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How is Ava?

Ava - Denim Chair

 

 

Health

Overall and so far, Ava is very healthy for an individual with Williams Syndrome (fingers always crossed). She was born with a heart murmur that was discovered at her 2 month checkup. After seeing a Cardiologist, we realized that Ava had (3) minor issues with her heart (congenital heart defects, or CHDs they call them).  My whole family has heart murmurs so I didn't think anything of it.  In fact, I was SO not bothered by it, that I don't even remember the names of the CHDs that she had!  All I know is that on her next checkup, the Cardiologist stated that she had already outgrown two of them, and the remaining issue called:  "Pulmonary Valve Stenosis" was "mild and within normal limits; no restrictions." That's a big deal and we definitley celebrated!  In fact, 75% of those with Williams Syndrome have severe CHDs.  Ava is in the 25% that doesn't, and for that we are truly grateful.  But every time I utter those words, I quickly feel empathy for her brothers and sisters with Williams Syndrome that aren't as lucky.  My heart hurts for them - and the struggles that they overcome are immeasurable.  They truly are the definition of a "heart warrior!"


I sometimes feel that our good fortune with Ava's health, is a big reason why we are able to have this website, and do our part to help raise awareness and funds needed for our small community.  Many of our Williams Syndrome family members struggle with health issues upon health issues - and live in hospitals frequently.  Many are forced to quit their jobs in order to care for their child.  Many fly thousands of miles to see the very few "Williams Syndrome experts" there are in the Country - just so that they can learn how to best care for their child.  There are stories out there that I haven't even heard yet; ones that I'm sure are outside our societies' typical daily thinking.  Many of these kids, and their families, go through a LOT!

 

Therapies

Ava is in weekly, one hour Physical Therapy sessions at home.  She is a little bit behind developmentally, so we do all we can to help her learn.  Her PT Therapist, Tera, visits with her once a week and we are currently working on cruising, standing independently, and hopefully walking soon!  We are so happy we have Tera in our lives! 

 

We tried Music Therapy for a month and saw a lot of potential with it.  Ava loves music - as most with Williams Syndrome do.  But it's an out of pocket expense that isn't covered by health insurance, so for now we had to skip.  Unfortunately, but rightly so, it isn't cheap. This is why I'd like a percentage of my profits to help pay for therapies such as this - no therapy should ever be denied to a person in need.  For a condition that is said to learn through music, and be musically inclined, it's absurd to me that a therapy like this wouldn't be covered!  There are other special needs children that could benefit from this therapy as well; so I'm on a mission to help as many children as I can to get the therapies that they deserve!  For now, her Dada is taking up the guitar and she seems to like it a lot!  Plus, we do a Mommy and Me style class every week - and she has a blast in it as well!

 

Ava is also currently in recreational I.S.R. Swimming too!  It's a program that I LOVE! Why? It helped my older daughter Stella learn to float and swim BEFORE she could even WALK!  It's amazing to see little babies learn how to survive in water - how to roll onto their backs and float, and even swim under the water in small bursts until they get safely to the edge!  Being that we have a pool 10' from our back door - it's an absolute MUST that our kids become good swimmers!  So we believe that Ava will learn just like Stella, but on her own time - and we are excited to check this important milestone off her list someday.  

 

Diagnosis

We went through a lot to find Ava's diagnosis; in fact we went through a solid year of trying to figure her out.  At that same 2 Month Checkup (where the heart murmur was discovered), I also brought up Ava's "crooked" neck.  Her Pediatrician at the time thought it was Torticollis.  However, we've realized now that it isn't - or perhaps it is, but rather a rare version of it called Benign Paroxysmal Torticollis of Infancy.  I know, it sounds complicated, but basically; we still don't know 100% what it is!

 

To describe it, here is what Ava does.  She goes through periods of time (about 2 weeks long) where her neck looks crooked to the left, and then the next 2 weeks she'll appear to be straight.  And she flips back and forth from crooked to straight, for 2 weeks, every 2 weeks.  The Geneticist said that while it could be part of the "musculoskeletal issues" identified in those with Williams Syndrome, her exact issue didn't appear to be a documented symptom (she just keeps getting more and more rare, doesn't she?)  :)  

 

So for a year we tried to figure it out.  We went to a Chiropractor, a Neurologist, a Neurosurgeon (who even did X-Rays and an MRI on her spine and neck), an Ophthalmologist, and honestly, I forget what else.  Basically every type of Doctor that we could see, we went to!  The Genetics Doctor was the last Doctor to see, and Genetic Testing was the last Test we could do - in order to conclude that it was just this rare version of Torticollis I mentioned above.  We didn't have anything to sweat; so we thought...and confidently thought the Geneticist would come back, like all the other Doctors did, with an inconclusive report of no findings.  But as you know now, that wasn't our outcome - but it's okay - we're okay with it!

 

To conclude, let me just tell you - Ava is AMAZING!  She is the SWEETEST little girl on the planet, and we are beyond blessed that she is our daughter!  We already know that she is going to be the best teacher we've ever had in life - and for many others around her too!

 

Ava is petite, loving, and she's lately been growing into her Williams Syndrome facial features; which are a common characteristic.  She absolutely LOVES jewelry!  To the point that I can't even wear it because she simply goes crazy over it when I do!  She also loves stuffed animals (never saw someone love stuffed animals like her), and she's very much in love with her big sister Stella!  Which by the way, Stella absolutely ADORES her as well - and they are two peas in a pod - something that I hope will always be a fact!  

  

To learn more about Williams Syndrome - be sure to read about it HERE!  It's a long one, but a good one - so I thank you in advance for taking the time to read it!

 

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