It is without a doubt one of the best decisions we made - to go to the WSA convention this past summer. That decision led to us sitting in on one of Dr. Morris' lectures on the ABCs of WS and where kids should fall in their development. Brady has always been behind the WS kids his age and we just assumed he was on the other end of the spectrum. But when asked, Dr. Morris suggested we look into having the chromosomal micro array testing - where basically all chromosomes are looked at, not just chromosome 7 which is owned by WS.
That decision led to our appointment with Dr. Pober, WS geneticist expert extraordinaire, who examined the boy. She acknowledged his consistent progress, albeit slow; his good health, and our good attitudes. Then she ordered the tests.
Two weeks later, we have been hit.
The micro array showed Brady has a larger deletion than his WS counterparts, it extends beyond chromosome 7 and includes additional genes. There is also a second change in another location down by chromosome 11, where part of the chromosome is missing but no genes are missing. The typical deletion for WS is a loss of 26-28 genes. Brady's micro array showed he is missing an additional 75, a total of 100 genes missing.
More genes missing means there will be more interference with normal growth and development. Dr. Pober said she needs to research the genes missing since they didn't know how they contributed to a person, and they may not even be able to find out what each one does. The idea is to follow medically anything that they could help with, but that is about it.
For example, she did note that one particular gene they knew that was missing would put Brady at a higher risk of seizures. Seizures that went untreated would cause a person not to learn as well. While we have never witnessed Brady having a seizure, she is setting up a consult with a pediatric neurologist for a brain scan. The "autism 2" gene is also missing, but Dr. Pober discounted that he had autism. She felt it was more of an association that he didn't have that one particular gene.
The second tiny chain of missing chromosome was down by chromosome 11, where no genes were missing. She felt it was likely irrelevant and thought it was a more of a "fingerprint" of his DNA and wanted Tom and I to give bloodwork to see if it was hereditary. We will visit with Dr. Pober in about four to six weeks once they have done more research on the missing genes.
I am typing this watching Brady... he was sitting in the middle of the floor, pulled himself up independently, walked to me and peered over the table to see the computer monitor. Uninterested, he turned, walked into the living room to the coffee table, grabbed a couple Fruit Loops, climbed on top of the table, ate them, got off the table and walked back into the kitchen to check out the CD playing ("Almost Famous" soundtrack, incidentally, fabulous). I smile.
How far he has come... yet now I know for sure he is 100 genes less. So easy to slip into that black hole cycle... but how can I possibly, seeing his progress? Seeing his quirky smile, upon which I am reminded all the time it took 14 months to get, yet is here all day now? Just another deep breath, I am sure this is not the last of news I don't want to hear. But the news I do enjoy getting, I am reminded daily.
Friday, September 03, 2010
Monday, September 14, 2009
Back to School
Back to school time... and we've got a brand new schedule here. Brady is going every day but Wednesday, full days, plus taking the bus! We're only on Week Two of this, but it has been a huge blessing. They also plan on phasing in Wednesday mornings and eventually bringing him in all day Wednesday by the end of the year. He only has one more year of preschool after this one, then he will be moving on to kindergarten.Brady spends half the day in the classroom, the other half in the Learning Center, where they work on ABA type therapies and other therapies needed for his development. He is doing fabulous, not being completely wiped out all day, but coming home eating huge amounts of snacks and crashing by 8.
The school has noticed huge strides in his abilities. I see it everyday, just in his interest level and his thirst for being on the move, climbing, exploring... who knew how bored he was before??
We went to an Augmentative Communication Clinic last week -- this is our third time going and I love the info we receive there. They try different modes of communication, from pictures to switches to computer programs. I get a very detailed recommendation packet from them upon which I will go over with the preschool. Some of the items -- switches PEC system -- the school already uses. They are very excited to hear about the suggestions and always find ways to incorporate them into his schooling.
Tuesday, August 25, 2009
Summer days 2009
It seems like we have a new child who lives with us. Who would have thought that a little open heart surgery would bring out this energetic, seemingly understanding our words, jokester. But it has happened - every day we are marvelled at Brady's new found freedom on getting about the house, eating more and interesting foods, and cracking himself and us over little sideways looks and get-away tactics. And that is what, in a nutshell, we've been doing this summer.
