This morning, we got up bright and early, piled everyone in the car, and headed down the road to meet with Dr. Mervis and her team for round two.
Today, Buddy spent some time in a play session with one of the researchers, in a play session with me, at a Baby Think session, and in a phonological evaluation with another researcher. And I got to have my psyche evaluated about how stressful it is to have a child with special needs. Husband spent his time taking care of one or the other of the boys.
At the end of it all, Dr. Mervis reviewed all the data and then called Husband and me into her office to the discuss the results. She said it was all good news.
According to their calculations, he's "average or low average" in every area except fine motor--meaning that in his expressive (the way he talks) and receptive (what he understands) language, he's average. In his cognitive abilities, he's average. And in fine motor areas, he's delayed. And, she said, compared to other children with Williams syndrome, he's above average.
Wow.
She said that if we were to put him in a preschool with typically developing children, "he would not be the lowest in the classroom." And that we were to make sure his teachers know that he has Williams syndrome, but that he can do what is expected of him and that they should expect him to do just that.
And we were encouraged to keep doing what we're doing--enrolling him in therapies (especially in occupational therapy for fine motor skills), reading to him, finding ways to develop those fine motor areas (and looking for alternatives to coloring since he's uninterested in that), and just, in general, enjoying having him as our son.
So, how much stock do we put into charts, evaluations, and the like? I'm not really sure. One month, one evaluation says one thing, the next month another (albeit, more extensive) assessment says something different. Dr. Mervis's comments definitely made our hearts glad. But, he is who is, and it's up to us to continue to encourage him, teach him, and most importantly, through the working of the Holy Spirit, lead him to a personal relationship with Jesus Christ--something no amount of bar graphs and filled-in-bubbles can measure.
March 31, 2012
March 30, 2012
Evaluation Day, part one
A few months ago, I contacted one of the principle researchers on Williams syndrome to find out of there were any research programs we could enroll Buddy in. She said there were, and I signed us up.
Part of the program is evaluating the genotype/phenotype relationship in Williams syndrome--whether there's a correlation between the size of the deletion on the seventh chromosome (genotype) and how severe or mild the symptoms are (phenotype). The lab associated with the research program sent us a blood kit, and Husband, Buddy, and I had our blood drawn and then overnighted back to the lab. This was to test our DNA (genotype).
Today, we met with Dr. Mervis and her research staff who evaluate the phenotype--for example, Buddy's cognitive and language abilities. They had us fill out several questionnaires, asked us lots of questions, and did an assesment on Buddy that was similar to the one done last week, at his preschool evaluation. We'll go back tomorrow for a few more tests and to find out the results.
We were able to watch most of the assement through a one-way mirror, and there was some frustration on my part when Buddy didn't answer questions that I know he knows--his colors, how to count . . . . He knows his colors but when the researcher asked him for a red crayon, he gave her a purple one (he got most of the other colors correct). And when she asked him to count blocks, he didn't want to go beyond two. Sigh.
And then there are the inevitable "does he do ___?" questions that I answer no to and then watch as an hour later he does what I just said he didn't/couldn't do. Sigh again.
We'll see how the tests say he's doing tomorrow . . . .
Part of the program is evaluating the genotype/phenotype relationship in Williams syndrome--whether there's a correlation between the size of the deletion on the seventh chromosome (genotype) and how severe or mild the symptoms are (phenotype). The lab associated with the research program sent us a blood kit, and Husband, Buddy, and I had our blood drawn and then overnighted back to the lab. This was to test our DNA (genotype).
Today, we met with Dr. Mervis and her research staff who evaluate the phenotype--for example, Buddy's cognitive and language abilities. They had us fill out several questionnaires, asked us lots of questions, and did an assesment on Buddy that was similar to the one done last week, at his preschool evaluation. We'll go back tomorrow for a few more tests and to find out the results.
We were able to watch most of the assement through a one-way mirror, and there was some frustration on my part when Buddy didn't answer questions that I know he knows--his colors, how to count . . . . He knows his colors but when the researcher asked him for a red crayon, he gave her a purple one (he got most of the other colors correct). And when she asked him to count blocks, he didn't want to go beyond two. Sigh.
And then there are the inevitable "does he do ___?" questions that I answer no to and then watch as an hour later he does what I just said he didn't/couldn't do. Sigh again.
We'll see how the tests say he's doing tomorrow . . . .
March 29, 2012
"He's ours"
On October 17-18, 2011, we'll be visiting with Dr. Mervis, a Williams syndrome specialist. A few days ago, we received a packet of information and questionnaires to fill out before our visit. The other night, I sat down to go through them and asked Husband for his input on a few of the questions. So he was looking over my shoulder as I came to the question, "Please describe the best things about the child."
I thought for a bit and then answered, "He's loving, enjoys life, enjoys singing and music." And then I moved on to the next page.
Husband pointed to the question and answered, "He's ours."
I love this man.
I thought for a bit and then answered, "He's loving, enjoys life, enjoys singing and music." And then I moved on to the next page.
Husband pointed to the question and answered, "He's ours."
I love this man.
March 28, 2012
They call him The Count
At the yearly evaluation a few weeks ago, one of the questions the therapists asked, to gauge Buddy's cognitive ability, was "Does he understand the concept of one?" Although he's been able to say the numbers 1-10, I wasn't sure he understood what one of something was, so I answered in the negative. However, the very next day, he came to me and said, "Two brushes," and sure enough, he was holding two brushes (two of my make-up brushes, but never mind that part).
Many of the questions they asked weren't really things I had thought about before and didn't really know how to answer, and I think I sold him short in several areas. It would have been helpful to have their checklist before they came so that I could think over the questions and topics (although I also understand that giving parents the checklist would probably skew their data in other ways).
At any rate, he's started counting things (a la Count von Count from Sesame Street) and especially enjoys imitating the "ha, ha, ha" laugh that the Count (and his daddy) does.
March 27, 2012
The measure of a man (or boy)
It's that time again. That time when Buddy has his annual evaluation for First Steps. The time when I remember that it's been two years since we received his diagnosis.
I understand the need for yearly evaluations. I do. I understand that parents of typical children look forward to them because they tend to bring good news--"you've successfully met the goals we set for you and are therefore graduated from the program and no longer in need of our services." And I also understand that they provide a way to find out which areas are strengths and which are weaknesses needing work.
But that doesn't mean I have to like them.
As the therapists spent their requisite hour with Buddy, asking me questions, and observing him, making their little checks in the boxes on the evaluation sheets, and tallying up the "points," they finally announced that, yes, according to their calculations, he was still delayed in just about every area.
And I found myself wanting to say, "But . . . but . . . but isn't there something you can say he's good at? Where, for instance, are the check marks for 'can hum any tune after hearing it once'? Where are the boxes for 'learned the Doxology after only hearing it at church and knows that it ends with aaaaaaa-men'? What about the points for 'never met a stranger'?" But I didn't. Instead, I signed the forms I was supposed to sign, and the therapists went on their way.
I'm not the only parent of a child with special needs who feels that "pang" in their heart after an evaluation. Another father of a child with a disability wrote:
In the pile of papers I referenced yesterday were some old test scores. Since Paul attends public schools, they assess his educational progress as mandated by various federal and state bodies. The things they want to measure, he can’t do. His scores on reading, reading comprehension, math, math concepts and the like were as low as you can score and still be breathing.
The things they can’t measure – like his inherent, God-created dignity as a human being – he excels at. I used to cry when those came in the mail every year. They still make me sad, not because of how severely disabled they ‘objectively’ show him to be, but because this is the cultural measure of his worth.
And therein lies a danger to children with disabilities not yet born. These are the objective measures of ‘reality’ that doctors and social workers and university professors understand – and which are communicated to parents who live in and breathe the air of this culture. The decision to do away with such seemingly worthless human beings then appears to be obvious.
No, let us talk about what is truly real. God creates some to live with disabilities (Exodus 4:11), he knows all their days (Psalm 139:13-16), he will supply every need (Philippians 4:19), and he knows the end from the beginning (Revelation 21:5-7).
After the therapists went on their way, I found myself singing the chorus to this old 4Him song:
But there's more to what you're worth
I understand the need for yearly evaluations. I do. I understand that parents of typical children look forward to them because they tend to bring good news--"you've successfully met the goals we set for you and are therefore graduated from the program and no longer in need of our services." And I also understand that they provide a way to find out which areas are strengths and which are weaknesses needing work.
