Today my son was clinically diagnosed with Williams Syndrome.
A few weeks ago my brother, a medical student, mentioned that Augie had textbook characteristics. I looked it up and was surprised. Not only by the facial features, but the personality traits. Primarily speech delays and super friendly, even to strangers.
From early on there have been things going on. A mother's instinct, you could say. The first month he was in our care we were at his Pediatrician four separate times. Dx: bronchiolitis and pre-asthmatic. He had these mini, mild (never-quite-diagnosed-as) seizures. Even today, I am not sure they were seizures...possibly temperature sensitivity (he wakes up cold and it takes him longer than usual to warm up, he is usually shivering during this time). His forehead also had an unusual attraction to concrete.
If you look closely at this picture, it has been Photoshopped...along with many others, to attempt to conceal the bruisey head in otherwise cute pictures.
We first met with a pediatric neurologist around his first birthday. One tight heel cord led to two MRIs which led to two diagnoses: 1. Possible Tethered Cord (this is a mild form of Spina Bifida....I think this was a 'CYA' dx on the part of the radiologist, I don't think he has this, but it will be monitored over time). 2. Chiari 1 Malformation (an incidental finding that we are blessed to know in the event of future problems).
Oh yeah...and as I mentioned before, speech delays. He was in weekly OT from 6-18 months old at which point he qualified out.
So, in a nutshell, we have been hot on the trail of whatever THIS was for a while now. The conversation with my brother was not a shocker. It will take about two weeks for a confirmation by way of the genetic test. But, as soon as we stepped into the geneticist's office, he was throwing out all these words and quickly confirmed the clinical diagnosis.
So, tonight, I read. I research. And the reality starts to sink in.
In my reading words like "mental retardation" and "adult day homes" stand out. As do "shorter life expectancy" and "lack of social boundaries". I am encouraged that he is highly functioning. As a whole, he is doing so well. He is a beautiful, amazing, sweet little boy. He is my heart. Tonight my heart hurts a little as I attempt to process what this means for his future. He has a 50% chance of passing this on to his children (though many WS adults don't have the ability for lasting relationships). That is one of a long list of what may lay ahead for an adult with WS.
So many random things are running through my head.
- I am grateful for the show Parenthood and processing the idea of life with a a special needs child.
- God intended us to be parents to special needs kids, before we even met Catie.
- I am glad I enrolled Rosie in pre-K to have some time to focus on the needs (and OT appointments) for the babies this upcoming year.
- I am grateful for a Catholic special needs school very near by, and that adoption subsidies would likely cover any cost involved.
I am sad. I want to cry. This will impact our future...and certainly, obviously his. I know there is undiscovered joy and greater meaning that will be revealed over time. For now...we are processing.
8 comments:
Of course we are very touched and sad about this but..in everything there is a purpose under Heaven. We love that little boy so much and he is blessed to have a mom like you and a dad like Paul. Miracles happen every day and he has so much nurturing and stimulation-he will do well . We are here to support and love you and yours unconditionally and we have no way of knowing what direction this will take. We know he is in the best "hands" with excellent health care and love. As a mom I feel what you must be going through-cry it out and then TRUST. Mom L
Your mom's comment is so sweet and so true. He is the luckiest little boy on earth to have you care for and love him through all of this.
Kids are so resilient and he is just cute as a button! Hugs and prayers.
That's so amazing that your brother was able to put it all together. Sometimes it can take years for doctors to come up with the right diagnose. I have a Chiari 1 Malformation and I didn't find out until I was 20.
He is just the cutest little boy ever! I love his hair. He is in good hands and blessed to have you.
SO sad to hear that he has this, but as your blog title so rightly describes his life...he is both blessed and broken! BLESSED above all to have you as his loving family.
I worry so much about the possible medical complications for Isaiah. I have not blogged much about it, but we have been at the dr office more in his little short life for him than we have for Isabella in her 21 months. I try to take every day at a time, and I have actually NEVER googled any of his medical complications to see if they are symptoms of a greater picture. We will deal with that when the time comes...praying that it doesn't. I trust our doctor to not sugar coat anything. She has been with us from day one...and is an adoptive mom herself.
I NEVER thought I would adopt a special needs child because I am too selfish to want less than a "perfect family". God knew Isaiah was our son from eternity and HE prepared the situation so that I would fall in love with him before knowing he would be born with special needs. Once a child is yours, you don't hesitate to love the child, even if they need a little extra care in their lives...especially if they need a little extra care in their lives. God is stretching me right now and I know He is stretching your family too. I pray that He will bless you with His grace every day!
Lots of tears as this is sinking in.
Thanks for all your kind words.
Julie...to clarify, Catie was neonatally addicted. I know she is going to have learning disabilities and troubles to come. Augie was a surprise. Though typing this all out, troubles were always present. Trust your mother's instinct. Now I am thinking of a life with two Special Needs and at this moment it is a bit overwhelming. I know God's grace will be sufficient.
Cousin Beth,
One of my favorite professors at BC is a documentary filmmaker and back in the mid-2000s he made a film series called, 'I'm In Here!' for PBS that profiled a number of young people with different disabilities in hopes that it would help to increase public consciousness about their disabilities as well as show in all of the cases how despite the fact that they weren't 'normal' by societal standards they were happy and well-adjusted people because they had found their own versions of normalcy.
Though all of the episodes he did were excellent, one of the most memorable for me was the one called, "Andrea: A True Gem" which followed a 27-year old woman (Andrea) who had been diagnosed with Williams Syndrome when she was a young girl.
I had never heard of Williams Syndrome before I watched the documentary and I really found it to be both comprehensive and illuminating on the subject especially with the woman that they profiled being so charismatic, interesting, and engaging.
She had found her niche after years of struggle with her diagnosis at Camphill, a therapeutic residental community in upstate New York. It was really interesting to follow her story and her life at the residence.
I don't know if you are interested at all but I'd be definitely willing to reach out to my professor and see if I can get a copy of the film and send it to you. I couldn't find anything for it online, etc.
Let me know! My thoughts are with you during this hard time.
Cousin Arielle
Oh, E. My heart is with you and P. I am sure you have so many emotions running around your heart, but please know that God will give you all the grace that is needed to perservere.
A good friend of yours Karin Donato referred me to your blog. My son Cooper was just diagnosed with Williams Syndrome he will be 2 in June. We just started blogging about our journey. I was so touched by your experience. Please follow my blog and let’s stay in touch for support www.thepickledbean.com
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