Interview with Lora

Lora is a friend I met via Facebook. She's a 48-year-old woman with Williams syndrome who has been married for 20 years. She's been an inspiration and encouragement to me and I wanted to share her story with you. With her permission, I'm sharing a chat session we had the other night. I'm hoping to have many more with her. If you have a question you'd like Lora to answer, leave a comment and we'll post her answer!

How old were you when you got your diagnosis of WS?

I was 6 years old.

When you talk to parents of children with WS, what do you like to tell them?

That it's so important not to hold them back

In what ways?

In all ways. A person with ws should be looked at as a prison not as some one who can't do any thing.

I want propel to see what we are made of don't tell you child you can't do this tell them thy can.

ive had a very ruff life but at the same time ive learned a lot to a bout who i am what i am

So, how do you see yourself? How do you describe yourself?

i see my self as a strong woman with ws

can i ask you someing

Sure.

is it hard for you

Hard for me to be the parent of a child with WS?

yes

i dont get to talk with prants with child with ws i wish i could talk more to them

Hmmm. The hard parts for me are seeing the struggles that my son has and wishing things would be easier for him, hoping that he doesn't get teased for being different as he grows up and goes through school, and, in the beginning before we got his diagnosis, wondering why he was having so many physical difficulties and not knowing the answers. It can be difficult to keep up with all the therapy and doctor appointments and intentionally spend time with him teaching him how to do things that come naturally to other children, but he has also brought so much into our lives that we wouldn't have if we weren't on this journey. And, most importantly, God has been good in giving us the grace and mercy we need as we parent him-- and in that respect, it's not "hard" being his mother -- it's a joy.

amen. this may sound funny but i think if you put any kind of child with a hadicampped im a home it will chang lifes for ever

that is for sure -- it definitely starts you a journey that you didn't expect to be on.

true

So, which of the physical aspects of WS have you had to deal with? Any heart problems?

yes. when i was little. no heart surgeries. i been blessed with that.

Any other physical problems?

not that i know of.
mom says i didnt start walking tell i was a little older.

What kinds of things have you gotten involved with as an adult?

i been to 3 conffcers
i vontteer for our hospice

What do you do for hospice?

i help with a lot of diffent things we have a group that gos to nurseing homes and we read to them i back cookies and do other things

i al so vontter for our art museum
i greet peopel as they come in love it

Can you tell me about how you met and married your husband Mark?

 i was a gretter at a fast food restaurant he was a ranch hand he would come in and sit in the middel of the restaurant

he was so shy it was sweet

we dint talk to eachother much

you know when the right man come in to your life at the right tim

i was going to a singles group just to fime a friend

he walked in to one i was at i al most fell out of my chair
i was working for charch fried chiken
he looked at me and sied your the chiken lady
lol
we started to talk a bout diffent things
then my friend who drove me there was geting ready to leave i thought
if i dont talk more to this guy i want get to again
so i told her ill fine some one to take me home
guess who i asked to take me home lol
so he took me home
telling my mom that i was in love was hared for me
i dint know my own feelings for this guy was to be honst i was scared to deith
our frist deat was on one of the ranchs he worked on

im a city girl here i am in the boonies

with goats and other things i never saw be for

it took me a few moths to trust him

so after a few moth deating i knoew i was in love

i asked him to marry me

Wow!

then we heared my aunt was very sick had to go see her

you talk a bout god puting me throw a test

my aunt had cancer i dint know a bout it

my aunt is stll alive healed of cancer

here i am now 48 been married 20 years

To be continued . . .

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.

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.

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.

And Husband was encouraged by meeting a 14-year-old Garrison, whose specialty is playing the harmonica. (This is a video of him playing elsewhere, although he also played for us during the picnic.)

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.

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.

With Buddy's diagnosis and the knowledge that he may have musical abilities which would need to be nourished and encouraged, my desire to own a piano has intensified. In one study I read, those with WS indeed has musical abilities, but those who took lessons and trained in the art were actually proficient at it.

Thanks to the 30% tax credit on the geo-thermal system and to overpaying on my quarterly freelance taxes last year, our tax refund was quite sizable this year. Although we're putting most of it in savings, I cajoled Husband into thinking about spending some of it on a few luxury items.

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.

