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!!

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!

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

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

A doctor injects sperm directly into an egg during an in-vitro fertilization (IVF) procedure in Warsaw.

•  

Tom Blackwell  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.

National Post
tblackwell@nationalpost.com

Entire article taken from the National Post.

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!

We WON!

FAST won the Vivint Gives Back contest. I am very late in reporting it, sorry! ;-) Here is video that you can watch of our family, and Paula Evans, chairperson of FAST, accepting the check at Vivint, in Provo, Utah.


FAST - Winner of Vivint Givesback Project 2011 from Marcel Cairo on Vimeo.
.
I'll try to write more very soon, about the whole experience of going to Vivint, it was FABULOUS! Thanks so much to everyone who helped us to win this, it's amazing how many parents, and family, and friends, and even sales people at the mall (seriously) that were voting! What an experience to feel all of that love and support pouring into our community! Love one another~Yvonne

Genetic Engineering Cures Mice of Brain Disorder

Genetic engineering cures mice of brain disorder

BY: MELISSA MARINO

Children with Angelman syndrome are often seen laughing and smiling, but this cheerful demeanor masks serious neurological problems — mental retardation, movement problems and seizures.

2/09/2007 - Edwin Weeber, Ph.D., is studying Angelman syndrome. (photo by Susan Urmy)

New research in mice, however, suggests that many of these deficits could be alleviated.

Edwin Weeber, Ph.D., and colleagues reversed the neurological deficits in a mouse model of Angelman syndrome by preventing the inhibition of CaMKII, an enzyme highly expressed in brain regions affected by Angelman syndrome.

The results, which appear in the March issue of Nature Neuroscience (currently available online), reveal an important part of the mechanism underlying the condition and point to potential therapeutic targets for treating these symptoms.

Angelman syndrome, which affects approximately one in 15,000 children, is a debilitating neurological disorder characterized by mental retardation, severely limited speech, and movement and balance problems.

In 1997, researchers determined that Angelman syndrome was caused by a mutation in a single gene, called UBE3A.

They subsequently developed a mouse model of Angelman syndrome by mutating this gene.

But the finding was baffling, said Weeber, because UBE3A is a “housekeeping” gene, meaning that it broadly regulates cellular processes not particularly specific for any of the neurological deficits seen in these children. Specifically, the protein encoded by UBE3A “tags” other proteins for degradation by the cellular “garbage disposal,” the proteasome.

“The most difficult thing to rationalize was that this housekeeping gene — which nobody thought did anything — caused severe mental retardation,” said Weeber, an assistant professor of Molecular Physiology and Biophysics and Pharmacology and senior author on the study.

“So we started trying to identify some of the protein's molecular targets.”

In the process, Weeber and colleagues identified an abnormality in the Angelman syndrome mouse model — changes in an enzyme called calcium/calmodulin-dependent protein kinase II (CaMKII), which is important in the cellular processes that underlie learning and memory.

They found that, in Angelman syndrome, CaMKII activity was reduced due to an inhibitory chemical modification (phosphorylation). Because of CaMKII's prominent role in neuronal function, Weeber suspected that this might account for many of the neurological deficits seen in Angelman syndrome children.

Fortuitously, one of Weeber's colleagues — Ype Elgersma, Ph.D., at Erasmus Medical Center in Rotterdam, Netherlands — had created a mouse with a mutation that prevented this inhibition of CaMKII.

The researchers decided to breed the Angelman mice with the CaMKII mutant mice to see if counteracting the CaMKII inhibition would alleviate the neurological problems.

The researchers then ran the resulting “double mutants” through a battery of neurological and cognitive tests.

Angelman mice performed poorly on learning and memory tasks and displayed impaired motor coordination.

The double mutants, however, showed normal learning and memory and motor coordination. And while the Angelman mice were also prone to seizures, the double mutants showed very low seizure susceptibility.

