So Thoughtful!

I got home today to find a package awaiting in Kendal's name. In excitement we opened the package to find these two beautiful bags. The hippo bag is a lunch bag that is insulated. The other bag is a great lightweight backpack that Kendal can use for years. I received these from one of our great customers at work. Every time I talk to them, they ask about Kendal.

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Do you see why I enjoy my work so much?? I work with so many good hearted people that I thoroughly enjoy. God has blessed me beyond belief!

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I wanted to let everyone know that they can order any embroidery, quilting, or monogramming from these amazingly sweet people. I think they have a large selection of different designs, fonts, etc.

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***RKE Designs*** 615-654-9919 home, 615-498-8846 cell (Eric & Rita Campbell).

Do you see anything wrong with this?

This morning the Occupational Therapist worked with Kendal using scissors. Aren't we supposed to keep scissors away from toddlers? Apparently using scissors is a 22-month skill. Are 2 years olds really using scissors to cut stuff? I told Sue (OT) that I wasn't so sure about this new "skill". And getting her to tear pieces of paper - what is all that about? Sue says that it makes her isolate her finger movements and also helps work her wrists. I never really thought about all the different movements that we make actually work so many muscles. It's truly amazing how God created us.

All her therapies are going so well - TEIS (Tennessee Early Invention System) has really been an amazing resource for us. I know that because we acted so quickly, Kendal has made huge strides over a relatively short amount of time.

Wringing Kendal's Neck

I'm sure most of you moms out there have been tempted at some point to wring your child's neck. That has been my feelings for the last several days. Kendal has been having some behavioral issues that we are having a hard time dealing with. If you have any advice, please leave a comment. I am open to any suggestions.

Kendal has recently started slapping me in the face. Now anyone that knows me, knows that is not a behavior that I would put up with. I consider myself fairly strict with Kendal and have become more and more aggravated because I cannot control her as easily as I used too. Granted, probably some of this is just being a 2 year old and testing the waters, but I have questioned whether this behavior has been seen with other Angelman Syndrome kids. I know that a characteristic is swinging/flapping arms and didn't know if this had anything to do with Kendal's behavior.

She slapped me continuously and each time I would tell her no, slightly restrain her, explained that it hurt mommy, and showed her to love mommy by rubbing my cheek. As soon as I would let go she would again slap me. It was as if she had NO control over her arms - that they couldn't stop swigging. After talking with several people (thanks!! Doris, Shirley, and Donnetta) I have gotten some really great advice and will try the technique of immediately putting her down or getting away from her and not looking her in the face. Terry Jo (Visiting Scholar @ Vandi - AS expert) as advised me NOT to look at Kendal in the face when dealing with these issues. I guess it is because Kendal is so social, it will have a much greater impact to NOT look at her so she will know that I am not pleased and that the behavior is unacceptable.

James has not been submitted to this until tonight and he just his first dose of it. I will tell you that it is truly the most frustrating thing. I wonder how much of this behavior is out of frustration or anger on her part. Most kids her age will tell you whats wrong - Kendal, at this point, does not know how to express these emotions and I'm terrified that these behavioral issues will just get worse down the road.

Terry Jo called me this morning and discussed an additional option on testing for the Imprinting Defect as a mechanism that caused Kendal's AS. She informed me that there are only 5 labs in the world that do this specific test and she felt like it was something I needed to pursue. The physician that is heading up the research study is going to look over Kendal's reports and give us his 2 cents on what we should do. Terry Jo explained that because Kendal's methylation test showed abnormalities indicating AS, that we should be able to find those abnormalities through lab reports. The geneticist had basically told me that there is nothing else they can do and they cannot give me an exact mechanism that caused Kendal's AS. I am, however, more apt to listening to Terry Jo because Angelman Syndrome is her life and all she studies about. The geneticists, while very helpful, are not as familiar with AS because they are dealing with so many other genetic disorders and don't see AS very often.

Terry Jo should be getting back with me soon regarding her advice. Also waiting to hear back from Dr. Barnes (neurologist) on her EEG results. We also have an appointment Tuesday (9-2) afternoon to see a sleep specialist. Knowing Kendal, if we had a sleep study, she would do amazingly well and the doctors would look at me like I'm crazy. It certainly won't be the first time that has happened!!

