Holiday Time!

Alayna sitting in front of the tree. I still don't think she'll get into unwrapping presents yet.

Hum...finger in mouth still. She very much needs that oral input whether it be from her finger, a blanket, a rubber toy, etc.

She fell backwards! Still not able to sit for a long period of time without assistance, but it is getting much better.

Getting ready to go to a family gathering at Grandma & Grandpa's house with lots of cousins!

All smiles! She just doesn't like to make eye contact with the camera.

She fell backwards again and sometimes I wonder if she does it on purpose. She giggles and thinks it is funny! Maybe it provides some kind of fast sensory input of something!?

This is Alayna in her kidkart at her preschool Holiday program. Every student in her class is in a kidkart of some kind and they are non-verbal. Each one had their own aid helping them with the program.

This is Alayna and her classroom teacher, Ms. Renee. We love her! She is so patient and kind.

Santa was there to visit with the children! However, as you can see Miss Alayna wanted NOTHING to do with him or at least while on his knee.

So, we tried it in a different way! She was more content with Santa while she sat in her kidkart. I'm glad I at least got 1 photo of her and Santa without her screaming!

They decorated each of the children's karts. The song they paraded to was called "Hippopotumus for Christmas." So, that is what the purple thing is peeking out of the gift box on her cart! It was so cute. I wondered how they did a program for kids that were non-verbal. They pushed each child up and down the aisles in the gym while the song played. The kids loved it! Most of them are very musical and enjoy those kinds of things. The movement in the karts helped keep most of them content too.

Here is Alayna and a few of her classmates. As you can see, they provided her with her blanket for comfort and her favorite toy book.

Wow, it's been a LONG time since I've updated her blog. I think part of the reason is being extremely busy with activities of all kinds, in addition to Facebook. It seems as though that has opened doors for communcation with friends, family, and our 1p36 family.

First, happy holidays to you and your family. We have been blessed this year in many ways. Alayna is healthy and never once had any major illness of any kind. Minus a few runny noses she has had a clean bill of health for the year. We hope that 2011 brings us these continued blessings. Alayna has met her goals set at her school one year ago. We have set new ones for her to achieve, focusing on sitting, transitioning into sitting, chewing munchable foods, and manipulating switches and buttons. She has been adjusting to school well, but to be honest it is a very long day for her. She gets on the bus at 7:45am and gets dropped off at 2:30pm. Hopefully over time, Alayna will do better with managing her "tiredness" and not getting cranky as much as she still does. Alayna exhibits many "baby" behaviors as I like to call them. And naptime is stil a necessity and sometimes it is still 3 times a day!

Sorry for such a short post, but not too much has changed! We just keep chugging along and go about our usual days one at a time! Season's greetings to all of you and may God bless you all in 2011.

Alayna's New Bedroom!

This is Alayna's Paparazzi! These are her siblings: Drake 10, Douglas 6, and Alexis 12. It isn't the easiest job to be a brother or a sister of a disabled child, but these three love her to pieces. Many of us 1p36 families have more than one child and most would agree that their other children are the best siblings to their 1p36 child! The best moments are when they get Alayna to giggle and their faces light up or when they are just cuddling with Alayna and giving her that one-on-one attention. Precious....

Well, my dining room table was evicted and Alayna moved in! We completely changed the look of our dining room so we could make Alayna her own bedroom! She needs her own space where it is dark and quiet. We stripped off the wallpaper, took down the Terry Redlin's and the chandelier and in their places we had it painted by Melissa (who does marvelous), installed a ceiling fan, trimmed the room with oak chair rail, installed solid oak french doors with a glass transom, added new room darkening curtains in two colors, moved in a new bedroom set, and added the pink and brown bedding to make it complete. WE ALL LOVE IT! At first, the other kids would say "Why does Alayna get the best bedroom in the house?" I told them it wasn't any "better" than theirs, it was just Alayna's was CLEAN!!

It's a sleigh bed with a high headboard. However, the footboard isn't as high due to the nice new thick mattress Alayna gets to sleep on. So, we have had to improvise a little to make sure she doesn't fall out. I purchased the two extra tall and extra long side rails from Walmart online. They are wonderful and I highly recommend them. We had 2 others here already, but they were too short and not very long. Then at the end of the bed we put a long body pillow against the foot board to protect that end. And she has tons of pillows, so we put those all around to enclose the space. I think she likes it because she feels secure in in. Best thing we ever did!!

This is her view from the inside of the room looking out into our foyer. I still need to get fake doorknobs. The doors are spring loaded and I like that. And since they are solid, they block out so much noise...it is amazing how much a door can help with that! All of our trim and doors throughout our house were custom made by Keith Gorham. He does amazing work too.

"Laugh Dream Smile" Isn't that what it is all about?! Alayna doesn't have a closet in her room, but she has plenty of drawer space! We just borrow a tiny corner in sister Lexi's closet for the stuff that needs to be hung up. She doesn't mind now that Alayna has moved out! Lexi now has her own room again.