Summer at the preschool was fabulous - Brady bonded with everyone, but most especially with the director's son who took it upon himself to be Brady's best buddy as his teacher. Every morning there would be water play before the kids would move inside for snack, but outside was definitely Brady's favorite time. A water-baby he certainly is, as has been tested all this week since we've been on vacation in Maine. Even now, we are heading out to the beach and water park, which is only a concrete slab of spritzers and sprayers, but where we spent over an hour as Brady led us around from one spray to the next, dousing his head under the showers.
Yes, led us - we are working more and more actively on walking --holding two hands, holding one hand-- as he tries to balance himself. His biggest obstacle is that he is trying to walk so quickly he is off-kilter and looks like a drunk at two in the morning. Using the walker he zooms by so fast he doesn't have to worry about that. But now, although he realizes how advantageous it is to walk unassisted, he is realizing he might have to slow down. Even though the boy doesn't talk, be assured I know he is none to pleased about that.
We are excited to be starting school in another week. Brady will be going four long days AND take the bus... oh my! We're even more excited that his WS friend Lucien will be in his class - how can we get any luckier than that?? We have always been blessed to have so many friends in the area, including his friends Coleman and Clare only a hop-skip-and-a-jump away, but to actually have them go to school together will be terrific.
The little man is climbing on the back of the couch to the air conditioner right now... time to get going to the beach....
Summer at the preschool was fabulous - Brady bonded with everyone, but most especially with the director's son who took it upon himself to be Brady's best buddy as his teacher. Every morning there would be water play before the kids would move inside for snack, but outside was definitely Brady's favorite time. A water-baby he certainly is, as has been tested all this week since we've been on vacation in Maine. Even now, we are heading out to the beach and water park, which is only a concrete slab of spritzers and sprayers, but where we spent over an hour as Brady led us around from one spray to the next, dousing his head under the showers.
Yes, led us - we are working more and more actively on walking --holding two hands, holding one hand-- as he tries to balance himself. His biggest obstacle is that he is trying to walk so quickly he is off-kilter and looks like a drunk at two in the morning. Using the walker he zooms by so fast he doesn't have to worry about that. But now, although he realizes how advantageous it is to walk unassisted, he is realizing he might have to slow down. Even though the boy doesn't talk, be assured I know he is none to pleased about that.
We are excited to be starting school in another week. Brady will be going four long days AND take the bus... oh my! We're even more excited that his WS friend Lucien will be in his class - how can we get any luckier than that?? We have always been blessed to have so many friends in the area, including his friends Coleman and Clare only a hop-skip-and-a-jump away, but to actually have them go to school together will be terrific.
The little man is climbing on the back of the couch to the air conditioner right now... time to get going to the beach....
Sunday, May 03, 2009
Welcome to the Club
I will post Brady's Walk photos and results in a few days, along with a little speech I said at the After Party.
In the meantime, I wanted to post an amazing letter a fellow WS mommy and dear friend Laura recently wrote. This is how it is.
My dear friend, I am so sorry for your pain.
Don’t worry; no one else sees it, I promise. To the rest of the world, you’re fine. But when you’ve been there, you can’t miss it.
I see it in your eyes. That awful, combustible mixture of heart-wrenching pain and abject fear. God, I remember the fear.
I see it in the weight of that invisible cloak that you wear. I remember the coarseness of its fabric on my skin. Like raw wool in the middle of the desert. You see, it was mine for a time.
I never would have wanted to pass it on to you, my love. I remember so well suffocating under the weight of it, struggling for breath, fighting to throw it off while wrapping myself in its awful warmth, clutching its worn edges for dear life.
I know that it feels like it’s permanent, fixed. But one day down the line you will wake up and find that you’ve left it next to the bed. Eventually, you’ll hang it in the closet. You’ll visit it now and then. You’ll try it on for size. You’ll run your fingers over the fabric and remember when you lived in it, when it was constant, when you couldn’t take it off and leave it behind. But soon days will go by before you wear it again, then weeks, then months.
