Well here  I am again. Getting frustrated with my son Shaun, lately he has been very moody and not sleeping and does not listen. Probably the age and steroids. Being so patient but it is wearing thin. I think that he is starting to realize that he is different.

Then there is Austin my 2 year old. He is so sweet and always smiling. Thankfully he does not have to start steroids anytime soon. Then I will have two moody boys. I'm bad saying all this stuff.

I just wish this huge…

What follows are but one Christian's reflections on our first Easter with Duchenne.  I'm not out to convert anybody, but only to share with those who share our beliefs.

This Sunday will be our first Easter with Duchenne.  Not that its ugly face wasn't there before; we just didn't realize it.

Since last Easter, my wife and I have experienced a great deal.  Bitter tears, dark nights of the soul, doubts, desperate prayers, DNA tests, diagnosis, healthcare shuffling,…

On ClinicalTrials.gov you will now see that the ACE-031 study is terminated.

While this news is frustrating, it is not unusual in drug development.   We all wish it would be a straight path through each phase of the clinical trial process to approval, but that is often not the case.   Drug development often has stops and starts, when a SAE (serious adverse event) occurs or questions about dosing arise.   This results in days and weeks of discussions about the cause of a…

first conference in Merida, Yucatan, Mexico.  This is a major step for UPA! and will be focused on promoting early and accurate diagnosis and standards of care. Their intention is to identify healthcare professionals with a willingness to specialize in interdisciplinary care for Duchenne muscular dystrophy.  May 14 will include families and patients as a first step to…

I’m not much of a winter person which must cause people to wonder why I still live in Maine.  Some days I don’t really know why I stay, especially in the dead of winter when the nights are so long and cold, but this is where I was raised and I like the independent nature of the people and the rugged coast. It isn’t an easy place to live due to the harsh winters, but for someone looking for a sparsely populated state with plenty of all year outdoor…

April 7-9, 2011

Guangzhou, China

The flight from LAX to Guangzhou was 15 hours or so. It was long and felt a little frightening, heading to a country vastly different from my own. My very limited knowledge of China has been acquired from tidbits on the news.   I was aware that for the last 20 years or more, China has practiced family planning as a basic policy. This family planning policy advocates each couple to have one child in accordance with the family planning policy.…

I’ve just spent two weeks in a row on the road at different meetings—first the Health Research Alliance (HRA) meeting in New York and then the Muscular Dystrophy Association meeting in Las Vegas.

HRA is an organization made up of most of the major non-profit funders of health research -- the members meetings are designed to keep us up to date on the latest trends in research and funding and to allow us to learn from one another.  I chair the HRA Working Group on “Funders of…

This is one of the most difficult blogs I have ever written, but I wanted to make sure the community heard it from us first and has accurate information.

Lee Sweeney has been diagnosed with throat cancer. The diagnosis came on an ordinary day. Lee and I were on the phone on a regular ‘catch up’ call. Lee had spent the previous two weeks in Dallas. His father had a stroke and Lee (typical) was caring for his dad and holding his mom and sisters together. There was fatigue in…

The Story of Ataluren, or in simple terms:   Looking beyond the p-value

I recently participated in a “DAY OF DIALOGUE, ” in an effort to explore the development of ataluren, the story of the science of post transcription , or the possibility and probability of interfering with mRNA in order to affect the course of a disease.   Thankfully, they started with Duchenne.

Founded in 1998, PTC  has focused on developing  ataluren as well as other…