He’s Got the Look

I wanted to hug my new family doctor yesterday. We were talking about Matty not being comfortable with doctors and medical buildings.

Here’s the conversation:

Kevin:  He has fragile X syndrome so he isn’t very comfortable here.  He doesn’t like doctors.

Dr. A:  I saw him and thought fragile X.  He has the look.  I just didn’t want to say anything.  It’s no wonder he don’t like it here.

Beth:  Oh it’s okay.  We love it when people, especially, medical people know what fragile x looks like!!

Dr. A:  (talking to Matty) Well how about we get you a sucker as soon as I’m done here.

Matty:  (in a very soft voice) uh huh!

I was so excited that a doctor could look at my son and KNEW what he had.  She admitted that she knew little about it but just the fact that she knew that much was amazing!!!  Matty has 4 more years with his pediatrician and I know feel comfortable making the switch to this doctor when the time comes.  I know I will be able to provide her with information from the NFXF and she will be grateful for it.  Like his pediatrician, I can see her studying fragile x so she could provide the best possible care for Matty.  Sweet!!

Oh and Matty did get to pick out a sucker after his appointment.  He actually smiled at the doctor once he picked it out!!

Closer to a Cure

I am still a bit anxious about the thought of finding a cure for fragile x syndrome.  I hit on some of my issues in my Trepidation post back in July.  I also go between thinking that God gave me Matthew and Rachel like they are for a reason, and that God created the science to find this cure for a reason.  Irregardless of my issues with it, here is a news release from Katie Clapp with Fraxa on how researchers are closer to a cure for FXS.

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Researchers Reverse Key Symptoms of Fragile X in Mice In the December 20thissue of Neuron, MIT researchers Mark Bear, Gul Dolen, and others, along with Sumantra Chattarji of India’s National Center for Biological Sciences, show that they can correct major symptoms of Fragile X by reducing expression of a single receptor in the brain. This receptor, a protein called mGluR5, is a prime target for drugs to treat Fragile X – and possibly autism – in humans.The findings support the theory that key Fragile X symptoms – learning disabilities, autistic behavior, and seizures – stem from too much activation of one of the brain’s chief network managers – the metabotropic glutamate receptor mGluR5. People with Fragile X lack a protein called FMRP(Fragile X Mental Retardation Protein). This study found that FMRP and mGluR5 are at opposite ends of a kind of molecular seesaw. They keep each other in check, and without FMRP, mGluR5 signals run rampant. To test this theory, the researchers knocked out one of the two copies of the mGluR5 gene in mice already lacking FMRP. The mice lacking FMRP showed many of the symptoms observed in humans who have Fragile X. By knocking out one copy of mGluR5, the researchers created mice that produced only half the normal amount of mGluR5 protein, hoping to compensate for the lack of FMRP and eliminate symptoms of Fragile X.”We decided to reduce the mGluR5 levels by 50 percent to reflect what might be a therapeutically relevant condition that would be achievable with carefully titrated drug treatment,” said Bear. “Total knockout of mGluR5 has deleterious effects, whereas reducing it by half is innocuous.”The researchers found that reducing mGluR5 eliminated many symptoms of the disorder. Like humans with Fragile X, mice without FMRP experience seizures, impaired memory, and accelerated body growth. When mGluR5 was diminished, these problems were corrected.Reducing mGluR5 also compensated for changes in the brain associated with increased protein synthesis. With less mGluR5, the brain of each mouse no longer formed an excessive number of neuronalconnections. The mice did not have the high density of dendritic spines that is characteristic of Fragile X syndrome. Furthermore, the total rate of protein synthesis was reduced to normal levels in the brains of Fragile X mice with reduced mGluR5.The researchers used genetic engineering to reduce mGluR5, but the same thing could be accomplished by a drug. Pharmaceutical companies have already developed experimental drugs that block mGluR5. Clinical trials are underway, but none of the drugs has yet been approved for humans.These findings may lead to further targets for drug discovery, since scientists can now study other drugs which affect other elements of the brain’s mGluR pathway. It should be possible to identify biomarkers, substances which can be measured in the blood, which can identify changes in the function of the mGluR pathway in people with developmental disorders. Through biomarkers, other people with autism and developmental disorders who do not have Fragile X, but do have abnormalities in this pathway, can be identified. It is likely that these individuals would respond to many of the treatments currently being developed for Fragile X.FRAXA has provided funding for the work of Mark Bear and colleagues every year since 2000 and also funds Sumantra Chattarji . FRAXA is now working with several companies to help speed development of mGluR5 blockers to treat Fragile X. Stay tuned for future announcements!