Kendal Eating

We have been working with Kendal on her eating. It has been a little difficult in the past due to her delays in fine motor skills. But as she hones these skills, she is getting better and better on self-feeding.

An answer from the Geneticist

We finally heard back from the geneticist concerning the last round of testing on Kendal. This is what we have learned....

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There are several genetic mechanisms that cause Angelman Syndrome:

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1. Deletion (not sure if this is the deletion of chromosome 15 or a deletion of genes on that chromosome)

2. Uniparental Disomy

3. Imprinting Defect

4. Gene Mutation

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We have so far tested for deletion, uniparental disomy, and gene mutation. All these tests have come back normal. The next logical thing to do would be to test for the imprinting defect, however the geneticist explained there are no tests to run currently to determine if this was her cause. She further explained that 10%-15% of Angelman kids have no identifiable molecular abnormalities. Would it be a surprise to anyone if Kendal was in that group?

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The first thing I asked her was if they were sure she even had AS. She was very adamant that Kendal has Angelman's primarily because her methylation test came back abnormal indicating AS. She said that the test alone is so comprehensive that it is used for diagnosis purposes. She also referred back to the many clinical characteristics that Kendal has that are in line with what you see in Angelman Syndrome. She assured me that Kendal was diagnosed correctly even though we cannot get the exact mechanism that caused this.

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The main reason for finding out all this information (as it does not change anything) is to learn about recurrence risks in subsequent children. Because they are unable to put their finger on the exact mechanism, they have advised a 1%-50% recurrence risk.

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It's funny because me and James have not really thought much about the recurrence risk. I think with both of us, it really doesn't matter much. Kendal is such a great daughter that fully enjoys life and interacting with people. She loves so much and she is loved so much. We couldn't ask for anything more.

Foreign Feelings

Today was unusual, not for any specific reason besides the fact that I began to think more about Kendal's condition and how she might seem a little different from her peers. As much as we have going on with the therapies and doctors appointments, I sometimes forget that Kendal is different in her own way. Because this crazy schedule is all I know, I forget that not all children have to go through these things to gain new skills. I guess I just don't pay much attention to Kendal's differences anymore (1) because it is usually a waste of time and (2) it will drive you totally crazy. But what got me thinking this morning was the sweetest little act of kindness....

I took Kendal to daycare this morning and she is still somewhat struggling with the drop-off procedure. She cries and I feel awful but of course after I leave I know that she does fine. As I was trying to say good-bye this morning, a beautiful little girl in Kendal's class came up and said, "Hi, Kendal". It was so sweet and so thoughtful to greet Kendal when she obviously was struggling with adapting to her new daycare. I went ahead and left for the day and continued to think about the little girl that said Kendal's name just as clearly as I do.

I think I forgot to some extent that children that age have begun to talk. Now don't get me wrong - I did not feel sad. I just felt weird. This feeling was totally foreign to me. Nothing I could specifically put my finger on. I guess just a true realization that Kendal is different. A true realization that I don't know what the future holds for Kendal, or what God has planned for her, or the magnitude of how she has changed my life in ways that I cannot yet understand. I long to hear Kendal talk. To say, "Look, Mommy" or "I Love You". Whether she says these things in her life or not, it will not change the enormous gratitude and love that I feel for God who has blessed me with this child. It truly, truly humbles me...

Kendal's EEG

How the Night Unfolded...

It was a long night, but it's finally over and done. We got to Vanderbilt about 7:30 last night and wondered around for 15 minutes trying to find where we supposed to be. I had completed a consent form and forwarded it to the lady in charge of the research study and she had forgotten to drop it off at the Clinical Research Center and they obviously could not do anything until they had the signed documents. After several phone calls and scurrying around, we ended up logging into our email at home and printing another consent form off and resigning. Finally, at 9:15, we began the test.

As you can see from the photos, Kendal tolerated the wires very, very well. Once we got her all hooked up (with over 40 sensors), I got in the bed with her and tried to get her to go to sleep. She would begin to doze off and then she would startle herself and wake back up. I promise she must have done it 15-20 times. I was really glad that she did this during testing because I have always had a little concern over this and it also may explain why she has had sleep issues all along. After about an hour, I switched places with James and he took over. Of course with her daddy, she did much better and they were happy with the amount of readings after about 15-20 more minutes. I am anxious to see how the test results come back. I hope the doctors can give me more information on these "startles" that she continues to have and maybe a treatment as I am thinking this might have been the problem all along. When she wakes up at night and tries back to fall asleep she keeps startling herself awake. This is just a theory but hopefully we will gain some insight into it.

