Sarah Ely: Young Adult With Down Syndrome

 This article came through one of the DS lists I'm on and I thought I'd share it.

The amazing and inspiring Sarah Ely on quilting, singing and her website

Sarah Ely is a star. For years, she and her mother, Joyce, have been writing a blog about Sarah's journey into adulthood with Down syndrome. Last year, on Sarah's 21st birthday, they opened JEllen's House of Fabric in Lyndhurst, a sunshine-bathed quilting boutique. The shop not only offers contemporary fabrics and a bright space for creative work, it also employs young adults with developmental disabilities, including, of course, Sarah. The 21-year-old helps pick out fabrics, affixes labels to bags and cards, stocks the register with money and helps rotate the inventory to keep it from fading in the sunlight. She's also the store's "sew-cial" director, hosting activities in the store lounge. With her website getting more than 130,000 hits since October, Sarah caught the attention of Better Homes and Gardens' American Patchwork and Quilting magazine, which featured her in its April issue. She has received cards, letters and photos from people and families she has inspired around the world. In between autographs -- she's being asked for them now -- Sarah answered some questions from PDQ's John Campanelli.

What kind of person are you?

Sarah: Happy.

Sarah's mom, Joyce: And sweet.

All of the time?

(Sarah nods.)

Mom: Most of the time.

I saw on your blog that your mom caught you hiding cookies in the kitchen in the middle of the night. Why did you do that?

Sarah: "Don't touch, Sarah."

Mom: She was afraid her brothers were going to eat them -- chocolate chip cookies are her favorite -- so she hid some and wrote a label on them, "Don't touch, Sarah."

What makes you happy?

Sarah: Music therapy.

What kind of music do you like?

Sarah: Keyboards.

What else do you do?

Sarah: Drums and sing.

Do you have a favorite song?

Sarah: Lady Gaga.

Mom: Sarah sang "Bad Romance" at music therapy [there's a video of the performance on her blog]. She had years and years of speech therapy, which set the foundation, but we had very little speech. Music therapy is what really kicked that speech into gear because she thinks she's singing. She is singing.

What's your favorite thing about fabric and sewing?

Sarah: Pillowcases.

(Sarah's first sewing project was making two Disney princess pillowcases for her friend Kristen in Utah, who had leukemia. Kristen slept on the pillowcases until she died last year. Kristen's mom now sleeps on them. The pillowcases were part of the One Million Pillowcase Challenge, a nationwide effort to give away handmade pillowcases to foster children, cancer patients and victims of domestic violence.)

How many pillowcases has the store made?

Mom: One hundred and two. Our goal was 50.

What's the hardest part of making a pillowcase?

Sarah: Cutting.

Most important thing to remember when sewing?

Sarah: Be careful.

Have you cut yourself or pricked yourself with a pin?

(Sarah shakes her head no.)

Mom: We've been pretty lucky.

You're 21. What's the best thing about being a grown-up?

Sarah: I can stay home alone. . . . My own cell phone.

What's your favorite dinner?

Sarah: Ravioli. My dad cooks. . . . With cheese and sauce.

What about for breakfast? Do you eat chocolate chip cookies?

(Sarah smiles and nods.)

Mom: That's another nice thing about being a grown-up.

Joyce, why did you start the blog?

Mom: For years, people told me to write a book, but a book is so finite. The minute you send it off to the publisher, it's out of date because life keeps happening. There were all these blogs about little babies with Down syndrome. But I couldn't find any blogs about a teenager with Down syndrome. We never knew it would become so well-known and such an inspiration for these families.

What's your message to other parents with Down syndrome kids?

Mom: When you have a child, a lot of people don't know their child is going to have Down syndrome until the doctor holds the baby. They give you such a doom-and-gloom kind of forecast. What this blog is doing is showing these young families that it doesn't have to be doom and gloom. Life is still grand and glorious. It's just a different life.

JEllen's House of Fabric is located at 5259 Mayfield Road, Lyndhurst. Go to jellenshouseoffabric.com or call 440-684-9830. Go to sarahely8989.blogspot.com for Sarah Ely's blog.

Protein dose reverses learning problems in Down's mice

This is a very interesting study! We'll see where it will go from here, in terms of turning this into something that can be used with people.

Protein dose reverses learning problems in Down's mice

Learning and memory problems have been reversed in mice with a syndrome that mimics Down's.

