Wednesday, October 31, 2007

Bit more info. . .

Here's a link that has a bit more info about the research grant at DSRTF ~

Tuesday, October 30, 2007

KKI DS Clinic Research

I was at Kennedy Krieger Institute's DS clinic site and saw this DS research announcment and thought I'd pass it along, incase someone was interested -

DSRTF Grants Research Funds to Dr. Roger Reeves

DSRTF Grants $250,000 to Dr. Roger Reeves at Johns Hopkins School of Medicine

DSRTF announces funding for a major new research program led by Dr. Roger Reeves at Johns Hopkins School of Medicine. Dr. Roger Reeves’ recent research discovered that a certain area of the brain, the cerebellum, is underdeveloped in a Down syndrome mouse model, analogous to observations in individuals with Down syndrome. These studies by Dr. Reeves and his colleagues further led to the identification of a potential drug that essentially normalizes the development of the cerebellum in the mouse model.

This new grant from DSRTF significantly extends Dr. Reeves’ research, and includes addressing two critical next questions:

  1. Does the potential drug also correct a deficit in the development of the nerve cells in the hippocampus, a brain area involved in learning and memory?
  2. Does the potential drug produce positive and measurable effects on learning and memory in a Down syndrome mouse model?

“The DSRTF award allows us to pursue our preliminary observations immediately without the now considerable delay that’s usually associated with obtaining federal funding,” says Dr. Reeves. “With a decrease of nearly 70 percent- from $42 to $13 million- in the amount of Down syndrome research dollars from the National Institutes of Health in the last few years the role of groups like DSRTF has become critical to continued progress in the effort to help 350,000 Americans with Down syndrome.”

This new grant adds a third novel potential therapeutic target to the DSRTF-supported research portfolio, which also includes two additional recently discovered potential therapeutic targets currently under investigation at Stanford University School of Medicine. DSRTF’s Scientific Advisory Board unanimously agreed that the new research is intriguing and closely aligns with DSRTF’s mission of accelerating research that will lead to a treatment to improve learning and memory in individuals with Down syndrome.

Thursday, October 25, 2007

Turmeric is needed at a young age!

The abstract below shows that they detected Abeta levels in the spinal fluid of children with DS at a very young age (8 mths, being the youngest one they tested!). This shows all the more reason to supplement accordingly to deal with the bad effects of the APP gene triplication - it is causing problems very early on. Turmeric helps break-up Abeta plaques and tangles (in the brain - part of the AD pathogenesis). We supplement my brother with Turmeric. He gets it in his NTV-D and we also give him some extra at times (although I think we will be more consistent now, especially after doing some of this reading).

Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down


Background: Individuals with Down syndrome (DS) invariably develop
Alzheimer's disease (AD) during their life span. It is therefore of
importance to study young DS patients when trying to elucidate early events
in AD pathogenesis. Aim: To investigate how levels of different amyloid-beta
(Abeta) peptides, as well as tau and phosphorylated tau, in cerebrospinal
fluid (CSF) from children with DS change over time. The first CSF sample was
taken at 8 months and the following two samples at 20-40 and 54 months of
age. Results: Individual levels of the Abeta peptides, as well as total
Abeta levels in CSF increased over time when measured with Western blot. Tau
in CSF decreased whereas there was no change in levels of phosphorylated tau
over time. Conclusion: The increasing levels of Abeta in CSF during early
childhood of DS patients observed in this study are probably due to the
trisomy of the Abeta precursor APP, which leads to an overproduction of
Abeta. Despite the increased CSF concentrations of Abeta, there were no
signs of an AD-indicating tau pattern in CSF, since the levels of total tau
decreased and phosphorylated tau remained unchanged. This observation
further strengthens the theory of Abeta pathology

Wednesday, October 24, 2007

Turmeric helping AD again!

I read about the following abstract in LEF's newest magazine. I thought it was pretty interesting. Basically it is saying that by giving these people with AD curcuminoids (the active ingredient in Turmeric) that it increased the absorption of amyloid-beta (which is a good thing). AB creates plaques and tangles in the brain and that is part of the problem in AD. The curcuminoids helped strengthen the immune system of these people to be able to deal with the AB.
Curcuminoids enhance amyloid-β uptake by macrophages of Alzheimer's disease patients

Laura Zhang A1, Milan Fiala A1, John Cashman A2, James Sayre A3, Araceli Espinosa A4, Michelle Mahanian A1, Justin Zaghi A1, Vladimir Badmaev A5, Michael C. Graves A6, George Bernard A4 A7, Mark Rosenthal A1


