Tuesday, December 23, 2008

testing

I forgot to mention the audiologist said all tests were normal.

Monday, December 22, 2008

ABR, ASSR, and hearing test under IV Sedation

On Friday, December 19, Sadie had an ABR(auditory brainstem response), ASSR(cochlea processing), and hearing test all under IV sedation.
The day sucked. The weekend wasn't much better.
We arrived at the hospital at 9:30am. As usual, we head to the registration department so Sadie can be admitted to the hospital. She was given a hospital bracelet, we have to confirm her name and birthday because they are sedating her for the testing. Her little tummy was growling in the waiting room because she wasn't able to eat or drink before the sedation.
By 10 we were escorted to an exam room where her vitals were taken. The nurses, one by one, start to come in and ask us questions to get prepped for the testing and IV. The doctor comes who is monitoring Sadie during the sedation to ask more questions. Usually the same questions are always asked. I'm starting to feel like a robot answering... It takes 3 nurses, me at her head, and Bill holding her head, and the IV nurse to pin her down in the blanket burrito to get the IV in her hand. It is aweful!
She is given 3 doses of the sedation med each in 5 minute intervals. She finally stops fighting everything that is happening to her and she falls asleep while I rock her in my arms. I again feel overwhelmed at all the testing she goes through. Overwhelmed for her and for me.
Bill and I go down the hall to the cafeteria where we text our family that she is under sedation now. We were told the testing could take about an hour possibly an hour and a half. We quickly eat because I want to be in the waiting room the second she comes out of sedation.
After an hour, the nurse gets us from the waiting room and we rush the 20 feet to the small recovery area. Sadie is thrashing on the table with her eyes closed. Two nurses are attempting to calm her. It is near impossible. I take her in my arms and I can barely hold her. Finally, I have to sit and Bill has to sit in front of me so that we can both hold her together. She is acting like a caged animal. She is throwing herself back and arching so hard. The nurse is concerned about her reaction coming out of sedation and the doctor comes to say that some children do act like that. He says it may take two to three hours for her to snap out of it. The recovery nurse suggests we put her in her stroller because that sometimes calms children. We do as she suggests and we start walking laps around the testing area. By the second time around, she is interested in drinking her juice and munching a graham cracker. She has to do this before they will discharge her. We walk around a few more times and the nurse says we can take the IV out and go home.
She reminds me that Sadie is "drunk" from the sedation and because she is a wobbly walker anyway that we should keep a close eye on her. That turned out to be an understatement. We finally get in the car and Sadie is falling all over the place like a very intoxicated child.
We get home and Memaw is waiting for us, thank goodness Shelbi was still napping.
Sadie continues to thrash around and throw herself back in my arms. After being home about 20 minutes she throws up ALL of her juice and crackers. Lucky me, I caught most of it, so I didn't have to clean the carpet, just me. She napped for about two hours. For the rest of the night, I had to hold at least one hand to keep her from falling. The next day she remained grouchy and sensitive to being held. She threw her self back as often as she was held. By Sunday she was starting to get a little of her happy personality back. Today she is almost recovered and cheerful again.
Sad to say, the genetic counselor called and our insurance approved the UBE3a test for Angelman Syndrome so she will have to give blood again next week. Yeah!

Saturday, December 13, 2008

Auditory Testing

So Sadie had her hearing test on Friday! It was fast and quite simple.
The first test was to see if there was fluid in the ear...normal.
The second test was to test the eardrum...normal.
The third test was a behavioral hearing test. In other words, the audiologist went in another room and spoke into one of two speakers to see if Sadie would look in that direction. Sadie did this for about 30 seconds and then got bored and didn't look over after that.
So, the next step...Sadie will have an "Auditory Brainstem Response" test. She will be sedated for about an hour through IV. They attach wires to her head and behind the ears to test her specific hearing and also to see if the brain is responding to the sound. During that time they will also do another test to see if her brain is actually processing sound through the cochlear.
So our questions are being anwered by more questions.
We are very grateful to live in a time where such testing can be done. It really is amazing how sophisticated medicine is today!
Sadie is such a trooper through all of this. She continues to be our little love girl and showers us with hugs and kisses constantly.

