I won't back down!

http://www.youtube.com/watch?v=68p1O09L_0w


On our way home from Kennedy Kreiger today Jeremy turned Charlie's favorite song on for him.  I'll never forget the day that Jeremy sat on Charlie's bed and opened the electric guitar with him.  I thought it was over the top for Charlie.  Until he started strumming and singing "Well I won't back down, no I won't back down, you can stand me up at the gates of hell and I won't back down."  Jeremy and I just looked at each other in disbelief!  And we realized right away it was from watching the movie Barnyard. 

Anyway, it occurred to me, listening to this song, that this is the perfect motivational song for a boy like Charlie.  Fragile X doesn't have him.  He is still very much an individual.  He is funny.  He is talented.  And and he is very cool.  And there isn't a thing about him that I would change.  I love him just the way he is.  I know he will never back down.  And I will be right there next to him cheering him on his whole life!  Him and his brother!  God bless them both.  I love them to pieces! 

Is It Autism, or is it Fragile X Syndrome?

http://www.autismtoday.com/articles/Is%20It%20Autism.asp

How many children have been diagnosed as Autistic without having the simple blood test to determine whether they have Fragile X Syndrome? If that is your child, run don't walk to your Doctor's office and request the blood test. Yes, there is a simple test to identify the difference. The correlation is remarkable and overlaps in many cases. For between 2% and 6% of all children diagnosed with autism the cause is the Fragile X gene mutation.1 Even more remarkable is the fact that between 15% and 30% of boys with Fragile X meet the diagnostic criteria for autism.2 Why is there so little public discourse concerning Fragile X when there is a diagnosis of autism? If you don't know much about Fragile X syndrome you are not alone. It is a relatively new area of study.   There is an entire spectrum of abilities for Fragile X Syndrome children and adults ranging from the learning-disabled to the very low functioning. Fragile X Syndrome is the second most common cause of retardation, but the range of functioning is broad with many strengths and weaknesses. Fragile X Syndrome is an X-linked hereditary disease affecting cognitive, physical, and sensory development. It involves genetic repeats found near the tip of the X chromosome.   There are many overlapping characteristics between Autistic and Fragile X Syndrome children. These include hand flapping, poor eye contact, repetitive, self-stimulating motor behaviors, as well as difficulty with social interactions, and poor play skills. The profile of Fragile X children with autistic features is visually indistinguishable from the children with autism and those without Fragile X Syndrome.   For young children these behaviors are easily identified, and cry out for appropriate educational settings and therapy for both autistic and Fragile X syndrome children. Multiple sources of information are critical, and that would include both medical and observational rating scales. It is important for children with Fragile X Syndrome to seek genetic counseling and access to treatments that have proven to be effective for these children. Some of the success stories involve the use of schedules, calming techniques, emphasis on functional language, visual cueing, and focusing on concrete experience based learning.

Dreaming big...

I saw a post just now that really hit home for me.  I've often wondered, how much happier would we be as a family if we moved somewhere costal where we lived off of the land.  We want our boys to be well adjusted.  I'm not sure they will ever "get" the concepts of our educational system.  They need basic education but more focus on life skills than education.  With my husband driving 50 miles each way to work and gone 12 hours a day, it doesn't feel "right".  I've gotten to where I don't care so much about what we drive, the house we live in, or any other material things in life.  I'm envious of a different lifestyle.  I don't know what that lifestyle is or how we would get there.  But I will keep praying to God to lead us down a path of an easier option.  I don't want to give up entirely on educating my children. I just don't want to live so close to one of the most expensive areas in the US that there is to live.  My husband grew up here.  I love Loudoun County.  It would be a dream to have a few acres and build out there.  But with gas, his commute, and everything being so expensive, am I crazy to dream of another option?  Winters are difficult (unless there is snow) because we don't get outside as much. 

My boys need to be active.  They need to be busy.  They are happiest during days like yesterday when Nana and Papi came to see us and went out on the boat with us.  We had a short day on the water but the joy of watching those boys do something they really liked was priceless.  Jeremy hurt his back getting the heavy battery into the boat and still scrubbed it down so that it would be clean for all of us.  He really enjoyed the day.  So did I.  And to have a mother-in-law who comes out to see us and brings dinner and plays with the boys is priceless.  And in two days we get to have that with Aunt Barb!  (Who spoils us too!)  Love you Nana, Papi, Johm Mimi, Casey, Aunt Barb, Aunt Roberta, Ray, Emily, Edward, Crystal, and the whole Miller family.  We are blessed to have such a wonderful family!

http://www.filefolderfun.com/

This site is dedicated to providing teachers and homeschoolers with fun, educational games for
free.  If you'd like to learn more about how to use file folder games in your classroom, please check
out our tutorials section. We are a Christian Homeschooling family, and file folder games have been an amazing help to our small budget for teaching supplies, so we started this website to help families.

