Canavan Disease

I felt like the worst mom in the world. I received a call from our palliative care provider asking if my son would like a home visit from Santa since we missed the family Christmas party. I politely declined saying Maxie was an adult and at 20 years of age he was “too old for [...]

Nothing can prepare you for the loss of your child. I’m positive this is true. I’ve heard these words from many parents who have lost their children. Even though I haven’t experienced this loss personally, I know it must be true. There is absolutely nothing in this world that can prepare you for the loss of [...]

“When you hear hoofbeats think of horses, not zebras.” In medicine this is a reference telling doctors to first look for a more common explanation of symptoms before searching for a rare or obscure diagnosis. It makes perfect sense. First rule out the more simple possibilities until those yield no diagnosis, then begin searching for [...]

“Wow, that’s the best looking G-tube site I’ve ever seen!” Those were the first words I heard from the PICU nurse about my son. At the time he was unconscious and using a ventilator, but I understood what the nurse meant. My son is 19 years old and has had a G-tube for over 13 years. I know [...]

With Rare Disease Day approaching there is an important distinction that needs to be made because “rare disease” does not give an accurate description of Canavan disease. Canavan has recently and more appropriately been designated as an “ultra-rare disease.” While I fully support and understand the need to make people aware of rare diseases I [...]

“We might need to intubate.” There are few words that I have been anticipating and fearing as much as these. Even though my son, Maxie, was born with Canavan disease and is 19 years old, he has enjoyed extremely good health with only about three respiratory illnesses in his entire life. This is not by accident. We [...]

I was recently told my 19-year-old son would need a cough assist machine. At first I didn’t think much about it, but then it hit me and I felt the meaning in every cell of my being. As I reflected back his day of diagnosis, the air rushed from my lungs and I felt my heart being ripped [...]

When news that a drug company first became interested in a tiny disease like Canavan, it seemed like a dream come true. It was the exact thing we had all been hoping for. The research and technology I have been tirelessly advocating for and funding since my child was diagnosed in 1998, had been sold for [...]

My story is not unique. Many parents who have children diagnosed with extremely rare diseases have confronted the same challenges I have faced. When your child is diagnosed with a fatal, devastating and progressive disease, and you’re told there is nothing you can do to help them, you have pretty limited options. You can find [...]

1. Curing a mouse in the lab does not equal a cure for humans. Unfortunately, science does not always translate immediately, or ever from a murine model to human patients. There are countless mice who have regenerated motor function or been completely cured while children have not. This is due to many reasons ranging from how [...]