Friday, December 5, 2008

Normal EEG

The EEG results came back normal. yeahhhhh!

Monday, December 1, 2008

Testing



The EEG went as expected. She cried basically the whole time the tech was putting the wires on with the goopy stuff. 23 wires. First she mapped her head with a red wax pencil. After that she had to clean the area, then put the wire on with thick lotion so it would stick to her head. This took about 15 minutes. Finally, she wrapped her head in gauze so that all the wires would stay in place. She turned the lights off and played soothing Disney music. Sadie cried herself to sleep in about 5 minutes. The tech logged all of Sadie sleepy movements. She slept about 10 minutes. The conclusion to the test is flashing strobe lights of varying intensity. Strobe lights can trigger a seizure. Exhausted, we were home by 12:30.

Hearing test December 12




Tuesday, November 25, 2008

Countdown to Tomorrow Morning's EEG

Sadie is having an EEG at the children's hospital tomorrow morning to see if she is having absence seizures (3-5 second staring spells). She has to stay up until midnight tonight and get up at 6am. She has to be tired for the test and take a short nap during the test. This will be her second EEG. The first was done when she was 14 months old following a febrile seizure. They hook about 20 wires to her scalp with glue to measure her brain waves. She will be strapped to a bed and we hope she will fall asleep for at least 10 minutes of the test.

Saturday, November 22, 2008

Angelman Syndrome Test UBE3A sequencing


Since the last post, I spoke with both the genetics doctor and the genetic counselor. The genetic counselor had to do some research on the test that Sadie had in July. She did in fact have the MECP2 test in July and they are nearly 100% certain she does not have Retts Syndrome. However, based on observation, she still exhibits charactaristics that are so similar to Angelman Syndrome. The doctor still wants to have the UBE3A gene sequenced on the 15 chromosome. There is a 1 in 1000 shot that she might have Angelman's. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome/

Either way, we are starting to come to terms with the future. We are by no means giving up, we are just being realistic about the situation. The doctor says that no matter what, Sadie can live a happy life. We know this is true, but all the wonderful things that make a happy life are going to be different. Finding happiness through her eyes will be our goal and we are seeing things differently. Our acceptance is taking the pressure off in many ways to enjoy her and her life without all the pressures that other "genetically normal" children might face. We'll experience all that with Shelbi. Who can by the way point to 9 body parts at 16 months. WOW. We are blessed with love for both girls, but life will be different. A GOOD Different.

Sunday, November 16, 2008

More Testing

I've hesitated to post all week. This has been an especially emotional week our family. Old fears and feelings have resurfaced and 'Angelman Syndrome' was brought back up by our geneticist on Friday, November 7, 2008 at our 6 month checkup.

Although Sadie doesn't have a deletion or duplication of the 15q chromosome, she does have extra X material on the end of her 8p23.3 deletion. 15q is a marker for Angelman Syndrome, Retts Syndrome, and Prader-Willi Syndrome. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome/; http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=16&Itemid=375; http://www.pwsausa.org/faq.htm

Now, nearly two years after Sadie's diagnosis at her six month checkup, Angelman Syndrome or a Variant of Retts Syndrome is suspected because the extra X material might be 'talking' to the 15q and therefore severely hindering Sadie's development. http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1734853&blobtype=pdf

We suspected Angelman Syndrome two years ago, but it was 80% ruled out by the blood test. We were told then by our Doctor that there were a couple of other tests that would get us closer to being 94% sure, but that we would have to "wait and see how Sadie progresses." She wanted to she if Sadie's development would progress, but if it didn't then more tests would be prescribed. She clinically shows characteristics of Angelman Syndrome, but it has not been molecularly confirmed.

Sadie is having another EEG done at the Children's Hospital Wednesday, November 26 at 9:30am to see if she is having absence seizures...http://www.epilepsy.com/EPILEPSY/seizure_absence. She is also having another hearing test December 10.

