Tuesday, October 19, 2010

New AFO's mean special shoes...

Anthony was fitted for new AFO's a couple of weeks ago and he got them yesterday. For those of you who don't know, AFO stands for Ankle/Foot Orthotic...just a fancy term for the braces Anthony wears. He got his first pair of AFO's when he was 11 months old, a year ago in December. The new pair is much bulkier and has straps not only on the top (at about mid-calf) but also at the ankle. Since these AFO's are bigger, Anthony also needed new sneakers. With the old braces, we were able to buy him wide Nike's and he's worn the same pair ever since. We got them for the bargain price of $16 (thank you Modell's!) So tonight we headed out to search for new kicks. The orthotist told me that New Balance was probably the best brand because they make extra-wide's. Well...we went, we tried, we bought...but the experience was crummy!! Don't get me wrong, the girl who helped us was very nice. We were able to get the shoe on (with a bit of annoying effort) and tie it...but it kinda looked awful. I felt deflated...I just wanted to go and buy my kid a pair of cute sneakers. Then I remembered that my wonderful friend who also has a kiddo with an AFO just bought her daughter a pair of specialty sneakers (called Hatchbacks) and loves them! They are really cute too and super easy to put on! I just ordered a pair and will return the New Balance sneakers. It just made me realize how lucky we are to have a wonderful support network of friends...and that we have these great things available to use that some of the "pioneers" probably didn't. And as a side note...Gianna got a snazzy new pair of shoes from tonight's shopping experience...All's well that ends well!!


Sunday, September 26, 2010

For those with patience!

I cannot BELIEVE it has been so long since I have posted. I have been carrying around a lot of guilt about this...honestly, the summer has gone by like a blur! It was filled with beach days with Nana, BBQ's, a great vacation to Point Sebago....I have thought about posting at least every other day....and lately its gotten to the point where I wasn't sure where I'd begin BUT I'll give it my best shot!!!

"Baby Anthony" is so not such a baby anymore. Just looking at him he is such a little boy now! He got his first haircut in July. I was apprehensive about getting rid of the curls but I couldn't hold big Anthony back anymore! He didn't mind it so much (although he HATED the second haircut a few weeks ago.) He looked soooo handsome and grown up...Daddy and I shed a few proud tears of joy.

If any of you have seen recent pics of Anthony on Facebook, you may have noticed that he is "sans" glasses in most of them. No, this is not because he doesn't need them anymore....rather in true toddler fashion, they don't last more that a minute before he pulls them off and tosses them aside. I am thrilled to report, however, that at his eye exam 2 weeks ago his vision was in the normal range for a child his age!!!! HOORAY! He still needs his glasses because his eyes turn in (both of them at different times), so I am hoping (but VERY skeptical) that the new adjusted prescription might be more comfortable and he MIGHT keep them on.

One of the most frequent questions Anthony Sr. and I get from family and friends is whether or not we have received an official diagnosis for Anthony's condition. Back in July we met with Anthony's geneticist and we discovered that Anthony does have a variant in one of his genes. They do not know for sure if this is what has caused Anthony's issues but they are suspicious. In order to confirm the theory, they needed to do a series of other tests, including testing myself and Anthony Sr's genes for the same variant (to see if we are both carriers.) After what felt like forever, the Dr informed me last week that I DO NOT have the variant, which surprised him. We are waiting for Anthony Sr's results. What does all of this mean? Well, it's hard to say. The disorder that they are suspicious of is extremely rare and has never displayed symptoms in a child so young (the youngest anyone has shown symptoms was 8-10)...it is basically a disorder that occurs in early onset adulthood! Sooooo...its so rare that even if they confirm that it was what Anthony has, they wouldn't be able to give us much information or prognosis. At this point, I have no idea if they are close to finding a cause for Anthony's challenges...which honestly doesn't really bother me. He continues to make progress...and most importantly...HE'S HAPPY!!!!!! The truth is...no one has a crystal ball, so we cherish every moment, take things as they come, and feel truly fortunate that we have this amazing little boy that has and continues to bring us abundant blessings!! We have an "ATTITUDE OF GRATITUDE"!!!!

