Sunday, September 25, 2011

October is almost here....the 31 for 21 Blog Challenge!

October is National Down Syndrome Awareness Month and it's right around the corner! And with that comes the 5th annual 31 for 21 blog challenge hosted by Unringing The Bell. The goal is to post a blog a day for the whole month of October to increase awareness about Down Syndrome.

The posts don't have to be related to DS, but of course that's a plus :). So, I've been planning posts that I can do in October. Hopefully we can keep it informative and interesting! Posts with recipes, pictures, guest bloggers and lots more :).

Unringing The Bell will put a more detailed post up with the linky to put your blog on and also the grab-button to put on your blog to show you are participating in it.

I am looking for a few folks who would be willing to write a guest post for our blog. It can be any number of topics on DS....if you have an idea, shoot me an email (qf {at} gotdownsyndrome {dot} net) or leave a comment here and I will let you know if I think that will be a good topic and we can go from there.

If you're on twitter, you can use the hashtag #31for21! Hopefully you'll see a lot of posts under that hashtag!

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Tuesday, September 20, 2011

Girl with DS Crowned Homecoming Queen

LIBERTY COUNTY, Texas—Becoming homecoming queen is a dream for many high school girls. But at Tarkington High School in Liberty County, some girls in the running worked to make sure one particular student was crowned.

A total of four students were vying to become the school’s homecoming queen, but they told their supporters to vote for Sydney Bloom. The 18-year-old student has Down syndrome.

It was an act of kindness and beauty, according to the school principal.

“The kids have grown up together, lived in the community together and this is a natural outpouring of their love and their sentiment for a fellow student”, said Jim Hair.

In the hours leading up to the school’s homecoming game on Friday, all eyes were on Bloom. She was named queen later in the night.

Meanwhile, Bloom’s mother said their family was overwhelmed when hearing about the news. Her mother could barely hold back tears of joy as she talked about her young daughter who’s conquered enormous obstacles to make it to where she is.

“It’s the time of her life, she gets to be the princess, so it’s the time of her life,” said Karen Blum. “All of these students, all these four girls, they deserve to be queen. They are the most regal queens of all.”

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Sunday, September 18, 2011

Gymnast with Down Syndrome

Chelsea Werner is far more than just a gymnast with Down syndrome. The 19-year-old Danville resident is the kind of athlete who inspires others to greatness and challenges the perceptions of possibility.

"If more parents could see what Chelsea could do, I think they'd realize their kids could do so much more than anyone gives them credit for," said Werner's mom, Lisa Werner.

Chelsea Werner wasn't supposed to develop the necessary physical attributes. She wasn't supposed to get past the most rudimentary level of artistic gymnastics. She wasn't supposed to show the persistence needed to stick with such a rigorous sport.

Now Werner has one national championship to her credit and is in England this weekend trying to add an international title. Victory or not, a winning message will be on display for those paying attention.

"I feel like a star," Werner said.

Now more than a decade into her pursuit, Werner isn't just dabbling in gymnastics as a recreational outlet. She is a real athlete with real muscle tone -- and a real competitive drive. (The YouTube footage doesn't lie.) Though it has taken her longer, Werner has nonetheless climbed to a stage that most gymnasts never reach.

"A lot of people know Chelsea's been doing gymnastics for 10 years or so," Lisa Werner said. "But they're always surprised when they see videos of what she's capable of doing because I guess it's pretty rare."

Chelsea's coach, Dawn Pombo, could
see the potential early on. But even she is surprised by the way Werner has rewritten the book on what's conceivable for Down syndrome children in sports. She is doing routines that other kids with Down syndrome simply don't attempt.

"She has exceeded my expectations 10 times over," Pombo said. "I don't think of her as special. I know she is, but I don't treat it that way. I just believe she can do it."

Werner is an accomplished gymnast who has worked her way up through the ranks at a mainstream gymnastics facility called Gymfinity in Livermore. She does it all: vault, balance beam, even a floor exercise replete with back flips.

Her achievements are all the more remarkable in that Special Olympics of Northern California dropped its gymnastics program five years ago. Since Werner receives no financial support from Special Olympics, her father, Ray Werner, established a nonprofit organization -- Chelsea's Quest To Be The Best -- to help defray her travel and training expenses.

