January 23, 2015

Addison, the Puzzler

The question on everyone's lips is, "How is Addison doing?"  And that is such a loaded question I often dread to answer it.  I have sat down to type an update a number of times but each time there is so much information I become overwhelmed.  And to be honest, I find it difficult to summarize because it is like a big oxymoron.  Last week Addison's Physical therapist said, "Everything is such a puzzle with you, Addison. "  In a meeting with his geneticist a few days later we heard the same exact thing again.  And that is life with Addison.  A big puzzle. 

And perhaps it is because there are so many variables no one can work them all out.  When considering a problem, such as his hypotonia, it could be neurologically caused by confusion in his brain waves.  It could be driven by side effects of the high doses of prednisone.  It could be related to down syndrome.  It could be permanent.  It could be reversible.  It could require time to heal or it could require intensive therapy.  Despite extensive research and contacting experts in the field, we have no more answers than we did back in September.

He is truly the healthiest child I have ever known.  And yet he has more than a dozen doctor appointments this month and 2 stays at Children's Hospital.  He has never even had a runny nose or cough in his entire life and yet it takes 45 minutes to sum up his medical history and a team of doctors that can fill a room to keep him going from day to day.   

On one hand Addison is doing great.  He has not had a seizure in 116 days.  He loves to chatter, read books, knock over blocks and watch the general comings and goings of this crazy family.  He loves cars, planes, trains and anything with wheels.  Bubbles and balloons make him happy.  He is such a pleasant, social and inquisitive child.  And we all delight in him. 

On the other hand, he is doing horrible.  He has made almost no developmental progress since he weaned from the prednisone.  While he was in treatment his hypotonia went from moderate to very bad and despite constant therapy he has not improved at all in these months.  His neurologist is amazed at his lack of seizures without medication.  And yet he is sending us for another EEG because his lack of progress could be an indicator that the Hypsarrhythmia, the chaotic brain waves responsible for the infantile spasms, has returned. 

After weaning off the prednisone, Addison began losing weight.  No amount of extra nursing has helped him gain weight or even stopped the losing pattern.  He is down 4 pounds and dropped from the 90th percentile (pre prednisone) to the 5th percentile.  To make matters worse he picked up a stomach bug and he barely even nursed for days.  He continues to have lower intestinal distress and he continues to lose ounces every day. 

Despite his mouth surgery at 20th months old he is still unable to swallow properly, can eat no table food, nor drink from a cup or a bottle.  We work with 2 speech and feeding therapists, including one known as the world wide guru for children with Down Syndrome.  Every day we work on exercises to strengthen his mouth, train his tongue and teach him to eat.  And yet, he exclusively breast feeds because he can not get food down his throat.  In a meeting with his geneticist last week she suggested we consider having a feeding tube inserted.  Needless to say, that would be our absolute last resort. 

Our pediatrician is running tests to find the cause of the weight loss but even those are challenging.  Addison has very tiny veins which collapse and roll very easily.  We have been sent away from the lab more than once because they couldn't get a draw.  His thyroid test came back abnormal, which could very well be linked to prednisone.  We have to wait for two weeks to do a repeat test for confirmation. 

Please pray we can quickly get a breakthrough in his eating and that we can see some weight gain every single day.