I know you are staring down what looks an impossibly steep learning curve. I know it looks like an immovable mountain. It is not. I know you don’t believe me, but step by step you will climb until suddenly, without warning, you will look down. You will see how far you’ve come. You’ll breathe. I promise. You might even be able to take in the view.
You will doubt yourself. You won’t trust your instincts right away. You will be afraid that you don’t have the capacity to be what your baby will need you to be. Worse, you’ll think that you don’t even know what she needs you to be. You do. I promise. You will.
When you became a mother, you held that tiny baby girl in your arms and in an instant, she filled your heart. You were overwhelmed with love. The kind of love you never expected. The kind that knocks the wind out of you. The kind of all encompassing love that you think couldn’t possibly leave room for any other. But it did.
When your son was born, you looked into those big eyes and he crawled right into your heart. He made room for himself, didn’t he? He carved out a space all his own. Suddenly your heart was just bigger. And then again when your youngest was born. She made herself right at home there too.
That’s how it happens. When you need capacity you find it. Your heart expands. It just does. It’s elastic. I promise.You are so much stronger than you think you are. Trust me. I know you. Hell, I am you.
You will find people in your life who get it and some that don’t. You’ll find some that want to get it and some that never will. You’ll find a closeness with people you never thought you had anything in common with. You’ll find comfort and relief with friends who speak your new language. You’ll find your village.
You’ll change. One day you’ll notice a shift. You’ll realize that certain words have dropped out of your lexicon. The ones you hadn’t ever thought could be hurtful ...Dude, that's retarded... Never again. You won’t laugh at vulnerability. You’ll see the world through a lens of sensitivity. The people around you will notice. You’ll change them too.
You will learn to ask for help. You’ll have to. It won’t be easy. You’ll forget sometimes. Life will remind you.
You will read more than you can process. You’ll buy books that you can’t handle reading. You’ll feel guilty that they’re sitting by the side of the bed unopened. Take small bites. The information isn’t going anywhere. Let your heart heal. It will. Breathe. You can.
You will blame yourself. You’ll think you missed signs you should have seen. You’ll be convinced that you should have known. That you should have somehow gotten help earlier. You couldn’t have known. Don’t let yourself live there for long.
You will dig deep and find reserves of energy you never would have believed you had. You will run on adrenaline and crash into dreamless sleep. But you will come through it. I swear, you will. You will find a rhythm.
You will neglect yourself. You will suddenly realize that you haven’t stopped moving. You’ve missed the gym. You’ve taken care of everyone but you. You will forget how important it is to take care of yourself. Listen to me. If you hear nothing else, hear this. You MUST take care of yourself. You are no use to anyone unless you are healthy. I mean that holistically, my friend. HEALTHY. Nourished, rested, soul-fed. Your children deserve that example.
A friend will force you to take a walk. You will go outside. You will look at the sky. Follow the clouds upward. Try to find where they end. You’ll need that. You’ll need the air. You’ll need to remember how small we all really are.
You will question your faith. Or find it. Maybe both.You will never, ever take progress for granted. Every milestone met, no matter what the timing, will be cause for celebration. Every baby step will be a quantum leap. You will find the people who understand that. You will revel in their support and love and shared excitement.
You will encounter people who care for your child in ways that restore your faith in humanity. You will cherish the teachers and therapists and caregivers who see past your child’s challenges and who truly understand her strengths. They will feel like family.
You will examine and re-examine every one of your own insecurities. You will recognize some of your child’s challenges as your own. You will get to know yourself as you get to know your child. You will look to the tools you have used to mitigate your own challenges. You will share them. You will both be better for it.
You will come to understand that there are gifts in all of this. Tolerance, compassion, understanding. Precious, life altering gifts.You will worry about your other children. You will feel like you’re not giving them enough time. You will find the time. Yes, you will. No, really. You will. You will discover that the time that means something to them is not big. It’s not a trip to the circus. It doesn’t involve planning. It’s free. You will forget the dog and pony shows. Instead, you will find fifteen minutes before bed. You will close the door. You will sit on the floor. You’ll play Barbies with your daughter or Legos with your son (or vice versa). You’ll talk. You’ll listen. You’ll listen some more. You’ll start to believe they’ll be OK. And they will. You will be a better parent for all of it.