But that doesn't mean I have to like them.
As the therapists spent their requisite hour with Buddy, asking me questions, and observing him, making their little checks in the boxes on the evaluation sheets, and tallying up the "points," they finally announced that, yes, according to their calculations, he was still delayed in just about every area.
And I found myself wanting to say, "But . . . but . . . but isn't there something you can say he's good at? Where, for instance, are the check marks for 'can hum any tune after hearing it once'? Where are the boxes for 'learned the Doxology after only hearing it at church and knows that it ends with aaaaaaa-men'? What about the points for 'never met a stranger'?" But I didn't. Instead, I signed the forms I was supposed to sign, and the therapists went on their way.
I'm not the only parent of a child with special needs who feels that "pang" in their heart after an evaluation. Another father of a child with a disability wrote:
In the pile of papers I referenced yesterday were some old test scores. Since Paul attends public schools, they assess his educational progress as mandated by various federal and state bodies. The things they want to measure, he can’t do. His scores on reading, reading comprehension, math, math concepts and the like were as low as you can score and still be breathing.
The things they can’t measure – like his inherent, God-created dignity as a human being – he excels at. I used to cry when those came in the mail every year. They still make me sad, not because of how severely disabled they ‘objectively’ show him to be, but because this is the cultural measure of his worth.
And therein lies a danger to children with disabilities not yet born. These are the objective measures of ‘reality’ that doctors and social workers and university professors understand – and which are communicated to parents who live in and breathe the air of this culture. The decision to do away with such seemingly worthless human beings then appears to be obvious.
No, let us talk about what is truly real. God creates some to live with disabilities (Exodus 4:11), he knows all their days (Psalm 139:13-16), he will supply every need (Philippians 4:19), and he knows the end from the beginning (Revelation 21:5-7).
After the therapists went on their way, I found myself singing the chorus to this old 4Him song:
This world can analyze and size you up
And throw you on the scales
They can IQ you and run you thorugh
Their rigorous details
They can do their best to rate
And they'll place you on their charts
And then back it up with scientific smarts
But there's more to what you're worth
Than what their human eyes can see
CHORUS
Oh I say the measure of a man
Is not how tall you stand
How wealthy or intelligent you are
'Cause I found out the measure of a man
God knows and understand
For He looks inside to the bottom of your heart
And what's in the heart defines
The measure of a man
March 26, 2012
The advantages of speech therapy
From the time we enrolled Buddy in First Steps immediately after his WS diagnosis, we wanted him to have a speech therapist (since there are known speech delays in those with WS, we wanted to be proactive in getting him help). Sadly for us, speech therapists are few and far between in our area. We had one for a few months last year but she quit First Steps and so we were back on the waiting list.
Finally, in June, we got another speech therapist. Mrs. Jane came highly recommended from our OT, and I've been happy with her work with Buddy and her suggestions for us in working with him. One of those suggestions is to offer him more chewy and crunchy foods (e.g., those round Snyder's pretzles) to strengthen his jaw muscles to help with his speech.
Who said therapy can't be fun -- and delicious?
March 25, 2012
Optimistic Pessimist
I suppose I should stop saying that I see the glass as half-full and admit that I'm a pessimist. The glass is almost empty, for crying out loud.
When Buddy was diagnosed with Williams syndrome, I read as much as I could on WS and my pessimistic tendencies kicked into overdrive. It was easy to become bogged down in the things those with WS aren't supposed to be able to do. And it was easy to look at the goals we were setting for him in his therapies and think, "Will he ever get this?"
When the therapist says, "Oh, he'll get it eventually--just give him time," I find myself thinking, "Yes, but he's not a typically developing child who just has a few delays in some areas. He has a GENETIC DISORDER. He's not guaranteed success." I know--not the best attitude to take, is it?
Lately, however, he's been reaching the goals we've set for him. He walks, he runs, he jumps, he's started talking, and just today, he said, "I have to go." Husband had started potty training with him in May, 2011. I figured that, at this stage, it was an exercise in futility since he wasn't really expressing his wants and needs and wouldn't tell us when he had to go. We've just tried to catch him in the act and sit him on the pot to finish. But today, he stood up, and said, "I have to go." And he did. On the pot. And there was great rejoicing.
He's also been doing really well at puzzles lately. Visual-spatial deficits are common among those with WS and they aren't supposed to do well at things like puzzles. But all of his therapists have been working with him on them (as have we), and just in the past few weeks, he's been able to place the puzzle pieces -- even on ones he's encountering for the first time -- in their appropriate places.
And so, I've decided that I really need to get a handle on the pessimism and start approaching his life in a more half-full way. He will learn to feed and dress himself; he will learn to color in the lines; he will transition to a big bed; and he will learn to use the potty. He will. It may take him a little longer to learn things, but he will.
And, down the road, when the goals get bigger--reading, writing, going to school--we'll work just as hard at mastering them. He may not be guaranteed success, but it's up to us (while leaning on our gracious Lord) to make sure it's a viable option.
When Buddy was diagnosed with Williams syndrome, I read as much as I could on WS and my pessimistic tendencies kicked into overdrive. It was easy to become bogged down in the things those with WS aren't supposed to be able to do. And it was easy to look at the goals we were setting for him in his therapies and think, "Will he ever get this?"
When the therapist says, "Oh, he'll get it eventually--just give him time," I find myself thinking, "Yes, but he's not a typically developing child who just has a few delays in some areas. He has a GENETIC DISORDER. He's not guaranteed success." I know--not the best attitude to take, is it?
Lately, however, he's been reaching the goals we've set for him. He walks, he runs, he jumps, he's started talking, and just today, he said, "I have to go." Husband had started potty training with him in May, 2011. I figured that, at this stage, it was an exercise in futility since he wasn't really expressing his wants and needs and wouldn't tell us when he had to go. We've just tried to catch him in the act and sit him on the pot to finish. But today, he stood up, and said, "I have to go." And he did. On the pot. And there was great rejoicing.
He's also been doing really well at puzzles lately. Visual-spatial deficits are common among those with WS and they aren't supposed to do well at things like puzzles. But all of his therapists have been working with him on them (as have we), and just in the past few weeks, he's been able to place the puzzle pieces -- even on ones he's encountering for the first time -- in their appropriate places.
And so, I've decided that I really need to get a handle on the pessimism and start approaching his life in a more half-full way. He will learn to feed and dress himself; he will learn to color in the lines; he will transition to a big bed; and he will learn to use the potty. He will. It may take him a little longer to learn things, but he will.
And, down the road, when the goals get bigger--reading, writing, going to school--we'll work just as hard at mastering them. He may not be guaranteed success, but it's up to us (while leaning on our gracious Lord) to make sure it's a viable option.
March 23, 2012
Doctor visits
Sometimes, in moments of human frailty, I find myself thinking, Maybe if the pediatrician hadn't noticed Buddy's heart murmur oh-so-long-ago, we wouldn't be on the path we're on now. Maybe we wouldn't have needed all the doctor visits and therapies. . . . Maybe we wouldn't be the parents of a child with special needs. As if, somehow, not finding his heart defect would have sent us down another path and would mean that he didn't have Williams syndrome and wouldn't have needed the visits to the various specialists.
But just as quickly as that thought flits through my head, I realize its irrationality and remember that it was a good thing he was diagnosed early so we can monitor his physical problems and proactively help him with therapies and interventions. And I also remember that God has given us the grace we need as we need it. And I'm thankful for where we are in life and for Buddy and Cubby.
While Cubby and I were still in the hospital, he had the newborn hearing test required by law. He failed the test in his left ear. The nurse was pretty sure he didn't pass because he screamed through entire test but we were required to schedule a follow-up appointment with an audiologist. I made the appointment . . . and then cancelled it a few days later.
At his one-week appointment, Cubby's weight was a little lower than the doctor thought it should be so he wanted us to return a few days later for a weight check. It was again low and he wanted us to return again for another check a few days after that. I never went back. (And, according to the scale we're using at home, he's gaining weight just fine.)
