Today is CdLS Awareness Day

Today is Cornelia de Lange Syndrome Awareness Day. Today, and every day, we celebrate all of the beautiful children in the CdLS family circle and all of their amazing accomplishments. Please take a moment to view the above CdLS Awareness Video. Visit the CdLS Foundation website to learn more about Cornelia de Lange Syndrome. With your help, we may be able to find one child and one family that may be seeking answers and need support. I am an awareness coordinator for the CdLS Foundation ~ something I greatly enjoy. Today I am sharing with you the reasons why I became an awareness coordinator ~ and why it is so important to reach out and let families affected by CdLS know they are not alone.

Our son Joey was born in 2004 and diagnosed with Cornelia de Lange Syndrome (CdLS) soon after. Since his birth, my family's lives have changed dramatically in many ways - many of them good ways.

Even though therapy sessions, doctor visits and special education services have become our lives, our normal, we have been blessed with a gift more valuable than we could have ever imagined. Joey has taught us so much about life and love; he has lifted our spirits and enriched our souls.

He also inspired me to become a volunteer awareness coordinator for the CdLS Foundation. There are so many important things to learn and share about CdLS. My family has chosen an open and honest approach when sharing information about Joey's condition. The more people learn about CdLS, the more comfortable they are around Joey, and that is beneficial to him.

The CdLS Foundation provides information, support and the materials I need to promote awareness in my community through various activities. Educational awareness about CdLS is such an important step towards understanding and acceptance. It is also very important to let other families know they are not alone in the daily challenges of raising a child with CdLS. I know firsthand that it helps to know there is a huge network of support available.

And finally, I became an awareness coordinator for the CdLS Foundation because I want to let people know it is okay to have a child with special needs. It really is okay. We don't seek sympathy. We don't have to be embarrassed or remain secluded. We just want the world to accept our children for who they are, for the good things they have to offer, for the smiles they create, and for the hearts they capture. Becoming an awareness coordinator has been one of the most important, and best, decisions I have ever made. Promoting awareness about CdLS gives the the strength and courage I need to be a strong voice for Joey and all children with CdLS.

CdLS then... and CdLS now...

Six years ago today, a beautiful baby boy was born. We named him Joey. He had lots of hair, tiny hands and feet, and the faintest little cry. He was everything we had hoped for and more. We loved him and he loved us. That's all we needed. And then our world came crashing down. There was something wrong. We did not know it at the time, but we were about to become very familiar with the words Cornelia de Lange Syndrome. CdLS. Six years ago, the letters CdLS were very scary and packed a powerful punch. They meant Challenges. Not just the normal Challenges parents face when bringing home a new baby, but challenges you never thought you would have to face in your life. The Challenges of raising a child with special needs, the Challenges of an uncertain future, the Challenges of telling family and friends something is wrong with your baby and the Challenges of juggling numerous doctor's appointments. Wondering what kind of Challenges Joey would face in his life. The letters CdLS also brought Denial. Of course no one ever wants to believe there may be something wrong with their child. Sometimes it's easier to think there's not than to face up to it and deal with what is happening. I spent a lot of time in Denial ~ we couldn't get any clear answers about Joey for quite awhile so I figured if no one could give us a diagnosis he must me okay. Right? Wrong. Denial was my enemy ~ it kept me from getting the answers I needed, the help Joey needed. But once I decided to leave Denial behind and worked through my grief, good things started happening. Good people entered our lives. Some answers were found ~ we were on our way to the most amazing journey of our life. 6 years ago, we were also Lost. We couldn't find direction ~ wandering aimlessly through life knowing in our hearts something wasn't right but letting our heads keep telling us everything was okay. Being Lost is scary. Being Lost is overwhelming. Being Lost means we are alone. It's frightening to feel helpless and Lost. But we are lucky ~ we found help and support and now know we are not alone. You know Amazing Grace ~ the line about "I once was Lost, but now am found"? That is so true for us. We were also full of Senseless, unanswered questions. Why is this happening to Joey? Why is this happening to our family? Will he be okay? Will he live? Die? We couldn't make Sense of any of it. We couldn't wrap our heads around it - couldn't grasp what was going on. Challenges, Denial, Lost, Senselessness. This is what we thought CdLS meant. But once we decided to face CdLS head on, these letters took on a new meaning for us. The feeling of helplessness and hopelessness lifted. Today, for our family, the letters CdLS aren't scary anymore. They are for new things ~ good things. Now we have Courage. Courage to face all the challenges that go along with raising a child with disabilities. Courage to stand up and let people know it's okay to have a child with special needs. Courage to have strong voices. We've learned a lot about Courage from Joey. He's shown it every day of his life. We also have Determination. We are Determined to have Joey get the help he needs. Determined to keep seeking support and raising awareness about CdLS. Determined not to let the feelings of hopelessness and helplessness ever return. And Joey is very Determined to reach his goals and be the best he can be. Love is also with us. It is unconditional and keeps us going through the tough times. Joey has taught us so much about Love ~ his smile, his laugh, his heart ~ he is so full of Love and shares it with everyone he meets. Love surrounds us. Having a child with disabilities helps us realize how blessed we are to have been chosen to be a part of the special needs world ~ Joey's world. We don't know where we would be without the Love and support of everyone we've gotten to know because of Joey. Today, we also have Strength. A strength we never knew we could possess. My husband summed it up best today when he said (via his facebook status this morning):