Weeber was surprised by the robust results. “We thought we might rescue some of the deficits that we saw in the mouse model,” he said. “We had no idea that we were going to rescue basically everything.”

Although impossible to apply the genetic engineering used in the current study to correct these deficits in mice to humans, Weeber thinks that the findings may point to new therapeutic targets for the disorder.

“It's very conceivable that if we can figure out what lies between UBE3A and CaMKII — and if it's a specific path — then that could be a therapeutic target.”

But the results may apply more broadly, Weeber said, to other types of mental retardation syndromes that remained unexplained and untreatable.

“There are a lot of mental retardation syndromes that we still don't understand. Maybe the changes in CaMKII associated with Angelman syndrome could be implicated in other mental retardation syndromes as well.”

Weeber is also an investigator in the Vanderbilt Kennedy Center for Research on Human Development.

Taken from original source: VANDERBILT UNIVERSITY MEDICAL CENTER'S WEEKLY NEWSPAPER

What my friend Bronwen and Actor Colin Farrell have in common...

Article taken from origninal source: Chester County Moms Blog

http://www.chestercountymoms.com/2011/08/what-my-friend-bronwen-and-actor-colin.html

Wednesday, August 24, 2011

What my friend Bronwen and Actor Colin Farrell have in common...

This post is written by one of my oldest and dearest friends Bronwen Ward. Bron is the mother of two beautiful girls Hannah and Lily. Today is Lily's Birthday and in honor of her Birthday I wanted to share her story and help draw awareness to a cause that my friend Bron has been campaigning for the past few months.

Lily has a smile that is infectious. It’s big and bright and totally pure. Her laugh is amazing. She makes the people around her smile and laugh with her. Lily has red hair, big blue eyes, and skin so pale she is practically translucent. She looks like an angel, and she is. Lily hasAngelman Syndrome.

Angelman Syndrome (or AS) is a neurodevelopmental disorder affecting approximately 1 in 15,000 births. Although the cause of AS is known, there are currently no treatments available for this disorder
Lily was diagnosed with Angelman Syndrome at ten months old. She was diagnosed through genetic testing, after visiting multiple doctors because of reflux; physical therapists because of unmet milestones; and a general feeling of “something just isn’t right”.


When your pregnant with your second child, of course everything will be perfect. Just like the first time. Plans are made. Everyone is excited. Big sister, Hannah, has such plans for the new baby. Hannah has decided that they will be best friends, become veterinarians together, and raise their families together. Pregnancy, labor and delivery are all fine. It’s the after that’s not.

When you have a baby, there is no ceiling. The sky is the limit. Everything and anything is a possibility. After a diagnosis like Angelman Syndrome, you have to rethink your lifestyle, your life plans, your everything. I went through a mourning period. I mourned for the fact Lily would never get married, never have babies. I mourned for the fact that life would be harder for her. She would have to struggle to do the simplest tasks. I was so sad for Hannah, that her dreams for her sister would not come true. Amazingly, she told me, at the age of six, that it was alright if Lily couldn’t become a vet. Lily would live with her, and she, Hannah, would take care of Lily. I’ve discovered over time, that, you have these dreams and hopes, but they are flexible. They are ever changing. I was sad and heartbroken, but Lily was happy and loved. She helped fix me.

Lily will be six in August, and we are at the five year anniversary of our diagnosis. I say “our” because we are a unit. My husband, Adrian, my eleven year old, Hannah, myself and Lily. Having a marriage is hard already. Throw in a child with a disability, the fact that I had to quit my job so we are down to one income and the craziness of everyday life; it’s sometimes hard to keep our “unit” in working order. A sense of humor is a must. If you’re not laughing you’re crying. Sometimes we do both at the same time.

