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 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 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 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!!