We are a Christian Homeschooling Family living in Oregon! We have a 7 year old daughter "Sissy", and a 5 year old son "Bubba", a 1 year old little "Monkey", and another little boy coming Christmas 2010! (He's already in the picture above!)Our homeschool is very "Art" orientated, as we believe that creativity fosters learning.  Education wise, I have a Bachelors of Science in Psychology, and my husband has a Masters in Education......Which is all fine and dandy, and sounds real fancy..... But daily life with our children has been the most challenging, and rewarding "education" we've yet to receive.   We're blessed to be able to spend the extra time with them, helping to steer them towards the path that God has provided for them. We're taking our homeschool one day at a time, and we haven't made any long term commitments quite yet....but we're enjoying the journey along the way! You can read more about our daily homeschool life on our personal blog here:

 

Visit us atThe Crafty Classroom

  

What are you doing to encourage your children to read/listen to books this summer?

Summer Reading List:

1. Tip Tip Dig Dig
2.The Mixed up Chameleon
3. Pete the Cat and his White Shoes

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20 Books Read Equals

One Free Ice Cream!

 

 

 

Clemyjontri Park

http://friendsofclemy.com/playground.html

Clemyjontri Park features a unique playground where children of all abilities can play side-by-side. It is a playground where every child is welcome.

This park is a place where children who use wheelchairs, walkers or braces, or who have sensory or developmental disabilities, can have a parallel playground experience of fun and exploration.

At Clemyjontri...

• Ramps connect structures
• Swings have high backs, arm rests and special safety features
• Rubber ground surfaces are not-slip and allow wheelchairs to roll easily
• Lowered monkey bars provide easy access
• Equipment is designed to be sensory rich so all children can participate with peers
• Wider openings allows easy access to play structures
• Tent sails provide areas of shade in the playground and benches are located throughout the play area

The two-acre playground consists of 4 Outdoor "Rooms" surrounding a centerpiece carousel, as well as a large covered picnic area and restrooms.

The Rainbow Room: With rainbow archway, surface with colors of the rainbow and a variety of swings Accommodates all physical levels Integrates sign, Braille, pictures and language Teaches colors of the rainbow The Schoolhouse & Maze: With learning panels forming a maze that may be reconfigured Focuses on educational learning games Teaches where am I reading, maps and a globe Teaches what time it is using time zones and clocks  Movin & Groovin Transportation Area: Designed with transportation themed equipment such as a race track, motorcycles, planes, and trains Stimulates imagination Teaches balance and special skills Mimics true roadway situations Fitness & Fun: Includes the largest piece of play equipment along with various jungle gym components Stimulates imagination Progressive challenges for physical strength Energy burner Builds confidence

Monster Jam

                                     They loved it!!!!!!!                                   

Waiting for someone to reach a state of grace...

A wise woman knows the importance of speaking life into her man. If you love him: believe in him, encourage him & be his peace -Denzel Washington

State of grace:  Oneness with God.  Being open to receive his message.  A state of mind.  Recognizing the power of the sacraments.  Letting God do his works through you. 

How do we reach a state of grace?  By opening our hearts.  Starting with opening our hearts to God and then opening our hearts to others in our lives.  "Peace be with you" really means "I wish you a state of grace". 

It's not something that can be rushed or forced on someone.  But it is something that someone can see in you and for you to project that sense of inner peace.  It truly gives you the feeling that no matter what happens, above all, you have God.  And that is enough.  Even death for ourselves and for our loved ones.  While it may cause some pain and suffering, God knows the plan for each of us.  We have to trust in that plan.

Health concerns, financial strife, work and home stresses, the struggles we all face today...are all not a big deal if we do as God commands us to do.  Pray to him.  Ask for his grace. 

It doesn't automatically make anything go away but with a different mindset, it changes your way of thinking and therefore you place less emphasis on it.  Change has to occur step by step.  We have to change our way of thinking and make the correct choices in order to have control over the situation.