Somehow, I've transfered the anxiety and stress I felt when we were dealing with Buddy's issues as an infant to Cubby, and I just keep thinking, I don't want to go there again. However irrational, my thought is that if I don't start making doctor appointments for him, then maybe I won't need to keep making them and we won't end up in the same place as we are with Buddy. Am I crazy?
At any rate, my hope now is that I'm not breaking the law by not having Cubby's hearing evaluated and that the Department of Health people won't come knocking on my door and that I won't be thrown in jail when they discover I cancelled the audiology appointment. If this is the last blog post I do for awhile, you'll know where I am . . .
But just as quickly as that thought flits through my head, I realize its irrationality and remember that it was a good thing he was diagnosed early so we can monitor his physical problems and proactively help him with therapies and interventions. And I also remember that God has given us the grace we need as we need it. And I'm thankful for where we are in life and for Buddy and Cubby.
While Cubby and I were still in the hospital, he had the newborn hearing test required by law. He failed the test in his left ear. The nurse was pretty sure he didn't pass because he screamed through entire test but we were required to schedule a follow-up appointment with an audiologist. I made the appointment . . . and then cancelled it a few days later.
At his one-week appointment, Cubby's weight was a little lower than the doctor thought it should be so he wanted us to return a few days later for a weight check. It was again low and he wanted us to return again for another check a few days after that. I never went back. (And, according to the scale we're using at home, he's gaining weight just fine.)
Somehow, I've transfered the anxiety and stress I felt when we were dealing with Buddy's issues as an infant to Cubby, and I just keep thinking, I don't want to go there again. However irrational, my thought is that if I don't start making doctor appointments for him, then maybe I won't need to keep making them and we won't end up in the same place as we are with Buddy. Am I crazy?
At any rate, my hope now is that I'm not breaking the law by not having Cubby's hearing evaluated and that the Department of Health people won't come knocking on my door and that I won't be thrown in jail when they discover I cancelled the audiology appointment. If this is the last blog post I do for awhile, you'll know where I am . . .
March 22, 2012
Normalcy
Cubby's first four weeks have gone by fast. And, to be honest, they've been a much better first-four-weeks than the first four weeks I had with Buddy.
We didn't know Buddy had Williams syndrome until he was diagnosed at 9 months. But during those 9 months, there was a nagging thought in the back of my mind, "Surely this can't be normal." His feeding difficulties, his SVAS, his sleeping difficulties, his weight-gain problems, his kidney problems, the way he didn't seem to be "getting it," the constant crying, the colic that lasted way beyond when it was supposed to end . . . .
Taken one-by-one, a mother might think, "Ah well, that's just the way he is." But when it's one thing on top of another, it's difficult not to think, "What is wrong with my child?"
I once asked Huband if he thought I was out of it during the first weeks of Kieran's life. "Weeks?" said he. "Try months." I suppose he's right. Lack of sleep does tend to mess with one's mind and personality. Kieran didn't sleep longer than 2-3 hours at a time until he was about six months. He didn't sleep through the night until he was 15 months. And he still doesn't sleep longer than 8-10 hours at night (but I'm not complaining on that point--I'm just glad he's sleeping!).
Until we got Buddy's diagnosis and I realized that what we were experiencing really wasn't normal, I had a difficult time understanding how anyone would want--or could handle--more than one child.
My prayer during the pregnancy with Cubby was, "Please, Lord, just let him sleep." I can handle life much better when I'm not sleep deprived. The Lord graciously heard my prayer and gave us Cubby. From the beginning, Cubby has given me more than just an hour of sleep at a time. And last night, he slept for five hours at one time.
Cubby is also eating well and gaining weight. And I don't have that "surely this isn't normal" thought continually running through my head.
I hope, for the sake of mothers everywhere, that this is more on the normal end of the spectrum. And I hope, for my sake, that the lengthening of nighttime sleep continues.
We didn't know Buddy had Williams syndrome until he was diagnosed at 9 months. But during those 9 months, there was a nagging thought in the back of my mind, "Surely this can't be normal." His feeding difficulties, his SVAS, his sleeping difficulties, his weight-gain problems, his kidney problems, the way he didn't seem to be "getting it," the constant crying, the colic that lasted way beyond when it was supposed to end . . . .
Taken one-by-one, a mother might think, "Ah well, that's just the way he is." But when it's one thing on top of another, it's difficult not to think, "What is wrong with my child?"
I once asked Huband if he thought I was out of it during the first weeks of Kieran's life. "Weeks?" said he. "Try months." I suppose he's right. Lack of sleep does tend to mess with one's mind and personality. Kieran didn't sleep longer than 2-3 hours at a time until he was about six months. He didn't sleep through the night until he was 15 months. And he still doesn't sleep longer than 8-10 hours at night (but I'm not complaining on that point--I'm just glad he's sleeping!).
Until we got Buddy's diagnosis and I realized that what we were experiencing really wasn't normal, I had a difficult time understanding how anyone would want--or could handle--more than one child.
My prayer during the pregnancy with Cubby was, "Please, Lord, just let him sleep." I can handle life much better when I'm not sleep deprived. The Lord graciously heard my prayer and gave us Cubby. From the beginning, Cubby has given me more than just an hour of sleep at a time. And last night, he slept for five hours at one time.
Cubby is also eating well and gaining weight. And I don't have that "surely this isn't normal" thought continually running through my head.
I hope, for the sake of mothers everywhere, that this is more on the normal end of the spectrum. And I hope, for my sake, that the lengthening of nighttime sleep continues.
March 21, 2012
WS Awareness Week
If you're friends with me on Facebook, it's likely you'll have seen a few status updates wherein I have endeavored to spread awareness about Williams syndrome this week. The main reason for having a "week" of awareness is to provide a concentrated effort to enlighten people about the disorder so that a diagnosis can come sooner rather than later (should one be needed).
Believe it or not, I've met several people with WS who weren't diagnosed until later in life--teens, thirties, etc. The earlier a diagnosis is given, the earlier therapies can start, medical treatment can be given, and parents can get relief by finally knowing what's "wrong" with their child.
I don't feel the need to say too much more about Williams syndrome here since, if you've been reading for some time, you're already aware that our son Buddy was diagnosed with the genetic disorder in August of 2009. And you've followed along as we've dealt with the issues related to WS. And you'll know my answer to the question, "did God create Williams syndrome?"
However, in the event that you're new to the WS universe (about 1 in 10,000 babies are born with the disorder and currently about 30,000 individuals are living with it), here's a link to a site that gives a brief overview of it.
And no, we're not concerned that waiting-to-be-born Cubby will also have the disorder. In most cases, it's caused by a spontaneous deletion on the seventh chromosome at the time of conception--it's not an inherited disorder. Since Cubby has chosen this week to enter the world, we won't be attending any of the WS awareness events this year, so I won't have an opportunity to blog on them. We'll look forward to doing so next year, Lord willing.
Believe it or not, I've met several people with WS who weren't diagnosed until later in life--teens, thirties, etc. The earlier a diagnosis is given, the earlier therapies can start, medical treatment can be given, and parents can get relief by finally knowing what's "wrong" with their child.
I don't feel the need to say too much more about Williams syndrome here since, if you've been reading for some time, you're already aware that our son Buddy was diagnosed with the genetic disorder in August of 2009. And you've followed along as we've dealt with the issues related to WS. And you'll know my answer to the question, "did God create Williams syndrome?"
However, in the event that you're new to the WS universe (about 1 in 10,000 babies are born with the disorder and currently about 30,000 individuals are living with it), here's a link to a site that gives a brief overview of it.
And no, we're not concerned that waiting-to-be-born Cubby will also have the disorder. In most cases, it's caused by a spontaneous deletion on the seventh chromosome at the time of conception--it's not an inherited disorder. Since Cubby has chosen this week to enter the world, we won't be attending any of the WS awareness events this year, so I won't have an opportunity to blog on them. We'll look forward to doing so next year, Lord willing.
March 20, 2012
Williams syndrome in the news
See also the Williams Syndrome Webwatch blog, which had posted links to relevant articles on WS.
Inspiration in Loyalsock -- Becky Eldredge
The Queen of Hearts -- Reese
Darius Rucker on Lifting Lives at the ACM
Darius Rucker sings with group at ACM
Embraceable, a film about WS -- Facebook page
Article on Embraceable
What is Williams syndrome?