Lily has yet to walk unassisted, but is “cruising” around holding onto furniture. She was late to roll (18 months), to sit unassisted (2 ½ years), and to pull to stand (5 years). Because she is so mobile now we have to blockade her into a “lily proof zone” in the living room. She has been involved in PT and OT since she was six months old and we have seen some incredible progress. Whether it’s struggling to pick up a toy, to step sideways along the couch, or to get a cheerio into her mouth, she does not give up. Lily perseveres, and that shows her character. It may take her longer to get there, to learn the skill, but that makes the feeling all the sweeter when she does. You never take anything for granted as the parent of an Angel. Every milestone is a reason to celebrate.

Lily had her first seizure at the age of one. We were told to expect them but we didn’t know what kind she would have. Lily gets “drop” seizures, or atonic seizures. She would be happily playing one minute, and the next go limp, and crumple to the floor. It was heartbreaking to see and very upsetting and scary for her sister. We have her seizures under control with multiple medications, which we give to Lily like clockwork. When she has a break through seizure we take precautions to keep her safe until they are under control again. I consider us lucky. The Angelman community has lost Angels because of uncontrollable seizures, and that is heart breaking.

My Angel has never spoken a word, but she talks all the time. I describe it to people as chirping, squealing, and squawking. She has no problem interrupting your conversation and sometimes we just can’t get her to zip it. I sometimes have dreams where she talks to me and her voice is tiny and sweet.

Lily is tiny, only thirty pounds. It’s hard for her to gain weight because she does not eat much solid food. She is fed mostly by bottle with the occasional pick-up of cereal or diced fruit thrown in. Her GI system is in chaos. It has always been this way. She has a hard time holding down her bottles, and the tiny amounts of solids are worse. It’s reflux, the doctors say. She will out grow it. Uhh….when? They said that at a year, at three. Now they admit they have no idea why her body reacts this way. Nothing abnormal in all of the studies. This is just the way she is. So, we manage. We do a lot of laundry, and I keep meaning to steam clean the carpet more often. Frustrating, yes. But hopefully, someday, she will be able to eat what she wants, whenever she wants it.

Lily rarely sleeps. I’m not sure how much she actually gets, but somewhere between 3to 5 hours a night. She sleeps in an amazing bed that is totally safe, big and comfy. It’s high on all sides so she can’t climb out. Angels are amazing climbers. She spends the night thumping and banging around in her bed, very content with her nightlights, and African lullaby music.

Lily loves music. Heavy metal, reggae, and classic rock. She loves to “feel” it. She enjoys a good cuddle, and is the only six year old I know that will watch two hours of HGTV with me and not complain. She is always on the go and must be watched at all times. I’ve turned my back for a second and she’s chewing on my shoes by the front door, or splashing around in the toilet. Nothing is sacred in our house. If it can’t get thrown in the washer, we don’t get it. If it can’t be wiped down with a Clorox wipe, it does not enter.

I live in a world where there is no such thing as a good night sleep, where there are sleepers that zip up the back and duct tape on diapers. Where there are bite marks on all my furniture and I have a real live sock monster (yes, Lily eats socks). In my world, we don’t save for Lily’s college fund; we save for her trust fund. We don’t have play dates, we have PT. I live in a world where my eleven year old knows the names and dosages of all her sisters’ medications. It’s a crazy world; hectic, loud and sometimes smelly. I love it here. Yes, sometimes it would be great if things were a tad easier but it’s nice here.

I have a husband who loves/puts up with me. I have two beautiful daughters. Hannah, who has learned early that things don’t always turn out as planned, that you make the most of what you’ve got and that everyone is a person and deserves respect. These are things I didn’t learn until I was older, they are hard and sometimes difficult lessons to learn but she has done amazingly well. She is Lily’s protector, her cheerleader and the only one who can get Lily to eat when she is sick. Sometimes Lily will do something to annoy Hannah and I will hear the, “Mom! Lily just drooled on my ipod! Get her away me!” and I will smile because it’s a wonderful thing.

Lily is an Angel. She is a sticky, smiling, energetic, loud, and sometimes annoying Angel. She does not listen. She kicks you hard to say hello. She may nibble on you if she likes you. She gives love unconditionally and you cannot help but love her back. She is perfect just the way she is and she has made us who we are.