Yesterday at mass, Fr Escalante said if you want to grow closer to God, start with 1 Kings.  Look closely at how he did his works.  Trust fully that he is doing the same in your life.  What do you have to lose?  Do as he asks and pray to him about what is weighing you down.  Pray about the big things and pray about the little things.  He wants you to come to him in prayer.  Don't expect the changes to happen over night.  But trust that things will start to fall into place.  Open your heart.  Believe in him.  Trust in him.  Go to him.  He's there and waiting.      

An Experimental Drug’s Bitter End

NY Times!  Go Holly Usrey-Roos !!!!!!

http://www.nytimes.com/2013/06/07/business/an-experimental-drugs-bitter-end.html?pagewanted=all&_r=2&

Holly Usrey-Roos, right, with Parker, 14, and Allison, 10. Both have fragile X syndrome. Ms. Usrey-Roos said Parker was helped by the drug arbaclofen.

 

By ANDREW POLLACK

Published: June 6, 2013

Holly Usrey-Roos will never forget when her son, Parker, then 10, accidentally broke a drinking glass and said, “I’m sorry, Mom. I love you.”

Enlarge This Image

Daniel Acker for The New York Times

Ms. Usrey-Roos with her son, Parker. The experimental drug he took for years, she said, “opened the lid and let Parker out.”

It was the first time she had ever heard her son say he loved her — or say much of anything for that matter. Parker, now 14, has fragile X syndrome, which causes intellectual disability and autistic behavior.

Ms. Usrey-Roos is certain that Parker’s new verbal ability resulted from an experimental drug he was taking in a clinical trial, and has continued to take for three years since then. She said she no longer had to wear sweaters to cover up the bruises on her arms she used to get from Parker hitting or biting her.

Now, however, the drug is being taken away. It has not met the goals set for it in clinical trials testing it as a treatment for either autism or fragile X syndrome. And Seaside Therapeutics, the company developing it, is running out of money and says it can no longer afford to supply the drug to former participants in its trials.

The setback is a blow in the effort to treat autism since the drug, arbaclofen, was one of the furthest along in clinical trials. And the company’s decision has caused both heartbreak and outrage among some parents.

“I waited 10 and a half years for him to tell me he loved me,” said Ms. Usrey-Roos, who lives in Canton, Ill. “With fragile X, you’re like living in a box and someone is holding the lid down. The medication opened the lid and let Parker out.”

“I don’t want to go back to the way life was,” she added.

The situation raises questions about what, if anything, drug companies owe to patients participating in their clinical trials. It also points out the difficulties in developing drugs to treat autism and fragile X syndrome. If the drug worked so well in some patients, why has it not succeeded so far in clinical trials?

One reason is that the symptoms and behaviors associated with autism and fragile X vary widely among individuals, making it hard to capture the effects of a drug by looking at any one measure, like irritability or social withdrawal. Seaside and doctors who participated in the trials said that there were improvements in some aspects of behavior in some studies, just not those considered critical to a trial’s overall success.

But could it also be that the parents are deluding themselves into seeing changes that are not there? Could improvements be the result of the children simply growing older?

“It’s kind of hard to make the argument that the company should keep providing it if it’s not working,” said Dr. Michael R. Tranfaglia, medical director of the Fraxa Research Foundation, of Newburyport, Mass., which provides money for research on fragile X syndrome.

Dr. Tranfaglia, whose son has fragile X but was not in a Seaside trial, said arbaclofen appeared to significantly help about a third of patients. It also made some patients worse. Without being able to tell in advance which patients would benefit, it would be hard for the drug to succeed in a clinical trial and win approval, he said.

Similar situations have risen occasionally in the past. In 2004, patients with Parkinson’s disease protested when Amgen stopped providing an experimental drug that some patients said had restored their lives. Amgen said the drug had failed in a clinical trial and might even be dangerous.

Two patients even sued, but a court ruled the company had no obligation to continue to supply the drug to participants in its trials.

In the case of arbaclofen, parents are appealing to Congress and have started an online petition hoping to find financing for the drug’s development. They are also organizing through social media.

Seaside executives declined to be interviewed.

Until recently, Seaside, one of the few companies pursuing autism drugs, was considered a shining light by family members of those with the condition.

The company, in Cambridge, Mass., grew out of the research of Mark F. Bear, a neuroscience professor at the M.I.T. Its co-founder and chief executive, Dr. Randall L. Carpenter, has a sister with an intellectual disability.