Catherine Spong and colleagues at the National Institutes of Health in Bethesda, Maryland, found they could prevent developmental problems in mice engineered to have Down's syndrome by injecting their mothers with two proteins, called NAP and SAL, while they were still in the womb. This treatment would carry many risks for humans, so the team wondered whether the proteins might also help adult mice.

Spong's team engineered mice to have an extra chromosome 16, which causes similar problems to those caused by an extra chromosome 21 in humans, the trigger for Down's (see picture). The mice then had to find a submerged platform in a water maze using visual cues. Down's mice usually take twice as long to find the platform as healthy mice. However, after four days of oral treatment with NAP and SAL, the Down's mice learned to navigate the maze just as easily as normal mice.

NAP and SAL are fragments of proteins normally produced by glial cells - brain cells that provide nourishment to neurons. We know that glial cells malfunction in people with Down's. Mice treated with the proteins had markers of healthy glial function that were missing in the untreated Down's mice.

In a second experiment, the team investigated whether the treatment caused changes in chemicals known to be involved in "long-term potentiation" (LTP) - a type of brain activity key to memory formation. People and mice with Down's have decreased levels of many chemicals involved in this process. However, treated mice appeared to have increased levels of a receptor called NR2B that is responsible for initiating LTP (Obstetrics & Gynecology, DOI: 10.1097/AOG.0b013e3182051ca5). Craig Heller, co-director of Stanford University's Down Syndrome Research Center in California, says this study makes one thing clear: "Learning disabilities and mental retardations that were considered permanent are treatable."

Show of Sportsmanship

Two highschool soccer teams worked together to let a player with Down syndrome score a goal. It was the last game of the year. Ross, who has Down syndrome, had played soccer for years, but never scored a goal. He normally was brought into the game near the end of each game, but this time something special happened. The opposing team's coach asked Ross' coach to let their teams work together so Ross could score a goal. He did & both sides were thrilled.

You can see a full news story on it here.

Vitamin D Helps Cognitive Function

It is recommended to give extra Vitamin D, even if your child is on the Nutrivene protocol. Here's more good reason to give extra D, since it helps with so many things in the brain. One area it helps with is improving the hippocampus, which we know has some challenges in Down syndrome. So, here is the article.

O takes 2,000mgs a day of Vitamin D from Carlson's labs.

New studies show low vitamin D levels may impair cognitive function

The push to prevent skin cancer may have come with unintended consequences—impaired brain function because of a deficiency of vitamin D. The “sunshine vitamin” is synthesized in our skin when we are exposed to direct sunlight, but sunblock impedes this process. And although vitamin D is well known for promoting bone health and regulating vital calcium levels—hence its addition to milk—it does more than that. Scientists have now linked this fat-soluble nutrient’s hormonelike activity to a number of functions throughout the body, including the workings of the brain.

“We know there are receptors for vitamin D throughout the central nervous system and in the hippocampus,” said Robert J. Przybelski, a doctor and research scientist at the University of Wisconsin School of Medicine and Public Health. “We also know vitamin D activates and deactivates enzymes in the brain and the cerebrospinal fluid that are involved in neurotransmitter synthesis and nerve growth.” In addition, animal and laboratory studies suggest vitamin D protects neurons and reduces inflammation.

Two new European studies looking at vitamin D and cognitive function have taken us one step further. The first study, led by neuroscientist David Llewellyn of the University of Cambridge, assessed vitamin D levels in more than 1,700 men and women from England, aged 65 or older. Subjects were divided into four groups based on vitamin D blood levels: severely deficient, deficient, insufficient (borderline) and optimum, then tested for cognitive function.

The scientists found that the lower the subjects’ vitamin D levels, the more negatively impacted was their perform­ance on a battery of mental tests. Compared with people with optimum vitamin D levels, those in the lowest quartile were more than twice as likely to be cognitively impaired.

A second study, led by scientists at the University of Manchester in England and published online this past May, looked at vitamin D levels and cognitive performance in more than 3,100 men aged 40 to 79 in eight different countries across Europe. The data show that those people with lower vitamin D levels exhibited slower information-processing speed. This correlation was particularly strong among men older than 60 years.

“The fact that this relationship was established in a large-scale, clinical human study is very important,” Przybelski says, “but there’s still a lot we don’t know.”

Although we now know that low levels of vitamin D are associated with cognitive impairment, we do not know if high or optimum levels will lessen cognitive losses. It is also unclear if giving vitamin D to those who lack it will help them regain some of these high-level functions.