First evaluation

The therapists came today to evaluate Buddy--one was an oocupational therapist and the other was a developmental therapist. They spent a little over an hour watching and playing with him, scribbling notes and asking questions about him. They said that by virtue of his WS diagnosis, he was automatically eligible for the First Steps program, which I was happy to hear. Overall, they said that he's doing well. The only delays they saw were in his fine motor and verbal skills. And on those counts, they said the delays weren't because he wasn't capable of developing those areas, but just that he hadn't yet developed those areas. The next step is to meet with a coordinator, formulate a plan, and choose the therapists and therapies we want.

Trip to the geneticist

Buddy celebrated his 10-month birthday with a trip to the geneticist today. The doctor wanted to go over WS with us and answer our questions. We didn't learn much new today--nothing, at least, that we hadn't already found out from our Internet searches--but we'll be visiting with the geneticist more often in the future as he monitors Buddy's development and works with us on finding research studies for Buddy to participate in.

First Steps

The intake coordinator came today to get the process started for enrolling Buddy in the First Steps program. Although he's been tracking fairly well, as least physically, the genetics doctor wanted him to get involved with early intervention services (EIS) as soon as possible so that he stays on track. The next step is an evaluation by therapists which will determine which therapies they think he should have.

FISH results

Today, the genetics doctor called to let us know that the FISH test results confirmed that Buddy has Williams Syndrome and that his calcium levels are in the normal range (meaning he doesn't have the hypercalcemia usually associated with WS).

I had read in various places that many WS parents use melatonin to help their child sleep better at night. With WS, it's not the normal child-wakes-up-once-in-awhile-at-night thing. It's that child can't settle down at night and continues to wake every few hours. For example, tonight, I put him down to bed at 8:30. At 10:30, he's still not fully asleep, although he's quieted down and isn't crying anymore. And he'll probably be awake and crying again sometime between 1 and 4 (if not several times). It's not that he can't fall asleep on his own -- he does fine during his naps. For some reason--which I haven't been able to pinpoint with all the reading I've done--WS kids just can't self-soothe very well and nighttime sleeping (or lack thereof) is a huge issue. It's difficult to explain the difference between WS sleep issues and a non-WS child who simply wakes during the night, but if you've been here during the evenings/night, you know what I'm talking about. And, quite frankly, the WS diagnosis was somewhat of a relief in this particular area because it means we haven't been doing anything wrong (at least in this area)--the issue isn't with how we've taught him to sleep (and believe me, I've tried everything to get him to sleep better at night--including seriously considering calling in a "sleep expert")--it's with him.

At any rate, I asked the doctor about giving Buddy melatonin to help him sleep better, and the doctor was fine with it. So tomorrow I go on the hunt for melatonin, hoping that it gives us all a better night's rest.

Welcome to Holland

If you're the parent of a child with a special-needs diagnosis, "Welcome to Holland" is probably one of the first things you read after you received the diagnosis. Shortly after Buddy was diagnosed with Williams syndrome, Husband's parents came to visit and Husband's mom brought a printout of "Welcome to Holland" for me to read (her youngest daughter, Husband's youngest sister, has Down syndrome).

This isn't new or original to me--it's been making the rounds for years--but I was reminded of it, again, the other day and decided to post it here.

Welcome to Holland
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this.

When you're going to have a baby, it's like planning a fabulous vacation trip to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around and you begin to notice that Holland has windmills and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away because the loss of that dream is a very, very significant loss.

But, if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

Welcome to Holland, part 2
I have been in Holland for over a decade now. It has become home. I have had time to catch my breath, to settle and adjust, to accept something different than I'd planned.

I reflect back on those years of past when I had first landed in Holland. I remember clearly my shock, my fear, my anger—the pain and uncertainty. In those first few years, I tried to get back to Italy as planned, but Holland was where I was to stay. Today, I can say how far I have come on this unexpected journey. I have learned so much more. But, this too has been a journey of time.

I worked hard. I bought new guidebooks. I learned a new language and I slowly found my way around this new land. I have met others whose plans had changed like mine, and who could share my experience. We supported one another and some have become very special friends.