Anthony continues to receive many therapies every week. He has two physical therapists, an occupational therapist, a development specialist, a vision teacher (who also performs cranial sacral therapy weekly), and a speech therapist. He works very hard but also has a lot of fun! All of his therapist marvel at what a social and aware boy he is. Despite his physical limitations, he has a wonderful ability to connect with people...especially with his contagious smile and infectious giggle!

He continues to make awesome progress in his physical therapy sessions. He now rolls over with ease...we sometimes wonder how he can make it across a room so quickly! He is also working very hard at what I think is best described as a "worm crawl". He gets his knees up sometimes and pushes forward, but often gets his arms stuck underneath him. Boy though, does he have DETERMINATION!! He keeps trying and this mama knows that HE WILL GET THERE! Last week his outpatient PT got a "Mini-Pacer" for him to use. Picture a very high-tech walker on wheels that supports his upper body. Right now he is learning the he can move while upright. Next will be showing him that he can incorporate his ability to step reciprocally...and then my boy will be WALKIN"!!!

His speech therapist has been working hard developing a "total communication" program for Anthony, using a combination of pictures for choice-making, some adapted sign-language, and switches to activate toys and "talk" or read stories. Anthony has been consonant babbling (ma, ma, ma, ba, ba, da, da) for a few months. I am confident that he will be verbal (to what extent, I have no idea) but it is THRILLING beyond explanation to see him communicating in these other ways.

Anthony had another phenomenal appointment at the Augmentative Communication Clinic where he successfully used switches to activate toys, LEARNED TO CLAP!!, and used an incredible adapted computer program. We are currently in the process of trying to obtain a variety of unbelievable adaptive communication equipment for Anthony's personal use. His amazing speech pathologist at Children's Hospital actually got choked up during this session....saying "this is what makes me LOVE my job!" It was amazing to see!!

Anthony also started playgroup two weeks ago! He goes into a classroom (set up like preschool) for 2 hours each week with his OT as his one-on-one aid. I sit in the parent room with other mom's. He seems to like it so far...I've been told that he has been a quiet observer. I am excited about this new step for him!

In other very important Micalizzi news...Anthony's proud big sister started preschool at the Cole School in Boxford this month!! Gianna is loving it...so independent and confident. On the first day, we drove her to school and she said "mom, your not going to come in today, right?" All smiles and no tears for her. As we drove away from the building I had my moment...as a few tears strolled down my face Anthony Sr asked why I was crying. I told him that yes, couldn't believe that our baby was off to school, but more-so that I was so proud of the well-adjusted little girl she is! She goes to school 3 afternoons a week (Anthony Jr. naps for an hour after I drop her off, so Mommy is able to get a bit done around the house!) On Thursday "Silly Nana" drops her off and picks her up as Anthony Jr has a full schedule. Each day after school I get a report (sometimes tough to retrieve!) on what her job was, what she ate for snack, and info on the letter of the week, among other important preschool happenings. Gianna also started dance at a new school this year (Just Dance)...every Saturday she does an hour and 15 minutes of ballet, tap, and acro dance (tumbling, jazz etc.) For those of you who know her, you know this is right up her alley...she is quite the little performer and has a bit of an affection for the spotlight! She is a joy and a great motivator and cheerleader for her brother!

SOOOOO...that's all for now. I am sure I have forgotten plenty, but I am thankful for those of you that have read this far. I hope to post more regularly...especially now that I have a new LAPTOP (thanks honey!!)

Thank you all for you continued support and prayers!!!