Niceville pair to perform at ACM awards
Local musicians with disabilities become stars
New Port Ritchey man will appear at ACM awards
Coffeyville, Kansas Man With Rare Disorder To Perform At ACM Awards
Jeremy's Story (video)
Music from the Heart -- video of Darius Rucker and kids at the ACM Awards
Did God create Williams Syndrome?
Darius Rucker experiences "greatest musical moment"
Genes, Social Evolution, and God
Wanted: A Church Home
Network building -- Kurtis Cunningham
Event looks to put disorder on the map
Ralls walk set to raise awareness of WS
Another article on Darius Rucker
Family Raising WS awareness
Inagural 5K helping families with rare syndrome find support
It was awful not knowing what the problem was
Living with Williams syndrome
Fundraiser for WS awareness -- Carter Kava
Raising awareness for WS
Senator proclaims WS awareness week
Tots raise awareness for WS in Indiana
For woman with WS, music was key
WS Awareness in Nevada
Health Care Supervision in WS
2 little girls' rare genetic disorder reconnects old friends
Northwest special needs student meets with Bengals player
Drumming with Seth
Friendly to the Extreme -- article on the 20/20 episode featuring WS
Article on a gal in California
20/20 segment
Family raises awareness of disorder
Healthcare guidelines for WS
Clemson LIFE post-secondary education for those with learning disabilities
Think College
Update on Jeremy Vest
Super social gene may hold clues to autism
The Gregarious Brain
Cognitive and Behavioral Characteristics of Children with WS
Smiling No Matter What video
Inspiration in Loyalsock -- Becky Eldredge
The Queen of Hearts -- Reese
Darius Rucker on Lifting Lives at the ACM
Darius Rucker sings with group at ACM
Embraceable, a film about WS -- Facebook page
Article on Embraceable
What is Williams syndrome?
Niceville pair to perform at ACM awards
Local musicians with disabilities become stars
New Port Ritchey man will appear at ACM awards
Coffeyville, Kansas Man With Rare Disorder To Perform At ACM Awards
Jeremy's Story (video)
Music from the Heart -- video of Darius Rucker and kids at the ACM Awards
Did God create Williams Syndrome?
Darius Rucker experiences "greatest musical moment"
Genes, Social Evolution, and God
Wanted: A Church Home
Network building -- Kurtis Cunningham
Event looks to put disorder on the map
Ralls walk set to raise awareness of WS
Another article on Darius Rucker
Family Raising WS awareness
Inagural 5K helping families with rare syndrome find support
It was awful not knowing what the problem was
Living with Williams syndrome
Fundraiser for WS awareness -- Carter Kava
Raising awareness for WS
Senator proclaims WS awareness week
Tots raise awareness for WS in Indiana
For woman with WS, music was key
WS Awareness in Nevada
Health Care Supervision in WS
2 little girls' rare genetic disorder reconnects old friends
Northwest special needs student meets with Bengals player
Drumming with Seth
Friendly to the Extreme -- article on the 20/20 episode featuring WS
Article on a gal in California
20/20 segment
Family raises awareness of disorder
Healthcare guidelines for WS
Clemson LIFE post-secondary education for those with learning disabilities
Think College
Update on Jeremy Vest
Super social gene may hold clues to autism
The Gregarious Brain
Cognitive and Behavioral Characteristics of Children with WS
Smiling No Matter What video
March 19, 2012
"Ate great today"
A common frustration among most parents of children with Williams syndrome is the child's lack of eating. I'm not talking about a few days here or there when they won't eat, or when they turn up their nose at a certain food offering -- I'm talking about not eating for weeks on end. Some don't eat because they have texture issues or low enough muscle tone that they can't chew food properly and need to be fed via g-tube; others just simply don't eat for unknown reasons.
Kieran falls into the latter category. I never know if a day will be a good eating day (meaning he ate something for breakfast, lunch, and dinner) or a bad eating day (meaning he ate mostly nothing at any meal). Although I try to cram as many calories and good nutrition into him via drinks (kefir, Carnation instant breakfast, fruit juices) as I can, my mantra has become, "Well, we'll try again tomorrow."
He doesn't often eat the snack and lunch he's served at daycare, and apparently the daycare teachers have begun to feel my pain. On Friday, they were excited that he actually ate something for lunch and wrote it into their daily report for him.
He didn't eat the cupcake they gave him for morning snack (the mother of one of the girls in his class brought them in to celebrate her birthday), but he did actually eat the chicken tenders and fries for lunch. And there was great rejoicing -- by his daycare teachers
March 18, 2012
Mowing the lawn
We've been inundated with rain lately and today was the first time Husband was able to get around to mowing the lawn.
Buddy watched from the windows for a bit and then we decided to go outside and see what was what.
One of the symptoms of Williams syndrome is hyperacusis -- ultra-sensitive hearing. I didn't think Buddy was experiencing this aspect of WS until a few months ago when he began putting his hands over his ears in various situations, which don't, to me, seem loud or auditorily annoying.
He walks into his daycare class with his hands over his ears, expecting the little girls in his class to be loud. When we stopped at a restaurant the other day, a little girl said, "I know that boy -- he goes to my daycare. He puts his hands over his ears like this [she demonstrated] when it gets too loud."
Buddy watched from the windows for a bit and then we decided to go outside and see what was what.
One of the symptoms of Williams syndrome is hyperacusis -- ultra-sensitive hearing. I didn't think Buddy was experiencing this aspect of WS until a few months ago when he began putting his hands over his ears in various situations, which don't, to me, seem loud or auditorily annoying.
He walks into his daycare class with his hands over his ears, expecting the little girls in his class to be loud. When we stopped at a restaurant the other day, a little girl said, "I know that boy -- he goes to my daycare. He puts his hands over his ears like this [she demonstrated] when it gets too loud."
And this evening, he chased Husband and the mower with his hands over his ears.
Some WS kids wear a special type of earphones because their hyperacusis is so bad they can't handle the sounds of a normal day. I don't think we're quite there yet but we'll see what the future holds. In the meantime, Buddy did enjoy watching Husband and our neighbor mow their respective lawns, hands over ears and all.
March 17, 2012
A-vo-ca-do
I've mentioned before that there are known speech delays in people with Williams syndrome. Buddy hasn't been an exception. From what I've read and heard from other parents of those with WS, 28 months is the average age for speech to begin emerging. And it's been within the past few months that he's begun babbling more and trying actual words.
His first clear word, besides mama and dada, was bubble, which he uttered in the bathtub as Husband was blowing bubbles for him to catch (that was in February, 2011). Since then, he's been trying other words and sounds. Oddly enough, he seems to go after the longer words--such as avocado and alligator--instead of words such as car or blanket.
I took this video as he was going through the box of avocados my uncle recently shipped to us.
March 16, 2012
Great-Grace
In Pilgrim's Progress, one of the characters that Christian encounters in his pilgrimage is Little-Faith, who is robbed of his money by Faint-Heart, Mistrust, and Guilt. The commentary on Little-Faith in this curriculum reads, in part:
I found the video inspiring and encouraging that children with disabilities can enjoy and thrive in sports (and was actually very impressed that Jacob seemed to be bowling strikes and spares -- I'm not sure I can even hit the pins). However, the encouragement was tempered by the fact that Jacob (from what I gather) attends a school for those with disabilities. A quick reminder that we're not on the path of typically-developing children. And I found myself headed down the road behind Little-Faith. This isn't where I want to be. This isn't the future I want for Buddy. This isn't the path I want to be on. This isn't what I want to deal with. This isn't what I . . . .
Thankfully, before I could continue too far down the path and get pummeled too much more by Faint-Heart, Great-Grace stepped in and gently prodded my eyes upward, reminding me that God's grace is truly sufficient -- for the moment, for the day, for the future. And His peace passes understanding.
We may not be on the path that I want us to be on, but we're on the path that God, in His sovereignty, has placed us on. And because He's led us here, He'll give us the grace and mercy we need for every step of the way. Truly, great is the grace of our Lord.