Bron is sharing Lily's story in hopes that you will join her in supporting Foundation for Angelman Syndrome Therapeutics (FAST) and VOTE for FAST to win a much needed grant from Vivint Gives Back Project. Winning this grant would kick-start a clinical study in humans for an FDA approved therapy that has already reversed Angelman Syndrome in a mouse.

The Foundation for Angelman Syndrome Therapeutics (FAST) is an all volunteer organization dedicated to finding a cure for Angelman Syndrome.

A few weeks ago, Golden Globe winning actor Colin Farrell discussed Angelman Syndrome and his support of FAST on Late Show with David Letterman. The actor revealed that one of his sons has been diagnosed with Angelman Syndrome.
He asked viewers to support FAST and talked about the opportunity to secure research funding money through the Vivent Gives Back Project.

Click here or on the banner above to vote for FAST. Vote today and everyday until August 27th. For help or questions on voting, click here. 

Texas "Interest Lists" for Children with Special Needs

In Texas, there are waiting lists or "interest lists", for MCDP, CLASS, HCS...all medicaid waiver programs.  


Our son Joshua is now on the MCDP program, through it he receives Medicaid, respite care, diapers (after age 3), certain amount of money for equipment per year. We were able to install a lift on our van for his wheelchair through this program. I think the wait for this list is typically 3-5 years. If your child has severe medical issues, there is also a Ryder 28 program, that they can qualify for, to get into the MDCP program sooner. Sadly, a mom I know with a daughter with AS, was just told they did not qualify because her daughter would either have to have a feeding tube, multiple siezures per day, for the last 6 months, renal failure or on a vent. My Joshua got on through the Ryder 28 program, but back when it wasn't as strict as it is now. 

It's very sad that they make it so hard for someone who needs help so desperately! SO PLEASE, get on these lists as soon as possible! If I am out and even see a mom with a child with special needs at the mall ect. I make sure they know about these programs, because normally no one else tells you about them. Most often parents have to learn about them from another parent! I feel ECI worker's should be RESPONSIBLE to get parents signed up for these programs. If by the time your child's name comes up on the list and they are no longer delayed, then great, but they should inform parents EARLY on, especially parent's of children who are severely delayed. 

CLASS or HCS are the "granddaddy" programs, you get a MANY more respite hours, and therapies are included in both of those, such as horse therapy, aqua therapy, camp costs, ect...that are not paid for through MDCP. 

All three programs come with Medicaid attached. This can be your child's primary insurance only if your family does not have medical insurance. The way it normally works, is your family's insurance through your's or your spouse's employer would be your child's primary insurance and the Medicaid will become your child's secondary insurance. That is how it has worked in our family. It is great though, because, the primary insurance pays what it will and the secondary picks up the rest. We pay no co-pay's this way, which is very nice, especially for specialty doctors such as neurologist's and genetics, which normally have a higher co-pay. 


IF you have to pay for your family's medical insurance through your employer, many times you will qualify for the HIPP program. ASK ABOUT IT! Our family does not have to pay for our insurance through my husband's company, so we do not qualify for HIPP, but if you do pay, the HIPP program will reimburse you for the costs of your whole family's insurance, not only the child's. 

To get on the HCS "interest list" you call your local MHMR office and ask to talk to someone who can put you on the list.  I would call and say you are calling for an INTAKE appointment, you have to use those words or they will act like they have no idea what you are talking about.  That was my experience anyhow!  When you do your intake interview, they will ask you if you are on the list or not, and will do it for you then if you aren't.  