You will find the tools that you need. You will take bits and pieces of different theories and practices. You’ll talk to parents and doctors and therapists. You’ll take something from each of them. You’ll even find value in those you don’t agree with at all. Sometimes the most. From the scraps that you gather, you will start to build your child’s quilt. A little of this, a little of that, a lot of love.
You will speak hesitantly at first, but you’ll find your voice. You will come to see that no one knows your child better than you do. You will respectfully listen to the experts in each field. You will value their experience and their knowledge. But you will ultimately remember that while they are the experts in science, you are the expert in your child.
You will think you can’t handle it. You will be wrong.
This is not an easy road, but its rewards are tremendous. It’s joys are the very sweetest of life’s nectar. You will drink them in and taste and smell and feel every last drop of them.
You will be OK.
You will help your sweet child be far better than OK. You will show them boundless love. They will know that they are accepted and cherished and celebrated for every last morsel of who they are. They will know that their Mama is there at every turn. They will believe in themselves as you believe in them. They will astound you. Over and over and over again. They will teach you far more than you teach them. They will fly.
You will be OK.
And I will be here for you. Every step of the way.
With much love....
In the meantime, I wanted to post an amazing letter a fellow WS mommy and dear friend Laura recently wrote. This is how it is.
My dear friend, I am so sorry for your pain.
Don’t worry; no one else sees it, I promise. To the rest of the world, you’re fine. But when you’ve been there, you can’t miss it.
I see it in your eyes. That awful, combustible mixture of heart-wrenching pain and abject fear. God, I remember the fear.
I see it in the weight of that invisible cloak that you wear. I remember the coarseness of its fabric on my skin. Like raw wool in the middle of the desert. You see, it was mine for a time.
I never would have wanted to pass it on to you, my love. I remember so well suffocating under the weight of it, struggling for breath, fighting to throw it off while wrapping myself in its awful warmth, clutching its worn edges for dear life.
I know that it feels like it’s permanent, fixed. But one day down the line you will wake up and find that you’ve left it next to the bed. Eventually, you’ll hang it in the closet. You’ll visit it now and then. You’ll try it on for size. You’ll run your fingers over the fabric and remember when you lived in it, when it was constant, when you couldn’t take it off and leave it behind. But soon days will go by before you wear it again, then weeks, then months.
I know you are staring down what looks an impossibly steep learning curve. I know it looks like an immovable mountain. It is not. I know you don’t believe me, but step by step you will climb until suddenly, without warning, you will look down. You will see how far you’ve come. You’ll breathe. I promise. You might even be able to take in the view.
You will doubt yourself. You won’t trust your instincts right away. You will be afraid that you don’t have the capacity to be what your baby will need you to be. Worse, you’ll think that you don’t even know what she needs you to be. You do. I promise. You will.
When you became a mother, you held that tiny baby girl in your arms and in an instant, she filled your heart. You were overwhelmed with love. The kind of love you never expected. The kind that knocks the wind out of you. The kind of all encompassing love that you think couldn’t possibly leave room for any other. But it did.
When your son was born, you looked into those big eyes and he crawled right into your heart. He made room for himself, didn’t he? He carved out a space all his own. Suddenly your heart was just bigger. And then again when your youngest was born. She made herself right at home there too.
That’s how it happens. When you need capacity you find it. Your heart expands. It just does. It’s elastic. I promise.You are so much stronger than you think you are. Trust me. I know you. Hell, I am you.
You will find people in your life who get it and some that don’t. You’ll find some that want to get it and some that never will. You’ll find a closeness with people you never thought you had anything in common with. You’ll find comfort and relief with friends who speak your new language. You’ll find your village.
You’ll change. One day you’ll notice a shift. You’ll realize that certain words have dropped out of your lexicon. The ones you hadn’t ever thought could be hurtful ...Dude, that's retarded... Never again. You won’t laugh at vulnerability. You’ll see the world through a lens of sensitivity. The people around you will notice. You’ll change them too.