"Dear Joey, Happy 6th Birthday today son. When you were born, I was convinced that I wasn't strong enough to raise a child with special needs. After watching how hard you work and how far you have come, I have changed my mind. I am a better father and a better person because you came into our lives. Your mother and I are proud of you and love you very much. Keep working hard. Love, Dad."

Now, my turn...

"Dear Joey, Happy 6th Birthday today son. Today, we celebrate you and all you have accomplished. We celebrate all the joy you have brought to our lives. We celebrate today because it marks the day God thought we were worthy enough to be blessed with such a special child. You have shown us the way and guided us into a wonderful life and for that we are grateful. You are the best teacher I have ever known. Your dad and I and your brothers and sisters are proud of you and love you very much. Keep up the good work. Love, Mom."

Bad Blogger?!?! Not me!

I have been a bad blogger lately. Really bad. Easter has passed, baseball season is here and I haven't even posted any pictures from Christmas! Like I said - bad blogger! And I'm not sure where to place the blame. I could blame the kids, the husband, the cats, the house, the dishes, the job, the weather, the neighbors, the computer, the mailman, the economy...the list could go on and on. Oh, and don't forget facebook. But that probably wouldn't be fair - would it? It's been a long, cold, snowy winter but we are emerging victorious. The snow is all gone now (finally) and we are looking forward to a glorious spring and summer. Hopefully. But a couple days ago it was like 30 degrees, rainy and windy. Today it is 70 and gorgeous. So who knows. Tomorrow we could have another blizzard and be snowed in again like we were for Christmas. And New Year's. And Valentine's Day. And President's Day. And St. Patrick's Day. Ok, maybe we weren't snowed in on St. Patrick's Day, but there was still some snow around. The others are legitimate.

All in all we are good. Joey is doing well - his walking is quickly turning into running and it is awesome. I will chase him to the ends of the earth if I have to and enjoy every minute. He loves to go to school, be outside and take a bath. He is mastering the hand gestures to itsy bitsy spider and will start his 4th season of horseback riding therapy soon. Every day it seems he learns something new - and it generally brings tears to my eyes. He's come a long way.

The other kiddos are good too. Emma and Abbie are always a team - when one is doing something the other is usually involved. Emma turned 5 in March and is all registered for kindergarten this fall. Abbie will be 4 in May. John and Tommie are in the midst of baseball season. Keeps us running all over but wouldn't change a thing. Too soon and they will be heading off on their own. Not sure if I like all this - it means I am getting older too and the kids will be gone before we know it. But I will hang on to them for as long as I can.

Shawn and I are alright too. Usually exhausted but holding our own. Sometimes we don't know if we are coming or going but it's all good. In March I got a phone call from one of the radio stations in Omaha. For those of you who don't know, I am a huge fan of Bon Jovi. I have loved them since I was a teenager - their music never gets old! Shawn knows full well that if Jon Bon Jovi ever comes knocking on my door, he's out and Jon is in! The DJ told me that a good friend of mine had contacted them about our family and said they had two tickets for their concert that night! I was ecstatic to say the least! It was overwhelming! The concert was awesome - it felt so good to be young again and forget our worrys for a few hours! 25+ years and Bon Jovi can still rock the house! Thanks Brenda - what you did and that night will stay in my heart forever!

For now, we keep pretty busy. I can't wait for our trip to Dallas in June for the 2010 CdLS Conference. I am so excited! Got the registration forms sent in, got the hotel room booked, and now I am searching for some low airfare from Omaha to Dallas. It will be so good to be with our CdLS friends and families - see some familiar faces and make new friends too. When we went to Chicago in 2008 (our first conference) it was fantastic. The conferences are life changing and give us just what we need to keep going. It is so good to know we are not alone and everyone feels like one big family. If you are a CdLS family reading this and are undecided about going, please go if you can. It's not to late to sign up. You will be so happy you did.

Here are some current pictures from Easter. When spring is in the air, I have no motivation to post Christmas pictures - too many snow memories! Hopefully one day soon I can put together a slide show of pictures from the last few months. You know, in my spare time. In the meantime, I promise to get back to blogland and catch up with what everyone has been up to. Happy Spring!

Joey has figured out how to work several door handles...

Our five with our niece and two nephews on Easter...

Emma, Abbie and Joe with our niece Aubree and nephew Cooper...

Tommie and the girls...

Joey WALKING with his Easter basket hunting for eggs in Grandma's back yard...

Leaving the Easter egg hunt with baskets of candy...