MHMR of Tarrant County

3840 Hulen Tower North

Fort Worth, TX 76107

Intake Phone: 817-569-4000 

Main Phone: 817-569-4300 

Website: http://www.mhmrtc.org/ (check the website for other counties)

To get on the MDCP and CLASS interest lists you call the DADS office, I'll give you the website links that explain more about each program. Here is the Region 3, Tarrant County # Region 3: 1-888-337-6377  (check DADS website for other counties)

A friend, just today, gave me the MDCP number in Austin, 1-888-438-5658, she called and asked to try to get on the Ryder 28 program. So try both numbers if one gives you the run around!

This one explains MDCP

http://www.dads.state.tx.us/providers/MDCP/index.cfm

This one explains CLASS

http://www.dads.state.tx.us/providers/CLASS/index.cfm

HCS

http://www.dads.state.tx.us/providers/HCS/index.cfm

You can be on all of the interest lists at the same time.  You just cannot be actually receiving more than one at a time.  So when our number comes up on the CLASS list, we'll drop out of MDCP, and the same with HCS.  

I hope this is some help to someone trying to navigate the "system".  

Love one another~ Yvonne

FAST Needs Your HELP NOW More Than EVER!

Dear FAST supporter,

Thanks to you, FAST still holds 1st Place in the Vivint Gives Back Project and stands an excellent chance to win the $250,000.00 Grand Prize. We would like you to know that these funds are currently earmarked to support a human clinical trial of an FDA approved compound that has already been shown to provide a relief of symptoms in the Angelman Syndrome mouse model.

Unfortunately, there are two organizations in the contest that have decided to team up and align against FAST to knock us out of first place. In fact, they are contacting most of the other contest participants and trying to convince them to all vote for Team Sanfilippo Foundation (currently in second place). We now need your help more than ever!!!! FAST is winning this contest because our community has worked hard; let’s make sure to keep up our hard work and re-double our efforts so that we come out on top!!!!!

If you have been voting every day, thank you!!! If you vote occasionally, please make sure to do it every day now – there are only two weeks left. If you haven’t yet voted, please start now – we need your help!!!!!! And if every single one of you could get your family and friends to vote with you every day until August 27th, we will prevail!!!!

For easy to follow voting instructions, visit www.HelpSaveTheAngels.com or visit www.CureAngelman.org.

The FAST team thanks you for your support and dedication to our cause!!!

Sincerely,
The Board of Directors
Foundation for Angelman Syndrome Therapeutics

Speechless Beauty

Love one another~ Yvonne

Don't forget to VOTE! Help Save The Angels

The prayer that NEVER fails...

Many of you know of my LOVE for the Mitford series.

During the stressful days of this contest, I have been able to read nothing else. It's a peaceful, sanctuary for me. Tonight, there a bit of stress, behind the scenes stuff that I am not able to go into.

It has made me realize that maybe God has put me in Miford, to steep there, for such a time as this.

Father Tim, the main protagonist, quotes a lot of scripture throughout the books, so I have memorized quite a few pieces, during my extended stay. He is also known to, throughout the series, say to others that all there is to do is "pray the prayer that never fails".

I am in my third reading of the series, over the past three months. Hearing that over and over again...

Tonight when things look bleak and I would normally be very upset, I instead find myself praying "the prayer that never fails".

Wondering what that prayer is?

Here it is, so simple, yet so powerful and at the same a surrender...Lord, YOUR WILL be done.

There isn't anything that I can hope for, that would be better than my God's will for my life.

If you haven't read the Miford series, do. You will be blessed, I can promise you that.

Overheard today: Lots of whining and toilet flushing. Joshua and I both have a stomach bug/headache. Lots of piano playing. Caylee has been playing piano to soothe her brother, he loves to hear her play hymns. My sweet girl has such a tender heart for her brother.

Love one another~ Yvonne

Don't forget to VOTE! Help Save The Angels!

Help Save The Angels!

Thanks so much to a great friend of FAST, Jellybean, friend of Marcel Cairo. Let's all help Jellybean out, okay?

Love one another...and VOTE for FAST!~ Yvonne

Hope is...

16 more voting days left.