Wednesday, June 2, 2010


Last week Anthony was seen at the Augmentative Communication Clinic at Children's Hospital. We had the pleasure of meeting with Alycia Berg, Speech Pathologist.
I really wish that I had brought along our video camera to capture this amazing appointment, I am afraid my words here won't do it justice. Basically this clinic will help form a communication program for Anthony using a combination of picture boards, voice switches, adapted toys that he can easily activate, and computer programs, among other things.

link: http://www.childrenshospital.org/clinicalservices/Site2016/mainpageS2016P0.html

Anthony did such an amazing job at this appointment that it brought tears to my eyes. He was engaged in activity and played with the therapist for an hour and twenty minutes. I watched as he made choices by reaching out to one of two pictures, touched a button to ask for something to be repeated, to play music on a tape player, and to activate songs on the computer, played peek-a-boo using vocalizations...I watched speechless with joy!!

We will now be visiting this clinic every three months, adding speech therapy weekly to our Early Intervention team, and using a number of communication tools.

At the end of the session Alysia said that sessions like these are why she loves what she does...

It doesn't get much better than that!!!! I love my little guy and I am so excited to start this new adventure with him!!!!

P.S...Speaking of communication, Anthony can now touch his nose when asked, give high fives, respond vocally to "hi", and just started to refer to his sister as gggggee...LIFE IS GOOD!!!

Doctor's Visits

I've been itching to post forever and just haven't made the time. Now I'm faced with where to begin!! I meant to write after Anthony's CRAZY week of appointments (count them...6! and that's not including EI and PT visits.) Here are the docs he saw and the results:

*Pediatrician: Anthony visited the doctor for the third time in 3 weeks! At the first visit he was diagnosed with double ear infections and was put on ammoxicillan...5 days later he broke out into the hives (though so did his sister?) so they took him off the ammox. Five days later the ear infections came back...they put him on a three day antibiotic. It seemed to work but Sunday morning he seemed fussy, had a low grade temp, so back to the pediatrician we went...double ear infection! They put him on a third antibiotic, checked him on Thursday, and (knock on wood) he's been infection free for two weeks. PHEW!

*Nutritionist and GI Doc: Anthony's weight is up and he's back on his curve! At 20 lbs 9 oz he is also on the charts for the first time (3rd percentile!!) GO ANTHONY! The nutritionist said we could now use Carnation Instant Breakfast interchangeably with Pediasure to save on cost. I've been jumping through hoops to try to get the Pediasure covered but no luck yet. The GI doc is keeping him on the Prevacid for now and is feeling pretty good about the course Anthony is on...Have I mentioned that both of these people are AMAZING and I always feel so at ease in their appointments? I always feel like I've been to therapy after I leave Jan the nutritionist and ALWAYS get a good laugh or three with Dr. Walker!

*Augmentative Communication Clinic: see next post...just TOO great to not get its on post!!

*Orthopedist: Doc was so pleased with how much looser Anthony's arms and hands have gotten since the last visit 6 months ago. He also found nothing concerning on the exam so he didn't need to do a hip x-ray as previously thought. Anthony's muscle issues and decreased mobility make him prone to hip dysplaysia, so they will be watching for that. Dr.Matheney also wants Anthony to get a Benik vest...picture tight vest made of wet suit material...this will give him extra trunk support. He will get it at the end of the summer (when the weather is hopefully cooler) and wear it about 50% of his awake time. I am excited about this and its potential to give Anthony more trunk support and stregthen his upper body...

Monday, May 10, 2010

Some days are just easier...

I've been contemplating for the past few hours whether or not to post something tonight, but I decided it would be a great way to flush my system.

I get the "how you do it" question a lot. Some days its easy for me to answer...I just do, I love my son, I see the blessings these challenges have brought, it could be so much more difficult...different days call for different answers.

If I'm being honest though...today was just "one of those days." I know we all have them, mom of a special needs child...any mom at all.

Mostly it was just one of those days because, in perfect 3-year-old fashion, Gianna was exerting her "first-born female" independence. Try as I may, nothing I tried made a bit of difference...her listening ears were left on her pillow when she got out of bed this morning.

So needless to say I wasn't in the best mood by late this afternoon. I had taken Gianna to dance class and Anthony came along as he always does. After class she had to use to bathroom and that's when it hit me. It's happened before but today it had more of a lasting impact than usual.

