What is Williams Syndrome?

This is taken directly from a wonderful website: http://www.williams-syndrome.org- please keep in mind- as Evan’s genetic counselor told us the day he was diagnosed-
“Every child will tell a different story, let Evan tell you his story.”

What is Williams Syndrome?

Williams syndrome is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.
 
Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees, for example working at senior homes and libraries or as store greeters or veterinary aides.

 
Just as important are opportunities for social interaction. As people with WS mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression.  They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.
Common features of Williams syndrome include:
Characteristic facial appearance 
Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), 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. Facial features become more apparent with age.
 
Heart and blood vessel problems 
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 stenos is 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). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
 
Hypercalcemia (elevated blood calcium levels) 
Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
 
Low birth-weight / slow weight gain 
Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is slightly smaller than average.
 
Feeding problems 
Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.
 
Irritability (colic during infancy) 
Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.
 
Dental abnormalities 
Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.
 
Kidney abnormalities 
There is a slightly increased frequency of problems with kidney structure and/or function.
 
Hernias 
Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
 
Hyperacusis (sensitive hearing) 
Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
 
Musculoskeletal problems 
Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.
 
Overly friendly (excessively social) personality 
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.
 
Developmental delay, learning disabilities and attention deficit disorder
Most people with Williams syndrome mild to severe learning disabilities and cognitive challenges. Young children with Williams syndrome often experience developmental delays.  Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.
Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.

Helpful Links

Links that I found helpful for parenting a child with Williams Syndrome and also some just for some good reading and introspection:

http://www.williams-syndrome.org/ – This is the go-to for all factual information about WS. Recommended by docs, parents, etc

http://understandingwilliamssyndrome.blogspot.com/ – This is fantastic blog written by a mom who just happens to be a brilliant biology teacher. I could learn a lot from her!

 http://momastery.com/blog/ – The author of this blog, Glennon, has been a literal God send to me as a mother. She manages to make me feel like she knows me somehow  Not only is she a thoughtful, highly intelligent woman, she is HYSTERICAL. and self deprecating which is awfully helpful.

http://thepickledbean.blogspot.com/–  This blog is written by the lovely Ashley, whom I have never met, but I hope to in the future! She has a GORGEOUS family, and her son and Evan could seriously be brothers- they look so much alike.  She writes from the heart and I feel like I am “home” reading her entries. And….she loves Big Brother and feels good about working outside of the home. Two things I am not scared to admit about myself. 🙂

About Erin

NYE 2012
Right??

Updated August 2013

Here is a good entry that tells a lot about me.

I’m Erin, the author of this here little blog. I started this blog with the intent of keeping track of my pregnancy. Then I decided to keep up with it as  Evan began to grow so we would have a place to keep all our memories.
But the blog turned into something more for me.  It turned into more than just a place to share. It turned into a place to process. A place to put things out there that I didn’t even realize needed “putting out there.” Since becoming a mother, I have relied much on those who have gone before me to help me along this rocky, beautiful path.  I can only pray that our stories, obstacles, triumphs, and laughs may shed some light into someone else’s darkness one day.

I feel a little silly doing an About Me section but I know that it is on the first things I read on a new blog so here goes: 

Evan’s birthday May 2013

  •  I’m 35 and I don’t really have any issues with it. I love birthdays, probably a little too much for someone my age. 
  • California-one of the most beautiful sights I have ever seen.
  •  I currently am a stay at home mom with my son, Evan.  I am going back to work soon and have conflicting feelings about it.  I taught for 11 years before going out on maternity leave with Evan.  I LOVE teaching. Being a teacher is part of who I am.  But of course, I am worried about how Evan will do with new caregivers.  (Um, let’s be honest, he’ll be fine. It’s me you have to worry about.)

  • I’m clumsy and have extremely weak ankles. I have been known to twist my ankle standing still. Not kidding. And in case you were wondering? Not fun.
  • My husband and I met on Match.Com.  I recall a day when you couldn’t admit that. But now it is not a big deal at all. Thank goodness we are over that stigma, people!
  • I’m a wedding singer. Let me know if you need an event singer (wedding, funeral, etc), I love doing it.
  • I think that counseling/therapy is a beautiful and necessary thing. I have said many times that I believe you should be able to give gift certificates for sessions. Who wouldn’t benefit from talking to someone about your life who is completely unbiased?? I wish there wasn’t such a stigma with it. There is no stigma to using the gym to improve your physical health, so why should there be one that involves improving your mental well being?
  •  I admit I have an issue with clutter. I make organized piles. I am really good at organizing these piles. 
  • If you get a second, learn all about Williams Syndrome and teach someone else about it too.  It’s really the only way to get awareness out there and continue to get more programming and supports available to individuals and their families. 
    Doing what I love.