You will learn to ask for help. You’ll have to. It won’t be easy. You’ll forget sometimes. Life will remind you.
You will read more than you can process. You’ll buy books that you can’t handle reading. You’ll feel guilty that they’re sitting by the side of the bed unopened. Take small bites. The information isn’t going anywhere. Let your heart heal. It will. Breathe. You can.
You will blame yourself. You’ll think you missed signs you should have seen. You’ll be convinced that you should have known. That you should have somehow gotten help earlier. You couldn’t have known. Don’t let yourself live there for long.
You will dig deep and find reserves of energy you never would have believed you had. You will run on adrenaline and crash into dreamless sleep. But you will come through it. I swear, you will. You will find a rhythm.
You will neglect yourself. You will suddenly realize that you haven’t stopped moving. You’ve missed the gym. You’ve taken care of everyone but you. You will forget how important it is to take care of yourself. Listen to me. If you hear nothing else, hear this. You MUST take care of yourself. You are no use to anyone unless you are healthy. I mean that holistically, my friend. HEALTHY. Nourished, rested, soul-fed. Your children deserve that example.
A friend will force you to take a walk. You will go outside. You will look at the sky. Follow the clouds upward. Try to find where they end. You’ll need that. You’ll need the air. You’ll need to remember how small we all really are.
You will question your faith. Or find it. Maybe both.You will never, ever take progress for granted. Every milestone met, no matter what the timing, will be cause for celebration. Every baby step will be a quantum leap. You will find the people who understand that. You will revel in their support and love and shared excitement.
You will encounter people who care for your child in ways that restore your faith in humanity. You will cherish the teachers and therapists and caregivers who see past your child’s challenges and who truly understand her strengths. They will feel like family.
You will examine and re-examine every one of your own insecurities. You will recognize some of your child’s challenges as your own. You will get to know yourself as you get to know your child. You will look to the tools you have used to mitigate your own challenges. You will share them. You will both be better for it.
You will come to understand that there are gifts in all of this. Tolerance, compassion, understanding. Precious, life altering gifts.You will worry about your other children. You will feel like you’re not giving them enough time. You will find the time. Yes, you will. No, really. You will. You will discover that the time that means something to them is not big. It’s not a trip to the circus. It doesn’t involve planning. It’s free. You will forget the dog and pony shows. Instead, you will find fifteen minutes before bed. You will close the door. You will sit on the floor. You’ll play Barbies with your daughter or Legos with your son (or vice versa). You’ll talk. You’ll listen. You’ll listen some more. You’ll start to believe they’ll be OK. And they will. You will be a better parent for all of it.
You will find the tools that you need. You will take bits and pieces of different theories and practices. You’ll talk to parents and doctors and therapists. You’ll take something from each of them. You’ll even find value in those you don’t agree with at all. Sometimes the most. From the scraps that you gather, you will start to build your child’s quilt. A little of this, a little of that, a lot of love.
You will speak hesitantly at first, but you’ll find your voice. You will come to see that no one knows your child better than you do. You will respectfully listen to the experts in each field. You will value their experience and their knowledge. But you will ultimately remember that while they are the experts in science, you are the expert in your child.
You will think you can’t handle it. You will be wrong.
This is not an easy road, but its rewards are tremendous. It’s joys are the very sweetest of life’s nectar. You will drink them in and taste and smell and feel every last drop of them.
You will be OK.
You will help your sweet child be far better than OK. You will show them boundless love. They will know that they are accepted and cherished and celebrated for every last morsel of who they are. They will know that their Mama is there at every turn. They will believe in themselves as you believe in them. They will astound you. Over and over and over again. They will teach you far more than you teach them. They will fly.
You will be OK.
And I will be here for you. Every step of the way.
With much love....