Nonetheless, as a one-person team competing in her first national Special Olympics event, Werner ventured to Marietta, Ga., in May and bounced away with the all-around gymnastics championship. A longtime coach who saw her told the Werners and Pombo that Werner would have blown away the competition at the quadrennial Special Olympics World Games in Athens, Greece, in late June.

To gauge just how talented she might be on a world stage, Werner will participate in the Down syndrome International Gymnastics Championships on Sunday in Leicester, England. As always, she will surely be flashing her infectious smile during routines.

"I call her 'Showtime,' " said Ray Werner. "She just loves performing for people."

Perhaps it was a blessing that Chelsea wasn't coached through a Special Olympics gymnastics program. By enrolling in Gymfinity's open program when she was 8, she was pushed a little harder than she might have been otherwise. It was difficult at first, but Werner was paired with Pombo, a coach who had never before worked with a special-needs child, so she didn't have preconceived notions.

Pombo eventually found a high degree of persistence and passion inside Werner, latched onto it and extracted something beautiful and uplifting.

"You can ask any coach in this gym, I was afraid at first," Pombo said. "I couldn't understand her. I didn't know how much she understood me. And after working on something, she'd want to go sit down, or she'd complain that her stomach hurt and go hide in the bathroom."

Once Pombo could hold her attention, Werner quickly advanced beyond the most basic levels and was doing intermediate work after the first year. She reached the highest level Special Olympics recognizes in her midteens and has been doing advanced skills the past few years.

She may soon start pushing even further through a program called Excel, which is open to older female gymnasts who don't want to put in 50 hours a week but still desire to keep their skills sharp.

Werner practices for three hours, four times a week and often doesn't want to leave. While her verbal skills are still limited, she has no problems communicating with Pombo as the routines become more difficult to teach. Even her parents are amazed that she just keeps advancing.

Lisa said her daughter has to put in as much as 40 times the work most gymnasts must do to master a maneuver, but her work ethic is relentless.

"I told her mom she could probably do this until she's 30 if she wants it," Pombo said. "She probably will, because it's so good for her. And I don't see many kids who want it as badly as she does."

The Werners believe Pombo's tough-love approach with their daughter is a big key to that.

"I love that she treats Chelsea like the rest of the kids," Ray said. "She gets yelled at if she needs to be. Every now and then I'll see a new parent's face when Dawn yells across the gym, 'Chelsea, get your butt over here!' The parent will look at me with an expression that says, 'Oh my god, she's picking on a poor little Down syndrome kid' and I just start laughing. Chelsea doesn't take it personally at all."

The Werners also have done as much as they can to give Chelsea a normal, happy and active life. She attended San Ramon Valley High in Danville and was on the cheerleading squad. She remains at the school in an extended learning program. She serves as an honorary member of the Cal women's gymnastics team and performs exhibitions at Haas Pavilion and elsewhere.

Werner also has traveled extensively, including an unplanned excursion last year to Buenos Aires. A Special Olympics filmmaker, Ignacio Villanueva, saw footage of her gymnastics skill and paid for her, her mother and Pombo to fly to Argentina to take part in an international Special Olympics commercial.

Werner's best memory of that experience?

"I learned the tango," she said, grinning.

But behind that grin lies a true competitor -- not to mention a true champion for possibility.

"I don't know what drives her," Pombo said. "She's just a go-getter."

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Friday, September 16, 2011

Using Probiotics

International Nutrition sells a good probiotic called Bio-Kult. It is recommended on the GAPS diet by Dr. Natasha Campbell-McBride. I've used it myself a few times. My brother, sister & dad who are on the GAPS diet have not used it, as we feel they get enough probiotic in the homemade kefir & yogurt. And haven't seemed to need anything more. But, I know some friends on the GAPS diet who are using this, because they have more intense bowel issues, which needs more probiotics.

You will of course read differing opinions on almost everything it seems. My Aunt ran across a site that highly discouraged the use of Bio-Kult because of the bifidobacterium in it. The site which discouraged the use of Bio-Kult was a site that strongly supported the SCD (Specific Carbohydrate Diet). That diet is good for some, but it does not do the gut healing which GAPS does. So, I did some research and could not find any other source which said the bifido was bad to have in a probiotic. In fact, I found just the opposite on many sites. I found that it is actually one of the best probiotics.

I went ahead and asked International Nutrition about it, since I figured they would have an answer. They got back with me last week with the answer below (sharing with permission).