Because cognitive impairment is often a precursor for dementia and Alzheimer’s disease, vitamin D is a hot topic among Alzheimer’s scientists, who are racing to answer these questions. Przybelski, for example, is planning a study of vitamin D supplements in healthy, normal elderly adults living in an assisted-living community to see if it will affect their incidence of Alzheimer’s in the long term.

So how much is enough vitamin D? Experts say 1,000 to 2,000 IU daily—about the amount your body will synthesize from 15 to 30 minutes of sun exposure two to three times a week—is the ideal range for almost all healthy adults. Keep in mind, however, that skin color, where you live and how much skin you have exposed all affect how much vitamin D you can produce.

If Supplements Don't Increase IQ...

There was a question posed last week by a mother of a toddler with DS on one of the email groups I am on. The topic of low IQ's came up and she asked why would someone (including herself) spend all this money & time on supplements and early intervention if it doesn't raise the IQ levels.

The question intrigued me, because I have never thought of it. And I thought I would bring the topic up on the blog here.

We give all the supplements to O & do so much with him as far as therapy goes, not to necessarily achieve a high IQ. But, to give him the best possible chance at being healthy & thriving. 

That is proven in the lives of those who have children with DS and also in research studies.

Early intervention helps children with Down syndrome achieve key milestones in an earlier time frame. It helps stimulate their brain, helps strengthen their muscles & improves their tone.

Targeted Nutritional Intervention helps support proper brain function & overall health. It helps reduce certain metabolic levels which are in excess due to the third 21st chromosome. It helps increase levels of certain nutrients which are diminished because of the extra chromosome. It helps their immune system. It helps their tone. And I could go on and on with what all it can help!

With all that, never once has an IQ number come to my mind. The reason why we do what we do with O in regards to TNI & early intervention has nothing to do with increasing his IQ numbers. Honestly, I could care less what his IQ numbers are. I know that he is healthy, thriving and smart. That’s what matters. Not what any test might show.

Academic tests at his speech therapist have tested him a good 6 months to 1 year above his age. And that’s all by God’s kindness & mercy. Even if he were to test BEHIND (which he does in some areas), it wouldn’t be a big deal. He’s a blessing no matter what his IQ is.

The goal with giving supplements is what it does in the long run. It may help decrease O's chance of getting Alzheimer's or any of the other diseases that can come about because of the extra chromosome. As I said in this post, we have to look at it as a marathon, not a sprint.

Not in the long run of achieving the highest IQ on some academic test. No one needs a high IQ level from some test to say whether they are smart, or whether they are capable of understanding & doing well.

My little brother does understand. He is a smart little boy. He is thriving. He has excelled in his motor skills. And he's never had an IQ test done.

Oral Motor Development Started Young!

Andi Durkin, who is a mother on the Einstein-Syndrome list wrote to the list a few days ago with an amazing progress report on her little boy who has DS. He's just under 1 year old and is doing amazing in the oral motor area & his speech. Andi has worked hard & researched a lot on what she can do for him.

Sara Rosenfeld-Johnson (from TalkTools) says in one of her DVD's that if a child is doing OM therapy and the TalkTools program from a very young age (just a few months old), "normal" speech can be achieved. I think Andi's son is a great example of that with the progress that he has made so far. I'll just paste what Andi wrote below, since she outlines what they have done and how it has helped.

My husband, Kenny & I took Jett (11 months) to his first speech evaluation with Renee Hill of Talk Tools on Wednesday (through a scholarship from http://www.dsfflorida.org/). She was amazed! She said that she had to evaluate him using the typical scale, not the one for children with DS. She said he was on par and above the typical child. He has no tongue protrusion, great lip closure, strong jaw muscles, etc. He is on his way to clear speech! She said it was the easiest evaluation she'd ever done and had the least amount of suggestions.

A brief history of Jett's language success:

-He's been "babbling paragraphs" for many months. See/hear Jett at 3 months: http://durkinworks.blogspot.com/2010/06/jett-babbling-paragraphs.html.
-Randomly said clear words off and on starting with "Daddy" at six months. (okay, alright, go' boy, oh boy, hey)
-He said his first word of intention at 8 months old: "Water"
-Jett said his first two-word sentence on Sunday: "Poopy good-bye!" (I'll spare you the details!)

This progress didn't happen by accident, of course.

First, breast feeding helped to build his jaw muscles and help with tongue thrust, among many other things. (It was so difficult for the first month or so but he finally got the hang of it!)

