1p36 Conference in MN & Doctor Appt Updates

Our sweet little Alayna...curls & a smile!

Jacoby and Jakub at the 1p36 Conference.

Lily literally runs around everywhere & we love her glasses!

Maya is getting so big! She is one beautiful little girl.

This is Beth and she is 45 years old. She was just recently diagnosed with 1p36 Deletion. She had been misdiagnosed with Prader Wille Syndrome for all that time. She is one lovely lady.

This is where we stayed at Bethel University...yep, in the dorms!

Dana and Alayna!

This was our sleeping arrangements!

Alayna got the pack-n-play!

Alayna getting ready for day #1 of the conference.

This is on the way to the conference in the car.
Getting sleepy!
Oh thank God, she finally gave up! I don't have any photos of her screaming her head off....I thought I'd spare everyone...LOL. Alayna DOES NOT sleep well in the car.
This is all of Alayna's stuff for the 2 day trip to MN! Yep, everything is packed but the kitchen sink.

5th Annual 1p36 Deletion Conference - St. Paul, MN - Bethel University

As most of you can probably relate, packing for an infant is a lot of work! Especially when you are taking a trip. Alayna isn't an "infant", however, she requires all of the same stuff an infant does. The photo above is just HER stuff. There is so much to think about like what we will feed her (she doesn't eat McDonald's yet...DARN), diapers, wipes, where will we give her a bath, do we have a highchair, where will she sleep, do we have her medicine and tylenol, and do we have the KidKart? It took me longer to pack for her than it did myself! But it was very well worth it!!

We arrived in St. Paul around 10:30pm Thursday, July 14th. We stayed in a dorm on campus. This was so nice because it was so cheap and it provided us a "retreat" type feeling with the other families. All of the 1p36 families had 1 whole dorm to themselves. The dorm rooms were not anything like I lived in when I was at Illinois State! This dorm room was meant to sleep 6 students and it had 3 bedrooms, a living room, a toilet room, 2 sink room, 2 shower stalls, and a kitchen area. It was like an apartment and if I were a student at Bethel I'd love it! The only thing it lacked was a TV....forgot about that! But thank goodness we brought the laptop.

The speakers did an amazing job and thanks to Beth for making the conference wonderful! It is a big job and individual families just volunteer to take it on and organize it. There was a moment when all of the attendees stood up and introduced themselves and their child. I counted that 26 children were represented by the families. 18 out of the 26 families had children that were 8 years of age or younger. I found that interesting! I enjoyed meeting the new families and seeing the ones we have met over the past 5 years. Dana and I are so thankful to have been able to attend 4 out of the 5 conferences. I have to give thanks to the ARC of Illinois as they have provided stipend money to our family each year to help us with expenses. Without the help from ARC I don't think we would've made it to as many of the conferences as we have.

Next year the conference is moving south to Gatlinburg, TN! We plan to attend and enjoy those Smoky Mountains. Fortunately, my family has roots from Knoxville, TN so we are hoping to get a family reunion going at the same time.

Neurology Update - Iowa City

Two weeks ago, Alayna visited her neurologist in Iowa City. The wonderful news is that Alayna hasn't had a visible seizure since August of 2008. So, by the doctors recommendation we have been in the process of weaning her off the phenobarbital (medicine to help with seizures). Last night was her last dose!! Please say a prayer and keep your fingers crossed that Alayna doesn't re-develop seizures. It is always a risk to children with this syndrome, so we just don't know. If things should develop, we'll just call the doctor and she will prescribe something else besides phenobarb. But I am truly hoping that this doesn't happen and that Alayna will be seizure free!!

At that neurology visit, her doctor made a referral for us to see the Center for Disabilities and Development at the University of Iowa Hospitals. I was thrilled! So, on November 30th we see the following disciplines: Social work (30 min), Physical Therapy (60 min), Occupational Therapy (60 min), Audiology (60 min), Psychology (120 min), Medical Staff (60 min), and speech/language (60 min). Oh my gosh is all I have to say!! I may need some medication myself for that visit! That is going to be one very long day, but it will be so nice to have the doctors working with Alayna housed under one roof. My main concern at this time for Alayna is her behavior and PT/OT development. I'll keep you posted.

Developmental Pediatrician - Peoria, IL

This past Monday, we traveled to Peoria to see Alayna's developemental pediatrician who has seen her since she was diagnosed at 11 weeks of age. Overall, he was pleased with how things were going. Unfortunately, I can't say that a whole lot has dramatically changed in the year that we last saw him. Alayna is making strides in gaining strength, sitting, and bearing weight. At this appointment I told him that my main concern at this time is Alayna's behavior. She is very unconsolable, will cry for long periods of time, doesn't adapt well to change, doesn't like being in crowds or unfamiliar places, etc. So, Alayna is now trying out a medication called Diazapam which is generic for Valium. It is used to treat anxiety and it isn't at all uncommon that children with special needs use medication to help improve their behavior. She got her first dose last night. We are starting with 1/2 of the prescribed dose first and seeing if we notice a change. If we don't then we will increase it to the full dosage amount prescribed. We return to Peoria in 3 months. I'll keep you posted on this too!

Pediatrician - Dr. Neptune

Yesterday we went to visit Dr. Neptune who is our local pediatrician. Alayna is now weighing 27 pounds and is 37 inches long. He couldn't believe how strong she was! And for those of you who don't know Alayna, she is strong! The reason why she isn't yet walking or crawling has very little to do with strength and muscle developement, it is all in the brain! Her wires aren't making the connection yet on how to do these things. I have the faith though that someday she will walk! It just takes Alayna awhile to learn things and repetition is the key. Alayna also received 3 of her "kindergarten" shots so we wouldn't have 6 next year. She cried so much while he was checking her out that she fell asleep on the table and she slept through every single shot!! I was so happy. Oh and so was Lexi and Douglas!

Potpourri

Since the conference, I decided to get Alayna's Baby Signing Time DVD's back out again. I had bought 2 of them awhile back but she never paid attention to them. Now, she is in LOVE with the one I keep playing over and over. It's all about repetition and I hope that she picks up on some signs someday. It's definitely helping all of us learn the signs too. Even Douglas is using them to talk to her!

Alayna starts school next Thursday! Her summer is nearly over. She attends school on the "year round" calendar. I think she is looking forward to it, even though she can't tell me. It just seems like she is getting bored here at home and when I ask her if she wants to go "bye bye" she lights up with excitement. So, I'm sure that first bus ride will be fun for her!

Since Alayna is bearing weight so much better I plan to ask her PT at school about getting a gait trainer/walker. I think it would be wonderful to have another option for her at home.