Monday, December 10, 2012

2012 FAST Gala Video

This is so beautiful!! I smiled and sobbed through it, a few times! I am astounded at the number of kids in it this year, just shows how FAST has really connected to so many families around the world. It's just fabulous!! Joshua is the last picture in the "Put Me In Coach" section, wearing his baseball uniform, looking oh so handsome! ;-)

Love one another!~Yvonne

Wednesday, November 28, 2012

Gluten Free Pie Crust

I have been searching for quite a while for a good looking GF pie crust recipe, and this one looks very promising! I haven't tried it yet though, but it comes from The Renegade Kitchen blog, and I always love her recipes! I'm definitely going to be trying it soon!

Gluten free Crust

What you’ll need -
1 Cup Stoneground buckwheat flour
1/2 Cup Sorghum flour
1/2 Cup Tapioca/Cassava Flour
2T Coconut Sugar
1/4 tsp Sea Salt
5T Coconut Oil
2T Apple Cider Vinegar
4-5T water
Tools -
Mixing Bowl
Small bowl
9 inch Pie Plate
Whisk or Electric mixer (like a Kitchen Aid)

How to do it -
Step 1 – Preheat oven to 350F. Add dry ingredients, including sugar, to a mixing bowl and combine well.
Step 2 – Add coconut oil to dry mixture and incorporate until dry mixture turns crumbly.
Step 3 – Combine water and apple cider vinegar in a small bowl.
Step 4 – Add water mixture to dry mixture slowly, mixing with your hands or electric mixer (on low) until it begins to stick together well, but don’t let it get too wet. Work the dough into a ball with your hands a few times.
Step 5 – Press the dough evenly into the pie plate with your hands (you don’t need to roll it out first).  Sometimes I use a small glass to roll out the base of the crust while it is in the pie plate.
Step 6- Once you have the crust the way you want it, place it in the oven at 350F for 15min.  Once finished, remove and allow to cool while you prepare the filling.

Go on over to The Renegade Kitchen link and see the delicious sounding filling that she put into this pie crust! I don't do eggs, or I'd be all over it! ;-)

Love one another~Yvonne

Joshua's amazing painting @ the FAST Gala Auction

This is one of Joshua's amazing paintings, that he has allowed to go to FAST this week, for the auction on Saturday night, at the FAST Gala. He was pretty excited about sending it! It's on a 18''x24'' canvas. I saw in an e-mail tonight that FAST is having the Gala auction automated, which means that Gala guests and those at home will be able to bid using their cell phones or iPads, or computers. That is amazing! I am sure it will really help to bring in more money, when so many more people will have the ability to bid from home! I will try to post the links/info on how to do it, when I get more information.

In only 3 sleeps from now my daughter, my mom and I, will be on our way to Chicago for the FAST Gala! This will be my third time to go, and I really get more excited about it each year than I was the year before. So many more friends are made, and friendships that I already have are strengthened by the time together. Sometimes it feels like I have two lives, my Angelman Syndrome life, and my regular life but really that's not too odd for this Gemini lady, who has always felt as if I have two personalities. I love the support I get in the Angelman community, and I also really love giving others support when they need it. Our kids are amazing, AMAZING human beings, and a joy, but they really do require a lot of us, and sometimes it really takes the support of the community to get through some of the tough stuff. We are very blessed to have one another!

Sunday, November 18, 2012

Creating A Meaningful Life for Jackson: Sally Richards at TEDxCanberra

Quite a few friends have created microboards for their children with disabilities, and this is truly in the spirit of what a microboard can accomplish. It can help to create, just as Sally says "a good, but ordinary life, that is truly worth living".

Watch this and let me know what your thoughts are. I have not begun this process yet myself, for Joshua, but it's something that I plan to do in the future. I am trying now, to take the baby steps to prepare for that future; building relationships for Joshua that are real and meaningful to him.

Love one another~ Yvonne

Thursday, August 23, 2012

GF-Vegan Scrumptious Southern Cornbread

My back has been out and since I can't do any bending or lifting, I have been at a loss as what to do with myself, and have wound up doing a lot of experimenting with recipes. It's been fun!

This corn bread actually tastes like the REAL cornbread that I loved so much before having to go gluten free. I'm quite enamored by it's sweet crumbly perfection! It is definitely a new staple in the menu!

Find the recipe below!

Enjoy, and love one another!~ Yvonne

Thursday, January 19, 2012

Foundation for Angelman Syndrome Therapeutics PSA by Hulu

Amazing!!, a website offering on-demand streaming video of TV shows, movies and webisodes to MILLIONS of viewers is now running the following Public Service Announcement for Angelman Syndrome.Thank you!

