Monday, April 26, 2010

My Beautiful Son!

So I'm sure I am not alone when I say that I carry around quite a bit of good, old fashioned mother's guilt. From the small stuff to the large, to the stuff that seems large but is actually small...the feelings are usually fleeting but are there none the less.

Today I am feeling especially guilty about one thing in particular and it has to do with this very blog. You see, in all my efforts to "get the word out" about Anthony's struggles and try to alleviate some of the mystery of our lives for the past year or so, I failed to do the most important thing. I failed to introduce you to my precious, beautiful son.

Anthony William Micalizzi Jr. is a vibrant, happy, charming little boy who captures the heart of all who meet him. He has a gigantic, contagious smile (which his neurologist once said you could "drive a truck through") and an infecitious giggle, especially when his big sister is the cause of such laughter. Lately I've noted that perhaps because one of our early concerns was that he wasn't smiling or laughing, he is making up for lost time...there's certainly no shortage of either now!! His bright blue eyes sparkle behind his long lashes and even his adorable little glasses cannot hide the kindness and wonder they hold.

He loves to be held, played with, and talked to...and isn't very happy when noone is paying attention to him. He is a good sport when Mommy and Daddy request that he show off his newer tricks..."where's Mommy? Daddy? Gianna? Nana?", "Give me a kiss!" (to which he responds with a kissing noise), "Where's the light?" (he looks up to find it.)

He is also very patient and hardworking when his therapists are working with him (although it is more like play than work!) For the last 4 months or so, he has also become very motivated to move around! He now rolls over both ways and is trying so hard to move around to get to toys he'd like to play with. The past couple of weeks he has been getting his knees under him while on his belly and I have even caught a quick glimse or two of him up on his elbows and knees at the same time. One of his doctors tells us if he has the motivation to move he will find a way. She said it might not look pretty but he will....To me it will look like the most beautiful thing on earth!!

In addition to his awesome belly laugh, his cooing and babbling fill my ears with happiness...even more now that oohs and aahhs have made way for yaas, daas, and baas (a very exciting time in his development!)

Anthony brings overflowing joy to our family each and every day. If you've never had the pleasure of meeting him, I can assure you he would brighten your day if you did. If you have, please feel free to leave a comment about this amazing little BEAUTIFUL SON!!!

Wednesday, April 14, 2010

Mass EI Consortium Conference

I had the amazing opportunity to attend the Massachusetts Early Intervention Consortium Conference in Marlborough today and yesterday. Yes, I stayed over thanks to the loving support of my mom and wonderful husband. In addition to the obvious...a much needed great night's sleep...the conference completely exceeded my expectations. It was AWESOME!

It started with me just happening to sit down next to a woman I had been told to look out for (I only knew her name, and we were wearing name tags) amongst the hundreds of people there! She is an awesome mom from this area who shares many of the same joys and struggles and I have a feeling it was the start of a great friendship. She also introduced me to another mom who she met at last year's conference and I can say the same of her!! We actually stayed up close to midnight sharing our feels great to talk and network with people who truly understand what you are going through.

I spent two days attending informative and empowering workshops for parents of special needs children and early intervention professionals. I have to say...I feel rejuvenated and excited to implement strategies that I learned to propel our family further down this journey!! I am so grateful I was given the opportunity to attend and I hope to share more info about what I learned in future posts.

Appoinment Updates- Neurology

We saw our neurologist last week as well. He is looking at the same tests as genetics so we didnt get too much new info from him either. He did show us Anthony's MRI and explain the abnormalities. Since I didn't have a "normal" brain MRI to look at and compare it to, I really didn't have a great idea of what I was looking at but he should us the area of white matter that was underdeveloped and told us that it shoud be "darker by now." He also told us that an MRI can measure certain protiens in the brain using some kind of sound waves and that Anthony's level of one particular protien was abnormally high. This has pointed them to one particular genetic disease that they are now using cells they grew from his skin biopsy to test for. The thing is...he really doesn't completely fit the profile of this disease.

The neurologist told us if he has this disease it is "very bad." He said that it is a progressive disease (gets worse over time). Anthony, on the other hand, is continuing to make gains and learn new skills. I asked what the next step will be if this tests comes back negative and he said he doesnt know...they have pretty much tesed him for everything they think it could be. He said theere are plenty of other things to test for but he doesn;t want to run batteries of tests for a "shot in the dark." He wants to be strategic...which I agree with and appreciate.

