There's a scene in the movie "Dumb and Dumber" where Jim Carey's character asking Lauren Holly's character what the realistic chances are that a guy like him ends up with a girl like her. After some hemming and hawing, Mary Swanson (Holly's character) gives Lloyd Christmas (Carey's character) the devastating news.
"Not good." Mary says.
The heartbroken Lloyd asks how not good. "You mean, not good like one out of a hundred?"
Again devastation. "I'd say more like one out of a million."
After a long pause, a smile breaks out across Lloyd's face. "So you're telling me there's a chance. YEAH!"
You're probably wondering what this has to do with INAD and our journey. Great question.
A couple of months ago, I was Googling "infantile neuroaxonal dystrophy" to see if there were any stories out there about INAD. Most of them I had seen, but one caught my attention. It was a GlobeNewswire press release from a drug company called Retrotope. The headline read "US FDA Grants Orphan Drug Designation for Retrotope’s RT001 in the Treatment of Phospholipase 2G6 (PLA2G6)-Associated Neurodegeneration."
I didn't exactly understand what that meant because I speak English, not science. Basically though, what the press release said is that this company was granted orphan drug status for a drug aimed at treating INAD and the gene that causes it (the PLA2G6 gene mentioned in the headline). There was a lot of other information in the release, which made me want to investigate further.
What I found was that Retrotope had not only developed this drug, but was doing compassionate use trials with two children with INAD. The company reported that the drug had appeared to "have arrested progression" of the disease and had led to a "re-acquisition of lost development milestones" in one patient that had been using the drug since March 2017. This was in an announcement that a second patient would be added to the compassionate use study to see if the results could be repeated.
A lot of things went through Mary and I's heads when we read this. Disbelief, shock, surprise. Ok those are all one thing really, but we did have some other emotions. And we've had a lot more since then. Not long after we found out about the drug, we contacted Retrotope and encouraged other families to do so. We had a great conversation with the CEO of the company, the acting Chief Medical Officer and others involved with the study and the company, who is hoping to start clinical trials in the near future.
While we know that this drug isn't a cure for INAD (we feel that Dr. Kotzbauer's research into gene therapy at Washingon University has that potential), Retrotope was enthusiastic about the results that their drug produced.
And we are enthusiastic too. We hope and pray that the drug can slow down INAD and give Grace some of her skills back someday, if she is fortunate enough to be involved in the clinical study. Even if Grace isn't part of the clinical study, we are still enthusiastic. This study means that things are happening in regards to curing and treating this awful disease. Even if it just slows down the symptoms, it will mean huge things for children who are diagnosed with INAD and maybe buy them precious time until we can find a cure.
We're not telling you that Grace is ok and that this drug, or something else, is going to cure her. But we are telling you… there's a chance.