Alayna is the only one sleeping on the main level, but we are literally at the top of the stairs. I still have a monitor on at all times. So far, she has been sleeping really good. I think she has woke up in the middle of the night maybe 2 times since early August. This may me really good for Alayna in the future when she starts to be more mobile. That way she doesn't have to climb stairs to get to her room.

The two things on the chest of drawers have special meaning to Alayna and me. The two Raggedy Ann dolls were handmade by Alayna's great Aunt Linda (the kids call her Bella). It is a mini version of the large one she made me as a child. She has 2 dolls because she stole Lexi's from her room! And the name plaque was needle pointed by Alayna's first babysitter, Lori. It's beautiful too!

So, How Does A Little One Get 1p36 Anyways?

1st Day back at school - sitting big on the couch so I can get at least one picture

Loaded up on the bus - one of the most enjoyable parts of the day for her
Sitting, waiting patiently for the bus to get to her house!

Waiting for her breakfast, which is oatmeal literally every day. She loves it!

How did this happen?

I've had many people ask me this question, so I thought I'd touch base on it in my own words. Or at least how I've interpreted the information from Dr. Shaffer and other medical professionals I've listened to. Alayna has a chromosome deletion syndrome. In her case, she has the tip of chromosome #1 missing, hence why it is called a deletion and why it is "1"p36, "1" referring to chromosome 1. The "p" stands for the shorter arm of the chromosome because there is a longer arm too. The "36" refers to the strand of the chromosome, which honestly is very technical and scientific for me to sometimes understand.

Since it involves chromosomes, it is genetic. But, not everything genetic is inherited to each offspring produced and sometimes genetic things don't even mean that the parents are "carriers." Some people have asked if Dana and I were "tested." The answer is yes, we had blood drawn and also sent away to Signature Genomics. There, Dr. Shaffer performed what is called a microarray test on all of our blood allowing Alayna to finally get a diagnosis and to determine that we are not "carriers" and nothing is "wrong" with our chromosomes.

So, how did this still happen? Well, Dr. Shaffer has researched and concluded that this deletion occurs PRIOR to conception. What does that mean? It means that it existed prior to the sperm meeting the egg. Basically, either the sperm or the egg were "broken" already. It has been shown that with larger deletion sizes of chromosome 1, the sperm was likely the carrier. With smaller deletion sizes, like Alayna's, it has been shown that the egg was more likely the carrier. I had a "broken" egg slip through and it was the one fertilized. Isn't that interesting and yet slightly scary at the same time?

Next question: How did I have a broken egg? This is the toughest question that Dr. Shaffer would love to answer. She is investigating why do chromosomes break to begin with? I'm not sure we will ever know the answer. When a baby girl is conceived, she has all of the eggs she will ever have at birth. When a baby boy is conceived, he won't have any sperm until he starts puberty. Maybe it is environmental? Maybe the birth mother was exposed to disease or severe illness? Who knows?

So, basically I was born with this "broken" egg that just so happened to be fertilized and produced our wonderful, little girl Alayna. I find it fascinating and I do believe God had a plan over and above my plan.

Last question: Will my other three kids have a more likely chance of having children with this syndrome? The answer is no. Their likeliness of having a child with 1p36 is no greater than the general public which is estimated to be 1 out of 5,000 births. And just in case you were wondering, right now the only way to determine this in utero is to have an amniocentesis done and have a microarray test of the fluid.

During my pregnancy with Alayna, I had every test performed including the Triple Marker test and many ultrasounds. Everything seemed fine. However, looking back now one thing I had in common with most of the other 1p36 moms is that the baby stopped growing. I never measured beyond 35 cm even after the 35th week. This signified that Alayna stopped growing around 35 weeks. She was born at 6 pounds 2 oz while my other three children at full term ranged from 8 pounds 10 oz up to 8 pounds 15 oz. And Alayna was full term too.

I believe that obgyn's and pediatricians need educated about this syndrome. They need to know what to watch for and what possible red flags may come up during a pregnancy. I've been in contact with many medical professionals and they just don't know about it. It is frustrating as hell. They need to be able to recognize some of the facial characteristics of the babies and other common problems that these little ones face like respiratory, heart, and feeding issues. This is why the Pepsi Refresh Project pulls at my heartstrings. Our main goal as 1p36 Deletion Support & Awareness is to educate the medical community, as well as the general public, about this syndrome. Please help us by voting at www.refresheverything.com/1p36 and text 101439 at 73774 (pepsi). You can do both and we need you to vote everyday this entire month of August. Thank you for supporting this cause that means so much to me and my family. If we are able to help families get the right diagnosis and get the right protocol for their child we have succeeded.

I hope I have given you a little insight as to how our little Alayna came to be the way she is....perfect.

Conference, School Starts, Bedroom

Alayna spent a good amount of time in the stroller and she was a trooper.

Alayna on one of the flights! Thank goodness for light up toys & her Ipod Shuffle with the Spongebob & ICarly theme songs on it!

Whitney wanted to see Alayna's toy! Alayna held on for a second, but nicely gave it up. She isn't too protective of her toys (yet)!