Christians frequently talk of the woundings and beatings they receive from their lot in life. It's the bad things that seem to make for lengthy conversations around the dinner table. Yet frequently these gloomy discussions are simply the symptoms of losing spiritual comfort, peace, and assurance because of little faith. The three brothers [Faint-Heart, Mistrust, and Guilt] are constantly at our shoulder, whispering in our ear. Faint-Heartedness usually comes by either sinful conduct or negligence of the promises of God. Mistrust is sure to follow and ultimately Guilt beats us down.In the book, Little-Faith is saved from the robbers by the appearance of Great-Grace, the King's Champion. I was reminded of Great-Grace the other day after I watched this video of Jacob, a teen with Williams syndrome, who was featured as the "outstanding male student athlete" at his high school.
I found the video inspiring and encouraging that children with disabilities can enjoy and thrive in sports (and was actually very impressed that Jacob seemed to be bowling strikes and spares -- I'm not sure I can even hit the pins). However, the encouragement was tempered by the fact that Jacob (from what I gather) attends a school for those with disabilities. A quick reminder that we're not on the path of typically-developing children. And I found myself headed down the road behind Little-Faith. This isn't where I want to be. This isn't the future I want for Buddy. This isn't the path I want to be on. This isn't what I want to deal with. This isn't what I . . . .
Thankfully, before I could continue too far down the path and get pummeled too much more by Faint-Heart, Great-Grace stepped in and gently prodded my eyes upward, reminding me that God's grace is truly sufficient -- for the moment, for the day, for the future. And His peace passes understanding.
We may not be on the path that I want us to be on, but we're on the path that God, in His sovereignty, has placed us on. And because He's led us here, He'll give us the grace and mercy we need for every step of the way. Truly, great is the grace of our Lord.
March 15, 2012
The R-Word
When Buddy was diagnosed with Williams syndrome, we read a lot of literature that used the phrases learning disabilities, cognitive delays, and intellectual disabilities. In years past, the phrase mental retardation was used to describe those with Williams syndrome and the like.
March 2 was the national Spread the Word to End the Word day--a day dedicated to raising awareness about the use of the word retard in all of its various forms. I appreciate the fact that the addage "words can never hurt me" is not true, and that words do have the power to inflict pain. And I appreciate the desire to raise awareness about the harm just one word, when used pejoratively, can do. However, it seems to me that eradicating a word from a nation's vocabulary isn't necessarily the answer.
Those truculent bullies who currently use the r-word to demean others will simply find another word with which to tease and taunt, will they not? Soon enough, I would surmise, learning disability will become the new r-word and those in the know will come up with yet another euphemism to describe those with mental handicaps. And what sense does it make for a teacher to reprimand a student for using a word that is "dehumanizing" and then turn around and teach that same student that, within the evolutionary worldview, we're nothing more than animals descended from ape-like creatures?
Instead, I would suggest the focus should be on teaching that each individual--regardless of mental capacity, skin color, or gender--is an image-bearer of the Creator. God has created everyone fearfully and wonderfully and with the purpose of bringing glory to Himself. We do not share an ancestor with apes, nor are some people more "highly evolved" than others. And, in His Word, the Creator has shown us through His Son that we are to be kind to one another, speaking to and about each other with gentleness, helping those who are weaker than ourselves. We can encourage people to understand that each of us is in the same position before our Creator--sinners in need of salvation. When we receive the gift of eternal life in Christ, we are transformed inwardly through the power of the Holy Spirit into the image of the Son of God.
While there's a certain dagger that runs through my heart when I hear someone carelessly use the r-word, it seems to me that discontinuing a word isn't necessarily the answer but that reminding people of what the Word teaches is.
March 2 was the national Spread the Word to End the Word day--a day dedicated to raising awareness about the use of the word retard in all of its various forms. I appreciate the fact that the addage "words can never hurt me" is not true, and that words do have the power to inflict pain. And I appreciate the desire to raise awareness about the harm just one word, when used pejoratively, can do. However, it seems to me that eradicating a word from a nation's vocabulary isn't necessarily the answer.
Those truculent bullies who currently use the r-word to demean others will simply find another word with which to tease and taunt, will they not? Soon enough, I would surmise, learning disability will become the new r-word and those in the know will come up with yet another euphemism to describe those with mental handicaps. And what sense does it make for a teacher to reprimand a student for using a word that is "dehumanizing" and then turn around and teach that same student that, within the evolutionary worldview, we're nothing more than animals descended from ape-like creatures?
Instead, I would suggest the focus should be on teaching that each individual--regardless of mental capacity, skin color, or gender--is an image-bearer of the Creator. God has created everyone fearfully and wonderfully and with the purpose of bringing glory to Himself. We do not share an ancestor with apes, nor are some people more "highly evolved" than others. And, in His Word, the Creator has shown us through His Son that we are to be kind to one another, speaking to and about each other with gentleness, helping those who are weaker than ourselves. We can encourage people to understand that each of us is in the same position before our Creator--sinners in need of salvation. When we receive the gift of eternal life in Christ, we are transformed inwardly through the power of the Holy Spirit into the image of the Son of God.
While there's a certain dagger that runs through my heart when I hear someone carelessly use the r-word, it seems to me that discontinuing a word isn't necessarily the answer but that reminding people of what the Word teaches is.
March 14, 2012
Apraxia
A.P.R.A.X.I.A. Apraxia. It's a good Scrabble word.
This has been a busy week for us, filled mainly by a plethora of doctor visits. Today's was to the speech pathologist at the hospital for an evaluation of Buddy. We had him in speech therapy for about 5 months last year and then lost ST when the therapist quit First Steps. A developmental therapist has been coming since September but she works more on helping him communicate with signs than getting him to actually form words.
I set up the evaluation at the hospital because I've heard they have a fairly intensive program that helps kids with a variety of speech and language pathologies. Although he has about 10-15 signs that he uses and has recently started saying "ma ma" and "da da," I want to be sure we're doing everything we can for him and that something other than the known speech delays with WS isn't also hindering his expressive language abilities.
The speech pathologist was very kind and thorough. She spent about 1.5 hours playing with Buddy, asking questions and jotting down notes on her intake form. She'll be sending us her report in a few weeks. At the end, she said that based on what she has seen, it's possible that Kieran has a form of developmental speech apraxia. The good news is that there are several STs at the hospital who specialize in treating apraxia. So now we wait to see if our insurance will cover the therapy and for a therapist to have an opening in her schedule.
I'm very thankful that we live nearby such a good hospital and have so many services available to us.
This has been a busy week for us, filled mainly by a plethora of doctor visits. Today's was to the speech pathologist at the hospital for an evaluation of Buddy. We had him in speech therapy for about 5 months last year and then lost ST when the therapist quit First Steps. A developmental therapist has been coming since September but she works more on helping him communicate with signs than getting him to actually form words.
I set up the evaluation at the hospital because I've heard they have a fairly intensive program that helps kids with a variety of speech and language pathologies. Although he has about 10-15 signs that he uses and has recently started saying "ma ma" and "da da," I want to be sure we're doing everything we can for him and that something other than the known speech delays with WS isn't also hindering his expressive language abilities.
The speech pathologist was very kind and thorough. She spent about 1.5 hours playing with Buddy, asking questions and jotting down notes on her intake form. She'll be sending us her report in a few weeks. At the end, she said that based on what she has seen, it's possible that Kieran has a form of developmental speech apraxia. The good news is that there are several STs at the hospital who specialize in treating apraxia. So now we wait to see if our insurance will cover the therapy and for a therapist to have an opening in her schedule.
I'm very thankful that we live nearby such a good hospital and have so many services available to us.
March 13, 2012
Kidney follow-up
Because of the looming snowstorm, we spent last night at SIL's place. They live about 8 miles (compared to our 40+ miles) from the children's hospital and Buddy had an early morning appointment there. This one was a follow-up with the urologist to check on his kidneys. By the sounds of his crying during the ultrasound, you would have thought the tech was dissecting his kidneys rather than simply taking pictures of them. Buddy kept signing "all done" throughout the 15-minute ordeal and I had to keep telling him, "No, not yet."
After it was over and the doctor had looked at the results, he happily told us that his kidneys looked fine, looked like they were growing well, and that he didn't need to see us again for a year. And there was great rejoicing.
After it was over and the doctor had looked at the results, he happily told us that his kidneys looked fine, looked like they were growing well, and that he didn't need to see us again for a year. And there was great rejoicing.