Joey and dad looking for eggs at one of our local hunts...

The 3 little ones with the Easter Bunny...couldn't convince John and Tommie to go

Tommie got confirmed on Palm Sunday at our church...

Emma and her birthday cake made by Grandma Jerry...she and Joey are now 5 together for a few weeks

A picture of Jon Bon Jovi (my first love) from the concert we went to...

Rare Disease Day

The CdLS Foundation is a partner in Rare Disease Day, which takes place Sunday, Feb. 28. Take a moment to learn about this annual world-wide event by following the link below. You can even share your own CdLS story. Send it to rarediseaseday@rarediseases.org (500 words or less and please be sure to copy the CdLS Foundation at outreach@CdLSusa.org).

Here is our story...

Our son Joey was born in 2004 and diagnosed with Cornelia de Lange Syndrome (CdLS). CdLS is a congenital syndrome, meaning it is present from birth. The exact incidence is unclear, but CdLS is thought to occur in approximately 1 in 10,000 live births. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight, slow growth, small stature, and small head size. Facial features include thin eyebrows (which frequently meet midline), long eyelashes, a short upturned nose, and thin downturned lips. Excessive body hair, small hands and feet, and incurved fifth fingers may also be indications of CdLS. These children and adults can battle such health conditions as gastroesophageal reflux, seizures, cleft palate, feeding difficulties, eye problems, hearing loss, behavioral issues, and developmental delays. Limb differences are also found in some individuals.

Joey is a source of extreme joy for our family. Blanketed by two older brothers and two younger sisters, he learns from them and they from him. He is one of the greatest teachers I have ever known. He has taught us patience and understanding. Joey has also taught us to take one day at a time and find joy in the little things. He has opened up a whole new world to us that we never knew even existed. A world we are blessed to be a part of. He has come so far and we are very proud of his accomplishements. Joey works very hard - he goes to kindergarten, attends physical, occupational, speech, and music therapies. He has also participated in equine therapy since he was three years old. All of these activities and therapy sessions have made it possible for him to reach his goals and for that we are grateful. We are also grateful to know that Joey has CdLS. So many children and adults are living without a diagnosis - therefore not getting the services they need to help them live their lives to the fullest. The Cornelia de Lange Syndrome Foundation offers information and support to children and adults and their famlies who are facing the daily challenges of living with CdLS. Without them we would be lost. If you know and love someone with CdLS, or if any of the characteristics described sound familiar for someone who may be living without a diagnosis, please contact the CdLS Foundation at 800-223-8355. The help you need is right there waiting for you.

Heaven's Very Special Child...

Heaven's Very Special Child

A meeting was held quite far from Earth.
It was time again for another birth.
Said the Angels to the Lord above-
"This special child will need much love.
His progress may be very slow,
Accomplishment he may not show.
And he'll require extra care
From the folks he meets down there.
He may not run or laugh or play,
His thoughts may seem quite far away.
So many times he will be labeled
different,helpless and disabled.
So, let's be careful where he's sent.
We want his life to be content.
Please, Lord, find the parents who
Will do a special job for you.
They will not realize right away
The leading role they are asked to play.
But with this child sent from above
Comes stonger faith, and richer love.
And soon they'll know the privilege given
In caring for their gift from heaven.
Their precious charge, so meek and mild
Is heaven's very special child."


Edna Massimilla

Santa's sleigh was in the shop...

Santa Claus came to town so we took the kids to see the big arrival. Even the big boys went with us. It made for some great quality family bonding time. He arrived in a horse drawn carriage - we told the girls Santa's sleigh was in the shop and the reindeer were resting up for their big travels on Christmas Eve. The girls were a little scared to sit on Santa's lap - Emma never did and she also did not utter one word of her Christmas wishes to Santa. Abbie got a little more brave - she sat on Santa's lap and told him she wanted a princess for Christmas. She would probably do anything for a new princess! Joey sat on his lap too - he didn't even try to pull on Santa's beard! John and Tommie were good sports and earned a candy cane from Santa.
I was hoping for an awesome picture of all of them with Santa but it was pretty crowded in Santa's tiny house with him, the 7 of us and a lady from the Chamber of Commerce in there. The weather was beautiful and we enjoyed a nice ride in Santa's carriage before we went home.

Here comes Santa Claus...

He's getting closer!

There he is!

Riding in Santa's carriage...

Emma and Abbie were a little shy...

They did get closer but you can't see their faces! Too much light I guess!

Joey liked Santa right away!

Dad and Joey taking a little stroll...

John earned his varsity letter for football!

Our little cover boy...

Is that a handsome face or what? Joey is on the cover of the latest issue of Reaching Out...the newsletter that the CdLS Foundation publishes 4 times a year. Reaching Out is full of all the latest news about Cornelia de Lange Syndrome, fundraising efforts and all kinds of helpful information. The picture of Joey was taken by Rick Guidotti of Positive Exposure last summer at the CdLS Conference in Chicago. To read the latest issue of Reaching Out, click here. If you are raising a child with Cornelia de Lange Syndrome or know someone who is, please contact the CdLS Foundation. You will be so glad you did. They are a wealth of information and support. You will discover that you are not alone.

