Tuesday, February 7, 2012

Preliminary Diagnosis

Feeling blue after the upsetting Patriots loss this past weekend? I have a real-life hero living under my roof that you can cheer on and I assure you he won’t disappoint! He doesn’t make a multi-million dollar salary but for as hard as he works with a smile always on his face, I assure you he deserves one.

Anthony made us overwhelmingly proud on Saturday when we decided to bring his Pacer to an indoor play place. We stood by in awe as he strolled over 30 steps at a time. He’s taken a few steps very slowly before but we’ve never seen anything like we saw this weekend. So I’ve decided it’s time to make some recent news we’ve received public (and hopefully cheer up you heartbroken Pats fans.)

On April 5th, 2011 we met Dr. Jim Filiano for the first time. I was recommended to him by the amazing Krauss family (a beautiful story for another day.) He is the most kind and gentle, yet equally brilliant man. He had a hunch but really didn’t explain it fully at the time. He started Anthony on a “treatment” based on that hunch and in the meantime ran a ton of tests to try to figure out a diagnosis for Anthony. We were intrigued by the idea of the possibility of treatment but didn’t focus much on it. I know that might sound strange, and someday when I write a book I can explain it better.

Since this could turn into a very long story, I’ll get to the point. When we went back to Dr.Filiano for a follow-up, a lumbar puncture was ordered to test his spinal fluid for the “hunch” he had been “treating” Anthony for. I was glad because I didn’t want to keep giving him yet another medicine everyday if it wasn’t necessary. On December 5, 2012 I was emailed the results of the lumbar puncture. Anthony tested positive for a Cerebral Folate Deficiency. Two days later we were in Dr.Filiano’s office at Dartmouth-Hitchcock, listening to him tell us that Anthony had a preliminary DIAGNOSIS after 3 years of unanswered questions. And the most amazing part....it could be TREATABLE. Since his levels of folate were still low at the time of testing, we immediately doubled the treatment medication which produces folate directly in the brain. Last week we doubled the medicine again.....and then came the walking.

We still are at the preliminary phase of diagnosis. Dr.Filiano is still unsure as to whether or not this diagnosis is primary or secondary to something else. Cerebral Folate Deficiency is extremely rare so we are still not sure what the treatment will do. But Anthony continues to amaze us as he always has. The bottom line is this...my son is my hero. He smiles more than anyone I know. He will light up a room when he enters it, whether he is being carried or he strolls in with his own two feet. His spirit will move you and I can’t wait to share with you his next big accomplishment...I hope you’ll agree, it will be just as exciting as any Superbowl!! video