Second, we've used James D. MacDonald's (jamesdmacdonald.org) communication methods since he was born.  You can see my stepson, Alex, mirroring Jett when he was 3 months old here: http://durkinworks.blogspot.com/2010/06/jett-milestone-day-talking-jett.html (My husband wrote that he started talking that day--but that wasn't the first day.)

Third, I read the article: The Oral-Motor Myths of Down Syndrome By Sara Rosenfeld-Johnson, M.S.,CCC/SLP (founder of Talk Tools) when Jett was 3 months old and followed all her advice. You can find the article in Qadoshyah Fish's book, Down Syndrome, What You CAN Do.  ( http://stores.lulu.com/gotdownsyndrome )

Fourth, Kay Ness gave an eye-opening/life changing speech to our DS group that guided me in many ways including emphasizing the importance of keeping our children's nasal and ear canals clear in order to develop proper speech. (http://senc.us/Down_Syndrome.html) Which eventually led to cranial sacral work, AIR tea and Dr. Block's methods to open his nasal passages & ear canal.

Fifth, through following Kay's ND program since 8 months, Jett has been developing his oral sensory skills (mesh feeding bag, massages, etc.) and increasing his vocabulary (flash cards, songs, etc.).

Sixth, Qadoshyah's blog entry about how to feed our children correctly helped prevent bad habits and showed how to use feeding as oral motor therapy: http://www.gotdownsyndrome.net/spoonfeeding.html

So, to Camille Gardiner (friend & DSFF), Kay Ness, Sara Rosenfeld-Johnson, Qadoshyah Fish, James D. MacDonald, Dr. Loi (TCM), Dr. Block, Vicki Booher (cranial sacral), Dr. Franz, and Kristin L. Worishcheck, the lactation specialist, who cheered me on, my mother and Kenny, Alex & Kathy Durkin....

  THANK YOU THANK YOU THANK YOU THANK YOU THANK YOU THANK YOU THANK YOU!!!!

You can see more pictures/entries of Jett at http://durkinworks.blogspot.com/search/label/The%20Chronicles%20of%20Jett

I'm thankful the book, blog & website were all able to help Andi & Jett as well :).

New Banner!

The banner at the top of the blog was getting a bit old for me, so I went ahead and updated it with some new pictures.

I also added a button to the recipes section, so that they can be easily found! Hopefully I'll have another Gluten-Free recipe up soon. I took pictures of one recipe a few weeks ago and keep forgetting to put it up :).

The DYRK1A Program

The Lejeune Research Foundation has been studying one of the many overexpressed genes on the 21st chromosome, the DYRK1A gene.  There is no supplement or medication used yet to help counteract the effects of this gene & protein.

But, the active ingredient in Green Tea, EGCG, does help regulate the effects of this gene. And so the Lejeune Research Foundation is going to start a study on this. I'll be very curious to see the results!

Here's a quote from Lejeune Research Foundation's website:

"When it works too hard, the chromosome 21's DYRK1A gene is causing morphological and cognitive impairments on Down Syndrome's Mice models*. (Ts65Dn mice). It is likely that the hyper function of this gene has the same effect on humans affected by Down Syndrome.

The DYRK1A gene encodes for an enzyme (also called DYRK1A): in other words, it is the source of the synthesis (production) of this enzyme. The intention is therefore to curb the over activity of this enzyme by inhibiting it thanks to a chemical molecule.

This principle has already been validated on mice: in 2009, conclusive studies have been conducted on the Ts65Dn mouse: with the contribution of this molecule, their cognitive function improved. This work was led by John Delabar, from the University Paris VII, with the support of the Foundation Lejeune.

We are now entering the next stage with the launch of the first clinical trial of the inhibitor - the active molecule EGCG*, extracted from green tea - on patients affected by Down Syndrome: the test is conducted in Barcelona, Spain, under the direction of Professor Mara Dierssen, still with the support of the Foundation Lejeune."

Life On The Ranch: Spring is Approaching!

Last week we had yet another snow storm which dumped about another 12" of snow on us. But, thankfully this past week has been warm & sunny. The snow is melted and green grass is starting to grow.

Along with the feeling of an approaching spring and warm weather, comes new arrivals. Goats are having babies. Sheep are having babies. And even the bunnies are having babies. Life is busy on the ranch right now!

In the goats, we've had around 14 babies born in the last week! Which means the milk production for our family goes up.

In the sheep, there's been so many babies born, I don't have any idea on the count of those! All I know is the nursery yard by the front of the house is full of ewes with singles, twins or triplets :).

And even with the baby bunnies. A litter of 10 was born a week ago. They are very cute little babies :).

