During Rare Disease Week, I turn over DNA Science to a family battling a rare inherited disease.
I’ve been following Max Randell, who has Canavan disease, in my human genetics textbook since he was a preschooler – he’s now 17, thanks to gene therapy. Although Max is bright and cherished and happy, life has not been easy.
A year ago DNA Science covered how Max’s experience has inspired his younger brother Alex to become a neuroscientist. My gene therapy book tells the story of how a handful of Jewish people escaping Nazi murderers in a Lithuanian ghetto carried the disease to the US, although like any inherited disease it isn’t confined to one group.
Canavan disease is an enzyme deficiency that melts away the myelin that insulates brain neurons. When Max was born, life expectancy was about 8 years old. But today, with excellent speech, occupational, and physical therapy and earlier diagnosis as doctors become more genetics-savvy, most patients with Canavan disease live into their teens or even their twenties.
Here, in honor of Rare Disease Day 2015, is Ilyce Randell, one of the truly amazing parents I’ve met over the past few years who is finding the funding that is necessary to understand, treat, and possibly even stop these diseases — even if they cannot be reversed.
“Trying to explain to someone what it’s like to raise, love, and save a child born with a rare disease is difficult, and painful beyond words. The world of rare diseases can be dark, depressing and lonely. To raise awareness about a specific rare disease is to let the world into your life, into your deepest hopes and dreams, and even your darkest fears.
I was still new to raising a sick child. My baby was about 6 months old and lying in his stroller. We were in an elevator when two women began telling me how gorgeous he was (imagine cupid – chubby, electric blue eyes with a pile of golden curls). They asked if he was tired. I looked at them and said, “No, he’s not tired, he’s dying.” The elevator doors opened and I walked out.
Looking back, I should have let them feel the joy of seeing such a beautiful baby, but I hurt and I wanted them to know that even though Max looked beautiful and healthy, he was indeed dying. I think I also needed to try out saying it aloud to strangers. That’s when I realized this would be a long and painful process, and one day, if he lived long enough, the stroller would be a wheelchair and he would not look so healthy anymore.
At the moment I learned of Max’s diagnosis, I decided I would do anything necessary to save his life. After countless interviews, appearances on talk shows, raising millions of dollars for research, experimental gene therapy, experimental medicines, and a million trips to Capitol Hill, Max has already beat the odds. He is now 17-and-a-half years old.
Along the way, I’ve been explaining what Canavan disease is to anyone who would listen. Part of that explanation is always to let people know that Canavan is a very rare disease, not rare as in affects under 200,000 people, but rare as in a couple hundred kids. There is really no money for research besides what we as families are able to raise.
We have been very successful garnering attention and funding for Canavan disease, but there is still a long way to go. It can be a sad place, but with the sadness of rare disease I have found immeasurable love so pure that the light it shines brightens even the darkest corner of the world. This fight is exhausting, but my baby was born with a rare disease. My job as his mom is to raise awareness about Canavan.
Ilyce Randell, Director
Canavan Research Illinois
PO Box 5823
Buffalo Grove, IL 60089