On a positive note, there was a discussion months back about putting Anthony on medication for his tightness and some startling that he experiences (which has gotten much better by the way.) Becuase Anthony has such a blooming and active personality the neurologist has decided that he does not want to consider medicating him at this point and in any way hinder that personality. He also told us that the medication they were considering was colonipan...thank GOD that discussion is off the table!!!!

Appointment Updates- Sleep Doc

We also had an appointment with a new (YAYYY) sleep doctor last week. We had a HORRIBLE experience with "the" Dr. Ferber, sleep guru, 5 months ago. To make a long, ugly story short...he was crass and rude, didn't bother to even look at Anthony, let alone consider his special needs...and demanded that we stop swaddling him (he needed to be swaddled because his tone would cause his arms to move and wake him up) and change his schedule. When I suggested that I thought there might also be some other things affecting his leep...he cut me off and said, "well there may be, but until you do what I'm telling you, I don't even want to discuss them." The WORST!

Anyhow, we tried a little of what he told us for a couple of days and then I called and told the, we wanted to see someone else. They made us an appointment with a sleep doctor in the Neurology Department (he is also a neurologist)...clearly who we should have seen in the first place.

Dr. Lipton was AWESOME. He had some of the same advice as Dr. Ferber...but his bedside manner was phenominal...and he really "gets" Anthony and his issues. He also realizes that there is no quick fix, and that likely there will be many steps involved in figuring out Anthony's sleep issues. He also is sending us in for a sleep study to rule out any kind of sleep disorder (sleep apnea, etc.) The following is our new sleep regimine:

Bedtime: 9:30 p.m.
Wake-Up Time: 6:30 a.m.
Naps: Not to exceed 1 hour per day (can be split into 2 1/2 hours)

This time schedule is aimed to make Anthony totally exhausted by bedtime in hopes that he will not be able to resist sleep. He does wake 2-3 times throughout the night...usually every 2-3 hours...last night he went 4 1/2 hours! He is sleeping in his crib...and I should mention prior to this he had been sleeping in my bed, in my ARMS! He has had a terrible time relaxing his muscle to sleep and often grunts and "thrashes" until he is completley and deeply sleeping. Since starting this new routine last week...this has gotten MUCH, MUCH better.

I have also obtained a copy of Baby Go to Sleep...a CD on contiuous lullanies with the sound of a heart beating in the background. VERY soothing!! I play that on a contiuous loop throughout the night.

So far, so good...hey, at least he is now sleeping in his room!!!

Appointment Updates- Genetics

So I've been finding it really difficult to get on here and make updates (surprise, surprise!) I wanted to post something after each of our appointments last week but never had the chance. Amidst the several that we had, we also celebrated Gianna's 3rd birthday...HOORAY!!So needless to say, things have been a little crazy (which basically means it's been business as usual.)

Anthony had 3 big appointments in the last couple of weeks. The first was with his geneticist. Luckily we only saw his Doc and not his fellow (I think she's a 4th year resident.) She is famous for squealing "eewwwww, he drooled on me!!!" she's always a real pleasure to deal with! We were expecting to have some results back from his latest round of testing but nothing was back yet. The doctor did tell us what they were testing for, a few very rare genetic syndromes that Anthony doesn't completely fit the profile for, but I honestly couldn't recall them if I tried. I suppose I could have written them down, and I'm sure some of you reading this are thinking "why the heck didn't she!" But honestly, they are so rare and I figure there is no point in me researching them and worrying about what I read if he doesn't actually have any of them. And as some of you that I've spoken to about this already know, I am really kind of "over" finding a diagnosis for Anthony. It really won't change love for him, his treatments etc....But there is one reason I am uneasy without the diagnosis, future children and risks for MY children's children. UUUGGGHHHH....*sigh*

The big take-away from the appointment, and the VERY difficult part for me, was that they tell us that they are concerned about the potential risk that this could repeat itself in future children. PLEASE, PLEASE don't get me wrong...I LOVE my little boy with every fiber of my being. I wouldn't trade him for the world and he ALREADY has given me so many amazing gifts. I just don't know how we could manage having another child with his level of need. So they are asking us to wait at least until this next round of tests comes back....I guess 5 weeks or so. Which is totally fine because we weren't planning anything that soon anyhow. If it comes back positive they will be able to give us more information on the exact odds....if not they will give us a 0-25% chance of recurrence. He also briefly introduced some options with genetic technologies (if we happen to get more genetic information about his condition) but we are not at that point yet and honestly it is so overwhelming to even consider any of that just yet.

So all in all, we really didn't hear much new info from this particular meeting...we go back again in a couple of months and will probably reciave more info before then....