In the State of the Union speech last night, Obama said “We do big things”. It made me smile. Some days ago in an interview with Diane Sawyer, Mike Kelly, the astronaut husband representative Gifford (D, AZ). He spoke about his sorrow, sitting by the side of his wife, praying that she will fully recover after the gruesome shooting in Arizona. Ms. Sawyer asked if his perspective has changed after viewing the earth from the Space station. Mike Kelly smiled a very gentle smile at the question. It said a lot about his courage, his dedication and his love. He described the earth as a blue marble, with amazing variations of colors and light. From space, he was unable to see barriers. He said there are 7 billion people on earth, each person with a story, each person with a dream. He talked about the fact that he did not see us conquering space anytime soon and building homes and businesses on another planet. Rather, he said – we are all we have, and to that end, we have to look at this blue marble and figure out how to work together. As I listened, I could not help thinking about our sons, 250,000 out of 7 billion people, each one of them with a story, a hope and a dream.
January has flown. I spent most of my time running. Actually running, literally, for some of it. Ok, my definition of running may be different than an actual marathon runner, so let’s just say I completed the ½ marathon at Disney and managed to cross the finish line before the Disney bus found me. 27,000 runners and I was one of them, one of the team, running for something I believe in.
I missed a lot of the pre-Super Bowl excitement over the last couple of weeks because I have been traveling. I spent some time in London with Helen Posselt. Helen is the most experienced physical therapist in the world and is filming characteristics of Duchenne. I am sure that every parent of a child with Duchenne could make a diagnosis from a mile away, so why is it that primary care providers (pediatricians, family doctors, nurses, physician’s assistants, physical therapists) seem to miss it? You may already know that Holly Peay leads our Task Force. This is a program funded through our cooperative agreement with CDC. The goal of this program is to promote early diagnosis of muscle weakness in children six months to five years of age. Duchenne is typically diagnosed around the age of four, but if you know what you are looking for, it is pretty obvious earlier, much earlier. Helen is filming head lag, abnormal gaits, early gower – the very subtle changes, clearly visible early if you know what you are looking at. The hope is that the primarily healthcare community will then think to draw a CK. The messages to the professional healthcare community include: ‘developmental delay, include a CK’ and ‘watch them walk, run, jump’. Incorporating these very simple messages into primary healthcare systems, will raise awareness for muscle weakness and improve diagnosis. The effect will ripple to include early intervention, participation in clinical studies, acceleration of treatments, and one day, cure.
From London to Amsterdam, I spent time with Elizabeth Vroom to discuss gaps in care and how we might address these gaps internationally. In December, the second workshop on endocrine issues in Duchenne was held at Kennedy Krieger Institute. In an effort to continue the momentum, two working groups were formed, led by Leeanne Ward, M.D. with Alan Rogol, Ken Attie, and Doug Biggar. We organized a call last week to discuss next steps. We have agreed to develop a one-page fact sheet for clinical care providers and families for growth including pros and cons of rhGH treatment for bone, to include pros and cons of bisphosphonate treatments, and puberty to include the pros and cons of testosterone treatments. PPMD will also begin development of separate surveys to gauge attitudes concerning short stature (is shorter better in terms of self-esteem?), delayed puberty (is this ok?), and obesity.
One of the most frustrating areas is small muscle. Clearly smooth muscle lacks dystrophin and some (many? – we simply do not know) of the boys have smooth muscle issues. These can range from bladder problems of frequency and urgency in the little boys, gastric reflux increased with chronic steroids, and constipation. We are reaching outside the Duchenne clinical community in an effort to recruit smooth muscle expertise and hope to inspire a GI/GU clinician to expand our interdisciplinary approach in an effort to help our sons.
Several weeks back I received a call from Chris Garabedian, the new CEO of AVI. He was flying into Columbus to meet with Jerry Mendell. Columbus is easy for me, a short drive. Nationwide Children’s Hospital is a leading center for Duchenne and Woodruff Avenue, my old stomping ground. Chris and I had a few hours to talk about issues, concerns, needs as we work together to accelerate exon skipping. We discussed regulatory issues, models for trials, and this critical need. I followed up with Nick Catlin (Action Duchenne) while I was in London. We all want this to move forward and will do it with One Voice.
It felt like old home week as I participated in Treat NMD’s TACT meeting in Charlotte. TACT is a process of review. Researchers/clinicians submit applications to the TACT and TACT convenes individuals with a range of expertise capable of discussing the science, clinical approach, and regulatory issues. The TACT had received applications on Duchenne and SMA. I had a moment to discuss the multi-site trial comparing Losartin and Lisinopril, update the Sildenafil trial at Kennedy Kreiger, as well as, the Idebenone study scheduled for Children’s Hospital of Philadelphia.
Last week, Nationwide Children’s held a meeting about the heart, demonstrating one more time significant clinical variability, some centers initiating ace inhibitors or ARB’s at a certain age, others with changes on echo. It is universally agreed that cardiomyopathy directly impacts survival in Duchenne, but we simply do not know if the natural history of cardiomyopathy has changed and led to increased survival and we have yet to define a high-risk phenotype for mortality. Cardiac therapies are available but we need to understand if they actually have an effect in changing the pathophysiology. Discussions covered a range of topics and opinions, and at the end of the day, it is pretty clear we need a Duchenne cardiac registry. We need clinics to actively participate in data collection in order to better understand the etiology and to inform the development of treatments.
In the middle of this, we have been working with PTC on the access program and next week a meeting with Shire. As I ran this morning, I had to smile as life sometimes feels a bit like the Hasbro game of Whac-A-Mole, taking the direct approach to slam obstacles and barriers. It isn’t simple, nor is it a one approach fits all. Rather it is a comprehensive look at every child, at every age, identifying scientific opportunity, leveraging dollars and advocacy to accelerate treatments for every individual diagnosed with Duchenne.
As we look toward the One Voice Summit on February 14, I hear the words of President Obama: “We do big things.”