Doris Buffett Challenge News

Great news!  The Doris Buffett Challenge has been met and revised all in one day!  Here is the emails that were sent to the listserv from Katie Clapp at FRAXA.

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Dear Listserv friends,

We just got the most exciting news … I have chills. Everyone has done such an amazing job raising money toward the Doris Buffett Challenge, and Doris is so impressed with the fragile X community, that today she decided to change the challenge.

Doris Buffett will now match EVERY new dollar raised for FRAXA by November 1st!!! The original challenge was to raise $500,000 in new money. Now there is NO limit – she will match all new money! $486,297 is what we’ve received so far and there are a whole bunch of events planned for October.

Just think how much this will boost fragile X research!

Please help us spread the news — we may never have another chance this good to change the future for our children!

Katie

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If anyone wants to send a thank you or drawings from your kids to Doris Buffett, please send them to me at FRAXA and we’ll make sure she gets them on October 4th.

I just checked the total and with today’s mail, we’ve raised $500,000 for the Challenge!

Katie

here’s the address:

FRAXA Research Foundation, 45 Pleasant Street, Newbury Port, MA  01950
 
 

Young Campers Sail Against the Wind

A sail training program touches the lives of many including a fragile x boy:

Original article here

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Young Campers Sail Against the Wind
Artful Sport Focuses, Opens Up Youths With Learning Disorders

By Matt Zapotosky
Washington Post Staff Writer
Sunday, August 5, 2007; SM01

Tim Hodge’s long red hair blows away from his freckled face as he works the sail on a 14-foot boat on the St. Mary’s River. His eyes gaze intently up at the sail while fellow sailor Tobin Cooper steers.

It’s not the kind of focus one would expect from a 13-year-old with an attention-deficit hyperactivity disorder.

In fact, it’s hard to tell that the Brendan Sail Training Program is a sailing camp for kids with learning disabilities.

The wind and water seem to bring out the youths’ social sides, although many have autism and attention-deficit hyperactivity disorder. They chatter away with one another at lunch, man the sails and rudders intently and speak eloquently about sailing.

At least as eloquently as can be expected from teenagers.

“It’s just fun to be outside,” said Tim, of California. “It’s just so cool.”

The Brendon Sail Training Program, offered both in Annapolis and at St. Mary’s College of Maryland, was founded 23 years ago by Jim Muldoon, now the chairman of the board of trustees at St. Mary’s College. This year, 14 campers were at the St. Mary’s session, which ended Friday.

Muldoon said he was inspired to create the program when he watched his 13-year-old son who, despite a learning disability, taught the crew members on his racing sailboat how to sail.

“This kid doesn’t know right from left, and he’s telling them port from starboard,” Muldoon said. “This is a skill that you learn by feel, by intuition, by response, and it’s not something you have to read [in] a book or study. What it has done is give these kids so much confidence.”

Both the children and parents involved in Muldoon’s program beam when talking about it. Tobin, 13, said he likes talking to his friends on the boat even more than sailing.

“It’s just fun because you get to make friends,” he said.

And that can be a significant step for some of the kids, said Lisa Kelley of St. Mary’s City. Her son Dillon is autistic and has Fragile X syndrome, a genetic disorder that can lead to mental retardation. Dillon, she said, usually has trouble making friends because of his awkward social mannerisms, but that isn’t the case at camp.

“The amazing thing about this camp is that he is one of the guys,” she said.