X marks the spot

I'm not sure if you can read the above picture, but it is Joey's Kindergarten report card. He brought it home in his folder the other day. At first I was so excited! I'm thinking to myself I can't wait to look at it! I am so proud of how well he is doing in school! His social skills are great, his teachers really like him, he's been doing some great learning activities and his walking is getting better and better every day! As I started to read his report card, my emotions slowly deflated. Knows letter sounds...x. Knows letter names...x. Uses sounds to make words...x. Understands math concepts...x. Writes name...x. Counts objects correctly...x. I'm thinking "x"? What kind of grade is "x"? It turns out that "x" stands for "not evaluated at this time". I'm not sure what I was thinking...I guess I should have prepared myself somewhat before I looked at his report card. I guess I didn't know what his first kindergarten report card would be like. I was just excited to see it. I don't know if I thought I would see A's and B's like on John and Tommie's report cards...or E's, S's and G's for excellent, satisfactory and good. I don't know. All I know is I was sooooo excited that Joey brought home his first report card! And I can't leave out that he got two G's for music and two S's in P.E. Yay Joey! But it was seeing all those x's that really brought me down. Why is it when things seem to be going so great for your child there always seems to be one word, one phrase or one action that just knocks the wind out of you? Not evaluated at this time. Of course he can't be evaluated for these skills at this time...he is unable to do them. This is what hit me like a ton of bricks. When will he be able to be evaluated for these skills? When he is 10? 15? 20? 30? 40? I know he is unable to perform the same tasks as his kindergarten peers - but he has a great ability to learn. We have high hopes that someday he will be able to do these things. It's just kind of scary to not know when that someday will be. When you are raising a child, regardless of their abilities, there are joys and triumphs and unfortunately some sorrows too. Hopefully the joys and triumphs far outweigh the sorrow. This report card called life is full of A's, B's, G's, S's, E's and of course X's too. We just have to do the best we can. A friend of ours has this saying in her email signature: "Nobody can go back and start a new beginning, but anyone can start today and make a new ending." So that's what I'm gonna do.

"You tried to win tickets???"

Shawn called me from work a couple weeks ago and said "Guess what? I just won 4 tickets to Vala's Pumpkin Patch on the radio! I was caller number 5!" Now Shawn is a good sport and usually goes along with any crazy schemes we may have of taking all the kids somewhere, but there is usually a little mumbling and grumbling. Plus the patch he won tickets to is about an hour and a half drive each way from our home. Needless to say, I was a little surprised that he would try to win tickets to this place and promote an out of town trip with the kids. So I said "You actually tried to win tickets to a pumpkin patch?" And he said "Sure, why not?"
Now I did a double take and wondered if this was the same husband talking that I have been married to for 17 years. I said "Okay! That's great! When should we go? How about next Saturday?" He says "Well, Nebraska plays football on TV that day and such and such game is on at 3:00 and then I wanna watch so and so play at 7:00 and..." No more doubts...this was definitely Shawn I was talking to!

So I looked at our calendar and discovered the kids had no school on October 19. A teacher work day or something. Shawn got the day off from work and the plans were set! We had a great time! The weather was gorgeous...we really lucked out because it has been cold, windy and rainy here for quite a few days. Monday it was 75 degrees, sunny and the perfect day to spend outside. John had to stay behind because he still had football practice in the afternoon. I could tell he was deeply saddened to have to stay home...a quiet house, computer and Xbox all to himself, his car in the driveway and $20 in his pocket "in case he needed anything". Of course he really wanted to go with us (yeah - right!).

We had a fantastic day filled with pig races, dragon shows and jumping pillows. Did I mention the Barnyard Animal Band and giant rocking chair? Yes, there were pumpkins too. Also, before you ask, Emma is wearing a blue/greenish tye-died type shirt and pink and grey striped pants. Why? It wasn't a battle I was gonna win. She picked out her outfit the day before we went and was bound and determined to wear it to the pumpkin patch. She wanted to be pretty for our trip she said. How can you resist that? Plus I wore an orange Happy Halloween shirt that lights up when I move. So technically she wasn't out of place. You gotta dig it.

(Ummmm...yeah - somehow I left these two pics out of the slide show)
Us at the beginning...How tall this fall?

Tommie and the girls ended the day with giant lollipops!

Do You See Me?

The above video was made by a good friend of our family. She used to be Joey's Service Coordinator for the Early Development Network up until he turned 3. She had a vision of giving all kids with disabilities a strong voice...and an opportunity to be heard. When she approached us about including Joey in the video of course we said yes. She did a great job and we are so proud to be part of such a wonderful project. Thanks Jen - you are awesome!