There is absolutely no evidence at all the Bifidobacterium are harmful in the SCD, to people with inflammatory bowel disease, to people in general healthy or not. This is simply a myth. Bifidobacterium are used with benefit in people with inflammatory bowel disease, irritable bowel syndrome, and other disorders. I do not know of a case of Bifidobacterium overgrowth. Most people following the SCD just ignore this recommendation from Elaine Gottachall. Numerous children with autism follow the SCD and most of them are on probiotics with Bifidobacterium in them.
Quote from: Dr. Stephen Olmstead, Chief Scientific Officer at Prothera/Klaire Labs (he was asked because they work closely with people on the SCD diet).

I thought I would share with others, in case there is more confusion.

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Wednesday, September 14, 2011

Spoon Feeding to Discourage Tongue Thrust

A very important aspect for oral motor therapy with babies/young children with Down syndrome is discouraging tongue thrust and encouraging lip closure.  A very simple way to get this "oral motor therapy" in is in the way of spoon feeding. There's a certain technique which can be done when spoon feeding to facilitate this.

I've posted about this on the blog years ago, back when we were doing this with O (when he was a baby), and it's also on our site, but I thought I'd post it up here again.

This can be used on children who are very young - from the very first time they start eating solids!

Hold the spoon sideways, so that the side of the spoon is touching each side of the mouth, let the child get the food off it that way.

Immediately turn the spoon the other way (still sideways, but facing a different direction) and feed the child.

Then turn the spoon again the opposite direction and let them get the last bit of the food off.

It is best for this to be done 3 times in a row, like the above picture shows, because then it helps keep that tongue in. If you just do the sideways spoon feeding once, then the child can put his tongue out to help swallow the food or lick the food off of his lips. After you do it 3 times the child will hardly stick his tongue out at all after that last bite, since he has already been swallowing the food.

Try it on yourself - Feed yourself with the spoon like you normally would - your tongue protrudes forward this way. Feed yourself with the spoon sideways, your tongue is pushed back. It works so well.

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Tuesday, September 13, 2011

Roche Clinical Trial in Down Syndrome Begins

Roche starts early stage clinical trial in Down syndrome
Basel, 09 September 2011

First potential therapy designed to improve cognition and adaptive behavior in individuals with Down syndrome

Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced the initiation of its first Phase 1 clinical trial to investigate the safety and tolerability of a molecule designed to address the cognitive and behavioral deficits associated with Down syndrome.

“There is currently a large unmet medical need for the treatment of cognitive impairments in individuals suffering from Down syndrome,” comments Luca Santarelli, Global Head of Roche Neurosciences Disease Translational Area. “Our strategy at Roche neurosciences is to specifically address these serious conditions that have no approved, effective or safe treatment. This is why we have a strong commitment to neurodevelopmental disorders, including genetic disorders like Down syndrome or Fragile X, as well as autism spectrum disorders.”

Enhancing brain functions such as cognition and language in individuals with Down syndrome holds the promise to help these individuals conduct a more independent life. This may result from the improved ability to carry out every day’s practical tasks such as finding an apartment, maintaining a job, or having a more fulfilling social life. These improvements can have a significant impact on functioning and quality of life of Down syndrome individuals as well as help reduce the burden for families, caregivers and the society.

“This study will target only adults between 18 and 30 years old, but we believe that an earlier intervention in Down syndrome has the potential for a greater medical impact,” says Paulo Fontoura, Head of Translational Medicine in the Roche Neurosciences Disease Translational Area. “While we are still at the early stage, but we are confident that our drug’s mechanism of action can potentially open the door to further promising investigations in upcoming years.

”Based on animal models, an imbalance between excitatory and inhibitory neurotransmission has been proposed among the underlying causes of altered brain function in individuals with Down syndrome. Roche’s investigational drug is being assessed for its ability to address this imbalance by targeting the GABAergic* system.

GABA: gamma-amino butyric acid

About the study
This placebo-controlled study will assess the safety and tolerability of the investigational drug in individuals with Down syndrome. It will recruit up to 33 individuals in one or two countries. The investigational drug has already been tested in healthy volunteers and demonstrated a good safety and tolerability profile, without significant adverse events. For more information on the study, access the Roche ClinicalTrials Protocol Registry and Results Database:

About Roche
Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche’s personalised healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2010, Roche had over 80,000 employees worldwide and invested over 9 billion Swiss francs in R&D. The Group posted sales of 47.5 billion Swiss francs.

Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information:

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Sunday, September 11, 2011

Speech Progress Yet Again!

Speech progress seems slow sometimes, but it does come, thankfully. It takes a lot of work. Continual work. Repetitious work. Muscle Work. Sound work. Reading work.

When I blogged about how O had finally learned to say "Mom" without the "B" sound, it was such a huge thing! It's been awhile since then though. O has continued to make progress in his speech. In fact, in the last couple months he has made significant gains in his speech. We aren't having to repeat what he says to him to make sure we're understanding him as often (that's huge!), which means he is able to communicate more effectively & clearly. But, he still lacks clarity of speech.

That tongue of his surely gets in the way a lot it seems! He puts a lot of "B" and "D" sounds at the beginning of words. But, he is getting better.

I've been focusing more on making him use the straws from TalkTools consistently. That has made a HUGE difference. As well as using various other horns which help build the muscles for tongue retraction. And we, of course, continue to work on his jaw by using the bite blocks. Both single bite blocks and double bite blocks.

This week we were working on reading (yes, his reading is coming along really well too, praise the Lord). We got to the flash cards "Me" and "My." O has never been able to say either of those words correctly. It's always been "Dee."

Well, the other day, I did what I always do and broke the word down .... "mmmmmm-eeeeeeee." He can say it broken down, but putting it together and saying it normally doesn't work.....that is, most of the time. But, to my surprise and excitement, he said "Me"....with the "M" sound! And then he went on to saying "My" with the "M" sound.

That's music to my ears :)! Praise the Lord.

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Friday, September 9, 2011

Eagle Scout with Down Syndrome

A family on the Einstein-Syndrome list has a son with Down syndrome who has been working on an Eagle Scout project. He recently completed his project, so some newspapers shared his story. I thought I would share it as well.

Receiving the distinction of Eagle Scout requires strong motivation, willingness to learn, careful planning, with a strong commitment to service. Isaac Wieser possesses all of these admirable characteristics, plus unmatched, unbridled enthusiasm. Born with Down syndrome, he doesn’t allow challenges to intimidate him one bit. Last week, after a full year of planning, organizing, supervising, and development, he delivered 10 white cedar bluebird houses to Sotterley Plantation, as part of the wildlife encouragement program.

“I’m so excited!” Isaac exclaimed, upon entering the Sotterley office with his mother and brother … and he has every right to be. After identifying Sotterley’s need for this valuable project at the 2010 Garden Fair, he set to work. With assistance from his family and fellow boy scouts in Troop 420 of Leonardtown, what began as an idea has become a reality.

After learning that bluebirds prefer white cedar, Isaac’s grandfather generously donated the wood for the project. Isaac’s next phase of learning included how to use a drill press and other tools correctly and safely, under the instruction of his father. Once the prep-work was complete, he supervised the construction of the high-quality bluebird houses. Grouping the scouts into teams, each responsible for a specific task on an assembly line, he oversaw each phase of development for quality assurance.

“We are so incredibly honored that Isaac chose Sotterley for this most amazing gift. This will help us to increase the bluebird population at Sotterley,” stated Nancy Easterling, Executive Director. “Most importantly, we have made a great friend in Isaac.”

Much thanks to Isaac Wieser, the Wieser family, and Boy Scout Troop 420 of Leonardtown, Maryland. We are grateful … and excited!

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Wednesday, September 7, 2011

Life On The Ranch: A Labor Day BBQ

Well, we had a good Labor Day weekend. We had a nice BBQ at Grandma's house, played volleyball and had a nice, relaxing day. And it was such a beautiful cool, praise the Lord.

O decided to play peek-a-boo when he saw we had the camera out!

Grandma's house has all kinds of fun balls to play with :).

Some meat was BBQ'd and some was baked to make sure it was GAPS friendly.

We played several rounds of volleyball!

How was your Labor Day weekend?

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Tuesday, September 6, 2011

Update on Duke Study

Well, I found out that the Duke University study actually is completed now. So, I searched for the abstract and will paste it here:

The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.
Yanovitch T, Wallace DK, Freedman SF, Enyedi LB, Kishnani P, Worley G, Crissman B, Burner E, Young TL.
Source: Duke University Eye Center, Durham, North Carolina 27710, USA.