So thankful for all who have stuck in this long and helped us to get where we are. Like Dory says "Just keep voting. What do we do, we vote, vote.." or was that swimming?

It only feel like the contest that never ends...

It's awesome to have the end in our sights.

Hopefully, on August, 27, 2011 we will have 250,000 reasons to celebrate!

Overheard today: Caylee is taking Joshua to potty before bed and he is a hooting and hollering in there, he really thinks going to the bathroom is a LOT of FUN!!! He cracks me up! I just stuck my head in there and said 'ewww it's stinky in here', and it's a good thing he's wearing a seat belt or he would have fallen right off of the pot!!

Love one another~ Yvonne

Looking For A Cure...

Beautiful things are happening!

Just can't get enough of seeing the FAST website on the screen of The Late Show with David Letterman! Pretty amazing! Almost as beautiful as Colin himself. ;-)

Our Angelman community is so proud of dad, Colin Farrell, for speaking out about his son, James, and Angelman Syndrome. The awareness that his appearance has created has been pretty outstanding so far. Even Alyssa Milano has tweeted about it, to her over 1 million, followers! Pretty cool!

I believe this is the year for Angelman Syndrome, for our kids!

A new blog has been created by a child with AS, well really his dad, but it's super funny and just one of the examples of our AS parent's and their super creative ways of fundraising. Check it out: Angelman Sucks, But I'm a Bad Ass, So Bring It On.

Keep voting!! We are over 12,000 votes ahead of 2nd place right now, but it's still so important to not let up now! Go to Help Save The Angels and vote every day until Aug. 27th~

Love one another~ Yvonne

Colin Farrell Speaks About Angelman Syndrome on Letterman

Colin did an outstanding job on the The Late Show with David Letterman tonight! Our whole community is buzzing, I imagine everyone can feel it right? ;-) We are all so very proud of Colin for speaking about his son, for conveying, so very well, what a joy and blessing and light our children are, and the urgent need for funding for research!

Thank you to David Lettermn, who asked the right questions of Colin, who took the time to make sure that the website was known by the viewing audience, and most of all for his genuine concern and interest!

If you are here because your internet search of Colin Farrell brought you here, please visit the Foundation for Angelman Syndrome Therapeutics to learn more about how you can help. Also visit Help Save The Angels and learn how just a vote a day until August 27th can help us win $250,000 for the much needed research that Colin spoke of, to CURE our children with Angelman Syndrome.





Thanks so much.

Love one another~ Yvonne

An Angel in our Midst...

An Angel in our Midst...

ORIGINALLY Posted by CRAP Mamma 

When we commence our parenting journey we hope and strive for the very best for our children.  We want them to be the best they can be. We dream about what they might become, who they might become, what they will accomplish in their lifetime. For Meagan, her hopes and her dreams for her daughter Molly faltered when her little girl was diagnosed with Angelman Syndrome just after her first birthday. Following this, Meagan’s dreams for her daughter became more simple, more basic, more grounded and all along the way she has had to fight to ensure that little Molly will achieve all of them.  

This is a raw and honest depiction of life with a beautiful special needs child. Driven to the depths of depression and despair then salvaged through self-determination, friendship and self-belief, Meagan tells her story of her fight to give her daughter a voice and to find her place in this world.

This is Meagan’s story of her beautiful daughter Molly……

Molly

Who is Molly?

Molly is the youngest of our two daughters; a tenacious, inquisitive and beautiful child, she’s just celebrated her fourth birthday. Just after her first birthday Molly was diagnosed with Angelman Syndrome. It rocked our world.

The Tough Road to Diagnosis

When we were on our way for our 6 month immunisations we stopped at the local supermarket. Molly was in the trolley baby capsule and we passed another mum with her little boy. He looked about Molly’s age and he was sitting and feeding himself a rusk. With our first daughter we religiously checked her progress in developmental books; with Molly we thought we were old hats! I couldn’t believe we had missed this!