Dillon, 14, is the camp’s social butterfly. As he fidgets nervously with a water bottle, he brags to other campers and instructors about his 250-foot golf shot, and he says that he has never capsized when sailing.

His reason for liking sailing, echoed by many of the campers: “It’s just awesome.”

Denial Won’t Take Care of the Problem

Here is Sally Nantais article for August.  I know I promised to not speak of the Chris Benoit tragedy again but since I didn’t write this I think that counts….right? 

I truly understand what Sally is talking about.  I was never in denial but I had an aunt that was.  She swore that those of us in the family that had fxs children were being punished by God.  (I truly believe that my fxs children have been a blessing from God)   She denied to the schools that there were any mentally handicapped people in the family when there were actually two very obvious individuals.  Years later she learned her daughter had the full fragile x mutation.  Her denial had been so great for so many years that she was greatly ashamed of this.  She moved two states away from her hometown because “what would the neighbors think?” 

Well, I had met my cousin when I was 17 and she was 4.  I knew right away something was not quite right.  She ran in circles, talking to herself and flapping her arms.  I knew nothing of fxs then.  It would be two more years before I did.  I questioned my grandmother on her and she told them that it was just stress.  I knew better but I was too young to even think of what it could be.  So when I learned my cousin also had fxs, almost 10 years later, I wasn’t too surprised.  And if a teen-age girl could spot something amiss I’m sure my aunts neighbors already knew too.  People do take genetic anamoly’s very different.   

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By Sally Nantais, published August 5, 2007, The News-Herald

 

I don’t believe in hiding or ignoring the truth. I don’t believe in pretending to be someone I’m not or pretending to like something I don’t.

 

Some of you may have followed the Chris Benoit tragedy, the professional wrestler who took the lives of his wife, his seven-year-old son and finally himself. The ensuing media frenzy surrounding the family, “roid rage” and Fragile X was extreme.

 

One word that could define some of the Benoit family’s reactions is “denial”.

 

After the killings, there were debates as to whether the seven-year-old son was ever diagnosed with Fragile X Syndrome.  In the aftermath, it struck me as odd that the family would be so concerned with this matter.  

 

I won’t debate if young Daniel Benoit did or didn’t have Fragile X but I can tell you that a diagnosis of a genetic condition, defined as the leading cause of mental retardation, is not an easy pill to swallow.

 

If he did have Fragile X, there is the possibility that the extended family didn’t know. I know of far too many individuals who don’t share the diagnosis, don’t seek out the diagnosis or hide the fact that it exists.  

 

Can you imagine losing your daughter and grandchild in such a tragic way and then being informed that your grandchild had a genetic condition that causes retardation?

 

Maybe the boy didn’t have Fragile X at all, or maybe the family was in denial. Years ago, when approached about being a spokesperson, a public face for Fragile X, Chris Benoit declined.  

 

When my son, Austin, who has Fragile X and Autism, was younger, the difference between Austin and his peers wasn’t that obvious. As he aged, and his peers continued to develop and he didn’t, the difference became very obvious.   

 

Back then I clung to the term “developmentally delayed”, there was hope that he would catch up. Now that he’s fifteen, I realize that no matter how hard he works he’ll always be delayed, he will never catch up, even if new treatments are discovered and become available.

 

I was saddened by the tragedy but also saddened that the event overshadowed news related to Fragile X research.

 

On the same day the Benoit tragedy made the news an important discovery was announced. When a specific enzyme (known as PAK) was inhibited in mice with Fragile X their symptoms were reversed.

 

Within the press release, researchers noted that there is a strong possibility that a fix for Fragile X will be available within five years and this treatment may help children with Autism as well.

 

One could not avoid the story on Benoit yet many of you may have never heard the story on PAK.

 

I followed the Fragile X side of the Benoit story closely, ready to jump into a conversation or contact news agencies, reporters, if I felt Fragile X was misrepresented.

 

Fragile X syndrome, like autism and many other conditions, is a spectrum disorder, it may cause few symptoms or it may result in severe impairment.