As of a year ago, privately held Seaside had raised about $90 million. Most of it had come from the Barony Trust, run by the family of Peter Whipp, a wealthy Briton. But it apparently never was the plan for Mr. Whipp to carry the company indefinitely.

Last year, Seaside entered a partnership with Roche, the Swiss pharmaceutical giant, which provided an undisclosed amount of money in exchange for intellectual property rights covering a different class of autism drug and an option to license arbaclofen.

But given the failures in the clinical trials, Roche says it has decided not to license arbaclofen, apparently ending financial support for studies of the drug.

“We concluded that arbaclofen wasn’t going to provide that real difference for patients,” Luca Santarelli, head of neuroscience research at Roche, said in an interview.

Dr. Bear of M.I.T. said he was hopeful new financing could be found. He said the company was started to help families, “not a play to make money.”

He added, “I think the signs are sufficiently encouraging. It would be really tragic if we abandon this now.”

On May 1, Seaside announced that arbaclofen, which is also known as STX209, had not met the main goal of reducing social withdrawal in a 150-patient midstage study of children and young adults with autism. But the drug did succeed on a different measure — the clinicians’ assessment of the patients.

The drug had previously failed in a Phase 2 trial for fragile X, which is caused by a mutation in a gene on the X chromosome and affects about 100,000 Americans.

In that trial, the main goal was to reduce irritability. While it did not do that, it appeared to ease social withdrawal. So Seaside began two Phase 3 trials for fragile X, one for young children and one for adolescents and adults. This time, social withdrawal was the main measure.

But the company said recently in a letter to parents that the trial in adolescents and adults had not succeeded. Results from the trial of children should be known this summer.

In the middle of May, Seaside told doctors and patients that because of “resource limitations” it could no longer supply the drug. “We know that this termination will be disruptive and disappointing for many families,” executives said in a letter to parents.

That is putting it mildly. Christina Murphy of Holton, Kan., wrote on the Web site stx209stories set up by families wanting the drug back, that her 11-year-old son Rhett, who has fragile X, made friends for the first time ever once he started taking the drug and sang in the school talent show, overcoming his usual fear of crowds and getting a standing ovation.

“I had never in my life witnessed something like that,” she wrote. “There was hardly a dry eye among the adults in the room. I have never seen him so happy in his entire life as when he finished that song and looked out at the crowd.”

Only a few hours later, she learned that the drug would be taken away. “I am sad, I am hurt and my heart is breaking,” she wrote.

Parents and patient advocates say there could be 300 patients or more taking the drugs. Some say they were promised the drug would be available until it reached the market or was totally abandoned as ineffective.

“When I found out, I went upstairs to my husband. I was crying so hard he thought someone had died,” said Cortney AbouElSeoud of Holt, Mich.

Ms. AbouElSeoud said her 5-year-old son Ayden, who has fragile X, spoke only a few words before entering the trial last October. Now he is up to 50 words. “He talks to us and answers us,” she said. “It’s crazy and awesome to see him emerging into a little person.”

Some parents say that they feel betrayed by Seaside and that the company has not communicated enough.

“I believe I, along with many others, are entitled to a better explanation of why our lives are being turned upside down,” Lori Armer of Newport News, Va., wrote on a Facebook page for families weaning their children off arbaclofen. She and other parents wrote on the site that behavioral problems were returning as the drug dosage was reduced.

There are some options. Arbaclofen is a derivative of baclofen, a generic muscle relaxer that is already on the market as a treatment for spasticity. While there is some evidence that arbaclofen is more potent, some parents are turning to baclofen.

Others hope to enroll their children into trials of other drugs for fragile X and autism being run by Roche and Novartis.

Ms. Usrey-Roos, who works for the National Fragile X Foundation, based in Walnut Creek, Calif., said she was hopeful that if one drug worked, another might, too.

While sad that the study ended, she said, “I’m still thankful for this experience. It has given me such hope.”

Facebook groups...

Check them out!

https://www.facebook.com/groups/189561464532499/?fref=ts
https://www.facebook.com/FragileXAndAutismFamiliesForStx209

Check out this site too!

http://stx209stories.com/

And these blogs...

http://www.fragilexfiles.com/
http://ourfxjourney.blogspot.com/
http://myfragilexboy.blogspot.com.au/
http://famigliagrande.blogspot.com/
http://lifewithmyxmen.blogspot.com/

Common gene known to cause inherited autism now linked to specific behaviors

UCLA researchers find abnormal brain networks in Fragile X syndrome

By Mark Wheeler June 03, 2013 Category: Health Sciences, Research

The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the damage it does in misshaping the brain's synapses — the connections between neurons. But how this abnormal shaping of synapses translates into abnormal behavior is unclear.