When we compared her to the standard milestone checklist at her 6 month immunisations it really hit home that Molly was behind. So began an exhausting six month process of tests and assessments, paediatricians and specialists to determine the cause of Molly’s developmental delays. I had done a fair bit of Internet research and based on a few of her symptoms and behaviours I found Angelman Syndrome and discussed this with her specialists. It took four separate ‘discussions’ over a four month period to finally have the test done. My suspicions were confirmed.  

Significantly today marks three years to the day since Molly has been diagnosed. It's a day of mixed emotions....

When the whole process of diagnosis began I developed severe depression  which affected the way professionals regarded me – given the circumstances of course I was depressed but I still hadn’t lost sight of the fact that I needed to find answers for my daughter. I needed them to listen to me and to treat me with respect. Ironically Dr Harry Angelman, who discovered the syndrome, has often been heard telling his students “Your greatest ally is an observant mother – listen to her”. That’s some good advice. 

What is Angelman Syndrome?

Always quick with a smile...

Affecting between 1 in 15,000 and 1 in 20,000 children Angelman Syndrome is caused by one ineffective gene (ube3a). In Molly’s case she is missing a piece of DNA so small from Chromosome 15 that you can only see it through a high-powered microscope. The loss of that single gene means that she has a movement and balance disorder that affects her ability to learn to walk, although we hope that she will walk within the next few years with the assistance of therapy. Molly will never speak and she has severe seizures which can be difficult to control.  When she was younger she had problems with reflux and gaining weight so she had a gastric feeding tube put in her tummy which has only just been removed recently. One positive of this horrible syndrome is that Molly has a very happy disposition, she is very social and an absolute joy to be around.

The Guilt

I felt horrible when we started the path to diagnosis, and still did for some time after. I felt a terrible sense of guilt, like something I had done during my pregnancy had caused this. I’ve since discovered this isn’t true and 99% of the time AS is a random that doesn’t run in families. Regardless I re-lived things that had happened in my pregnancy trying to assign blame;  I also blamed myself for not seeing the developmental delays earlier.

Ultimately I had almost come to the unthinkable decision that my family would be better without Molly and me! Thankfully I confided in a friend and developed the strength, combined with anti- depressants to work my way through it.

For me, the best support was talking about it. It was so hard to talk to a lot of people close to me as they didn’t understand what I was going through but again – looking back, they wanted to help and didn’t know how. My GP was great (with me), he could see the signs that I was depressed and referred me to a therapist. Personally I found talking with others more beneficial than the therapist, there are online chat groups where you can remain anonymous and ask others questions. However there is a fine line between looking for answers online for all hours of the night and retaining some semblance of sanity.

After diagnosis, even with the knowledge that the condition is random and could happen to anyone, I wasted many an hour blaming myself – what if I hadn’t fallen pregnant that month? What if it had been another egg? What if? What if? What if?

I don’t believe that special people are given special children, or necessarily that things even happen for a reason; I tend to think that it’s just another of life’s dynamics. However what Ido know is that I would never give Molly back.

A Day in the Life of Us

When you asked this question my initial thought was –just like everyone else’s day - busy, crazy…

 Its only when I don’t have the kids around, or I see other families that I realise that life with Molly is almost like caring for a baby – a 15kg, 1m tall baby! I need to get her out of bed, take her to the toilet, feed her, bathe her, carry her and supervise her 24/7.

As for therapies - they are tedious. It is invasive to have someone else tell you how to teach your child things that should come naturally – but it’s also extremely necessary. Molly has speech, physio and occupational therapy. When we have time we try to fit in hydro therapy and we would eventually like to start horseback therapy as well. Therapies are what will help Molly reach her full potential. Unfortunately essential therapies like these are something a special needs mum often has to fight for with lack of resources across the board in Australia – just another job to do!

The impact of Angelman’s on Family Life

Like most families we are very, very time poor. We are often tired with Molly’s sleeping habits (some nights she might be awake for hours at a time and then still wake bright as a button!). Strangely enough – this is life as we know it.

