We checked into see Dr. Freedman at Rady’s Children’s hospital.  We are her first appointment and they take us right back.  Dr. Gold comes in to take a history of Alexis.  It takes us well over an hour to write the “book” of Alexis.  He goes through her history in a very systematic way, knowing that every detail, every piece of her journey, could be a clue as to what is going on with her now.  Thank You, Lord, that we have someone who is taking the time to do things the right way.  Dr. Gold looks at Alexis’s function, her gait and analysis her cognitive abilities.  He is very good at collecting the data and putting the pieces together, he also makes the appointment relaxed and fun.

Dr. Freedman comes into the room with an intern.  She introduces herself and explains that Dr. Gold has filled her in on the history.   She lets us know that her Cystic Fibrosis test came back negative.  Thank You, Lord!  She looks at Alexis’s function and her gait, wanting to see if any of her Dystonia is showing through her medication.  She does see the fact that Alexis has a little bit of dyskinisea (mild tremors in her fingers).  That could indicate that she is taking too much Sinemet.  She sits down and goes over the highlights of what’s been going on in the past year with Alexis’s breathing.  She does notice, upon examination, that Alexis is wheezing quite a bit.  After a lot of conversation about her history, illness, etc. Dr. Freedman goes over the pathways for Dystonia and the specific gene mutations.  She explains the relevance in understanding which gene mutation we are dealing with and the possibility of that helping us to understand if Alexis’s breathing problems could be related.  After four hours in her office, she comes up with a plan.  She is sending us to another pulmonologist, another ENT, and wants us to cut back Alexis’s Lodosyn.  Alexis is currently taking Lodosyn  (the inactive part of Sinemet) along with her Sinemet so that more Levadopa can reach her brain.  Dr. Freedman thinks she could be getting too much dopamine.  That is something I’ve wondered about for 5 years and have also expressed a concern for other patients starting on the drug (always saying too much dopamine is just as bad as too little).  We have a plan in place, now we have to keep praying.