03/06/2012
Jane Larkindale

We had another really interesting session this afternoon, and one that highlighted to me just how far we have come.  Several people talked about how patients’ disease course is different now than it was in the past.  We also got to talk about “transitions”  — what happens to people with pediatric diseases as they grow into adulthood?  What a great issue to have to discuss!  That means that enough patients are now living long enough to have to think about adulthood.  We may not have cured these diseases, but disease management is having a great affect on patient life.

Two of the other talks discussed changes in the descriptions of the diseases over time.  That is, how the diseases have changed due to improvements in care.  These talks really highlighted how interventions are helping patients, even in the absence of cures!

Dr. Kathy Mathews talked about the MD STARnet project — a project that is designed to describe all patients with Duchenne and Becker muscular dystrophies.  The investigators have collected a lot of interesting data — starting with things as simple as how many people have these diseases and going into things like how long it takes to get diagnosed and how care has changed over time.  For example, in recent years more patients are seeing heart and lung specialists, while more patients are now using mechanical non-invasive ventilators and the number of patients getting tracheostomy has decreased.  These, and many other trends in improved care are responsible for increased quality of life and increased lifespan in these patients.

Dr. Ericka Simpson spoke about the changing natural history of ALS. Like in DMD, a large number of interventions have changed the disease, even though we have no cure yet.  She talked about how much we now know about the disease, how that affects a patient’s care and how it will affect the development of new therapies. She emphasized how a multidisciplinary approach to care really improves patient survival.

The other talks in the session talked about the best ways to care for patients — what to do for the best possible outcomes.  Dr. Ross Hays talked about palliative care (i.e., treatments that are designed to maximize the quality of life, as well as end-of-life care), and how to optimize this to get the best outcomes. 

Dr. Craig McDonald talked about how to maximize independence for patients with NMDs.  He talked about use of steroids, including when it is best to start using them and the advantages and disadvantages of their use.  He showed data demonstrating improved breathing and reduced scoliosis in steroid-treated patients, in addition to the patients walking longer. He discussed a whole list of issues that patients may have, and what we can do about them — scoliosis, contractures, leg weakness, weight gain (or loss), etc. He also discussed some really cool new technology that can help patients maintain independence — robotic arms, voice-activated technologies, eye gaze systems, etc.

Dr. Gita Ramdharry discussed her work to determine if exercise is beneficial or harmful.  As an exercise freak myself, I certainly found this an interesting question.  We are all concerned about overworking weak muscles and making them worse, but we also know that muscles will get weaker if they are not used.  How much is right?  What exercises should patients do?  Dr. Ramdharry discussed the data supporting the advantages and disadvantages of different kinds of exercise for patients with different diseases.  Exercise can help maintain flexibility, reduce muscle stiffness and may reduce pain in some conditions.

OK — now I want to go for a run myself — but there is a really interesting poster session going on next, and I can’t miss that!  Save that thought for (early) tomorrow morning.