 

Now, researchers at UCLA believe they know. Using a mouse model of Fragile X syndrome (FXS), they recorded the activity of networks of neurons in a living mouse brain while the animal was awake and asleep. They found that during both sleep and quiet wakefulness, these neuronal networks showed too much activity, firing too often and in sync, much more than a normal brain.

 

This neuronal excitability, the researchers said, may be the basis for symptoms in children with FXS, which can include disrupted sleep, seizures or learning disabilities. The findings may lead to treatments that could quiet the excessive activity and allow for more normal behavior.

 

The study results are published in the June 2 online edition of the journal Nature Neuroscience.

 

According to the National Fragile X Foundation, approximately one in every 3,600 to 4,000 males has the disorder, as does one in 4,000 to 6,000 females. FXS is caused by a mutation in the gene FMR1, which encodes the fragile X mental retardation protein, or FMRP. That protein is believed to be important for the formation and regulation of synapses. Mice that lack the FMR1 gene — and therefore lack the FMRP protein — show some of the same symptoms of human FXS, including seizures, impaired sleep, abnormal social relationships and learning defects.

 

"We wanted to find the link between the abnormal structure of synapses in the FXS mouse and the behavioral abnormalities at the level of brain circuits. That had not been previously established," said senior author Dr. Carlos Portera-Cailliau, an associate professor in the departments of neurology and neurobiology at UCLA. " So we tested the signaling between different neurons in Fragile X mice and indeed found there was abnormally high firing of action potentials — the signals between neurons — and also abnormally high synchrony — that is, too many neurons fired together. That's a feature that is common in early brain development, but not in the adult."

 

"In essence, this points to a relative immaturity of brain circuits in FXS," added Tiago Gonçalves, a former postdoctoral researcher in Portera-Cailliau's laboratory and the first author of the study.

 

The researchers used two-photon calcium imaging and patch-clamp electrophysiology — two sophisticated technologies that allowed them to record the signals from individual brain cells. Abnormally high firing and network synchrony, said Portera-Cailliau, is evidence of the fact that neuronal circuits are overexcitable in FXS.

 

"That likely leads to aberrant brain function or impairments in the normal computations of the brain," he said. "For example, high synchrony could lead to seizures; more neurons firing together could cause entire portions of the brain to fire synchronously, which is the basis of seizures."

 

And epilepsy, Portera-Cailliau said, is seen in up to 20 percent of children with FXS. High firing rates could also impair the ability of the brain to decode sensory stimuli by causing an overwhelming response to even simple sensory stimuli; this could lead to autism and the withdrawal from social interactions, he noted.

 

"Interestingly, we found that the high firing and synchrony were especially apparent at times when the animals were asleep," said Portera-Cailliau. "This is curious because a prominent symptom of FXS is disrupted sleep and frequent awakenings." 

 

And, he noted, since sleep is important for encoding memories and consolidating learning, this hyperexcitability of brain networks in FXS may interfere with the process of laying down new memories, and perhaps explain the learning disability in children with FXS.

 

"Because brain scientists know a lot about the factors that regulate neuronal excitability, including inhibitory neurons, they can now try to use a variety of strategies to dampen neuronal excitation," he said. "Hopefully, this may be helpful to treat symptoms of FXS."

 

The next step, said Portera-Cailliau, is to explore whether Fragile X mice indeed exhibit exaggerated responses to sensory stimuli.

 

"An overwhelming reaction to a slight sound or caress, or hyperarousal to sensory stimuli, could be common to different types of autism and not just FXS," he said. "If hyperexcitability is the brain-network basis for these symptoms, then reducing neuronal excitability with certain drugs that modulate inhibition could be of therapeutic value in these devastating neurodevelopmental disorders."

 

Other authors on the study included Peyman Golshani of UCLA and James E. Anstey of the Oregon Health and Science University School of Medicine. The research was funded by grants from the National Institutes of Health (NICHD R01HD054453 and NINDS RC1NS068093), the FRAXA Research Foundation, and the Dana Foundation.

