career as a pediatrician, as many of his patients live with chronic diseases as well. 

“As a patient with a rare disease you need to be your own advocate. You’re the best advocate that you can find. While it’s important to have a care team of doctors and family members to help…no matter where you go, doctors may not know that much about it. Be an advocate and a teacher.”