Tuesday, April 07, 2009
Brady's Walk 2009
On Sunday, April 26, at 1 p.m. the third annual Brady’s Walk 2009 will be held at D.W. Field Park in Brockton to raise money for the Williams Syndrome Association New England Region.As many of you know, my son Brady, was born in October 2005 with this genetic condition that affects 1 in every 7,500 births which causes physical and cognitive disabilities. The money raised will go to the Williams Syndrome Association (http://www.williams-syndrome.org/). This organization is pinnacle in aiding research efforts, WS education, and bridging a community of support and friendship. This Fall, the WSA will be holding the first-ever Regional Conference to help families in all aspects touched by this syndrome - medical, social, behavioral. We are excited to help bring this conference into being!
Brady is now three-and-a-half years old and has been on fire! In October he started preschool at the Bellingham Early Childhood Program four mornings a week, where he also has all his therapies. He is thriving at this school he loves, having fun with friends and at the water table, his favorite. He is using his posterior walker to get around, and is practically racing in it -- we are hoping that he will soon just start walking without it.
Health-wise, this has been a positive year. Brady had open heart surgery in February where he and I camped out at Children's Hospital for 10 days. Thanks to all of you for your prayers, visits and gifts... as scary as the situation was, it was well worth it -- as just spending one afternoon with him NOW can attest to! The surgery has done wonders for his energy level and aptitude. He doesn't slow down, cruising around and talking up a storm. It seems there is a light on the horizon now, as his development keeps moving forward at a great speed.
If you would like to join us in the Walk, please do! Last year we had over 85 adults and children (and two dogs!) participate, by walking, scooting and bike riding. We've seen the walk grow every year, both in numbers and in the size of the check we are able to donate to the WSA. We also have some fabulous raffle prizes this year, generously donated... a couple of nice surprises!
Donations for Walkers are $5 for a child, $10 for an Adult, or $25 for a Family. Attached is a pledge sheet if you would like to get additional sponsors. (Checks are to be made out to WSA.) Please let me know if you are walking, so I can order your t-shirt and send you inform
ation for the day. You'll also get details about the After Party, always fabulous with food, entertainment and fun! If you aren't able to come but would like to donate, please email me and I will let you know the address. Checks are to be made out to WSA. If you would like to donate a raffle prize, please email me at farrell4503@comcast.net.
Thanks in advance!
Kerry Farrell
Thursday, March 26, 2009
Brady's Walk 2009!
Sunday, April 26... same place, DW Fields Park, Brockton. Time will probably be 1 pm - I just need to coordinate with my partner in crime! More details to follow~
Wednesday, March 25, 2009
Back in the saddle again
It's been a whirlwind since coming home from the hospital. Brady has taken off like a rocket and I am amazed at how different he is.When we came home from the hospital that Tuesday night he was off crawling around, cruising... I had to call the nurse's station to make sure it was okay. They said whatever he was doing himself was fine, he wouldn't push himself to get hurt -- but I was amazed at this kid and his obvious forgetfulness over having open heart surgery just a week earlier. And he didn't slow down. His energy level was one thing --quick
ly crawling around, cruising more, jumping in bed every morning when I walked in to get him up-- but the other was his intent. Now you can see he has his eye on something and is going for it. Two minutes out of my eyesight the other day got him three-quarters up the basement stairs. Not moving the dog food bowl quick enough gets the food spread out all over the kitchen floor. Little, typical things that every two-year-old does that Brady is finally doing at three.Being feisty has been a real interesting aspect as well. His squirming and quickness made it especially hard to pick him up, especially since I couldn't pick him up under his arms until two days ago. We started back at school last week, where they noticed an instant improvement. They were happy to report how opinionated he has become - a sure sign of development. Of course, that excitement will probably begin to wane and we'll have to start some behavior modification, I am sure!
Health-wise, Brady only lost a few ounces, which was amazing. His eating has improved. His recovery with his incision
was remarkably quick. He has a different look on his face, he smiles more easily and readily. It actually frustrates me in one aspect, because I am wondering how he felt before the surgery -- he has a more relaxed look about him now. I have never been so aggravated over his non-ability to converse with me. What I wouldn't give for just a simple, "I feel great, mom!"(You'll note in these pictures Brady is actually doing SOMETHING... very little laying around now... he's outta here!!)
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