Neurologist Visit at Shriner's

Today was Nicholas's first appointment with his neurologist, Dr. Barry Russman. Dr. Russman is extremely knowledgeable about SMA and was so friendly and personable. Nicholas, my mom, and I liked him straight away. First off, he told us about a new drug that is being used with SMA patients that is looking very promising for overall strength in children. He said that because Shriner's is a research hospital that he will be able to prescribe it as soon as it becomes available for use. He said that he is hoping it will be available to Nicholas within 6 months to 1 year. (Sorry all you SMA parents, he did not tell me the name of it-I will ask next time we see him in June).

He then asked me about Nicholas physical movement at this time and observed him for awhile and told us that Nicholas seems to be a weak type II, meaning that while he cannot sit-up on his own for an extended period of time, he can sit up for a few seconds, and he is eating well and breathing well on his own at this time. I am so glad we made the decision not to travel to Utah, because Nicholas most likely would not have qualified for that study anyway.

I had a list of questions for him and he answered them all with thoughtfulness and patience. He recommended that we not start Nicholas on Valporic Acid & L Carnitine because after listening to Dr. Kathy Swoboda speak on the data from the Carni-val Type I clinical trial in Utah, the drug showed very little improvement in gross motor function in young children. He also referred us to a pulmonologist at OHSU who will evaluate Nicholas in a sleep study. The sleep study will determine how many apnea episodes Nicholas is having at night while he sleeps, if any at all.

We also saw a speech therapist, a dietitian, and had Nicholas fitted for leg braces and a body brace. The leg braces will help keep his feet straight and steady when he begins to use a stander and the body brace will help his posture and hopefully off-set scoliosis. He did great the entire 4 1/2 hours we were there...even without a morning nap!

We are so grateful to have so many amazing doctors dedicated to helping our family. We honestly feel so lucky to live so close to such a great place that truly cares about children.