BACKGROUND: Children with Down syndrome (DS) have an increased prevalence of ocular disorders, including amblyopia, strabismus, and refractive error. Health maintenance guidelines from the Down Syndrome Medical Interest Group recommend ophthalmologic examinations every 1 to 2 years for these children. Photoscreening may be a cost-effective option for subsequent screening evaluations after an initial complete examination, but no study has evaluated the accuracy of photoscreening in children with DS. The purpose of this study is to determine the sensitivity, specificity, and positive and negative predictive values of photoscreening in detecting treatable ocular conditions in children with DS.

METHODS: Photoscreening and complete ophthalmologic evaluations were performed in 50 consecutive 3- to 10-year-old children with DS. Sensitivity, specificity, and positive and negative predictive values were calculated with the use of ophthalmologic examination findings as the reference standard.

RESULTS: Most children were able to complete photoscreening (94% with Medical Technology and Innovations [MTI] and 90% with Visiscreen OSS-C [VR]). Many children had an identified diagnosis on ophthalmologic examination (n = 46, 92%). Of these, approximately one-half (n = 27, 54%) had one or more condition(s) requiring treatment. Both the MTI and VR photoscreening devices had a sensitivity of 93% (95% confidence interval 0.76-0.99) for detecting treatable ocular conditions. The specificities for the MTI and VR photoscreening were 0.35 (0.18-0.57) and 0.55 (0.34-0.74), respectively.

CONCLUSIONS: Photoscreening is sensitive but less specific at detecting treatable ocular conditions in children with DS. In specific instances, the use of photoscreening in the DS population has the potential to save time and expense related to routine eye examinations, particularly in children with a normal baseline comprehensive examination.

Copyright © 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

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Duke University Looking for Study Participants

This came across the Einstein-Syndrome listserv and I thought I would pass the word on.

Down Syndrome

Photoscreening/Amblyopia in Down syndrome
Purpose of the study
The study is to see if photoscreening, which is faster and does not require dilating the eye, is sensitive and specific in identifying eye problems in children with Down syndrome
What is involved in the study?
This study involves taking a picture of your child's eyes, and if your child has not seen an eye doctor in the past 12 months, a complete eye examination. 
Who is eligible?
Children ages 3 to 10 with Down syndrome.
Contact information for study coordinator.
Blythe Crissman, MS, CGC
Erica Burner, MS, CGC

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Sunday, September 4, 2011

Sister With Down Syndrome Inspires Family

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Friday, September 2, 2011

Experts to Discuss Treatments for Down Syndrome

This came across a Down syndrome listserv which I'm on and I thought I'd share this. 

World Experts Meet in Cambridge to Discuss Treatments for Down Syndrome

The treatability of Down Syndrome is gaining evidence and support, but remains the "holy grail" for parents and doctors. A rare gathering of expert scientists will plan the next stage in human treatments for Down syndrome. The wider context of the impact on people with Alzheimer's with be discussed.

London, United Kingdom, September 01, 2011 --( Rarely are such people all in the same room together, but September 17th sees the meeting of truly great minds in Cambridge at the Welcome Genome Campus. The subject they'll be discussing? Down syndrome treatments.

There are at least 30,000 children and adults with Down Syndrome (DS) in the UK and about 700 new babies every year. For years it has been thought that nothing can been done to help this group of people who face difficulties with learning and memory as well as increased risk of physical problems like congenital heart disease as a result of inheriting an extra copy of chromosome 21.

What has felt impossible by most has become a reality for scientists at the cutting edge of understanding genes and their interplay on the developing brain. "Let's define the genes that are responsible...and let's treat those genes," Dr William Mobley, Professor and Chair of the Department of Neurology at Stanford University, has recently said. He adds that hopefully "...there are two or three different targets that are very treatable."

The wider hope is that it will help everyone who develops Alzheimer's Disease, as all people with DS show brain changes of Alzheimer's.

The conference will be opened by Madam Jerome Lejeune, wife of the late Prof. Jerome Lejeune who dedicated his life to the discovery of a cure for Down Syndrome. His work continues at the Foundation Jerome Lejeune in Paris, with the support Dr. Mobley will be chairing the day and the aim of the gathering will be creation of international research alliances to speed this life changing work.

The conference has been organised by a UK charity, the Downs Syndrome Research Foundation UK, founded to get DS up the agenda for the researchers and the Government. Dr Elliott, the chair of the DSRF, concludes "We are at a crucial moment in the field and possibilities for the future are hopeful. Join us and see why."

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