 

The UCLA Department of Neurology, with over 100 faculty members, encompasses more than 20 disease-related research programs, along with large clinical and teaching programs. These programs cover brain mapping and neuroimaging, movement disorders, Alzheimer's disease, multiple sclerosis, neurogenetics, nerve and muscle disorders, epilepsy, neuro-oncology, neurotology, neuropsychology, headaches and migraines, neurorehabilitation, and neurovascular disorders. The department ranks in the top two among its peers nationwide in National Institutes of Health funding.

Charlie Miller and stx 209

For the first time in his life, Arbaclofen gave him the ability to hug us and tell us he loved us.
His coping skills were better in regard to transitioning.  He was less shy.  He was less emotional.  He was less aggitated.  He had stopped running away from me.  He hadn't bit me or pulled my hair.  He was far less concerned about having to go to the doctor.   He wanted to socialize with people in public.  He wanted to go to school.  He didn't tell me no. He followed commands better.  He seemed to learn easier.  Potty training went better.  He could cope better with being told no.  He smiled more.

His last dose was 3 days ago.  It feels like we are missing something really important by not giving him the tiny little pill to chew that helped him so much!

We will find another trial.  We will move on.  Just sucks to have to start all over again.  But we were blessed to be a part of stx 209.

Recent pictures

He loves music!

After walk

Success at school special

 Succeschool

"Blocking CB1 cannabinoid receptors with the Rimonabant pharmaceutical drug normalizes cognitive alterations"

http://medicalxpress.com/news/2013-04-therapy-fragile-chromosome-syndrome.html

Researchers discover new therapy for fragile X chromosome syndrome April 10, 2013 in Medical research Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease. "Clearly, a cure as such is not going to be achieved, as it involves a disease of genetic origin, but the fact that, by manipulating in a certain way at a cerebral level in order to obtain an improvement in the symptoms of the disease is something highly positive", stated Ms Susana Mato, researcher at the Department of Neurosciences at the UPV/EHU and at the Achucarro centre. This scientific finding has just been published in Nature Medicine.                                                

 Enhancing the Quality of Human Life The Future of Stem Cell Therapy

Fragile X chromosome syndrome (FXS) is the most frequent known cause of inherited mental retardation and disorders in the autistic range. It involves a genetic disease, with an incidence in Spain estimated at 1 in every 4,000 individuals. The syndrome arises from a deficit in the expression of the FMRP protein (fragile X mental retardation protein), which plays a fundamental role in the regulation of the neuronal function. Patients with FXS present mental retardation, attention deficit, anxiety, self-harming and autistic behaviour, hyposensitivity to pain and a high rate of epileptic crises. All these anomalous neuronal expressions are regulated by the endocannabinoid system. The research, using genetically modified mice that lacked FMRP protein and that partially reproduced the symptomatology of fragile X chromosome syndrome in humans, have shown that blocking CB1 cannabinoid receptors with the Rimonabant pharmaceutical drug normalizes cognitive alterations, sensitivity to pain and epileptic crises.

This finding suggests that the administration of pharmaceutical drugs that block the function of the cerebral endocannabinoid system may well be a chnew strategy for treating patients with fragile X chromosome syndrome. Rimonabant pharmaceutical drug has been on the market for some time "for the treatment of obesity", explained Ms Mato. "Then, however, it was used in much higher doses and these high dosages gave rise to certain psychiatric problems, and this is why it was taken off the market". Nonetheless, it involves a drug which "has been used a lot in preclinical research into the endocannabinoid system, and its action mechanism is very well established". The next step, Ms Mato pointed out, should be "to better characterise the action mechanism of this treatment, and test the various dosages to see what would be the optimum one to normalize the deficit.

And the following stage would be the clinical trials. In fact, we believe this would be relatively feasible, because as it has already been marketed, all that preclinical stage regarding toxicity of the drug for humans has been undertaken, and it is a relatively safe pharmaceutical drug". Although Ms Mato considers it to be a great advance that it has been shown in animal models that "the cognitive deficit caused by the disease has been normalised to a certain extent", she is aware that it could be that "the clinical trials do not produce such good results, as it is common for this to happen when developing therapies for psychiatric disorders". More information: Busquets-Garcia, A. et al. Targeting the endocannabinoid system in the treatment of fragile X syndrome. Nature Medicine doi:10.1038/nm.3127

Read more at: http://medicalxpress.com/news/2013-04-therapy-fragile-chromosome-syndrome.html#jCp

A message from my husband....