March 12, 2012
SVAS
One of the distinguishing characteristics of Williams syndrome is SVAS -- supravalvular aortic stenosis. If you can decipher the medical terminology, you'll learn that SVAS consists of a narrowing of the aorta just above the valve that lets blood leave the heart.
Because they are missing the gene that codes for the protein elastin, which gives skin and blood vessels elasticity, most people with WS have SVAS to some degree. It can range from mild, requiring no intervention, to severe, requiring open-heart surgery to remove the narrowed portion of the aorta. And it can worsen or get better over time, which means constant monitoring by a cardiologist -- every three months, every six months, every year, depending on the situation.
SVAS is so connected to WS that it's often used to diagnose WS. When Buddy was first diagnosed with a heart murmur at two months by his pediatrician, we were sent to children's hospital for an echocardiogram. The result was that he had SVAS and the cardiologist mentioned that it may indicate he had WS. I asked if that might explain his failure-to-thrive and sleep problems, and the cardiologist replied, "It might." Because he seemed so nonchalant about it (although looking back, I can see that there was concern on his face about how we might take the news), I didn't give WS another thought . . . until Buddy was actually diagnosed with it several months later.
Although it's not the only medical condition common to those with Williams syndrome, it can be one of the more life-threatening. Buddy's has stayed in the "mild" range and, after his most recent echocardiogram, he was cleared to return in a year. Although I know that God is sovereign and gives His grace freely whenever we need it, I feel a certain apprehension in the weeks and days leading up to the visit with the cardiologist. Will the SVAS have progressed from mild to moderate to severe? Will he need surgery? And there's a sigh of relief that I breathe after each visit when he's given the "all clear until next time."
Through connecting to other families of those with WS on Facebook, I've found the same feelings are shared by other parents. When a positive results are returned on an echocardiogram, everyone feels the weight lifted and rejoices. And when a non-desirable outcome is given, everyone feels that kick in the gut and commiserates. Just today, one mom reported that her daughter -- close in age to Buddy-- had an echo that showed her SVAS had progressed to a near-moderate level. Surgery could be in their near future. And another boy -- 19 years old -- had open-heart surgery to correct his SVAS.
While we're praying for both of these friends, I'm reminded that being a parent of a child with special needs isn't something that we signed up for but that God is sovereign and always good. There are no guarantees of good health in this sin-cursed world, but He gives His grace daily, as we need it, and brings glory to Himself through the situations He brings our way.
Because they are missing the gene that codes for the protein elastin, which gives skin and blood vessels elasticity, most people with WS have SVAS to some degree. It can range from mild, requiring no intervention, to severe, requiring open-heart surgery to remove the narrowed portion of the aorta. And it can worsen or get better over time, which means constant monitoring by a cardiologist -- every three months, every six months, every year, depending on the situation.
SVAS is so connected to WS that it's often used to diagnose WS. When Buddy was first diagnosed with a heart murmur at two months by his pediatrician, we were sent to children's hospital for an echocardiogram. The result was that he had SVAS and the cardiologist mentioned that it may indicate he had WS. I asked if that might explain his failure-to-thrive and sleep problems, and the cardiologist replied, "It might." Because he seemed so nonchalant about it (although looking back, I can see that there was concern on his face about how we might take the news), I didn't give WS another thought . . . until Buddy was actually diagnosed with it several months later.
Although it's not the only medical condition common to those with Williams syndrome, it can be one of the more life-threatening. Buddy's has stayed in the "mild" range and, after his most recent echocardiogram, he was cleared to return in a year. Although I know that God is sovereign and gives His grace freely whenever we need it, I feel a certain apprehension in the weeks and days leading up to the visit with the cardiologist. Will the SVAS have progressed from mild to moderate to severe? Will he need surgery? And there's a sigh of relief that I breathe after each visit when he's given the "all clear until next time."
Through connecting to other families of those with WS on Facebook, I've found the same feelings are shared by other parents. When a positive results are returned on an echocardiogram, everyone feels the weight lifted and rejoices. And when a non-desirable outcome is given, everyone feels that kick in the gut and commiserates. Just today, one mom reported that her daughter -- close in age to Buddy-- had an echo that showed her SVAS had progressed to a near-moderate level. Surgery could be in their near future. And another boy -- 19 years old -- had open-heart surgery to correct his SVAS.
While we're praying for both of these friends, I'm reminded that being a parent of a child with special needs isn't something that we signed up for but that God is sovereign and always good. There are no guarantees of good health in this sin-cursed world, but He gives His grace daily, as we need it, and brings glory to Himself through the situations He brings our way.
March 11, 2012
PT and DT
On Friday we had a visit from a physical therapist. Although I had thought Buddy was doing fine with his gross motor skills, the evaluators at his yearly IFSP (individual family service plan) marked him 1.5 standard deviations below average. I was a bit surprised but decided to add a PT to his lineup just to keep tabs on him.
So it was she who came Friday morning. After watching him for an hour, she determined that he was doing mostly what he should be doing for his age and suggested that a monthly visit (instead of weekly) would be fine. I agreed, and so we'll see her again at the end of October.
The next visitor came a few hours later. Our speech therapist recently quit First Steps and since there are now only 2 STs servicing our area, we're again on a waiting list. (Buddy still isn't talking, so ST is definitely something I'd like to keep up with.) In lieu of a ST, our service coordinator suggested adding a developmental therapist, who supposedly can also help with speech.
March 10, 2012
Things we take for granted
Sunday evening, we were driving in the truck after taking the Golf to get its exhaust system replaced. Buddy was pretending to "talk" on my cell phone, so Husband got his out and played along . . . while he was driving.
I admonished Buddy, "When it's your turn, make sure you don't use your cell phone and drive at the same time, like Daddy is doing."
Husband quietly replied, "Do you think he actually will drive someday?"
I really don't know--I've not heard of any with WS who do.
Sunday morning, our pastor asked about the WS get-together from the previous week. "Now, is this something he'll eventually grow out of?" No, he has a genetic disorder--not a disease--which pervades every cell of his body. It's with him for life.
"And, is it one of those things where he'll live with you forever?" Possibly. It's difficult to know at this point how severely he'll be affected and what his limitations will be.
In a very real sense, there's a mourning that goes on when a diagnosis such as Williams syndrome is received. You begin to think of all the things you took for granted that your child would do: talk, run, color in the lines, learn to read, learn to drive a car, easily make friends at school, play sports, leave home, go to college, get married, have kids, pursue a career path. And you realize that many of them simply won't happen.
Although the initial shock of the diagnosis wears off, that sense of loss continues to present itself in various and sundry ways. It's not something that we morbidly dwell on but it does constantly reside in the backs of our minds. And it's the reason that we're involving him now in as much therapy as possible, so that his life is as full as it can be.
I admonished Buddy, "When it's your turn, make sure you don't use your cell phone and drive at the same time, like Daddy is doing."
Husband quietly replied, "Do you think he actually will drive someday?"
I really don't know--I've not heard of any with WS who do.
Sunday morning, our pastor asked about the WS get-together from the previous week. "Now, is this something he'll eventually grow out of?" No, he has a genetic disorder--not a disease--which pervades every cell of his body. It's with him for life.
"And, is it one of those things where he'll live with you forever?" Possibly. It's difficult to know at this point how severely he'll be affected and what his limitations will be.
In a very real sense, there's a mourning that goes on when a diagnosis such as Williams syndrome is received. You begin to think of all the things you took for granted that your child would do: talk, run, color in the lines, learn to read, learn to drive a car, easily make friends at school, play sports, leave home, go to college, get married, have kids, pursue a career path. And you realize that many of them simply won't happen.
Although the initial shock of the diagnosis wears off, that sense of loss continues to present itself in various and sundry ways. It's not something that we morbidly dwell on but it does constantly reside in the backs of our minds. And it's the reason that we're involving him now in as much therapy as possible, so that his life is as full as it can be.
March 9, 2012
Picnic at the park
There's an instant connection between families of those with Williams syndrome. They know about SVAS, failure to thrive, developmental delays, OT, PT, hippo-therapy, and that feeling you get when you first receive the diagnosis. We enjoyed being with such families today at a WS picnic in a park about an hour away.
