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!!

Anthony's First Day of Preschool!!

Today was Anthony's first day of preschool and the start of a whole new journey for all of us. We prepared last night and all woke up early for the big day. Although hectic, it was kind of neat that we all worked together to make it out the door to drive the 35 minutes to the North Shore Education Consortium. We were greeted with all the excitement that new beginnings bring. Anthony's teacher took a family picture and had all the children in the class say hello to their new friend. Gianna spoke so kindly and nurturing to him as she wheeled him around. And before we knew it it was time to say goodbye. I knelt down and kissed him on the forehead and said, "have fun at school buddy! Can you say bye to me?" He turned his head away and wouldn't look at me! He knew something was very different and I could tell he didn't quite know what to make of it. So just like that we were out the door. In the lobby Gianna got teary and said "I'm going to miss him!"..my sentiments exactly! How precious coming from her! I shed a few tears myself when we got to the car. Our life for 2 and a half years has been full of Early Intervention therapies...5-6 per week. I have sat in on nearly all of them. And now, I will be dropping Anthony off for 5 hours a day, five days a week. Life certainly is going to change. It's funny how change often happens at the appropriate time. Anthony's been getting bored at home and I've been finding it more of a challenge to keep him entertained. He is so ready for this next step. I've felt the need for more therapies for awhile now, and he'll get that at school. While he's there I'll also have a chance to spend more less-divided time with Gianna (and Leo). All of it is very, very good. It's just so bittersweet. Babies grow up, needs change, and the role of motherhood evolves. I am thrilled to see my little guy thrive. When I picked Anthony up he was looking at a book with his teacher and his new friends were giving him toys to play with. He was so happy and engaged, he barely noticed my arrival. It's not always easy to let go (a little!) and maybe even harder when your child has special needs. But boy is it amazing to know that they are thriving, growing, learning and loved. Isn't that what truly matters most?