So, again we will be forced to change our way of thinking as we try to figure this all out. We know we talk about Sadie a lot to family, but for our friends, some we are quiet and some we are outspoken. We know everyone has a busy life, which is why I'm writing all this down. I know it is complicated to understand, but we appreciate you reading our blog about Sadie. I added links to add to the understanding of it all. We are hopeful and positive in a realistic way. Thank you!

I forgot to mention, that it was recommended that we put her on Periactin to stimulate her appetite.

Thursday, November 6, 2008

Happy 16m Birthday to Shelbi



Our little reader!!! Who might grow up and climb Mt. Everest!!!

Milestones come and go

The last post described Sadie saying "DAD" for the first time. I regret to say that that has been the only time thus far. Strange how children with chromosome issues do things and then they just as quickly stop doing it.

We had a wonderful Halloween, although it is stressful keeping up with your children in the dark. Next year I'll buy a glow necklace or something to see them better. Thanks to Daddy's close eye everyone stayed safe.

We are switching speech therapists this week because our health insurance maximum was met for Sadie and the only option is to pay out of pocket. We're switching to another provider who carries our secondary insurance. We are so sad to say goodbye to Rhonda, she was wonderful!!!

Sadie's baby sister pee peed in the potty 2 times yesterday (15 months old). It would be so nice to have one of them out of diapers. Maybe Shelbi will help Sadie go in the potty too.




Tuesday, October 28, 2008

DAD

I spent Saturday and Sunday with friends at a Creative Memories weekend retreat. When I got home Sunday evening, Sadie said, "DAD" for the very first time. This wasn't a babbling dada, it was clear as can be DAD. How amazing!

A few days ago, Sadie and Shelbi were so cute holding hands and pulling each other in circles around the room. I know Shelbi was sent here to love and be a companion to Sadie. They are so sweet and Shelbi is becoming our little helper with Sadie, even at 15months. Earlier today Shelbi walked in the other room to get Sadie's 'froggy' for her nap because I asked her to get it for mommy.

Wednesday, October 22, 2008

Friday, October 17, 2008

Language vs Communication

Language is important, we all know that, and we all know you can't get anything unless you take it or ask for it. For children who don't have language, or have receptive language, but don't have expressive language, this can be difficult and nearly impossible to get your point across to the person who controls your world. For children, their world is controlled by their parents, until the day comes that you can communicate.

For most of Sadie's life, her communication has been painfully limited and based on my prediction of the things she wants or needs. She is accomplished at saying mama and occasionally says bye bye. She will even say ahhh gohhh to say all gone, but as far as requesting things she has been severely limited.

We have been working on PECS (picture exchange communication system) since the beginning of summer. We, I, have been signing to her since she was a baby. Shelbi picked up signing immediately. Most recently, we have started to see some actual requesting. On Tuesday, Daisy(dog) was sitting in the recliner and Sadie wanted to sit in the chair. I told her that she should tell Daisy to "Get Off." I nearly fell out of my seat when she said, " ggggg ohhhhhh" to Daisy. Then today, I signed to Shelbi to ask if she wanted "more waffles." To sign more, you take the tips of the fingers on both hands and you touch them together. I look over at Sadie and ask her the same thing. OMG, she signed more...for the first time. I'm serious...for the first time ever. About five minutes later, I asked her if she wanted milk. I told her to show mommy with your hand that you want milk. To sign milk, you squeeze your fist together like you are milking a cow. She signed milk. As if one sign didn't make my day, she signed another sign. A little later on, she stripped down her diaper and clothes, which I now know means she has a wet diaper and doesn't want it on anymore, or that she needs to go pee. Her diaper was dry. I walked her in the bathroom and after a few attempts...she peed in the potty. They say things come in threes! I can't wait to see what she does the rest of today. She communicated her needs!!!

Friday, October 10, 2008

Chromosome Microarray

Ok, one more thing for the day.

We finally got the results for Sadie's Chromosome Microarray test, which show in more detail the genes that are affected with her karyotype.

Luckily, not much changed. She is still missing the 8p23.3 region of her 8th chromosome. However, the difference came with the additional xp material. The original Chromosome Analysis test showed additional xp22.13, but we now know that it is a shorter band of material with the addition of xp22.2 material. The genetic counselor said that additional material usually doesn't make a lot of difference, it is the missing material that has the most affect.