Treatment of Alzheimer's disease (AD) is difficult due to ignorance of its pathogenesis. AD patients have defects in phagocytosis of amyloid-β (1-42) (Aβ) in vitro by the innate immune cells, monocyte/macrophages and in clearance of Aβ plaques [5]. The natural product curcuminoids enhanced brain clearance of Aβ in animal models. We, therefore, treated macrophages of six AD patients and 3 controls by curcuminoids in vitro and measured Aβ uptake using fluorescence and confocal microscopy. At baseline, the intensity of Aβ uptake by AD macrophages was significantly lower in comparison to control macrophages and involved surface binding but no intracellular uptake. After treatment of macrophages with curcuminoids, Aβ uptake by macrophages of three of the six AD patients was significantly (P<0.001>

Wednesday, October 17, 2007

Love & Learning in the News

Daughter's disability serves as motivation for this family
October 16, 2007



Nearly 23 years ago, a doctor stared at a happy couple with a newborn daughter and told them she'd probably never read.

But instead of taking the news with tears and defeat, Joe and Susan Kotlinski looked at their baby girl, Maria, diagnosed with Down syndrome, and decided to turn the prognosis into motivation.

Today, Maria Kotlinski not only reads, she volunteers at a hospital and child care center, takes jazz dance classes and plays the piano.
Working out of their living room in Dearborn, the Kotlinski family has developed a reading system targeting special needs children, particularly those with Down syndrome and autism. Their company, Love and Learning, has touched 6,800 families worldwide.

"We were faced with a challenge that changed our life completely," said Joe Kotlinski, a 53-year-old Ford retiree who worked on the automaker's technical hotline.

They use instructional books and computer programs, but their most successful approach has been with DVDs.

"We know the average child watches 5,000 hours of TV before first grade," Joe Kotlinski said. "We use TV in a very constructive way."

The key to the Kotlinski family's success is repetition and starting early with children.

"The first thing we do with parents is congratulate them on their newborn, because what you get in hospitals and the perception of your child can be scary," Joe Kotlinski said. "Then we tell them about Maria -- she was reading a thousand words by age 5. That opens their mind."

But the most important message for these parents is immediacy: "We tell them to start now. Don't expect the school system to be able to teach your children to read."

The videos focus on simplification. The words on the screen appear by themselves: black words with a white background. The next frame shows an image of the words. The first kit, for example, teaches the alphabet and about 24 words.

And the lessons are intentionally short: only 2 to 4 minutes a day.

"We try to stimulate the child to try and imitate sounds and play around with sounds," Susan Kotlinski said. "Those sounds are the building blocks of spoken words."

One of their satisfied customers is Wayne County Medical Examiner Carl Schmidt, whose 3-year-old son, Lawrence, has Down syndrome.

"They provide the tools to help parents make that commitment, which I think is their most significant achievement," Schmidt said. "When you have a child with a disability, you become aware of the many misconceptions regarding particular ones, even among the medical community."

Schmidt said his first meeting with Maria Kotlinski surprised him.

"I was taken aback by the clarity of her diction and enunciation," he said. "Although it's obvious that her parent's efforts had much to do with it, their systematic way of approaching language instruction also played an important role."

Maria has a close relationship with her parents and younger sister, Lea, 21. They joke about Maria's piano playing, her dancing classes and proudly sit back as she describes her job duties as a volunteer at Cotter Early Childhood Center in Dearborn.

"I interact with the children," Maria said. "I play with them. I help them with their work and I keep them safe."

Joe Kotlinski still marvels at this foray into the world of educating kids with special needs.

"It's really turned into a wonderful opportunity to help people," he said. "The word 'miraculous' is appropriate. But it's not just for Maria. It's there for a lot of children."

Tuesday, October 16, 2007

Blood Test Could ID Alzheimer's Patients

Blood Test Could ID Alzheimer's Patients

Researchers at Stanford University say they have developed a potentially pathbreaking blood test that could help to identify patients with Alzheimer's disease.

According to a paper published in the online edition of the British journal Nature Medicine, preliminary studies by a team of scientists led by a Stanford neurology professor show the test is yielding promising results in predicting which patients with mild memory loss are at high risk of developing Alzheimer's disease.

In a study of 259 blood samples, the test identified early markers for Alzheimer's with 90 percent accuracy, reports CBS News correspondent John Blackstone.

Today only an autopsy can establish for sure that a patient had Alzheimer's. Brain scans and spinal taps are helpful but they're not certain.