Awareness about any disability is a big step towards acceptance. We have found in our experience that the more people that know and understand about Cornelia de Lange Syndrome, the more comfortable they are around Joey which is greatly beneficial to him in all aspects. We have to be the voice for our children, stand strong and help people realize how much of a blessing our children are in our lives. How much they teach us. How imporant they are to us. And how much we love them. Don't feel sorry for us...be happy that we are so fortunate to have these amazing children blessing our lives every day.

Please feel free to share this video with friends and family...you never know when you may reach that one person and help them on get on the road to acceptance. Let them know the journey will be awesome...and the trip will be the best one they have ever taken.


You can get the link to the video by clicking here.

Special Exposure/Wordless Wednesday

Who needs toys when I've got this great box???

Read Joey's story and help support Team CdLS

As you all know, our son Joey was born in 2004 with a rare genetic condition called Cornelia de Lange Syndrome. Our lives have changed in so many ways since the birth of Joey. Therapy sessions, doctor visits and special education services have become our lives - our normal. But we wouldn't have it any other way. Joey is a bright star in our lives - he is a gifted teacher, a hard worker and a loving human being.

The CdLS Foundation has been a great resource to us. We receive an immense amount of information and support. There is always someone available to lend a helping hand or offer guidance to families who face the daily struggles of raising a child with Cornelia de Lange Syndrome.

On October 11, many dedicated individuals will hit the pavement and run in the Chicago Marathon as a part of Team CdLS. For this we are grateful. Their goal of helping to support the wonderful work of the CdLS Foundation needs our help too. This year I am participating as a phantom runner in hopes of giving back in some way all the wonderful gifts we have received from the Foundation. Below, please read Joey's story and consider giving a donation to this awesome organization and help Team CdLS reach their goal. After you have read Joey's story, please visit our First Giving Page by clicking here. Donations through this site are safe and secure. Give as much or as little as you like, but please help Joey and the other children and adults like him to continue to receive the awesome support of the Cornelia de Lange Syndrome Foundation.


