SMA Clinic

On Monday Riley had a very successful clinic day.  He first started with his DEXA scan (fancy name for bone scan) and despite the lack of stander time the past few months he actually has new bone density growth in his hips! There was a slight decline in his overall bone density but he's also grown amost 5 inches since his last one. She told us that bone scans in kids can vary dramatically depending on any recent growth spurts. Riley is so patient with the scan, not that it hurts or anything it just takes about 30 minutes to do so a long time to wait for a 4 year old.

After the scan we headed back down to clinic for the head to toe exam and emg readings. 

Riley's not a big fan of the emg I'm sure the electric shocks delivered into your wrists are pleasent, but he did really well.  We were all very curious to see what the results would be since Riley endured a major illness this year and most the time these kiddos have huge setbacks from it.  He has had some decline in function with his right arm/hand since he got sick. It's getting better but he still doesn't want to initiate any movement with that hand. We were shocked to find that his emg readings were nearly identical to the ones he had done back in November! INCREDIBLE! After being so sick he has essentially made a full recovery. To add to the fantastic news he also grew nearly 5 inches since they saw him last! He is now 44 inches tall which is 95%. He actually is probably a few inches taller if it weren't for his scoliosis so my 4 year old is pretty much a giant. So overall he is doing very well and is remaining stable. We then discussed a new drug therapy trial that is currently in the saftey phase meaning they give it to healthy patients first and then assess any complications before deciding to go forward with furthur trials. The drug, Isis SMNRx, is injected directly into the spinal fluid. With out getting to technical the drug boosts SMN protein production by fixing a defect in the RNA splicing.  The SMN protien is what is required for motor neuron function. If the drug can effectivley stop the defective RNA then it would stop the degeneration of the motor neuron units.  Ideally you would want to give this drug to a known SMA carrier before they are symptomatic that way they would not experience any motor neuron loss.  If the drug passes phase 1 then it would go on to the next phase of giving it to healthy type 2 and type 1 kids. Riley could potentially be a good candidate because he has a long clinical history of stable emg readings and is overall very healthy.  What the drug would do for Riley would essentially preserve the function he has beyond that she doesn't know what would lie ahead after that. It's possible that the function he does have could be increased because the neurons that are left would actually be firing correctly. On the down side there is no way of getting back the neurons that have died off.  Maybe one day they will be able to grow an entire nervous system but currently not likely.  This drug is a huge step in finding a treatment and possibly a cure for SMA. It's one of the most promising treatments that are in trial today. If all goes well with Phase 1 then Phase 2 wouldn't be getting underway for a year or two. I just hope that Riley continues to be healthy and stable enough to be a possible candidate for this therapy.  If you are interesting in reading a more indepth note on the drug I found this article http://ir.isispharm.com/phoenix.zhtml?c=222170&p=irol-newsArticle&ID=1640792&highlight
It was so hard to imagine that something like this could be with our grasp in Riley's life time. Maybe he'll get it maybe he won't but here's to hoping.