Corry and I are sitting here getting ready for our walk tomorrow and looking over our site and we are completely overwhelmed by your generosity. When I sent out the email asking for donations in all honesty I felt bad about doing so and would have been completely fine with nobody donating. Much to my suprise you all have helped us raise over $3,400 in just a couple of weeks for what we of course think is the best cause out there, and as of a few minutes ago the donations are still coming in. I just wanted to say thank you one more time before we head out to the walk to everyone for helping us absolutely crush our goal and helping to ensure that things like the drug trial that has helped Charlie so much over the past 6 months continue to come available.

Fragile X is the number 1 inherited cause of intellectual disability. However, since the exact mechanism that causes Fragile X has been identified and since it is a genetic defect in a particular gene in the X Chromosome, it is curable and will eventually be cured, so your donations will not be wasted.

We have had a lot of ups and downs over the past couple of years as we found out about and began dealing with what is going on with the boys, and I can't express with words how much it means to find out that we have this much support. Thank you all not just for your donations but also for your kind words and for your thoughts and support.

Jeremy


http://www.crowdrise.com/CharlieMason

I'm not mad! (About STX 209 being cancelled)

How could I be mad?  I got to experience my son in a different light for 6 whole months.  All because Seaside Therapeutics spent their money on our child duing the trial.  That's a blessing.  When there is so much to focus on in terms of things to work on improving for my sons, I have to take all the blessings I can get!  Someone paid to let my child take an experimental drug that helped him!  Soak that up for a bit.  Drugs cost lots of money to bring to market.  We were lucky enough to be on the experiment side of arbaclofen.  If it gets to the market stage, the drug company deserves to make a lot of money.  They invested a lot of money! 

Just like the school situation.  Charlie had developed (all as a part of fragile x) difficult behaviors prior to our participation in the trial.  In fact, he was getting suspended for aggression (towards staff, never another child).  He had difficulty transitioning and there were many cases where proper training on de-escalating the behavior by redirection would have helped him.  My husband found out about the trial, we got him on the arbaclofen, and followed the protocol.  Given it was double blind, we weren't sure that he was getting the drug.  Although he started showing affection and actually offering to tell us he loved us and hugging us!  During the end of the trial when they titrate down, we realized just how much Charlie had benefited from the drug!  He hit a wall in terms of ability to be taught, to control his impulses, and to inhibit his aggression.  We had to take a month off of school for time to get Charlie ramped back up on the arbaclofen and overcome all of the behavioral issues.  We did so and noticed good results.  We also made the very difficult decision of starting him on Abilify for his hyperactivity, aggression, and impulsive behavior .  He was displaying less of these behaviors but still not free from them.  Abilify really helped!  We wanted to get him back to school.  Instead what we were offered was two days a week at 1/2 each session, OT/ST treatment and then PT treatment.  Totaling an hour a week.  We agreed given the BCBA was present and they could see that Charlie was in fact, doing fine and could be socialized again.  After all, he hadn't shown any signs of aggression.  It was then that the principal said she was afraid to let Charlie come back to kindergarten even with the BCBA present!  We were not happy.  We spoke with another very involved and self advocating as well as support to other parents with special needs families, mother of a child at our school.  She spent two hours on the phone with us and we had never met her before this call!  Then she wrote a very supportive email.  Our developmental pediatrician also wrote an email saying, "Hello!  You can't deprive a special needs child of his education.  Especially with an IEP and BIP in place!".  And it all worked.  (Failing to mention ALL that we did to pull strings on pupose here.)

But guess what?  We weren't mad after we noticed they did everything we asked for!  We went to the IEP expecting some resistance.  There was none!  They agreed with us!  They agreed to let Charlie attend lunch with his classmates prior to therapy (with the BCBA present.)  And to 15 hours a week of ABA therapy with trained staff at Grafton at their location and therapy on the side, for the summer.  And the therapists might even be able to come to the Grafton office rather than me having to take him to the school!  Oh and not just the ESY summer, all summer! 

So tying these two situations together, lets look at why having a good attitude can help...

1) Because our children mimic what they see.
2) We need to treat others the way we want to be treated.
3) Realize that others do want for your child what you want for your child.
4) Being grateful goes a long way!
5) Not being demanding helps you to maintain control of the situation and helps with your case of asking what you want to get.
6) You can meet great people along the way and build relationships with them based on your outlook and theirs.  That can translate into having meaningful deep friendships!
7) The school staff/trial staff will look out for you more if you treat them well!
8) You stand out to others by projecting positivity.
9) You feel good about yourself and who you are. 
10) SHOULD Go in #1 spot!  Because God is present in our lives!