Since Gianna was wearing her leotard and tights, I had to go into the bathroom to help her. Her classmates and their moms had already left. I can't bring Anthony's chair to the studio because its down a big flight of stairs. Anthony can't sit up...

I had to ask a mom, who I don't know, to hold Anthony while I took Gianna to the bathroom. She was happy to do it, and really it was no big deal...but I haven't been able to shake the rush of thoughts that have consumed me all evening. He's 16 months old....long since grown out of his carrier...can't sit up, stand, walk...I NEEDED HELP...

I can totally see the silver lining here...being able to ask for help is a great thing...I'm sure I made that woman's day that she could make a difference (however small) in someone's day...Anthony was happy (as usual) and was smiling all the while...these are the thoughts I repeat to myself when I feel trapped in what my friend refered to as the "jail of negativity"...

You ask me how I do it...some days are just easier than others...

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 boy...my 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 stories...it 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!!!"...so 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 anything...my 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....

Monday, March 29, 2010

Gianna and Her Baby Brother's Chair

I forgot to mention that Gianna thinks the wheelchair is pretty cool too. She did sit in it the day it came but she really doesnt seem jealous of it or anything. I prepped her for awhile before it came...telling her that he was getting it because he has a little bit of trouble with his muscles and we need to help him sit up and get around. Ironically in the morning, before the chair came, we were watching a show that had a little boy in a wheelchair. He was older and Gianna asked me when he was going to learn to walk. I told her that some people don't learn to walk and they use wheelchairs to get around. She was very curious about this! I told her that the chair was similar to the one Anthony was going to be getting. I said that he has some trouble with his muscles and we hope someday he'll learn to walk, but if he doesn't then that's ok too and we will just wheel him around or he will learn to wheel himself!

A technician came to deliver the chair and was here for quite awhile setting it up. Anthony's Physical Therapist and I were in front of our sofa working with Anthony and Gianna was leaning over the back of the couch watching the tech. Suddenly I heard her softly say, "I have trouble with my muscles too!" I don't think he heard her but MAN, it took all I had not to start to cry...how sweet and innocent and just PRECIOUS! We've been making sure to give her lots of TLC and special attention...she's is one of a kind that kiddo...LOVE her to PIECES!!!

Anthony's New Ride, Chair and Desk!

Last Tuesday Anthony recieved his "Kid Kart"...basically it is a pediatric wheelchair. Because Anthony is not able to sit up, it is very difficult for him to have supported seating for everything from feeding to getting around.

Back in December we met his amazing Physiatrist, Dr. Nimec, a doctor who specializes in physical medicine and rehabilitation. She will primarily assist with tone management, movement control, equipment, and physical therapy recommendations. She has work extensively with kids like Anthony for many years and she really knows her stuff! At the time of this consult, she prescribed Anthony with outpatient PT, a feeding evaluation (because feeding is so closely link to his tone issues), the Kid Kart, and a prone stander (which will assist him in remaining in a standing position for two hours per day....I will write more about this when he gets it in a couple of weeks.)

So far the Kid Kart has been amazing. It's so wonderful to see him sitting so comfortably and supported. On Wednesday he went outside in it for the first time and I so wish I had recorded him...I wheeled him through the parking lot of N.Shore Children's for Physical Therapy and he was squeeling and laughing the whole way. It was like a whole new experience for him. I'm sure he could probably see so much better, but his physical therapists also explained to me that in the past he has had to spend so much energy and consentration on holding himself up...and know he doesn't have to do that!

It has been a bit difficult lately to carry him around everywhere...and wheel him in a traditional stroller that is really not comfortable for him. I was finding it hard to feed him while outside of the house because he wasnt in a good postion for eating. The weekend before we got the chair we went out to lunch and tried to put him in a restaurant high chair...disaster! He was slouching down and falling over...the poor guy! Picture me...stuffing our sweatshirts all around him...trying to give him more support! Then finally we just held him and took turns eating one handed. Parents...we've all been there before with our newborns...and he's getting big and active! So needless to say, it came at a great time. Rather than me feeling gloomy about my son needing a wheelchair...I was excited for it to come and what a blessing its been!!