Pretty neutral information, not helpful, but not hurtful either.

GI appointment

We saw the GI doctor on Monday. He is always nice. They didn't do much more than take her weight, height, blood pressure, and temperature (armpit). We are now on 6 month appointments as the prevacid is controling the majority of her spitting up. Only on rare occasion, does she have a burb induced spit up. Yeahhhhh!!!

AFOs

Forgive me...I'm still trying to catch up on the blog.

Three weeks ago, Sadie was "fitted" for her new AFOs (braces for feet). When I say "fitted," I mean casted toe to knee and immediately having the cast cut off. The purpose is to have the AFO fitted specifically for her feet. I guess this makes sense...to me, but to a 3 1/2 year old...NO WAY. It wasn't nearly the worst thing to have done, but it makes the list.

Either way it had to be done. We picked up her AFOs from the therapist on Tuesday. Imagine trying to put a wet pair of jeans on an uncooperative child. We finally got them on, kicking and all.

She still only wears them at night to prevent recurrence of the tendon tightening.

By the way, they cost approximately $1200 and insurance only covers 80%. I guess that's better than nothing.

Tuesday, October 7, 2008

Busy Busy Bee

I can't believe October is really here and today is Sadie's 3 1/2 year birthday. Let's see, what has happened since April? Sadie continues to be a loving child with the occasional tantrum. As expected for any child with or without disabilities. Sometimes I think Shelbi is a bigger handful. They continue to grow and bond with each other. Loving and pushing each other all at the same time. Sadie is amazing us with her desire to learn and grow. She is a better eater and finally in the 25% for weight! Yeahhhhh!!!

As for school, this year has been more demanding on us and the teachers. In theory, her school is welcoming and excited to teach children with disabilities, but the truth is they are ill-equipped with the necessary special education experience. We have even found ourselves in the company of a person who discriminates and refused to be in her class. We are compromising, as we know, we do live in a free country and each person has a right to their own beliefs. The public school system is sending an itenerant special education teacher and speech itenerant to work with Sadie two times a week. This is the community preschool inclusion model.

I was driving Sadie to school last week and saw a bumper sticker...Well behaved women rarely make history. It must have been calling my name because I was torn by the feeling to fight or be grateful that at least one school would take her. I'm trying to find a balance so that I don't cram Sadie's issues down people throats. Bill and I want people to be interested in Sadie. BUT everyone has their own story and not the time to worry about another family. We do understand this; although, it is hard to take sometimes.

Wednesday, April 9, 2008

December to April

Wow what a busy time!!! Let's see...Sadie's foot surgery was a complete success. She is a walker now. It is so wonderful to see her on her feet all the time now, instead of knee walking. I'm so proud of her! All the gastroenterology testing showed she has a slight delay in stomach emptying. We increased her dose of prevacid and it has worked wonders, she hardly ever spits up anymore.

We pulled her from the public school special ed. preschool to offer her an inclusion program with her peers at All Saint Episcopal Day School. She absolutely loves going to school with children her own age. They just love her too. It is so sweet to hear the children call her name.

She is now saying approximations of hello, bye bye, baby, off, on, all done, dada, mama, milk, and more. It is so exciting to watch her development.

We celebrated her 3rd birthday on Sunday, April 6 with Nanny, Memaw and Poppy, Amy and Sonny, Jack, Gina, and Sophie, and of course Mommy, Daddy, Shelbi, and Daisy too. Her actual birthday was celebrated quietly at home with Mommy, Daddy, Shelbi, and Daisy on April 7, 2008.


Shelbi is moving mountains with her development. She is now 9 months and is amazing too. She started army crawling at 6 months, real crawling at 7 months, cruising the coffee table at 8 months, and took her first independent 5 steps on her 9 month birthday. She says mama, dada, gaga, and baba. Look out world.

Shelbi is also finger feeding herself. She is very healthy.

Mommy and Daddy are doing good too. Daisy is sweet as always.