Joey's story

Joey was born April 26, 2004. My husband & I already had two sons, John who was 10 at the time, and Tommie, who was 8. We had tried to have another child for 4 unsuccessful years, and had resigned ourselves to having only 2 children. Heck, we would still be spring chickens when they graduated and left home! What would we do with ourselves? Needless to say, we were caught by surprise when we found out I was expecting after all this time. We were very excited and nervous too - it had been a long time since there had been a baby in the house, and by this time the old high chair, swing, playpen(are they even called playpens anymore?), etc. were long gone. Everything now-a-days is battery operated, plays music, vibrates, and lights up. No hand cranked swing for this little one! Anyway, my pregnancy went off without a hitch, although I developed gestational diabetes and had to keep tabs on that. I only had 2 or 3 ultrasounds (and was amazed at the pictures and video you can get now) and there was no indication that anything had gone awry. The baby was growing well and we opted not to find out what we were having. We went to the hospital on Monday, April 26, so I could be induced (I was also induced with the previous kids) and our beautiful son Joseph Edward was born at 4:41p.m. weighing 7lbs. 1oz. Although he was smaller than the other two boys (8lbs.2oz, and 8lbs.9oz. respectively) he appeared to be healthy and doing well. His blood sugar was low, but this is to be expected from babies with moms who have gestational diabetes. So the happy phone calls were made to relatives and friends, my mother-in-law brought the boys out to see their new brother, my sister came to visit, and so began the whirlwind that comes after you have a new baby. I went to bed that night, feeling tired but comfortably happy, with our long awaited new baby snuggled in the nursery. The next morning when I awoke, I was gingerly getting ready to take a shower, when the doctor knocked and came in on his rounds. After asking the standard questions about me, he proceeded to tell me that Joey was doing well, but he had some pediatricians come in and take a peek at him and they think he might have something called Cornelia de Lange Syndrome. Here I am, in the ever fashionable hospital gown, towel in one hand, underwear in the other, and someone was telling me there was something wrong with my baby. Wait, back the truck up. I was floored. "What do you mean, there's something wrong? He was fine, no one said there was anything wrong with him! What is this Cornelia de Lange Syndrome, is it like Downs Syndrome? Is he alright? You think he's (forgive me here) retarded? Is he sick? Is he healthy? Will he be able to walk, talk, go to school? What's wrong with him? What are we supposed to do?" I will admit, yes, I was flipping out. Here we had this seemingly healthy, full term baby, and now someone was telling me there might be something wrong? No way. Not my kid. Not us. Not my family. The doctor went on to say that he has some facial characteristics typical of the syndrome, and that they were going to do ultrasounds and scans, and blood tests, and this and that, and can they have my permission to take his picture to send it to some geneticists? Is there anything he can do for me right now? Let him know when my husband gets here, and he will come in and talk with us. In the meantime, try to relax, and I will put you in touch with the right people. The doctor left, I am still clutching my underwear, and I must call Shawn to tell him to get to the hospital, there may be something wrong with Joey. How do I make a phone call like that? And let me tell you, it's one of the hardest things I ever had to do. Shawn answers, I say get to the hospital, they think there's something the matter with Joey. He says "What?" I say "They think Joey might be (forgive me again) retarded!" He says"What?" and we go on like this for a few minutes. Unbeknown to us, our lives had just taken a dramatic turn towards the path of geneticists, therapists, all kinds of people with titles ending in "ist". When my husband arrived, we clung to each other, tears rolling down our cheeks, he asking questions, me not having any answers. What do we do now? We had no clue. We called the nurse to have Joey brought in. We sat down and waited, trying to comprehend everything that had happened in the last 45 minutes. 45 minutes?!? Is that all it took to turn everything we hoped for, prayed for, dreamed for into a spiraling trip into a life that we had no idea would be like? Enter, the nurse, with our darling son. She must have caught wind of what was going on, because she started in on a spiel about how she'd seen babies diagnosed with something before, only to have it turn out there was nothing wrong. She was sure Joey would be fine. Is she trying to make us feel better? I suppose, in her own way. I wanted to hold Joey. I tried holding him, I really did, but all I could do was cry, and search his face for any signs of this Cornelia de Lange Syndrome, not even knowing what I was looking for. I tried holding him, I really did, but I was too scared I would find some evidence that something was wrong. Soon, I had to give him to my husband, saying I'm sorry, I just can't hold him right now. I felt terrible, what kind of mother has a precious new baby and is too afraid to hold him, afraid of what she might discover? Me, I guess. And so began my trip into denial, which I hate to admit lasted for the better part of Joey's first year of life. The doctor came in after an hour or so of Shawn holding Joey, and me wanting desparately to, but just couldn't at the time. It's hard for me to explain, but I guess I can blame it on the mind numbing fear that was racing through my body. He said they were going to do an ultrasound of Joey's brain (what?) and basically his whole body, to see what they could find. He had already been in contact with some geneticists in Omaha, and normally it takes 3-4 months to get an appointment, but he was able to pull some strings and get us in a week from tomorrow. Do we have any questions? Questions? Of course we have questions. What are we supposed to do now? Is he healthy? Can he see? Can he hear? Is he in pain? What is Cornelia de Lange Syndrome? Will he walk? Will he talk? Is he sick? What does all this mean? Where do we go from here? Joey showed no signs of distress, was good size, but was having some trouble taking a bottle. He showed some facial characteristics of CdLS, and also small hands and feet. He does not have enough characteristics to say that this is definately what he has or doesn't have. He should be able to go home tomorrow. Okay, so we have a baby that someone thinks there is something wrong with, possibly CdLS, but no one can say for sure at this point. So what did we do? The next day, we took him home of course, and tried to absorb everything that was happening. At home, we took care of him, just like we did our other kids. Only this time, when Shawn was at work and the boys were at school, I would wander around the house bawling like a maniac, trying to find some answers to something I didn't want to believe was true. When Joey was 10 days old, we took off for Omaha to have our first encounter with a geneticist. He examined him, telling us he does have some of the signs of CdLS, but not enough to say for sure if this is what it is. He has the general facial qualities, small hands and feet, only one line across the palms of his hands, but doesn't have any of the health problems that are associated with this particular syndrome. And guess what-there is no blood test currently available to recognize CdLS. Great. So what do we do now? We make a follow-up appointment and head home with this precious baby and no one can definately tell us one way or another what is going on. So, like I said, I was in a deep state of denial, but I knew deep in my heart something wasn't quite right. When Joey was about 4-6months old, we noticed that he wasn't doing some of the "typical" things a baby his age should be doing. No rolling over, no wanting to sit up, and basically falling into the good old "failure to thrive" category. When he had a check-up with our family doctor, we discussed this and he gave us a referral to our local children's therapy facility. He began attending when he was around 8 months old. Meanwhile, I will still blame denial as I had not yet bothered to reach out to any early intervention programs or do any research about Cornelia de Lange Syndrome. Oh, and did I mention that through all this, I became pregnant again? We never thought that was in the cards, given how long it took to have Joey. Our beautiful daughter Emmaletha Mae was born March 14, 2005 as healthy as can be, weighing 8lbs. 1 oz. and only 10 1/2 months younger than her big brother. Our other daughter, Abbigail Diane followed along 14 months later, also as healthy as can be, weighing 9lbs.1oz. But these are stories for a different day. When Joey was around a year old, we had an appointment with a specialist to have him evaluated for a cranial helmet, as his head seemed to be a little misshapen. Well, he didn't meet the criteria for the helmet, but this particular doctor had some experience with CdLS, took one look at Joey and declared that he had Cornelia de Lange Syndrome, no doubt about it. And I'm like okay, someone has finally told me that he definately knows this is CdLS. That's all the kick in the rear I needed. I climbed out of my pit of denial, and finally took some action. I contacted all the early intervention services I could find, and one of the most important things I have ever done was to contact the CdLS Foundation. They are an incredible wealth of information and support. Since that day, we have hit CdLS full force and done everything we can to enrich Joey's life. When the denial phase was over and done with, there was a whole new world open to us. The more we learn and share about Joey and the syndrome he has, the better off he is. We try to utilize every resource available and spread awareness about CdLS every chance we get. I do regret not being honest with myself that first year, and not getting the help we needed right away. As much as I would like to, I can't turn back the clock. All we can do is forge ahead, take it a step at a time, and pray for the best. I would like to sign off with these thoughts--- Yesterday, I took Joey to therapy, and his PT took him outside for a little workout. As I was watching them through the window, he played in the play house and enjoyed some sand and water time. And something I will never forget, she had him climbing up the stairs and sliding down the slide. She put him in the swing, and he was actually enjoying it, which is not typical of Joey because swinging is usually one of his least favorite things to do. He was laughing and smiling and playing. It was one of the best days of my life.