Also, today he recieved a corner chair (with all kids of velcro staps to support him upright) and a desk from Perkin's School for the Blind. I will attach a pic...its so cute! I had no idea that they were going to decorate it. It's so boyish...all blue with the "Cars" characters hand-painted on it. Adorable! And if I do say so myself...he looks so stinkin cute sitting there, all proud of himself. It's so wonderful that he has so many resources available to him...I have to imagine there were many trailblazing parents and kiddos ahead of us that made all this possible and for that I feel truly blessed!

"High Muscle Tone"

So one of Anthony's most challenging issues is muscle tone and movement control. His muscle tone is high "hypertonia". I have a great article on what "muscle tone" is that I am going to try to post for those interested, but here is a summary:

"True muscle tone is the inherent ability of the muscle to respond to a stretch. For example, if you quickly straighten the flexed elbow of an unsuspecting child with normal tone, the biceps will quickly contract in response (automatic protection against possible injury). When the perceived danger has passed, which the brain figures out really quickly once the stimulus is removed, the muscle then relaxes, and returns to its normal resting state.

The child with high tone or "spasticity" has over-reactive response to the same stimulus. When his arm is stretched, the biceps tightens at an even more rapid rate, and the rate of recovery is much slower, even after the stimulus is removed. Full relaxation is difficult to achieve, so the muscle stays taut for an extended period of time. Because this child's muscles never truly rest unless he is asleep, the long term result is tighter, shorter muscles with reduced joint range.

A child's unique neurological wiring determines whether he will be low, high, or normal toned. Most people have "Normal Tone". A delay in perception, decoding, or transmission anywhere along the neural pathways will result in a change from an optimal response, or "normal" tone."

Wednesday, March 24, 2010

Busy Boy!!

To give you an idea of what a busy little boy Anthony is, I wanted to share with you the therapies he recieves and the doctor's he currently sees!

Early Intervention 3x weekly:
Devlopmental Specialist, Physical Therapist, Occupatinal Therapist (Feeding)

Vision Teacher from Perkins: Bi-weekly

Outpatient PT: 1x weekly

Pediatrition- Bi-weekly weight and head circumference checks

Neurologist, Geneticist, GI, Opthamologist, Orthopedist, Nutritionist, Physiatrist (pediatric rehab), Augmentative Communication Clinic (to start in June)

Anthony Jr's Symptoms

To give you a better understanding of Anthony's challenges, I'm going to just list the majority of his symtoms:

Microcephaly (a head circumference greater than 3 standard deviations below the norm, Anthony's is -4 but still growing!!)

Vision Issues (low vision, strabismis, nystagmis)

High Muscle Tone "Hypertonia"

GI/Feeding Issues (Reflux, moves tongue primarily front to back, difficulty swallowing foods other than purees...but learning more everyday!!)

Global Devlopmental Delays (delays in all areas of development)


At 4.5 months Anthony had an MRI, EEG and mirco-array analysis (genetic testing.) The EEG was, as our neurologist put it "not totally normal", though not definatively abnormal or anything to require treatment. His MRI at that time was normal, with the exception of some slight "ventrical dysmorphism", which we were told was not particularly concerning or did not lead them in any direction diagnostically. The mirco-array analysis was also normal...and that tested for something like 70ish different genetic and chromosonal abnormalities. People always have a hard time with these tests coming back normal...they either say "what do you mean they don't know what it is?" or they say "well that's great! everything has come back normal! He will be fine!" I brought this up with our neurologist to see if he had any tips for how to deal with this. He literally told us to tell people when it comes to the brain they, as doctors, are "stupid"! They have barely just scratched the surface of knowing all there is to know about the brain. And the same goes for genetics, they have come a long way but they are NOT EVEN CLOSE to knowing alot. He said there are probably millions of genetic disorders that are yet to be discovered. They are still trying to figure out the cause of Anthony's issues (Dr. Duplessis refers to him as a "diagnostic dillema") but when his tests come back normal its not because he is fine and will "grow out" of anything. I mean, he will "BE FINE" because no matter what he is loved, and happy, and amazing but he will struggle through challeges for the long haul.