So I hope this inspires anyone who is having trouble with this transitional time.  It's meant to inspire you.  We don't have it easy.  Some of us have FX times one, two, three, or even four.  Some of our FX kids hurt us or others.  Some cannot do for themselves as a typical child can.  But the common thread here is that we learn from one other and inspire one another. 

Day 5 on 5 mg's

Increased aggitation.  Bit me when we were trying to get him to go into the school to do his therapy.  Bit me when we were leaving.  Bit me when we left the Grafton office.  Pulled my hair several times.  Tough day!  At least we made our cute frog rocks earlier!  Now to get him to nap so I get a breather.  Wish me luck.  He is bouncing off of the walls and talking to himself.  Praying.....

Two lazy frogs song

 I know this will be stuck in my head!  Oh well, the kids will love it!

Today's craft...

Frog rocks!

Frog life cycle

SSI

https://secure.ssa.gov/apps6z/i3820/main.html

Has anyone else gone through this process?  I understand that we won't qualify based on income but after getting that initial rejection, supposedly I can re-apply based on the boys FX diagnoses.  Kicker is be ready with ALL documentation from every doctor you have ever seen for your child. 

Any advice?  Please comment!

Dr Polly Panitz

I recommend getting a good Developmental Pediatrician.  If her bio helps, than great! 
http://www.capitalareapediatrics.com/Public/PediatriciansPage.aspx

Dr Atmore at the Children's Autism Center in Rockville, MD

http://www.childrensnational.org/findadoctor/profiles/kathleen-atmore-2053.aspx

Pete the Cat I love My White Shoes

This book is so cute!  I want more of these books! 

Pete the Cat goes walking down the street wearing his brand new white shoes. Along the way, his shoes change from white to red to blue to brown to WET as we steps in piles of strawberries, blueberries and other big messes! But no matter what color his shoes are are, Pete keeps movin' and groovin' and singing his song...because it's all good.
Ages: 3 - 7

• http://www.ericlitwin.com/
• http://www.petethecat.com/

free songs:  http://www.harpercollinschildrens.com/books/Pete-Cat-Love-My-White-Shoes/?isbn13=9780061906220&tctid=100

Common sense media

http://www.commonsensemedia.org/

 

Our Mission

Common Sense Media is dedicated to improving the lives of kids and families by providing the trustworthy information, education, and independent voice they need to thrive in a world of media and technology.
We exist because our nation's children spend more time with media and digital activities than they do with their families or in school, which profoundly impacts their social, emotional, and physical development . As a non-partisan, not-for-profit organization, we provide trustworthy information and tools, as well as an independent forum, so that families can have a choice and a voice about the media they consume.

Our 10 Beliefs

1. We believe in media sanity, not censorship.
2. We believe that media has truly become "the other parent" in our kids' lives, powerfully affecting their mental, physical, and social development.
3. We believe in teaching our kids to be savvy, respectful and responsible media interpreters, creators, and communicators. We can’t cover their eyes but we can teach them to see.
4. We believe parents should have a choice and a voice about the media our kids consume and create. Every family is different but all need information.
5. We believe that the price for free and open media is a bit of extra homework for families. Parents need to know about the media their kids use and need to teach responsible, ethical behavior as well as manage overall media use.
6. We believe that through informed decision making, we can improve the media landscape one decision at a time.
7. We believe appropriate regulations about right time, right place, and right manner exist. They need to be upheld by our elected and appointed leaders.
8. We believe in age-appropriate media and that the media industry needs to act responsibly as it creates and markets content for each audience.
9. We believe ratings systems should be independent and transparent for all media.
10. We believe in diversity of programming and media ownership

Here's my sons favorite show: How to Train Your Dragon: Riders of Berk
http://www.commonsensemedia.org/tv-reviews/dragons-riders-of-berk


Movies- The Croods!  Can't wait for this on video.  We loved it in the theater!

Shows: Super Why!  This is popular at my house!

Games: The only game I've gotten Charlie to play for a few minutes.

http://www.commonsensemedia.org/game-reviews/digging-for-dinosaurs


DRUMROLL! Most popular and I'm proud of it is.....Veggietales