This past 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.”

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Comment by Ofelia Marin on August 27, 2010 at 11:00pm
Also, forgot to add, the only opinion that really matters at such and early age is their son's neuro doctor. That is the person who knows exactly what type of testing/therapy your son needs. Making an appointment with one of the specialists in the field is the most important advice I would give them. There are several good clinics they can chose from, one being Dr. Tseng's. Christine McSherry can give them more info about it, she is also from MA.
Comment by Ofelia Marin on August 27, 2010 at 10:45pm
I got your point Christine. I just think that it is quite difficult to have DMD specialists in each town (large or small) since this is a rare disease, I do not think that's really feasible unfortunately. I agree that they should have a doctor, at least the pediatrician who consults with the specialists and can send them to the right place in case of emergency. Of course, I know that after a certain age our sons need to see several specialists, as DMD is a very complex disease. I am not very familiar with baseline respiratory as I was under the impression that the boys cannot complete those tests at such an early age. In fact, Dr. Wong did not advise us to do this at my son's age (almost 3). EKG/ECHO can be performed at such an early age under sedation or they can wait a little longer (probably until the boy is 3.5-4) and sedation is not needed. I also believe that MRI is a much better form of testing, several cases were reported where EKG/ECHO were normal but MRI did show scaring/fibrosis in the heart. I do not think that a specialist would recommend an MRI at age 2 1/2 unless EKG/ECHO are abnormal, very unlikely at this age. I agree that monitoring is very important but I think that it is also important to look at the age of the patient and do not jump the gun. From my experience, it can be very overwhelming to discuss with parents of older boys when your son is so young, you can easily miss a number of good years in your son's life just concentrating on what other parents tell you that can/will happen to your son. Just one example, when my son was diagnosed, I kept reading on this forum about all the cognitive delays/learning disabilities/autism etc. etc. etc. and was watching my son with a magnifying glass every single day instead of enjoying his symptom free years. As it turns out, he does not have any of those so I lost important time and energy concentrating on what happens to other boys instead of mine. I would tell the parents of a 2.5 yo just diagnosed to enjoy the years when they do not have to worry so much about steroids, cardiac and respiratory problems. Before they know it, time comes when they really need to worry about these and many more, no need to treat your 2.5 year old as a 4-5 year old before the time comes. Just my two cents.
Comment by Christine Piacentino on August 27, 2010 at 9:20pm
Ofelia, I think you missed my point. My point was that this family should have one doctor in their hometown that is willing to consult with specialists in Duchenne. This family is still a few hours away from Dr. Tseng's clinic and will need someone locally whether it's their pediatrician or another specialist that is willing to reach out to duchenne specialists and seek advice on the best care in an emergency situation. This family was advised to get baselines on cardiac and respiratory care and be fellowed every 6 months to watch for changes so preventative measures can be put in place. I am very well aware of being followed the specialists every six months. My son sees, two nurologists, and endrocrinologist, a pulminologist, a cardiologist, as well as has a dexa scan and ecg every six months. I forced the issue for my son. Because at 8 years old I was told he was too young. My son was diagnosed at 4 and is now 17 and still walking. At that time, we needed to become our own advocate. The standards of care where not in place at that time. The advice given to this family was that their son is not too young to obtain a baseline and be monitored every 6 months, so preventative measures can be put in place at the first sign of change. I'm also well aware that each boys progression and needs are different, that's why the monitoring is critical.
Comment by Ofelia Marin on August 27, 2010 at 8:42pm
If the family is from MA they do not need to travel far. Dr. Brian Tseng is great and the clinic is set-up for comprehensive care. They do not need Cincinnati Children's, the best possible care is close by. They could make appointments to be seen by the team regardless of steroids. My son was diagnosed at 3 months old and we had appointments every 6 months since then. This is the only way to obtain the best advice for your son... each boy's progression and needs could be different.

Happy to hear that Utah can accommodate your IND!
Comment by Christine Piacentino on August 26, 2010 at 9:06pm
Thanks Ofelia, we have spoken with the University of Utah, things are in the works and moving forward. We just need to the process to work through the University's IRB and the FDA.

This family was in Massachusetts. However, Docs won't usually prescribe steriods for duchenne patients so young. Daily stretching, night splints, regular sessions with OT's and PT's. There are different options for steriod dosing regimes as well depending on the kid. We reviewed some of clinics that offer comprehensive evaluations and reviewed specialists like respiratory, and cardiac. Not all clinics in the country are the same, some a better than others and many families travel. So if a family travels to a specialist it is critical to be followed locally, Families need a doctor locally that is willing to listen to the specialists as well as the family who is living Duchenne everyday. In the event of an emergency a duchenne patient will be taken to the nearest hospital. Families will need to advocate for their child to ensure their safety and as well as proper care. Not everyone will have a Cincy Children's in their back yard.
Comment by Ofelia Marin on August 26, 2010 at 6:55pm
I really hope PTC moves faster and Jon can take the drug again.

I am intrigued about the part of you and Pat providing guidelines to the family of the 2 1/2 year old just diagnosed. What exactly have you advised them to do? Don't they have access to the specialists in the field? I would not expect a pediatrician to know or give any advise concerning DMD since they are not specialists.
Comment by Christine Piacentino on August 25, 2010 at 8:01pm
Thanks Jenn, yes we agree we don't like this little twists. I hope that the exon skipping study provided some insight as to the drug really doing something.

Lisa, Yes, I totally agree I thought it was an excellent quote.
Comment by jenn on August 25, 2010 at 6:46pm
what an insightful young man! i too hope that he gets back on the drug, it is a horrible twist to have had a carrot dangeld in front of you....we have almost completed the short non-ambulatory stdy of exon skipping, austin was a trooper. he hopes they will invite him back when" the drug will really do something" i do too
Comment by Lisa Groeger on August 24, 2010 at 11:09pm
Excellent quote!

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