Saturday, January 7, 2012

FAST and Angelman Syndrome Go Primetime!!

Wow!! Colin gave an absolutely beautiful speech at the end. Had me in tears!! He is such a beautiful soul, and a great dad to James. I loved his tribute to James' mom, Kim, and to all of the rest of us Angelman parents. Super sweet! I laughed so hard at the part about James later licking his award! That was something most people in the audience didn't get, but WE all do!!! The whole thing is lovely!! Watch!!

Love one another~Yvonne

Tuesday, November 15, 2011

Chia and Fruit Pudding

I call it pudding, it's a pudding consistency, but nothing like JELLO pudding, made with milk! ;-)

I make up the chia and fruit pudding using different organic frozen fruits. This batch was made with peaches and mangoes, but the last one I used blueberries and mangoes. You can use whatever your child likes, but I've read that it is good to rotate it some, as you can develop allergies to foods that you eat too often. That is why I played around with this, because Josh was eating WAY too much applesauce and it was beginning to give him re-flux.

I get my chia seeds here: at Raw Food World. You can go there to read all of the nutritional benefits of chia also. For 10% off of your oder, you can use the promo code HONEYMOON. I buy it often and keep them in a jar, since we use it pretty often.

First you put the organic fruit in the blender or food processor with about a 1/4 cup of water, add a little more as needed.

I then add another 3/4- 1 cup cup(s) of water to it, and 2 tablespoons of Agave nectar.

Add only 3/4 cup first stir in the chia and see if you think it needs more water. You could even use a fruit juice if you like! Put it into a bowl, and add 4 tablespoons of chia seeds and stir!

Now, you cover it and refrigerate for at least 8 hours, so that the chia seeds have ample time to soak up water. This is a very hydrating treat! It turns very gelatinous! Joshua really enjoys this.

Joshua tends to choke after about 5 bites of food, so I use this as a palate cleanser in between bites, it really helps!!

Friday, November 11, 2011

Squash/Kale and Eggs

I've discovered a new twist, to make Joshua's beloved eggs for breakfast, more nutritious. Adding in yellow or zucchini squash and a little green. You could use spinach or kale for the green, but I used kale today. If your child is aversive to seeing green in their eggs, just use the squash and it's just yellow, like eggs. ;-)

First thinly slice the squash, and sauté it in a pan with some extra virgin olive oil. I cover the pan and set timer fir 5 minutes. While that's going, I thinly slice two leaves of kale, and then throw it into the pan after the 5 minute timer goes off on the squash. Saute for another minute or two, until the kale is a vivid green.

Next two eggs, sunny side up.

Throw it all in the food processor, and voila'!

Joshua LOVES it!

Friday, November 4, 2011

FAST Newsletter, November 2011

The latest edition of the FAST Newsletter has arrived!

November 2011, FAST Newsletter

Click the above link to read the following articles:

You had me at hello
by Debbie Guagliardo

Approaching clinical trials… “What a long, strange trip it’s been”
by Edwin J. Weeber, Ph.D.

Questions regarding the potential clinical trial
by Rebecca D. Burdine, Ph.D

Opinion piece—  clinically important
by Rebecca D. Burdine, Ph.D

Meet our new postdoctoral fellows

Thoughts on the word “cure”
by Rebecca D. Burdine, Ph.D

Jamie Berkley Memorial Tournament

The turning point
by Paula M. Evans

What I did this summer
by Tina Thompson

Ready for my close-up… in the Ville
by Sharon Weil-Chalker M.D

Events and fundraisers

Monday, September 26, 2011

Angelman Syndrome Jumps from 1:15,000 Births to 1:1,500 for Babies Born Using IVF

In-vitro fertilization linked to rare genetic disorders

REUTERS / Kacper Pempel
REUTERS / Kacper Pempel
A doctor injects sperm directly into an egg during an in-vitro fertilization (IVF) procedure in Warsaw.
 Sep 25, 2011 – 9:41 PM ET
A University of Toronto geneticist is calling for more study of a link between fertility treatment and certain rare genetic disorders, noting that babies born after treatment are up to 10 times more likely to suffer from the conditions — one of which causes serious mental disability.
And that is likely just the tip of the iceberg, Dr. Rosanna Weksberg said after addressing Canada’s fertility-medicine community recently.