 

Some children will grow into adults who will live independently and participate in the community, but far too many will never reach that milestone.

 

Far too many will live out their lives isolated from their community and it’s not because their families didn’t try every intervention technique they could.

 

For me, the impact Fragile X has on my child, with interventions in place, is at times beyond my control. For me, the diagnosis is complicated further when you add a diagnosis of Autism.  

 

I can’t change biology and denial won’t solve my son’s problems or mine. There are times I’d love to bury my head in the sand but I recognize that it won’t make anything better.

 

Denial, as far as I’m concerned, is a disease of its own. Denial was most likely running rampant in the Benoit household.

 

Look around you, I bet you’ll find someone who is in denial about something. You might even find that person by looking in the mirror.  

 

No matter what problems we may have – physical or mental health conditions, addictions or financial troubles – denial is not going to change the outcome for the better.

 

Is it time you pulled your head out of the sand?

Weekend Report

Friday

Matthew had a dinner and awards ceremony for Special Olympics.  My parents, hubby and children all attended.  Well, minus Austin.  He went camping with my sister-in-laws family this weekend.  We all had an awesome time. 

When we were standing in line for food one of the athletes just cracked me up.  He tells me, “See these pants!”

“Yes”

“They are pure silk!”

“Are they?”

“Yep.  They cost $800!”

“Wow!! That is some expensive pants.”

“Yep.  And I got to have a beer on my birthday.”

“Did you?”

“Uh huh.  I was 38 so I figured I deserved it!”

Then he turned around and told the exact same story to about 4 other people.

After everyone ate they handed out awards for the golf area games that were played on Friday.  Matthew got a 4th place ribbon.  He did not want to go up and get it.  He stared at the ground the whole time and I had to walk him up there and back.  Once he got back to the table he handle the ribbon to my dad and went and sat down.  He is just tooo stinking funny. 

On the way home though he looked at me, grabbed my arm and said, “Mom.  I had a good time.”  Rocked my world.  He never does that or tells me that.  So despite the public humiliation he had a blast.  We will definitely keep up the special olympics!!

Saturday

Do you ever have days where you want to just lay around and be a total bum?  Then for some darn reason you keep getting your arse up and doing things.  That was my Saturday.  

It started out great.  Hubby brought me a cup of coffee in bed before he went to work.  I turned on VH1 to watch the top 20 countdown.  The girls woke up and joined me in bed.  Then Matt wandered in and joined us. 

Next thing I know I’m doing laundry!!  Then the dishes.  Then I’m taking a shower!!  Shower.  I was thinking of wearing sweats all day.

Well, luckily I did get up and get my butt moving because Rachel’s friend Zoey came over for the weekend.  She got there about the time I started going through some boxes in my shed.

I called my mom to see if she would accompany me to church on Sunday.  Since it is her church and I’m a big baby to go by myself to a new church I thought I’d give here a ring.  She was tired from a fishing tournament but promised that she would accompany me next weekend.

Sunday

It was another “why can’t I be lazy and not clean” day.  Zoey and Rachel went to church with Lauren.  That was nice because it got them out of my hair for 3 hours…more time to clean!!  My hubby got up early and went back to bed around the time they left.  Austin got home from camping right after the girls left.  He took a bubble bath and laid down with his daddy.  So Matt and I just hung out.  He chatted to me while I cleaned.

Austin’s friend, Charl, called him later in the day.  He wound up staying the night.  So I had 6 kids roaming my halls last night.  It was scary. 

I am so happy to be at work now!!

    
 

Rdean Day

This is an article about a man with fragile X syndrome.  A lot of adults with fragile X are still undiagnosed because fragile X was realized, and tests perfected, after most were already grown.  So it is rare to get a portrait of a fxs man. 

I have a cousin who is in his 40′s with fragile X.  For years we all thought his mental disability came from his mother having Rh blood.  After Matthew was found to have fxs we noticed a lot of similarities in the two.  My aunt decided to have her son tested and it had been fragile x all along!  If it wasn’t for my son she still wouldn’t know.