Me and the Bug


Our Bug’s Story

Written on August 29th, 2012 for a feature on the awesome Pickled Bean.

We had spent about 4 months of dealing with up and down digestive issues with Evan that had affected his growth and concerned our pediatrician. He displayed aversion to food with any type of texture other than watery puree and could vomit up to 5 times a day, without any real pattern. Three days after Evan’s first birthday (May 30th) we went to a geneticist at the Children’s Hospital of Philadelphia and were told that our son has Williams Syndrome.
 In a word, we were blindsided. We had no idea that the issues we had been facing for the past 4 or 5 months of our little guy’s life were due to a genetic condition. I had been assuming all along that he had issues in his esophageal tract or that he might have some slight sensory issue but nothing major. He did not have the typical early detection of serious heart issues, in fact when it came up that we “might want look into genetic testing” as the pediatrician on the feeding team said in late May- the doctor even said she was 90% sure nothing would come of looking into it. Probably not the best thing to tell a parent. But she changed our lives that day in that little, cramped, stark white office. She questioned whether it had ever occurred to us that our son does not share our facial features. I literally felt like the wind had been knocked out of me. My father passed away a few months before we found out I was pregnant with Evan, and our son is a mini Bobby G, my Dad. He has the same droopy cheeks and big huge smile and personality. And I have clung to that fact very tightly. So hearing the doctor suggest that he does not look like us hurt more than she could know. A day later- she gave us the term, Williams Syndrome- which neither of us had heard of. I have been in special education for over 11 years and I have never encountered a student with this condition, nor had I read about it. So of course, after shakily entering the term into my keyboard and coming to the WSA page, my heart just sank. I remember not being able to focus on the information as a whole, I only could see certain words popping out at me, like, “low IQ, 75% have mental retardation, have successful jobs as greeters at grocery stores, need one-on-one aides, etc.”
 I remember collapsing into the recliner and calling my husband crying. Somehow he had already found the term online when typing in some of the issues we had run into and things that came up at the feeding clinic appointment. Both of us had trouble having the conversation and I just said that I thought his life expectancy was not different than a typically developing child. I hung up the phone and went up to Evan’s nursery and picked him up out of the crib where he had been fighting a nap for a little while. I held him and rocked him the recliner, which I had not done in quite some time because he doesn’t wake up over night much anymore. 
 And I lost my s***. 
I am not one to curse unnecessarily and I apologize for that, but I did. Plain and simple. I started wailing and could not stop. And the funniest thing happened (which now is so incredibly symbolic), Evan picked his head up off my shoulder and looked at me and started giggling uncontrollably. He thought my wailing like a banshee was laughter. And he thought it was was the perfect time to laugh right back! So he kept laughing and sucking in air and squealing. Of course I immediately smiled and felt my heart start to lift.

15 months in OBX

and that infectious laughter –
is really at the heart of our new story with our son. He is fine. He has a few less genes than the average child his age which makes him less likely to walk before 2, or be in a regular education class without assistance, or love to eat chicken nuggets and grilled cheese right now like his little toddler friends. But those missing genes have done nothing to his HUGE personality. He is
vibrant,
 curious, 
 funny,
 beautiful,
 empathetic, 
and just so very loving.
He has already taught us so much in 15 months, and I know he will continue to for as long as we are blessed to walk this earth alongside him. If I am being honest,  (which I know I appreciate)smile, of course I am still scared. Yes, I get angry sometimes when I think of how his future might be affected by WS. But the thing both my husband and I keep trying to remember is that we are far more worried about how his future looks to US. We are concerned over how his life is going to be different from what WE want for him. He is pretty darn happy with how things are going for him right now. Eating his sweet potatoes, chasing our choc lab mix around the house, climbing up the steps over and over no matter how winded it is making Mommy. I do wish people would stop saying they were sorry to hear about Evan’s diagnosis. This isn’t a sympathy card worthy circumstance in my book. I know when there is difficulty finding the right words to say, “I’m sorry,” might pop out. 
But please know, it’s really okay. We know there aren’t any magic words you can say that is going to make it all better. Because we don’t need it to be all better- Evan is our son, he is our reality, and although we didn’t expect it to include a genetic syndrome, it is okay that it does.
 So many very deserving, amazing people cannot have children or lose their children at a a young age. I had a miscarriage before Evan, I know how devastating that is.
Evan is here, in our lives,and as I keep repeating, he is more than okay, he is a rock star.
 And that is not me just blowing sunshine. That is me being a proud mama.
 I am so thankful for the community of parents I have “met” online and I truly wish I lived closer to everyone so we could all hang out and celebrate our awesome kids.
I also want to say thank you to our family and friends who are truly amazing. They lift us up with words, laughter, glasses of wine and beer, tears shed, and just by loving us.  Thank you to all of you.
xoxoxo

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