Dr. Weksberg said she supports in-vitro fertilization and other reproductive-technology procedures, with the “wonderful” benefits they usually bring families, but noted that she is already seeing many fertility-treatment offspring with one of the conditions show up in her genetics clinic.
Called Beckwith-Wiedemann syndrome, causing symptoms such as unevenly sized limbs, an enlarged tongue and a high risk of kidney tumours, it occurs in one of every 1,300 such children, compared to one in 13,000 in the general population.
Further research is required, said the physician at Toronto’s Hospital for Sick Children, to deduce why the treatments sometimes trigger genetic abnormalities — though still in a relatively small number of cases — and devise ways to make the treatments safer.
“We are seeing a significant increase in risk,” she said after her presentation to the Canadian Fertility and Andrology Society conference. “The most important message is … we need follow-up study.”
As she finished her talk, the fertility doctors and scientists politely applauded, filed out to their morning break and asked no questions, a contrast to previous speakers. The apparent lack of interest was “very telling,” Dr. Weksberg admitted with a smile later.
She said she would like to partner with one or more fertility clinics to study larger populations of children born with the help of reproductive technology, though so far has no takers.
She also said one of her “biggest disappointments” was that a Supreme Court of Canada ruling late last year had ruled unconstitutional most of the federal Assisted-human Reproduction Act, since the agency set up by the law could have played a key role in spearheading such research.
A spokesman for the fertility society said the industry is, in fact, keen to get to the bottom of genetic disorders connected to its work, but no clinic could afford to fund research on its own.
“It’s a very real source of concern,” said Dr. Roger Pierson, a University of Saskatchewan fertility scientist. “We’re still in the first two generations of people born with assisted-reproduction technology … and there is lots we don’t know about them.”
The genetic conditions detailed by Dr. Weksberg include not just Beckwith-Wiedemann, but also Angelman syndrome, which can cause serious mental retardation and speech impairment, and jumps from one in 15,000 births to one in 1,500 among fertility-treatment kids, she said.
There is also evidence of an increase in the likelihood of a baby being born at a low weight, and conflicting research suggesting an increased risk of autism, she said. Other findings may well come. “It’s the tip of the iceberg,” said Dr. Weksberg.
The exact cause of the genetic problems is unknown, but is likely a combination of the biological parents’ infertility problems and genetics, and the treatments themselves, said Dr. Weksberg.
Earlier, the conference heard from a U.S. scientist who told of new innovations in diagnosing genetic problems before in-vitro fertilization is performed, and in fetuses during pregnancy.
Dr. Matthew Rabinowitz, CEO of the company Gene Security Network and originally trained in physics and engineering, entered the field only a few years ago after witnessing a relative’s traumatic experience with a baby who was born with a genetic disorder and eventually died.
He said his analysis of the genetics of embryos, using results of the human-genome project, provide a more accurate prediction of problems like Down’s syndrome than conventional testing. Similar, non-invasive genetic testing is now also possible of fetuses during pregnancy by looking for fetal DNA in the mother’s blood, he said.
“This is something we really hope will change the practice of pregnancy management around the world,” said Dr. Rabinowitz, also a professor at Stanford University.
In fact, the work is of such innovation it could one day lead to a Nobel prize, predicted Dr. Pierson, calling it “brilliance beyond the norm.”
The research also raises moral and philosophical questions, though, since the testing potentially leads to the rejection of embryos for IVF or termination of pregnancies when genetic problems like Down’s are detected, he noted.
Entire article taken from the National Post.

Friday, September 16, 2011

Snaggle Toothed Pooh Bear

I haven't posted any pics of the Pooh Bear in a while, so here are a few. He's just lost his two front teeth and looks adorable!

Actually his dad pulled one of them and his dentist pulled the other one. He was very brave at the dentist. I was so impressed by his new dentist and the staff there. They were so sweet and gentle with Joshua! I will be recommending Dr. Hoffman to all who ask for a dentist referral, from now on. Joshua did fantastic with the papoose board, it calmed him down immediately. I was so impressed with that. They had a flat screen tv right over his head and he watched Tangled. He and his Sissy watch that one together a lot, and it's the only cartoon that he will watch. He is usually not too interested in cartoons, and prefers The Wiggles, Sesame Street, Barney and Blue's Clue's; real people, grown up's and kids, puppets, muppets and such.

He will go back to the dentist in a few weeks. At that visit, he's going to be getting sealants on his back molars. He will be disappointed to not get his teeth polished, I think, he adored the vibrating and tickling! At least they will still be using Mr. Thirsty, the suction tool, that one is pretty funny too!