We met a lovely 70-year-old woman, who apparently began the national WS association 30 years ago, and her 45-year-old daughter with WS. They were both very sweet to talk with.
March 8, 2012
Eternity
I was reminded again today that eternity is just a heartbeat away for any of us.
We met Wyatt and his family at an event in May--we saw them again at the WSA national conference in St. Louis. Wyatt was their WS son and had been through quite a lot in his young life. Today he was admitted to the hospital for an operation and went into cardiac arrest during the operation (as an aside, there's a known risk--as a result of "unexplained deaths"--in putting children with WS under general anethesia). He died while being air-lifted to another hospital. We're grieving along with our friends.
Although I have a link to the "good news" about eternity on the side of the blog, I would be remiss and unloving if I didn't ask you directly: Do you know for certain that you will go to heaven when you die? There are no "if I dies"--only "when." And, despite what you may have heard, eternity does wait for you after death--what you choose on this side of death determines whether you will spend it in heaven or in hell.
I would be even further remiss and unloving if I didn't share with you how you can know for certain that you will go to heaven when you die. I'll do so by pasting a section from a new children's booklet I'm working on:
I know for certain that I'll be spending eternity with God in heaven--not because of anything I've done or any inherent goodness in me--my salvation rests in the finished work of Christ on the cross on my behalf.
What's your choice?
We met Wyatt and his family at an event in May--we saw them again at the WSA national conference in St. Louis. Wyatt was their WS son and had been through quite a lot in his young life. Today he was admitted to the hospital for an operation and went into cardiac arrest during the operation (as an aside, there's a known risk--as a result of "unexplained deaths"--in putting children with WS under general anethesia). He died while being air-lifted to another hospital. We're grieving along with our friends.
Although I have a link to the "good news" about eternity on the side of the blog, I would be remiss and unloving if I didn't ask you directly: Do you know for certain that you will go to heaven when you die? There are no "if I dies"--only "when." And, despite what you may have heard, eternity does wait for you after death--what you choose on this side of death determines whether you will spend it in heaven or in hell.
I would be even further remiss and unloving if I didn't share with you how you can know for certain that you will go to heaven when you die. I'll do so by pasting a section from a new children's booklet I'm working on:
In the beginning, God made a “very good” world (Genesis 1:31). He made Adam, Eve, and the animals, and gave them plants to eat. But God said they couldn’t eat from one special tree. God said the punishment for disobedience was death (Genesis 2:17).
Instead of obeying God, Adam and Eve sinned. They disobeyed God’s command and ate from the forbidden tree (Genesis 3). Since that time, each person is born a sinner and disobeys God (Romans 3:23). We all deserve to be eternally separated from God in a terrible place called hell when we die (Romans 6:23). But God offers us a wonderful gift—life with Him in heaven forever!
God sent His son, Jesus Christ, to earth. Jesus lived a perfect life. But He was put to death on the Cross, paying the penalty for sin on behalf of mankind. He rose again three days later, showing that God had accepted His sacrifice. When we repent of our sins and believe that Jesus died in our place, we receive the gift of salvation from our sin (Acts 20:21; Ephesians 2:8–9; Romans 10:9–10). We become a child of God forever!Make no mistake, all roads do not lead to heaven. Jesus said, “I am the way, the truth, and the life. No one comes to the Father except through Me” (John 14:6). Faith in Jesus alone provides the way to eternal life. “Nor is there salvation in any other, for there is no other name under heaven given among men by which we must be saved” (Acts 4:12).
I know for certain that I'll be spending eternity with God in heaven--not because of anything I've done or any inherent goodness in me--my salvation rests in the finished work of Christ on the cross on my behalf.
What's your choice?
March 7, 2012
Kidneys
Did you know that your kidneys can reflux? And that there's a scale measuring the reflux? And that having kidney reflux in the 4 or 5 range usually requires surgery? And that kidney reflux is detected by inserting a catheter in you-know-where, filling the bladder with liquid, and watching the kidneys do their thing on an X-ray?
Well, they do; there is; it does; and it is. And we found out all about it today.
You may (or may not) remember that early last year, Buddy had 2 UTIs (urinary tract infections). Standard operating procedure after a UTI is to send the child to our nearby children's hospital to have the kidneys checked out. And so there we went. His kidneys were poked and prodded and it was determined that, on the kidney reflux scale, his kidney reflux was a 3.
Today, we had a follow-up kidney ultrasound and cistogram (the thing with the cath) to find out if the reflux had progressed or abated. Two screaming fits (one during the ultrasound, one during the cistogram, oh, and one during the taking of the blood pressure . . . so make that three screaming fits) and four hours later, we were informed that his kidneys look good and his reflux appears to be in the same range as before, meaning no surgery is required at this point. We'll return for yet another visit to the urologist and his ilk in six months to again assess Buddy's kidneys. Who knew kidneys could be so exciting? And so, um, draining?
March 6, 2012
A New Normal
Attending the national Williams syndrome conference in July, 2010, brought an interesting mix of emotions for me. On the one hand, I didn't want to be there since the mere fact that we were there served as confirmation (as if I needed it) that our son has a genetic disorder. Although I've accepted that idea that Buddy has Williams syndrome, I still feel a certain "sting" at times, and I realize all over again what the diagnosis brings with it. This was one of those times.
Being surrounded by hundreds of people, ranging in age from just a few months to over 50 years, who happened to be missing a certain section of genetic material on their seventh chromosome was like stepping into a world where "normal" was redefined. I didn't need to worry as Buddy chased the wheels on passing strollers because their child did it, too. I didn't need to be concerned about what people would think when Buddy walked up to total strangers and opened his mouth in greeting--instead of wondering what was "wrong" with him, they simply bent down and said, "Hey buddy, what's your name?"
Even among his age group, there was a wide range of capabilities--those who could walk but couldn't talk; those who could talk but couldn't walk; those who talked early; those who talked later; those who had severe medical problems; those whose were more mild. And it was all "normal."
And the smile on everyone's face was the same. The ability to make friends out of total strangers just by saying, "Hi, I'm Alex. I'm 25. I live in Toledo. What's your name?" was ubiquitous. And it was all "normal."
On Wednesday evening, the WSA held an Opening Night Reception for everyone. Of course, no gathering with WS people in attendance is complete without music. A live band performed for everyone.
It was almost magical to watch when the band began to play and all those with WS began gravitating toward the source of the music en masse.
I learned a lot from the sessions and was sorry I wasn't able to attend more. A few points stick out in my mind:
On the other hand, I wanted to be there--to learn as much as I could about WS, to meet other families, to know that we're not alone in this journey. And in those respects, the conference was a blessing.
And Buddy enjoyed it. (We'll need to work on his rhythm.)
And it was encouraging to watch this guy do his thing on the drums and wonder if that would be Buddy in a decade or so.
1. Therapy works. Although I know that the various early interventions (occupational therapy, speech therapy, physical therapy, etc.) work for typically developing children, there's been a nagging thought at the back of my head that maybe therapy wouldn't make a huge difference in the case of those with genetic disorders. However, Dr. Morris (a woman who has spent the last 20 years of her professional life researching Williams syndrome) mentioned in one of her sessions that the 9-10 year-olds she sees today are much further along than the 9-10 year-olds she saw just 10 years ago. Early diagnosis and intervention really do work. And I was encouraged to continue doing all we can to help Buddy gain every advantage.
2. Phonics works. In another session, Dr. Mervis (another WS researcher who happens to teach at a university just an hour away from us) presented her findings that those WS children who had been taught to read with a phonics program (instead of a sight-word or whole-language approach) were reading at or above what they should have been reading for their IQ level. Hooked on Phonics here we come. (if you're interested in reading Dr. Mervis's paper on the topic, send me an email and I'll send it to you.)
3. Music works. Several sessions emphasized the importance of incorporating a musical aspect to learning with WS kids--for example, through a music-minded unit study approach or teaching through song.
4. Replays works. Dr. Levine is another WS specialist and has developed a behavior modification technique she calls "Replays" which helps treat anxieties and emotional/behavioral problems in children with special needs (although she said her technique also works with typically developing children, too).
We also had a bit of fun while there when we attended nearby Grant's Farm with other WS families on Thursday evening.
