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.