by Alan Fingeroot
Our son Andy died of Canavan disease when he was 15 years old. This is our story. No parent should have to endure the heartache of a child affected with a Jewish genetic disease. These diseases are preventable if you know your carrier status before you get pregnant.
Andy was a beautiful baby with an infectious laugh and a happy personality. He was born in July 1983, just 18 months after his brother Joel, and died in 1998. Andy was afflicted with Canavan disease, a progressive fatal neurological disorder that we had unknowingly passed down to him.
Within a few months after Andy’s birth, we began noticing that he wasn’t meeting developmental milestones, such as holding up his head or rolling over. At the time, no one could identify what was wrong with him. It was not until 1998, after being misdiagnosed with cerebral palsy and several other disorders, that Canavan was identified and diagnosed.
Canavan disease is cruel. It robs the body of essential enzymes that cause deterioration of the brain, preventing the proper transmission of nerve signals. Andy never crawled or sat without support. He never walked or talked. He had no muscle support. He had seizures. At one point, he could almost hold a spoon but quickly lost that ability. Because he had difficulty swallowing, his body could not take in sufficient solid foods and fluids. He was often dehydrated, which exacerbated the seizures. As an infant, Andy cried, but quickly lost that ability as well.
For us the most important thing was to treat him as normally as possible. We played with him, teased him, and worked to give him the best quality of life possible, which at times meant making difficult decisions regarding his care. First was the insertion of a feeding tube that was placed through his abdomen as a means of delivering nutrition. In this way, he didn’t suffer through the difficulties of swallowing. The second was a rod that was inserted into Andy’s back to help his posture and relieve some of the pressure on his spine, due to severe scoliosis.
We knew that if we were both carriers for Canavan disease and that there were others in our large extended family that were as well. At a Chanukah celebration when Andy was first diagnosed, we asked each member of our family to give a blood sample that would be sent to a lab for testing. We did a finger prick before presents. It turned out that 8 members of our family on both sides were carriers. Andy’s older brother Joel, who does not have Canavan, was not a carrier. If, like us, both parents are a carrier of the same disease, there is a 25% with each pregnancy of having an affected child.
So much has changed since Andy was born. So much can now be diagnosed and prevented. If there is any positive that has come out of this experience is that we can be ambassadors for the importance of being screened and knowing your carrier status for Jewish genetic diseases. In this way, you can make informed decisions about how to have healthy children.