Anyhow, here is the story:

* * *

For a good cause

By Trena Tegan
For the Times-News

BURLEY, IDAHO - It is often said that “attitude is everything.” But can attitude bring about miracles?

For Rdean Day of Burley, every day is a miracle. Rdean was diagnosed at an early age with a mental disability, which later was determined to be due to a genetic condition called Fragile X Syndrome.

According to the National Fragile X Foundation, the disorder is the most common inherited cause of mental impairment occurring in about 1 in 3,600 males and 1 in 4,000 to 6,000 females. For Donald and Ella Day, the odds were slightly higher. Of their four sons, only one was not affected by the disorder.

“It’s been hard at times,” said Donald Day. “But I wouldn’t trade this life or those boys for anything in the world.”

The family lived in Burley until 1976 when it became apparent they would need help caring for the special needs of the three boys.

They moved to Utah and placed the boys in a care facility, visiting several times a week and taking the boys for outings.

When Rdean was 16, his family took him out of the center. He had learned additional skills at the center and, because his disability was less severe than his brothers, he was able to return home.

Although Rdean’s mental capabilities were stronger than his brothers, his physical body was not. He had been born with gastroesophageal reflux disease, or GERD, that had worn away his esophagus. The stomach acid wore away his teeth, and aspiration of stomach acid also contributed to numerous bouts of pneumonia.

In 1992 he developed hemolytic anemia, a condition of not having enough red blood cells. He had double pneumonia in both lungs and had to have his spleen removed. Doctors held no hope that he would recover and told his parents he would most likely die by Feb. 5, his birthday.

In Rdean’s child-like mind, he didn’t comprehend the extent of his illness. He smiled and laughed with his family, even in his weakened state – and he slowly began to recover.

“He didn’t know he was supposed to die, so (he) smiled through it and he got better,” his aunt, Debbie Day, said. “They say that attitude is key in recovery, and Rdean is living proof.”

He proved it repeatedly, too, recovering not only from the numerous bouts of pneumonia, but from cancer. In 2004 he was diagnosed with stage 4 non-Hodgkin’s lymphoma. He suffered a heart attack linked to the treatments and developed cardiomyopathy. Doctors again gave the family their grim prognosis: he wouldn’t last more than three months, they had said. It now has been three years.

Medical experts offer no explanation as to how Rdean has made such a miraculous recovery – and has recovered so many times. His family, however, has an explanation.

“He is so joyous and so full of love,” Debbie Day said. “He’s just a trooper. We could all learn a lesson from Rdean to pick yourself up and be thankful for the day.”

Rdean’s biggest trial now is his lack of teeth. Because of GERD, he is left with only a few teeth on the bottom and is unable to chew food. His family purchased dentures for him, but he refused to use them. He had an experimental roundhouse bridge put in, but it is wearing out and starting to cause him pain. Although he has Medicaid, it will not cover the cost of teeth implants, which seem to be the only alternative for Rdean.

Since he has been unable to eat regular food, Rdean, 39, and at 5 foot 8 inches tall weighs only 110 pounds. He typically turns away from most mashed foods, not accepting them as “real food.” He has been fitted with a feeding tube, but needs to swallow to keep his esophagus functioning.

“He wants to eat so badly he hides food in his pockets,” Debbie Day said. “He tries to save it, thinking he’ll be able to eat it later, but with no teethâ€-”

Rdean has been staying with Debbie Day in Burley, but his parents visit him frequently. He is an important part of their lives, just as they are an important part of his. He also is the grandson of Donald Sr., who passed away earlier this year, and Suzy Day, and the late Glen and Viola Fox of Burley.

“He loves his family,” his father said. “It’s extraordinary how he loves his family. And he loves people. He will give anyone a hug. He has such a strong will to live. He is Dad’s hero.”

Want to help? An account has been set up to help raise funds for Rdean Day of Burley for teeth implants. Donations can be made in his name at any First Federal Bank branch. “After all he has overcome, he deserves to have some teeth,” said his aunt Debbie Day.