We go about our day to day activities without giving too much thought to Angelman’s. Sometimes the fact that Molly has a severe disability is only highlighted by seeing the ease another young child learns new tasks (although I would never begrudge another mum bragging rights, and I never show my pain outwardly). Sometimes, her disability is made obvious to me by an ignorant stranger staring at her if she is communicating to me by making a loud noise, or telling me she is too big to be in a pram.

 

Sisterly love - Molly and her older sister Eva

 

One positive we have learned as a family is that we no longer sweat the little things. We have learned to be very appreciative of what we dohave, and not put too much worry into what we don’t. In the early days of diagnosis I worried for Molly’s older sister Eva. Eva started Prep this year and I am so proud of her, she is patient, understanding and an extremely compassionate little girl. Something that living with Molly and Angelman Syndrome has definitely taught her.

A Cure for Angelman Syndrome

At the moment there is not cure for Angelman’s. But (and I’m very aware that when I say this that some people look at me with pity; that I have false hope) I sincerely believe that we willhave a cure for Angelman Syndrome in Molly’s lifetime – and sooner rather than later. When I say a ‘cure’, I mean something to reverse the effects of the syndrome.

Research has only really started heating up in the last 10 years. We understand the syndrome and we know what causes it (there are a lot of conditions such as Autism where the cause is still unknown) and that’s really positive. There is an animal model that replicates the condition (enabling us to test scenarios and drugs) and the animal model has been cured. The scientific interest in Angelman Syndrome has risen tenfold in the last few years which is another indication that the finish line is near.

Unfortunately the main roadblock is money. Research isn’t cheap. Regardless, I look forward to the day that I hear my little girl tell me that she loves me.

Fighting for a Voice

When researching for our diagnosis as well as after Molly was diagnosed we noticed a huge void in information and support for families. We also found that a researcher in the US had “cured” Angelman Syndrome in mice and there was no research happening in Australia at all.

I set up a website called ‘Molly’s Voice’ and attempted to ‘talk through’ my wish list. I guess initially I was just putting it ‘out there’ into the abyss that is the World Wide Web. I also found it extremely therapeutic. Some goals that we set were to raise awareness in Australia as well as to promote research into AS. Another fundamental goal was to build a support network for Molly and to raise the profile of Rare Diseases.

Remarkably we now have a National Foundation, Foundation for Angelman Syndrome Therapeutics (FAST) Australia which is dedicated to raising funds for research into the syndrome in Australia.  I also now sit on the board of FAST in the United States. We now also have an active Queensland support group and since starting this journey we have held three annual awareness walks in Cairns for Rare Disease Day and I have recently returned from Perth where people from across Australia met with the mission to form a National body to advocate for those with Rare conditions.  Molly’s website has had over twenty five thousand hits and we receive and give support across the globe for the daily challenges of AS.

Advice to Other Parents

Don’t give up! You know your child better than anyone else. If you are not getting the answers you require, just ask and ask again. If you still aren’t getting anywhere, go to someone else and ask them. Don’t be too proud to medicate for depression, you have every right to be depressed but there is no shame in having a ‘crutch’ to help you through be it therapy, medication, whatever.  My best advice is probably the hardest to take when you are actually in the situation and it is often only seen in hindsight, however it is this - things willget better.

For me, I’m stronger now that any mum should need to be.  I’ve learned some tough lessons about life and people. I have learned to advocate and to stand up for the things I believe in, but most of all I have learned that love doesn’t need words. 

 

Meags and Molly.....

 Thanks so much to my dear friend Meagan for sharing her story x

For more information about Angelman Syndrome:

Foundation for Angelman Syndrome (FAST) Australia:http://www.cureangelman.org/au/

Molly’s Voice: http://www.mollysvoice.org/

Taken from ORIGINAL SOURCE: CRAP MAMMA - Creative Relaxed Approach Parenting  FABULOUS blog!!