I like...

There's not a lot Max doesn't like, besides being told "No" like most kids.

I thought it would be funny to share some of these, in no particular order - here's a snapshot of his personality;

Max likes...

OPENING DOORS
Likes the attention!
Teddy, our cat, and it's his favorite word.
To bounce,
Hugging,
Pulling his socks off,
Using his feet,
TURNING PAGES of books.
Twinkle twinkle little star,
Banging on his toy piano,
The telephone,
Mum's computer,
Taking things out and putting things in,
Being outside,
Green beans,
Figuring out how to escape beyond the fencing,
Taking food out of his mouth, looking at it, and putting it back in,
Dropping food from his highchair for Teddy,
His Animal farmhouse toy,
Sesame Street
& MUSIC
Elmo,
Yo Gabba Gabba,
Signing "more",
Hide and seek,
The shower,
Balloons,
Prune Juice,
Milk,
Watching us cook dinner,
Peaches,
Squeezing his brothers arm & hand,
Biting, ... at the moment,
and lastly, he loves to sleep!

Milestones

Born April 19,2010

I had a pretty healthy pregnancy with Max, despite a kidney stone around the 31st week. I had eaten too much calcium and the build up caused the stone. I was 9 days over my due date and was scheduled to be induced. During labor, Max's heart rate was fluctuating up and down so I was rushed to have an Emergency C Section. It was a very scary experience but all was well. He weighed 6llbs 6oz, not quite full term they said, maybe around 36 weeks or so? he was very wrinkly and covered in thick vernix. The low birth weight was probably from the Williams. He had a moderate level of jaundice by the 4th day and was sent home with a belly blanket. He had no trouble feeding/nursing but suffered with a lot of reflux and very colicky. He slept like a log at night, I had him co-sleep with me for the first 6 months. Because of the reflux, he didn't like to be on his belly and lift his head too much, crawling came late too, around 12 months. Max was diagnosed with WS by the FISH test in July, (at 15 months) so we were proactive and contacted Early Intervention/Physical Therapy and Max is walking around today, at 18 months. That was our Goal!        

                                                                                                

A couple weeks old

3 months



6 months

9 months

1 Year!

16 months

18 months 



What is Williams Syndrome?

Williams syndrome is a rare genetic condition (estimated to occur in 1/10,000 births) which causes medical and developmental problems. Williams syndrome was first recognized as a distinct entity in 1961. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. Williams syndrome is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin.

Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris.

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenosis SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect).

Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.

(adapted from the Williams Syndrome Association website)

The Beginning

Like yesterday, I will never forget the 3 month well visit to the pediatrician's office, with a head full of questions about our concerns with vaccinations. She examined Max top to bottom, ear to ear and eye to eye then she listened to his heart and told me she could hear a faint murmur. My concerns about vaccines dropped to the bottom of the my list. She reassured me that sometimes baby's are born with little holes, or have valve abnormalities in the heart and the murmur could be nothing to worry about. She referred us to Cardiology to get it checked out. This was the beginning of our Journey with Max and learning of Williams Syndrome.

Max was diagnosed with Williams in July of this year, when he was 15 months old. After follow-up at Cardiology, they did a local testing/ultrasound type exam and they told us it was a valve issue and to visit again in 6 months at Nemours where they could do a thorough echo exam. The results of his heart condition was mild and follow-up again in 6 months. Both me and my Husband were positively optimistic things were OK. The next Nemours echo visit, in May, I was by myself with Max and I was able to get him to go to sleep without them sedating him. They were able to get a good look and get accurate readings. Being I was 4 months pregnant, I was emotional as is, thinking positively everything was good and his heart condition still mild the Cardiologist told me what she suspected was a valve problem is an Supravalvular Aortic stenosis and the condition is connected to Williams Syndrome? To any mother who is told there is something wrong with their baby, your heart melts. She did her best to explain it and draw a picture, being new to the news, naturally, I was in denial and thought "it can be fixed and everything will be OK" Leaving the Hospital room that day, the sincere, heartfelt look and hug the Cardiologist gave me, I now know why she did...