CdLS Family Gathering...

On Saturday, we had the pleasure of attending a CdLS family gathering here in Nebraska. We had such a good time! It was hosted by Christy and Dave, whose daughter Baylee has CdLS. There were 5 families in attendance - Vinny was the youngest at age 15 months and Beth Ann was the oldest at age 20. In the middle is Joey, age 5, Baylee, age 13 and Katy, age 15. It was so nice to get together with other families that have children who have the same syndrome Joey does. I think we could have talked and laughed and compared notes all night! We had a delicious meal and yummy desserts. It feels like we are all old friends and hated to have our time together end. Hopefully we can get together again soon! I can't hardly wait for the CdLS National Conference which will be held in Dallas in June 2010. Here are a few pictures from our time together!

Joey, John and Vinny

More Joey, John and Vinny

Shawn, Joey, John and Vinny

John and Vinny

John, Abbie, Vinny and Emma

Our family kind of liked Vinny - can you tell?

Me and Vinny

More me and Vinny

Beth Ann

Katy

Delicious food and fellowship...


Beth Ann, Katy and Baylee - aren't they gorgeous! If you look close you can see Joey flipping the light switches in the background!

Time for Thursday 13!

Holy cow! Has another week passed by since I revived my weekly Thursday 13 post! How has your week been? Ours has been good - despite a small outbreak of the sickies around here. I had to pick up Joey early from school Monday (he had thrown up) and kept him home from school Tuesday and Wednesday. But he had no fever, no further vomiting and was in pretty good shape although we did put a call into the doctor and got him on an antibiotic for a sinus infection. Unfortunately we had to reschedule a couple appointments we had for him on Tuesday...he was to have a check up with his GI doc in Omaha and we were also going to have some blood drawn from him for some genetic testing but we are doing all that next week instead. John stayed home from school on Tuesday too with a complaint of not feeling well but didn't really have any bad flu symptoms. His high school has really been hit hard with over 300 students absent in one day earlier this week. But hopefully this is all the further the illnesses go in our house - knock on wood, cross my fingers, etc., etc. Other than that, things are as usual - Tommie's 8th grade football game today, John's varsity game on Friday night and Shawn and I will celebrate our 17th wedding anniversary on Saturday the 26th. I know you are thinking how could someone as young as me possibly be married for 17 years? lol The jury is still out on whether we will get to go out on the town or not. What would we possibly do with ourselves - eat a meal that is uninterrupted and doesn't involve ketchup or kool aid? Go to a movie that is not rated G? Actually get to carry on a conversation? Oh my - the possibilities are endless! Well, enough about us - here's what you came for! The continuation of Thursday 13 - letter N!

1. Negotiate - Have you ever tried to negotiate with a 4 year old? It goes something like this:
Emma: "Mommy, will you color with me?"
Me: "Not right now Emma. Let's clean up all these toys first."
Emma: "Why?"
Me: "Because the house is a mess and we need to pick everything up."
Emma: "Why?"
Me: "Because we have to put all your toys away then we can color."
Emma: "Why?"
Me: "Because if we leave everything on the floor it might get stepped on and broken."
Emma: "Why would somebody break our stuff Mommy?"
Me: "Well, it wouldn't be on purpose, it would be an accident."
Emma: "Why?"
Me: "Because sometimes people don't mean to do some of the things they do."
Emma: "Why?"
Me: "Because sometimes things that happen are an accident."
Emma: "It was a accident we got our toys all over Mommy. But that way Joey has every toy he wants to play and he can be happy! So we better leave all the toys out Mommy!"
Me: "You're right Emma. Let's color instead!"

2. Nickelodeon - The home of some of our favorites! Sponge Bob, Dora, Diego - we know them all!

3. Notebook - I made a communication notebook that Joey takes back and forth to school. It's a great way for us to be on the same track as his teachers and keep up to date on day to day happenings.

4. Need - Joey and his CdLS friends need you to donate to the CdLS Foundation and help support the runners in the Chicago Marathon on October 11th. It's not to late! You can donate by visiting our fundraising page at First Giving by clicking here. Thank you!

