This month was a series of ups and downs. At the end of July PTC released an update on the Ataluren Data at International Congress of Neuromuscular Diseases. The information was similar to that released before. The low dose study showed benefit versus the high dose. There was really no timeline determined for next steps or additional information, blah, blah, blah. The most interesting thing that came out of the press release was that PTC has explored the feasibility of investigator-initiated individual INDs with patients who were treated with Ataluren in a previous clinical trial at a U.S. site. Jon participated in the trial at the University of Utah. IND stands for Investigational New Drug. This means that the drug has not received regulatory approval and it’s up it’s up to the drug company that makes the drug to allow for this type of access.
Based on the information provided in the release we needed to conduct the trail site where we participated in the trial. I contacted the University of Utah. I was told that the University needed to discuss the next steps internally and with PTC. The Doctor who ran the study would call us back within the next week. We got the phone call the following week. Yes, we could participate in the IND; there were still things to work out. It would be another couple of months.
More hurry up and wait. This is typical when dealing with Duchenne. My family has learned to treat all the good news with that a little bit of salt. We don’t want to get our hopes up too high. It just makes it more difficult to come to terms with things when our expectations are not really met. When I spoke to Jon about the latest news, he said “That’s OK mom I think I can hold on for another couple of months as long as I can get back on the drug.” “I will be able to get back on the drug, right?” I said, “I’m, pretty sure you can Jon, but it’s up to PTC to allow it. They manufacture the drug and they need to allow it to be made available.” Jon looked at me and said “I hope that company has someone with a little humanity running it and not just looking to make big bucks.” “I know that drug companies need to make money in order to survive, because it costs so much to develop and bring a drug to market.” “But, in the mean time kids like me are losing function, which will never return!” Mom, do you think they get that?” I said, “Yes, Jon, I think some of the leaders of PTC do get it.” “I’m not sure if everyone gets it.” Jon looked at me and said “Yeah I know, you kinda have to live with Duchenne to really get it”. “It’s not like Cancer, where you can have radiation and chemo and then normal function returns.” “When I lose any function, I know that it will never come back, that part just sucks!” “I hope that PTC and Utah can come to an agreement soon, so I can start taking the drug again.” I said “I hope so too Jon”. More waiting and hoping for both of us.
The following week I was contacted by a new family that recently received the news that their son had Duchenne. Their son was 2 and ½ a little young to start steroids. Pat Furlong and I held a call with this family and provided some guidelines of care in the short term until their son is a little older. With the help of Pat and Parent Project Muscular Dystrophy I felt strongly that this family didn’t feel so alone in dealing with Duchenne. It really upsets me that not all Duchenne clinics are the same. Families not only have to deal the Duchenne diagnosis, but also have to become experts. Throughout the years I have come across some arrogant Doctor’s. Usually when they don’t listen, my single question that usually stops them and makes them think is “What would you do if this was your son?” They need to stop and think for a minute as to what I am trying to convey regarding care for Jon. Sometimes, we agree to disagree, but sometimes they start to think that my point of view may have some merits. I have been very lucky in finding a pediatrician that will work with me. My pediatrician early on said. “OK, you know far more about the care and treatment of Duchenne than I do”. Since my insurance is like an HMO. All the specialists must be approved by my pediatrician. She and I have developed a good working relationship. She agreed to review all the latest literature on the best care practices for Duchenne that I receive. After her review she provides her medical opinion. With the help of the pediatrician Jon, Mike and I decide what’s best for Jon. I sincerely hope that this new family can find at least one Doctor to help them navigate the medical intricacies’ of Duchenne, and guide them to seek the best possible care for their son.
This past weekend, Jon needed his senior pictures taken. He wanted one of the cheaper packages. He really made me laugh when he said “Mom, it’s just a picture, so let’s not go overboard.” He could have two outfits, one casual and another a little more formal. The pictures came out great! He had a good time posing and was thrilled that the casual look with his signature fedora and black rocker t-shirt and black jeans made him look older and cool. He felt like just a regular high school senior getting his picture taken. Duchenne is always in the background no matter how “normal” you endeavor to make things.
To deal with the ups and downs of life in general especially with life with Duchenne my family tries to find humor in most situations. I feel like I’m standing on my head with my pants torn most of the time. To quote Irvin S. Cobb: “Humor is merely tragedy standing on its head with its pants torn.”