Alayna & Vera

Brady & his mom

Vera (if I remember correctly she is almost 2)

Evan (9 years old)

Aiden (almost 3)

Eric (8 months)

Taylor (I think 7 years old)

Zoe (3 years)

Merrick (around 2 years)

Joseph

Paige (around 5)

Tru

Bella (not 2 yet!)

Whitney (6 years)

Kaylee (2 years)

Sweet Alayna (3 years)

Callie

Sammie (3 years)

Kate

Abby

Eyes are sleepy.

Us with Rachel Coleman.

Rachel Coleman from Signing Time.

Alayna enjoying relaxing in the hotel room.

Oh the mountains were beautiful!!

This is Drake's latest contraption! It's a hinged cast that can be locked in place. Many have been asking about it, so I decided to sneak a photo in on the blog. He is doing well, getting more range of motion back, and we report back to Iowa City on August 10th. Hopefully it will come off! This summer has not been a good one for Drake at all.

4th Annual 1p36 Deletion Support & Awareness Conference - Salt Lake City, UT

Well, airplane rides are obviously not one of Alayna's favorite things to do. Thank goodness for her toys, blanket, and Ipod. They all helped (at times). However, there were moments of non-stop fussing/screaming/crying where all Dana and I wanted to do was crawl under our seats. Most people sitting around us were very nice and tolerated it well. Only a few glances and stares, but I think they were out of "feeling sorry for her" and not out of anger. It's tough. Alayna is non-verbal and can't communicate. I do think that her ears bothered her a few times, especially on the smaller planes from Chicago to Moline. We've concluded that flying with Alayna isn't easy and if we have to do it again we will try for a direct flight. The long layovers in Chicago were a killer.

When we arrived at the hotel we were greeted by Callie and a tribe of 1p36 families that were in the lobby! It was a nice welcome to see familiar faces as well as a few new ones! I apologize now for missing some of the kids photos. I know I didn't get a picture of Gavin, Molly, Ashlyn, Shay, 2 of the quadruplets, and maybe a few others. Sorry! While we were there we ate dinner out 3 nights in a row with different families. That was wonderful. We also had a girls night out with the mom's to Biaggi's. Again, another awesome time. The dad's did breakfast one morning too.

The conference started with a presentation from Rachel Coleman. She is the founder of Signing Time and they sell amazing DVD's to help families learn sign language. It has also been on PBS in the past. I plan to get the beginning DVD soon for our family. I enjoyed this and wish she would've stayed longer! I need a teacher to teach me signs. She explained how to remember the signs and makes connections with music. Dr. Shaffer, the leading researcher of 1p36, spoke as well, but I'll be honest when saying a majority of her presentation hasn't changed over the 4 years. I know research on chromosomes is difficult, but I just wish there was more to report. I did find it interesting though when she said Signature Genomics diagnosis 1-2 cases per month over the last year. The remainder of the speakers consisted of representatives from a Communication Devices company and The Listening Program and a panel of therapists.

There were many new faces this year, including two mothers of gentlemen that are 20 and 31 years of age. Neither had ever met another child with 1p36. They volunteered to do a question and answer session and I found that to be the most interesting. Neither of their children live at home anymore for various personal reasons that they shared with us. I think that this discussion brought to the forefront the possibility of everyone in that room with younger children to someday have to make that most difficult decision. I don't think any of us want to think about that at all, but the reality of it is it could be a decision we have to make later on.

I found it fascinating too how much of a range of abilities we have with our kids. Even though they all have the same deletion, each one is unique in their own development. Some are sitting, some are crawling, some are walking, some eat and some don't, and some can communicate and some can't. This is tough for many of us parents to see, it really is. Especially since so many of our kids are close in age. What makes them all so different? And at different levels of development? This is a question Dr. Shaffer continues to research. And because I am human, I wish Alayna's developments were right along side some of the kids. But I must be patient and continue to work with her. I do believe that Alayna lacks the motor planning to get to the next step and this is why everything just seems to take her forever to grasp. Right now, sitting is the biggest priority we have and she is doing much better with it.

Next year the conference is scheduled to be held in Minneapolis, MN. We will definitely be going and toting all of the kids along! It is a drivable distance for us which makes it tons easier with Alayna. For some reason, she enjoys the van better than the airplane!

School Starts Tomorrow!!

Well, Alayna's summer break is over today. She heads back to school tomorrow! She is going to need patience because it will take her time to readjust again. No more 2 hour naps in the afternoon. Her school, called SKIP (Special Kids in Preschool), has become an entity of HMELC (Horace Mann Early Learning Center). The location changed and it is now in Rock Island. So, a new school year, a new school location, and a new building require us to be patient with Alayna as change isn't easy for her. Ms. Renee is still her teacher though and I am so happy about that!

New Bedroom!!

Finally, Alayna got to sleep in her new bed last night for the first time! I will post pictures when it is all done. I still have some little touches to do and tonight the french doors are to be here. She didn't do to bad except was woke up by the storm at 4am. Hopefully tonight will go better, she has a long day ahead of her tomorrow!