We got to feed baby goats, see Clydesdale horses, ride on a carousel, and wander among a lot of other kinds of animals. It was a great evening.
We've returned to the real world and settled into the regular "normal" once again. But we're already looking forward to the next gathering in Boston in two years.
March 5, 2012
Did God create Williams syndrome?
A fellow mom of a child with WS recently posed this question in a blog post: Did God Create Williams Syndrome? I've been pondering my answer over the past weeks and tonight I take keyboard in hand to pen (or type) my response.
In a general sense, this question reflects the age-old question: Is God the author of pain and suffering?
Of course, we know that things did not stay the way they were in the beginning, and we have rebellious Adam (and the rest of us rebellious creatures) to thank for it. After Adam disobeyed God's command concerning that one particular fruit, God placed a curse on His beloved creation--the decreed punishment for the committment of high treason against the Creator of the universe. Particular aspects of the curse are spelled out in Genesis 3. The culmination of the Curse is separation from God forever through death. As accompaniments to death, we have its bedfellows pain, suffering, disease, and genetic disorders. (Of course, we're not without hope!)
Generally speaking, Williams Syndrome (along with all the various other genetic disorders) isn't God's fault. Genetic mutations (including spontaneous deletions on part of the seventh chromosome) are a now-natural result of no longer living in a "very good" world. So, did God create Williams Syndrome in this sense? No -- we, sinners in the hands of a holy God, did.
However, there's a more specific sense that I need to address, as well.
The Bible clearly teaches that God is the author of life--He forms each one of us and knits us together in utero. The Bible also clearly teaches He is sovereign over His creation--He is the one who is in control--not a laissez-faire deity that wound up his creation and now lets it go as it pleases. I believe that just as He is in control of the intricate workings of the universe, He is also in control of the intricate workings of conception. As such, I can't escape the thought that we are who we are -- genetic mutations and all -- as the result of God's handiwork. In this more individualized sense, God gave Kieran (and each one of us) a specific genetic combination, which, in Kieran's case, included a deletion of part of one of his chromosomes. (Let me add this caveat--I understand that our actions have consequences and, in some cases, the actions of parents before the conception/birth of their child can have dire consequences on the baby. However, even in these cases, God is still the ultimate author of that life.)
Does this make God an ogre or less than completely good? Not at all. Because His very nature is good, whatever He does is good. Whatever He does is good. And I believe that He does everything for a reason: to bring glory to Himself.
In answering His disciples' question about the reason a man was born blind, Jesus said: "Neither this man nor his parents sinned, but this happened so that the work of God might be displayed in his life." (John 9:3)
To relate this specifically to Buddy and Williams Syndrome, I believe that he (and each of us) is part of God's plan to bring Himself glory in some way--genetic mutations and all.
There's much more that I could say on these topics, and I know that better minds than mine have wrestled with such topics and come to varying conclusions. I don't want to pretend to have all the answers and so I invite your comments, good, bad, or ugly.
(Note: An updated version of this can be found here.)
March 4, 2012
Letter to the newly diagnosed parent
I've often thought it would be helpful if there were some sort of "introductory letter" that parents would get along with the diagnosis. And since I haven't yet found one, I decided to write my own.
Dear Friend,The news hits you like a ton of bricks, doesn’t it? You feel as if you’ve been punched in the stomach. The air is gone and you’re trying desperately to inhale again. Somehow, you’ve been given a ticket to an emotional roller coaster that won’t let you off, no matter how badly you want it to stop.
In a way, you’re going through a grieving process. You’re mourning the loss of the child you thought you had—the hopes and dreams you held for him, the unlimited potential he’s had since he was born. You may even be in denial that anything is “wrong” with your child. There’s probably some anger in there, as well (toward . . . someone? anyone!).
And you’re coming to grips with the child you now have. Suddenly, the future isn’t as clear as it once was. There are no guarantees or certainties any more. Although you’re not on the road you initially thought you were on, we can confidently say it’s not the end of the road. Instead, you’ve wandered onto (or been thrown onto) a detour from the path you were once skipping along so merrily on. Life will be different from what you expected even yesterday, but . . . (inhale deeply) . . . you can do this.
How do we know? We’ve been there. We’ve gotten the “genetic disorder,” “developmental delays,” “learning disabilities” diagnosis. The children we once viewed as perfect were also, at some point, diagnosed with Williams Syndrome. Our tears were as real as the ones pouring down your face. We, too, woke up in the middle of the night praying it was all just a bad dream, wondering if somehow the doctors had read the test results wrong and we weren’t really the parent of a “special needs” child, a child with life-threatening physical problems.
But then, as will happen with you, somehow, our pain began to subside ever so slowly. The tears began to dry up, and we began to come to grips with the diagnosis and what that meant for our families. As we did, you’ll research Williams Syndrome until you feel as if you could write a book on it (a good place to start is http://www.williams-syndrome.org/ ). And you’ll remember that the child now slapped with a “label” is still the child you’ve loved from the beginning.
You’ll want to get your child as much help now as possible. This could involve enrolling her in occupational therapy, speech therapy, or physical therapy (check with your local Head Start or First Steps programs for help). Or finding doctors in your area who are familiar with Williams Syndrome and can help treat or monitor the symptoms your child has. And you’ll want to get help for yourself in the form of support: you can visit the WS community on Facebook and check out the following blogs: williamssyndromefamilyhope.blogspot.com and williams-syndrome.blogspot.com.
Although it’s tempting to want to know now to what extent your child will be affected by WS (especially if you received the diagnosis early in his life), and although we’d love to tell you based on our experiences to what extent your child will be affected, we simply can’t. Just as each “normal” child is unique and develops according to her own schedule, your child is also one-of-a-kind and will travel her own path with your help and encouragement. We’ve learned to take each day as it comes and to do the best that we can in this moment.
Although you may feel as if you’re the only one going through this, we’re here to tell you you’re not alone. We’ve been there and are still there, walking together and offering encouragement and help when we can. The journey is different for every one but it’s a journey we’d be delighted to share with you and your family.
March 3, 2012
Speech therapy, finally
We've been on the waiting list for a speech therapist for Buddy since September, 2009. There are known speech delays in those with Williams Syndrome (although once they begin speaking, apparently, language becomes a strength), and we wanted to give him every advantage. Speech therapists are rare in our neck of the woods, and so it was only just last week (May, 2010) one called to set up an appointment to begin his therapy. From now on (or at least until he's 3), Tuesdays will be reserved for speech therapy with Lori.
March 2, 2012
Another day, another doctor appointment
Our nearby children's hospital has 47 separate divisions or clinics (cardiology, genetics, radiology, etc.). We have had appointments with 12 of those 47 clinics. I hope it doesn't sound like I'm complaining because I'm not (at least, I don't think I am). I'm merely stating a fact--we've made many visits to the hospital these past 18 months. Almost monthly hospital visits to a variety of specialists simply weren't on the agenda two years ago when we found out I was pregnant with Buddy.
But, as usually happens, you just "do the next thing" (to borrow a phrase from favorite author Elisabeth Elliot), God gives grace, and life goes on. Today's visit was with the radiology division to conduct a swallow study on Buddy--to make sure he was swallowing food and liquids as he should be (a common WS symptom is trouble with swallowing). The outcome was that all looked good and he was swallowing as he ought. And so, we move on to the next doctor visit, ENT (otolaryngology) . . . .
March 1, 2012
The piano
During my early and formative years, I took piano lessons. For whatever reason, out of all the songs we learned to play, the main one that sticks out in my memory is my sister's version of "Onward Christian Soldiers."
I can't say that I ever became really proficient at playing the piano, although I took lessons in college and accompanied the songtime at our church. Even so, when I moved away from my parents after college, I missed having a piano to tinker around on. Owning a piano has been on my wishlist ever since--one of those "some day . . . " dreams.
I'd heard about a piano store closing on the other side of the city, and we took a drive over there on Saturday to see what they were offering. While I walked into the piano store thinking I might purchase a cheap upright piano, I walked out with (what I hope is) a good deal on this better-for-us digital piano (no tuning required!).
And today, dodging the raindrops, I brought the piano in from the car and set it up. Both Buddy and I have tried it out. He still has a long way to go to reach the "proficient" (or at least the "playing an actual song rather than just banging on the keys") stage.
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