The sticky stuff they put in her hair was awful this time. It went on like an oily Vaseline and dried to the consistency of a hard ear wax. We did 3 hair washings at the hospital and I will do another this evening to try to get the rest out. We finally left Vanderbilt at 11:30 and got home at 15 after midnight. I went ahead and gave Kendal a snack and milk and she went quickly to bed - that is for about 90 minutes. She woke back up around 2:30 and probably didn't go back to sleep until 4:00 and then slept till 8 this morning. I figured the disturbance in her schedule would throw her totally off and I'm so glad I did not have to work today.

She is taking a nap now and will hopefully get back on her regular schedule. Thank goodness we don't have anything else going on this week. I pray it will be boring!!

A Hard Week for Kendal

Well, I finally have the video on here thanks to James and the work he put in to get this thing edited. I took this video last week and it shows the progress that Kendal has made in her verbal sounds and her signs. Suzanne, the speech therapist, is totally awesome and truly loves what she does. Since she has came into our lives, Kendal has made tremendous progress. Suzanne is one of the most determined people I have worked with and she KNOWS that she will get some words out of Kendal, even when I sometimes have doubts.

It has been a week since the last post simply because Kendal has been sick and now me and James are feeling the effects. I took her the doctor last Tuesday and they said she just appeared to have a viral infection. Things seemed to get much worse Wednesday and Thursday and finally on Friday I took her back. She had an ear infection, sinusitis, tonsillitis, and strep throat. Of course at the doctors office, she acted like her usual self - as we walked to the examination room Kendal giggled, laughed, and squealed. I asked her politely to please act sick--

This week we appear to be back on schedule for the most part. Tomorrow evening we are going to Vanderbilt for an EEG as part of the research study Kendal is involved in. We are anticipating not being home till 11:00 or later so I am taking off of work Wednesday to recover from the late night I will probably have with Kendal. She loves her routine and really seems to struggle when we throw a wrench into her schedule.

I wanted to give Regie and Yolanda Hamm a big congratulations on all their recent success. Please check Regie's blog (on the side bar) to hear their story. We met them first over the phone after we got Kendal's diagnosis and then we got to meet them at the Angelman Syndrome Walk-A-Thon. Their daughter also has AS and they have been so supportive and have always lent an ear when we needed one. Regie recently won the American Idol Songwriter Contest and his winning song was also played at the Olympic Opening Ceremony.

It's August Already???

I can't keep up with the months anymore. They are flying by this year! Not much has gone on this last week. James had this past weekend off so we spent time around the house hanging out with Kendal. Saturday was nice and we went outside and played with moon sand and finger paints. I tried not to freak out about the mess and just enjoy it. I know Kendal loved it.

Dr. Barnes (neurologist) has advised to go ahead and get Kendal in a sleep study. He indicated that it is normal for kids with Angelman Syndrome to go through phases of good sleeping and bad sleeping. They have scheduled her an appointment for the first week in September. I really dread doing it but I know next time she has another bad sleeping phase I will have wished that I did the sleep study.

I had to pick up Kendal from daycare today and take to the doctor due to fever and a possible ear infection. They stated it was probably just a viral infection going around and they prescribed a steroid to help clear up the inflamed throat. Nana will be watching her tomorrow (thank you!) which is both good and bad. Good in the fact that Kendal will get to spend time with Nana. Bad in the fact that Nana spoils her to death and she probably won't want to come home with me.

I called the geneticists today to try to get an update on the latest tests to determine if Kendal has a mutation of a gene on the 15th chromosome which would be the cause of her AS. I'm sure the people hate me in the doctors office (it has been 4 weeks since they were to run the test and I still haven't heard a word), but I have learned to be extremely persistent about things especially when it comes to Kendal. We have to fight for what we think is best for our kids. I think that God has literally suited me up with battle armor sometimes because I feel like I sometimes have to go to battle to get things handled correctly. It is just the price we are willing to pay for our children.

I've included some pictures of Physical Therapy from this past week. Kendal, as usual, had a ball.

Hopefully in the next couple of days I will have a video link of what Kendal is working on in Speech Therapy. Stay Tuned!