Saturday, February 28, 2009

Rare Disease Day, and lots of Pictures!

Please show your support and sign the petition for Rare Disease Day


Also please take a moment out of your busy day and educate yourself on a Special Disease / Disorder or just the organizations that are trying to bring light to all those who are affected. This may be something that means nothing to "you" but it means the world to me! Please help us make a difference. Just one more person who understands is victory to me!


http://www.rubinstein-taybi.org/ Rubinstein-Taybi Syndrome Family Resource Site


http://www.rubinsteintaybi.com/ Special Friends Foundation


http://www.stephanie-hunt.com/index.htm Stephanie Hunts page for Rare Disease day and RTS Fundraisers


http://rarediseases.org/%20 NORD - National Organization for Rare Disorders
Also check out the links on the right for other RTS Family Blogs!


Thank you for taking the time to learn more about our struggle!!


Below are some pictures that were taken when we had the opportunity to meet some of the RTS sweeties in our area.

February 2008 Incredible Pizza - 4 RTS Sweeties in attendance








March 15, 2008 Frankies 1st Birthday Party





June 2008 , RTS Barbecue at Frankie's House










December 2008 , Hanging out with Bella


January 2009 - Rest in Peace Princess Bella! We Miss you!!!



Thanks for looking!! Love Frankie :)




Friday, February 27, 2009

Rare Disease Day February 28, 2009

I just wanted to share some news with yall! I just received an email from Governor Rick Perry's office. Texas is now on board for Rare Disease Day, he just signed today!!

This goes to show that when people work together change does happen!

Thank you to everyone who emailed , wrote or called on behalf of those who have a Rare Disease / Disorder.

Tuesday, February 17, 2009

Updates on the Kiddos

Frankie is doing great, aside from his tantrums and constant screaming/crying!! The little boy didn't cry for the first 6 months of his life.. I knew he would make up for it sometime!! Thank God for tylenol!!! He is busy crawling around the house and getting into stuff.

Below are some pictures of his new Orthotics (Foot/ Ankle Braces) he has some trouble with his feet and trouble with the strength in his legs (he likes to lock his knees to get support) Hopefully the Orthotics will help!! He doesn't seem to mind them much. We even found a pair of tennis shoes that fit today, woohoo!! Stride Rite size 5 1/2 XW (Extra Wide) they look so huge compared to his little body!! They also fit into his Crocs which are pictured.



Frankie is also doing patching, switching eyes daily. He doesn't have strabismus but his eyes do wander at times. It took a while but he is finally getting used to it. At first everytime I patched him he would fall asleep, it was crazy yet lovely!!


Mikaela is doing great, she officially quit the basketball team! After about a week off we attempted practice again, she was scared the entire time. She wouldnt step foot on the court without me and freaked out everytime someone ran past her or just close to her.. Oh well, we will try again in a few years!!



Here she is with some of her artwork, well cutting!! She loves to cut up paper with her scissors - she calls it "making snowflakes". She doesn't like to clean it up though! Neither do I!!!!



Below are some pictures we took at Chuck E. Cheese, we went for our playgroups Valentines Party. Fun Fun Fun!!



Frankie with his "Cup". Endless hours of entertainment!! He loves to bang!




I can't believe it, but Frankie will be 2 in 25 days!! Where has the time gone??
Vomit--!!!! Mikaela has been vomiting all over this evening, she is so sick :( she is also running a high fever with whelps all over her body.. Frankie had a very upset stomach this past weekend, he even threw up (all over me of course) in the middle of the night.. Kind of crazy since he isnt supposed to be able to throw up!! I'm guessing maybe he got Mikaela and Corey sick?!! He also has had an ear infection for over a week and half. I can't wait till everyone is healthy again!!

Friday, February 6, 2009

Looked what he learned! So exciting :)

Be sure to pause the music on the bottom right hand side!

video

Thursday, February 5, 2009

Check him out!




Frankie is now self feeding himself! Crackers, Rice Cakes, Cheerios, Gerber Puffs and on and on



Exiciting!! I have waited too long for this day!! I just love the messy carseat!!! Car trips are alot let stressful now, I can hand him something and it keeps him quiet for a while :) He loves his Chicken in a Bisquit crackers - pictured below!





Wednesday, February 4, 2009

NORD National Organization for Rare Disorders

Please check out Stephanie Hunt's page - Former Mrs. United States. Stephanie has a son with RTS. February 28th is being set forth as Rare Disease day in many states. You can sign the petition and also find a sample letter to email to your governor to get your state involved!

I already emailed our Governor, Rick Perry. The more the better!!

For Texans you can click this link to email the Governor

http://governor.state.tx.us/contact/assistance.aspx

Please help us draw attention to the many Rare Disorders out there affecting our children! You are reading this blog so you know someone who is affected by a Rare Disorder - in Frankies case its RTS Rubinstein-Taybi Syndrome. Help us make a difference!!! Please spread the word

http://www.stephanie-hunt.com/ Stephanie Hunts page

http://www.thepetitionsite.com/1/rare-disease-awareness-day Petition

http://www.stephanie-hunt.com/nord.htm Link for Sample Letter

Monday, February 2, 2009

A Dream Come True!

So guess what the kids are doing right now?? Playing in the playroom!! TOGETHER!! I know that sounds kind of strange to some out there, an almost 2 year old and a 3 year old are playing - BIG DEAL! Seriously, its a BIG DEAL!! I have been waiting sooooo long for this day!!!

Oh, and guess how Frankie ended up in the playroom? HE CRAWLED THERE :)

Sunday, February 1, 2009

STEPPING UP!

Two RTS Angels, one on earth and one watching over us from Heaven



I think its about time that something is done. I am sick and tired of Rubinstein-Taybi Syndrome (RTS) being foreign. I am so tired of having to teach Dr's and Nurses about my son, aren't they supposed to teach us? Aren't we supposed to learn from them? I know that RTS is very rare but if you are treating someone with RTS shouldn't you make an effort?

I heard too much these past few weeks, I think I was pushed over the edge! I'm referencing the time we spent in the hospital with Bella. I was present for a few conversations with her Dr's, I was also told about many more.. Specifically a Dr's response to questions about a lung transplant. "Why can't Bella get on the list for a lung transplant?" Response - "It's my understanding that she doesn't qualify because of her Syndrome" WHAT THE HECK?? Its my understanding that you DONT UNDERSTAND! Another example would be the questioning of her medications. There are some medications that we as the families know that some of our kids can't handle. I.E. Versed , I.E. Morphine and on and on. When the questions arose the Dr's replied with "Show me the research then we will talk about it." Shouldn't they be the ones showing us the research?? The problem is that there isn't any research! I am fearful for the day that Frankie is in this position, I pray that he will never be!


We need to step up and do something. Remember the RTS Research Fund? I strongly believe that research isn't going to help us. We can't change our children, but we can change what information is available to us and the Medical community. Can we use some of the funds and future funds for Medical Documentation /Compilation? Statistics? Like what medications are questionable, how many had adverse reactions? Updated facts on Medical issues? It's so hard being in the dark, but even harder when your child is facing the fight of their life and noone knows anything about their condition.


I don't know where to start but I know that we need to! We are blessed to be the family and friends of RTS Angels, we all need to step up and make a difference for the future of our Sweeties.

We are stepping up and spreading the word, are you?