And since we're on the subject of babies, I have to include a couple pictures of the baby llama, Mr. Peppy. He's such a sweet little guy!

Since this is mainly a picture post, I'll also include some sunshine around the farm pictures from yesterday.

Treadmill Training for Early Walking

Dr. Dale Ulrich has studied & been using treadmill training for infants with Down syndrome to help them learn to walk. He's found that it helps in many areas if the child learns to walk sooner (cognitive help being one of them).

We have his info & articles in our book, but I thought I'd share this .pdf with you. Dr. Ulrich & his team at the University of Michigan have built a small treadmill for this, but it costs $1000. So, to make it more affordable for parents, you can use any treadmill, so long as you can reduce the speed to 1/2 mile per hour.

He explains the above as well as a lot more on how to use it here.

Teacher Born with Down Syndrome

This came through one of the DS listservs I'm on and thought I'd share it.

Teacher Born With Down Syndrome Breaks Stereotypes

One local assistant teacher is living proof that with motivation and a positive attitude there is nothing that can't be accomplished.

There's a teacher in Columbia, who brings more to her students than every day lessons, she brings a very important, life long one.

"I always tried hard, and I always did my best," said Bryann Burgess, an assistant teacher with a school called Kindermusik.

From day one, the 22-year-old came into this world with an extra obstacle.

"I was born with down syndrome, on August 20th, 1988," Burgess said.

Something that many would see as a difficulty, she turned into an inspiration.

"I'm studying music and theater. It's my major."

Bryann is a junior at USC's Carolina Life non-degree program.

"I'm now living on campus. For the very first time this year and it's really exciting. It was a big challenge from going from home schooling to a big campus at USC, and to live on campus. It was hard. But we did it!"

She's ultimately wants to be a full time teacher, and is getting hands on experience teaching music along side the director of Kindermusik, Ally Trotter.

"Something about Bryann that I love, is her "authentic". She brings who she is to class."

"I've always wanted to express myself in music," said Bryann, "that's what I've learned in Kindermusik, is just to express myself and enjoy learning."

Bryann brings something invaluable to her students.

"I always tried hard, and I always did my best. No matter what happens, I just keep on going and dust myself off."

Bryann is proof that with hard work, and a positive attitude, you can do anything.

"It's been wonderful. It's been quite a journey and the dream never ends," Bryann said.

6 Years Ago This Month

O & his twin sister, Yo, turn 6 years old this month. It's hard to believe that it's been 6 years since the chaotic, tiring, stressful, happy, exhausting & blessed day that they were born.

Our lives changed that day. For the better.

I remember so vividly the moment my dad came out of the NICU saying "there may be some bad news," and my heart sunk, thinking "what was wrong?". He continued though, "it looks like the little boy may have Down syndrome."  What a sigh of relief! That's not such a bad thing, I thought, even though I knew nothing about the specifics of DS. The next thing I knew, we were out in the L&D waiting room sharing the news of the twins arrival along with any info we knew with the rest of our family & friends.

We were told many negative things in regards to O's diagnosis of Down syndrome. Many things that he would not do.

You know what? They were wrong. Flat-out wrong. (just like so many others have experienced.)

Today we're blessed by him. Blessed by the gift that God gave us in giving us O, with that extra chromosome.

Today O can do the things we were told he wouldn't do. Today he has exceeded the dark expectations they put upon him.

And today, O can...

...walk, run, jump and skip

...help with chores around the farm

...communicate with his family & friends

...play like any other little boy with his siblings, cousins & friends

...understand so, so much

...play jokes on his siblings

...sing and dance

...be potty-trained

...lose his baby teeth

...beg to go outside to have a snow fight when it snows

...and so much more.

God has been extremely kind & merciful to my little brother, in so many ways. He's healthy. His thyroid has been able to be kept under control. He's active. His echocardiogram came back good when he was a baby. He's blessed to be in our family.

So today I say, "I love you buddy." And as O would reply, "Yep!" :). You've enriched our life so much and keep us laughing & smiling.

Goodnight!

Life On The Ranch: Blizzard

Well, I know I've kind of slacked on the blog posts lately. We've had company over for several days & then got hit with a whopper of a winter storm this week! So, for today, I'll leave you with a few pictures of the snow storm.

We got close to 15" of snow with 3-4' snow drifts. And lots of cold temperatures. (The low's just -10 degrees (F) tonight!)

Yesterday during the storm

Today, which is nice & sunny...but certainly not warm!