New Support Group for Rhombencephalosynapsis!!

This is REALLY important news for those of us who have kids with RS, because it is quite a rare condition (well, at least it's been rarely diagnosed up to this point, which isn't really the same thing, but more on that later).

Two mothers of children with RS, Cassandra and Sarah, have put together a website, called Rooms of Jade, for any and all who may be interested in RS. There is a forum where we can go to discuss issues or ask questions, plus pages with links to personal blogs of kids with RS, information about RS and the associated syndrome, Gomez-Lopez-Hernandez Syndrome, etc.

If you have a child with RS, OR if you are an adult who has RS, I would encourage you to visit this site and register for the forum. Sarah is compiling a very informative spreadsheet with characteristics of each person with RS so that we can attempt to figure out which characteristics are shared by all or most, and which are not. This is very important because there is so little information out there right now. Doctors know very little about this condition and the implications for our children as they grow.

So please contact Sarah if your child has RS and help us all by sending her information about your child. We are not making this spreadsheet public, only the results are public.

Notes from the Micro Conference, Part 1

OK, well I forgot my camera after all....oops!

I did have an old cell phone with a camera, but the pictures are not very good. I'll post a few anyway....

Below is a picture taken during Dr. Dobyn's talk. He discussed various brain anomalies and when malformations occur during pregnancy, as well as microcephaly in general. It was very interesting!

Emma expressed her opinion of the talk by going to sleep..... :)

Here is a picture of my friend Holly from Oklahoma holding Rachel....I tried to get a picture of Rachel's face but just as it snapped the pic she moved to hide behind mommy!


This was all on Saturday, which was the only day we made it to the conference. On Sunday (Father's Day) we had Holly's family over for dinner. Since Holly, Tony, plus their kids make 10 people, I made a huge batch of enchiladas, chicken with green sauce, beef with red sauce and plain cheese with red sauce. Everyone seemed to enjoy dinner!!

I will write more about the conference in a later post...there's quite a lot to tell about Emma's appointment with the doctors!

Well, we're off to the convention!!

I'm excited....we're going to the Microcephaly Convention in Costa Mesa, CA and hopefully will get to meet Holly and her family in person!! Fortunately we live in Southern CA but not close to Costa Mesa....it's about an hour's drive away if the traffic is OK.

They are supposed to have things for the kids to do while the parents are in workshops....boy that would be great!

I'm taking my camera, so I plan to post more soon!

The girl is THREE YEARS OLD!!!

Hard to believe, isn't it! Emma turned 3 on June 7th, one day after her Grandma June's birthday, and two days before her daddy's birthday.

My little doll....I took so many pictures of her at her birthday party, and they're all so adorable! I can't decide which ones to post, so I give up.....I'll post them all! :)

The beautiful handmade customized crown that Emma is wearing was purchased from BetterThanNormal.org, which was started by Melanie, Daniel's mother, in order to raise money for Daniel's alternative therapies (not covered by insurance). Isn't it amazingly cute?!?





Emma LOVES the idea of being a princess and wearing a crown....she's just in seventh heaven!










The crown wasn't the only hat Emma got for her birthday....her Grandma June bought her some lovely clothes and a beautiful hat to match:


Emma was fascinated with the DVDs she got for her birthday....some of her favorite shows, such as Dora the Explorer and Caillou....she was so excited!

Well, a good time was had by all; and the gluten-free vanilla cupcakes turned out quite well!

My Funny Girl

There are times when Emma talks incessantly.....about almost anything. She's well known for repeating things that she's heard, even from TV commercials. Depending on where she is and who is present, the results can be hilarious!

California has a system of Regional Centers to coordinate and provide needed services to children with disabilities. Not just any disabilities though....for children over the age of three, they will only service kids who fall into the following categories: autism, Down's Syndrome, cerebral palsy, or mental retardation. So as a child approaches the age of three, they have to go through an evaluation process to determine if they will continue to be eligible.

Emma was recently evaluated by the Regional Center psychiatrist, Dr. Frey. He tried to get her to talk to him but she was being stubborn and wouldn't answer his questions. So I put her on the floor to play with toys and he asked me a series of questions about Emma's abilities.

At one point Dr. Frey asked me if Emma understood the concept of money. I started to answer but was interrupted by a sweet little voice from the floor, which said, "That's the money you could be saving with Geico!"


P.S. To those who don't live in America, this is from a very silly television commercial for a car insurance company.

Visit with Dr. Lightdale

As you know if you've been reading this blog for a while, Emma will have surgery on her arms at some point to straighten and strengthen the wrists. Many people with TAR Syndrome undergo this type of surgery.

Last Monday we took Emma to see Dr. Lightdale, a hand/arm surgeon at CHLA. Dr. Arkader had recommended that we see her and talk to her about surgery options. Apparently Dr. Lightdale uses a modified version of the centralization technique, with an internal pin rather than an external fixator, but she feels that it's been quite successful for her patients. She presented her own philosophy and approach to surgery, and told us that she would be happy to do the surgery on Emma's arms if we wanted her to.

Dr. Lightdale also expressed willingness to act as a local support person if we still want to go with Dr. Paley for the arm surgery; in other words, she would be happy to adjust the fixators, etc., during Emma's recovery period.

Dr. Paley has been our first choice for a long time now, but lately we've been wondering if it will be economically feasible to use a doctor who is 3000 miles away! I thought we would be able to afford it, but that was before I developed so many health problems of my own and ended up in a wheelchair.

We are praying for guidance in this matter...we want the best for Emma in every area.