5. Noise - There is usually some type of noise going on in our house - unless by chance everybody is sleeping. You get used to it - and develop a sixth sense to what certain noises mean. The flicking of the light switches, the opening and closing of the microwave, dishwasher, refrigerator or oven doors means Joey is busy. And the disaster you will find if you hear water running in the bathroom too long - it means the girls have been busy.

6. Noodles - We are a noodle kind of family - we love pasta!

7. Nursery - Do you have a favorite nursery rhyme? We like Hey Diddle Diddle.

8. Necessity - Baby wipes are a necessity in our house. We use them for everything from wiping little faces and behinds to cleaning counters and walls. I always keep some in our van too! They are great for quick clean ups!

9. Nuisance - Don't you find all those plastic ties and strings and tape inside a box containing a new toy a huge nuisance? Come on! How many does there have to be?!? We spend more time undoing all the packaging than the kid actually spends playing with the toy!

10. Neuroblastoma - I know a brave little girl named Charli. She battled a rare form of childhood cancer called Neuroblastoma when she was a baby. She is now a beautiful, thriving 3 year with great future ahead of her. September is Childhood Cancer Awareness Month. To learn more about Charli and help spread awareness about childhood cancer, click here.

11. Night - I love to look at the night sky full of beautiful stars!

12. Newton - Anybody out there love a good Fig Newton?

13. Najadaceae - Our random learning word for the week. It means: A monotypic family of aquatic plants having narrow leaves and small flowers.

Welcome to the revival!

I was sitting here thinking I just feel the need to blog today. Anyone else ever get that feeling? You know the one where you feel like you have something to say but you aren't quite sure what it is or if you find out what it is you want to say you aren't quite sure how to say it? Exactly. So here I am feeling this way today and I think hey - it's Thursday! And what goes with Thursdays? 13 of course! I dig in my blog archives and find my last post of alphabetical Thursday 13 was in June with the letter L. Why did I stop you ask? Well, I'm not quite sure exactly. A lot of things were happening around that time and I guess I kind of lost the enthusiasm for the good old Thursday 13 posts (sometimes entitled Friday's Edition of Thursday 13 if you recall). Now I am thinking to myself if I would have kept up with them and my calculations are correct, I would have, should have, and could have been on the letter X this week. But why dwell on all that - right? So, you are all cordially invited to today's revival of my Thursday 13 posts which occasionally may come on Fridays. And I am not going to start over with the letter A. If you want those wonderful, witty lists you can go dig in my archives. My post, my rules - correct? lol So here we go...fun with the letter M!

1. Mystery - Are any of you familiar with the Dum Dum suckers? You know the little ones that come in a bazillion flavors and nobody every eats the popcorn flavored ones? Anyway, today I grabbed two Dum Dum Suckers for the girls when I picked them up from school. One was blue and one was mystery flavor. You'd think mystery flavor would be fun - right? Not right. Not where Emma and Abbie are concerned. They both wanted blue, Emma ended up with it and Abbie screamed all the way home - "I don't want Mystery Mommy! I want blue!" Note to self: Always take the same colored suckers to the girls. And also: Dear Dum Dum Sucker Company, When packaging your suckers, would you consider putting the same color suckers into different bags? This way my girls won't fight over which color they get and I won't have to pull my hair out. Thank you.

2. Music - Joey loves music! Whether he is playing it or hearing it, music is his thing! He also has quite a good rhytmn when he bangs his hands on stuff!

3. Mopping - Hate it. Totally Shawn's job!

4. Marathon - Team CdLS will be running in the Chicago Marathon on October 11. Please consider donating to my phantom run to help these awesome people out. Visit our donation page by clicking here.

5. Miracle - Miracles are happening every day. Make the most out of them.

6. Motor - We had to get the passenger side electric window fixed on John's car cause it didn't work right. Apparently there is a motor in there that was done for. You'd think this would be fairly inexpensive. That's what I was thinking anyway. $300 later I'm thinking not so much.

7. Macaroni and cheese - One of the few edible items all our kids agree to eat.

8. Mountains - I would love to take a long, relaxing trip to the mountains someday.

9. Missed - Tommie was sick and missed 2 days of school this week. Hopefully it stops there and the rest of us don't get it!

10. Mother - Being a mother is the hardest job I've ever had. But definitely the most rewarding!

11. Montana - The girls love Hannah Montana. We saw the movie this summer - it was actually pretty good! The last movie soundtrack I probably bought was Footloose or Purple Rain. A couple weeks ago I purchased the Hannah Montana Movie soundtrack. What have they done to me???

12. Money - Our two teenage boys seem to think we have a money tree growing in the back yard. News flash boys - money doesn't grow on trees! For example John came home tonight and asked for money to put gas in his car. We ask "Do you have any money?" He says "Yeah - 20 bucks. But I don't want to use it for gas!" Of course not. How silly of us.

13. Madrepore - Our random M word for the week. It means: corals having calcareous skeletons; aggregations of which form reefs and islands.