He most recently had a round of testing that did give the doctors some additional info. His MRI on February 25th came back abnormal. Anthony's white brain matter is underdevolped. This is a clue that has now led to more tests. At the time of the MRI, they took a skin biopsy. They are now growing cells from that biopsy and testing for some things that may explain this MRI result. The neurologist did caution us that these tests may come back negative which would bring us back to square one but that results take about 4-6 weeks so only time will tell.

Anthony Jr.- The Beginning

I'm am not sure, but I sense that there are many friends and family out there that have questions about what we have gone through/ are going through with Anthony Jr over the past year. The truth is, we still have so many questions left unanswered but I want my friends and family to know that if I can answer a question, I would be happy to! Here is a snapshot of what has gone on since our journey began...

At Anthony's 2 month check up the pediatrician (not ours, but someone filling in that day) asked me the generic questions they always do. When she got to the question about whether Anthony was smiling, I said that he was but that it took real effort to get him to smile and he was only doing it about once a day. Then she asked me is he was cooing and I said that he really wasn't. She responded, "is he a little?" I felt uncomfortable and nervous...thought maybe I was missing something...so I responded "I guess..." It was then that I started to have a whisper of concern. Around the same time, I began to see pictures and videos on some people's Facebook pages who ironically had babies within 2 weeks or so as I did. One is particular was a video of a baby who was playing under her gym mat...kicking, squealing, babbling. I looked at Anthony Sr. in a slight panic. Our baby wasn't doing any of that. This particular baby seemed advanced (as our Gianna was!) but he was even close to this.

I stored my worry away...my mother-in-law sadly passed away so it was easy to do. While we were in Florida for the arrangements, he cried constantly, continued to have feeding issues (he had had them pretty much since birth), and was "tongue thrusting" habitually. I thought he was just a bit fussy, maybe teething...our family thought he was colicky. My pediatric nurse practitioner sister-in-law had a feeling it was something more and gave me some subtle advice to speak to the pediatrician when we returned home.

At the three month check up we voiced my concerns to our pediatrician. I told him he wasn't smiling much, making any noises, or visualy tracking. He said that with such a wide range of what's "typical" for a 3-month old he wasn't overly concerned. Then he looked at Anthony's head and said it looked a bit small so he wanted to measure it. It measured very small. He decided to refer us to an infant neurologist for a "screening".

Thanks to my wonderful sister-in-law and her connections...we were able to schedule an appointment within a couple of weeks. She was also sweet enough to accompany me to that meeting. We met with Dr. Andre Duplessis on April 22, 2009. At that appointment it was confirmed that there was "definatley something going on" with my baby boy. Dr. Duplessis noticed that Anthony muscle tone was increased, along with his other symptoms. He told me that he would do whatever it took to get to the bottom of the situation and that no matter the road that lie ahead, he would be right there walking it with me. What equally comforting yet haunting words for a mother to hear. I walked out of that appointment knowing that whatever we were dealing with, it wasn't something that he was going to "grow out of". Many challenging days were ahead of us....

Here it goes!

So I've been meaning to start this blog for quite some time now but have yet to get around to actually doing it. Who knows, maybe it was all the appointments, the holidays, the marathon/fundraising, the packing, the move, the unpacking or the illnesses...whatever, I am here now!

I thought about doing a blog mainly as a way to keep our friends and family informed about Anthony Jr's progress...but also to be able to have a place that I can document it as well. Especially since I have been a total slacker with the traditional "baby book" this time around. (I'm not sure I can ever show anyone Gianna's now...filled with every little detial, tiny writing so I could fit it all in!!) I would also like to share other happenings in our family life! So here goes!!