Some of these fellow travelers had been in Holland longer than I and were seasoned guides, assisting me along the way. Many have encouraged me. Many have taught me to open my eyes to the wonder and gifts to behold in this new land. I have discovered a community of caring. Holland wasn't so bad.
I think that Holland is used to wayward travelers like me and grew to become a land of hospitality, reaching out to welcome, to assist and to support newcomers like me in this new land. Over the years, I've wondered what life would have been like if I'd landed in Italy as planned. Would life have been easier? Would it have been as rewarding? Would I have learned some of the important lessons I hold today?

Sure, this journey has been more challenging and at times I would (and still do) stomp my feet and cry out in frustration and protest. And, yes, Holland is slower paced than Italy and less flashy than Italy, but this too has been an unexpected gift. I have learned to slow down in ways too and look closer at things, with a new appreciation for the remarkable beauty of Holland with its tulips, windmills and Rembrandts.

I have come to love Holland and call it Home.

I have become a world traveler and discovered that it doesn't matter where you land. What's more important is what you make of your journey and how you see and enjoy the very special, the very lovely, things that Holland, or any land, has to offer.

Yes, over a decade ago I landed in a place I hadn't planned. Yet I am thankful, for this destination has been richer than I could have imagined!

The Diagnosis

It wasn't supposed to be this way. Life, that is. Life wasn't supposed to be the way it is. Women weren't supposed to die of leukemia when their children were three years old. Couples weren't supposed to struggle with infertility. Grandmas weren't supposed to slowly succumb to Alzheimers. Little girls weren't supposed to be born with an extra chromosome.

And little boys weren't supposed to be born with 26 genes deleted from the long arm of their seventh chromosome. Life wasn't supposed to be this way--full of death, disease, and suffering. Life was supposed to be full of . . . well . . . life. That's the way God originally made it--a "very good" creation, He called it. And yet here we are, living in a creation groaning under the weight of the Curse placed on it by its Creator because of sin . . . my sin, your sin, the sin of all mankind. It's not pretty, the effects of this sin.

 

In January, when we found out Buddy had the supravalvular aortic stenosis (SVAS), the cardiologist mentioned that it was usually associated with Williams Syndrome, and he wanted us to have Buddy undergo genetic testing. Since then, several of his other doctors have mentioned the association between aortic stenosis and Williams Syndrome, however, I didn't really think anything of it -- they didn't make it sound like it was serious, and I never bothered to google it and find out what it was.

Last week, the genetics office called to set up an appointment. That appointment was today. Today we found out that Kieran has Williams Syndrome. In some ways, this changes everything. In some ways, it changes nothing.

The diagnosis explains so many things--his "failure to thrive," the frustrations with his eating (or lack thereof), the delayed sleeping-through-the-night, why he doesn't really look like either of us, the SVAS, the kidney reflux . . . . At this point, the doctor wasn't able to determine what level of mental disability K would have, but assumed it would be in the mild to moderate zone, rather than severe. He was encouraging that Kieran would be able to live on his own in the future, although he'll probably need help with things like keeping track of his finances. And the doctor has referred us to the state physical therapy program so that we can keep him on track (or as close as possible) developmentally.

We'll have more doctor visits with the geneticist (and all the other doctors Buddy has been seeing) in the future. We'll just take it one thing at a time and see how Buddy develops. God is good--all the time.

Moving Forward

Buddy's diagnosis hit us both harder than I would have expected. I didn't realize how many expectations we held for him until we faced the possibility they would be taken away. But then, the Lord's peace began to work its way into our hearts. We know that His grace is sufficient and His mercies are new every morning. In fact, the verse on the bulletin cover this morning at church was, "It is of the Lord's mercies that we are not consumed, because his compassions fail not. They are new every morning; great is thy faithfulness" (Lamentations 3:22-23).

And, after grieving the loss of "what could have been" and wondering what this means for us and Buddy, we're ready to move on and embrace the possibilities of what will be. As you might expect, we've been researching Williams Syndrome, and little things like the following video are encouraging to us.



My mom has a master's degree in special education and is already researching the various therapies and interventions we can use as we work with Buddy. Husband's mom also has special insights into working with people with disabilities. We're surrounded by loving and encouraing family and friends, and we're looking forward to doing our best for our son. We'd like to see him "be all that he can be" (to borrow a phrase from the Army) and grow into the man God wants him to be.

For those who are interested in learning more about Williams Syndrome, here's a 45-minute video you can watch. Or if you're more of a reader, here's a website to peruse.

Thanks for praying for us.