There is still plenty of lab work to be done, more rigorous research before it's proven a simple blood test can diagnose Alzheimer's, but those working on the test are hopeful it can be approved for use by 2009, adds Blackstone.

Currently, an early Alzheimer's diagnosis requires complex brain scans. Spinal fluid can also reveal the disease but that can be a difficult and painful test.

Monday, October 15, 2007

Another couple with Down syndrome to Wed!

The link to this news story was posted on various yahoo lists. A couple with Down syndrome, Josh Putnam & Bernadette Resha, from Tennesse are engaged and set to marry in November 2007.

Here's the link to the story:

Couple with Down Syndrome Prepare to Wed

Wednesday, October 10, 2007

Abortion: The perfect 'cure' for Down syndrome?

Abortion: The perfect 'cure' for Down syndrome?

Posted: February 22, 2007

By Mark P. Mostert, Ph.D.

Dwight Core Jr. is 47, reported the Virginian Pilot Feb. 11. He likes to color using crayons from a Ziploc bag. Watching TV is fun, too. Dwight has Down syndrome.

"Think of Me First as a Person," a 7 1/2 minute home movie of his life, filmed by his father and collated by his nephew, has been the talk of the film festival circuit. It documents happy times, but also the heartbreak of Dwight's institutionalization for most of his teen life. Last December, along with Alfred Hitchcock's "Notorious," it was added to the highly selective National Film Registry by the librarian of Congress. Dwight is one of the lucky ones – he is loved. And alive. Alive to smile when he recognizes himself on the screen. Alive to enjoy coloring.

The Nazis called people like Dwight "useless eaters." The American College of Obstetricians and Gynecologists, or ACOG, calls them a disagreeable symptom of a less than perfect pregnancy.

Last month ACOG recommended that all pregnant women, regardless of their age, be offered screening for Down syndrome because improved diagnostics now more accurately detect Down syndrome earlier in pregnancy. Conveniently, this makes the option of choosing abortion easier. Or, as ACOG delicately puts it, screening allows OB-GYNs "to best meet the needs of their patients." Here, of course, getting rid of the mother's pregnancy is the "need" that has to be met.

The reality is that once a Down diagnosis is given, counseling of the parents is often biased against completing the pregnancy. Parents are much more likely to be told that a Down child will have a low quality of life or that he will require expensive medical care over his entire lifespan. A positive counterbalance is rare.

Essentially, ACOG's latest recommendation has taken a giant leap toward making the abortion of preborn children with Down syndrome socially acceptable, using the "it's for the best" excuse.

The tragic result? More of these children's lives are ended before they even draw their first breath than ever before.

Unborn Down children now are considered a medically negative symptom of pregnancy.

That's what we used to think of them decades ago: Imperfect beings with mental retardation and chronic medical problems that needed to be shut away because they were different. No school. Few, if any, friends. No real life to speak of.

Parents and other advocates have fought long and hard to have people with Down included in all aspects of society. Their efforts have meant increased tolerance and respect for the differences associated with the syndrome. Today, people with Down in the U.S. are arguably better served and included than ever before. Their increased public visibility has helped us all become more mindful of our common humanity.

Yet these humanitarian gains may be slipping from our grasp. Times have changed, and not for the better. If recommendations such as those of ACOG are followed, children with Down syndrome, in increasingly large numbers, will literally disappear – from our schools, our malls, our businesses, and our lives. In the oxymoronic world of "bioethics," this entire group of people would be denied the right to exist because they are unable to make the case for why they should even be born.

So, is ACOG really trying to rid the world of people with Down syndrome?


In fact, we can safely say that they finally have found a perfect cure: Without exception, every case of Down syndrome can be cured by abortion. What better way to address the dreaded symptom of an imperfect pregnancy than to simply get rid of it?

This is exactly what ACOG's recommendation makes clear: This defect must be eradicated. Entirely. Killing as a preferred medical treatment. Killing for the greater good. What's not to like?

So, for an increasing number of Down children, their individual and group identity is being obliterated by the zealous over promotion of unblinking medical tests. The justification of whether they live or die is made for them – without their consent – by medical organizations like ACOG who've added a sophisticated insanity to the now-quirky notion of "Do no harm."

Mark P. Mostert, Ph.D., is director of the Institute for the Study of Disability and Bioethics at Regent University in Virginia Beach, Va., where he is also professor of special education.


To find out more information on Dr. Mostert, see the link below:

Dr. Mostert's university home page. There are also links off of it to his new institute and a web project called, Useless Eaters.

Friday, October 5, 2007

New Studies!

Here are the links to new studies that have been done on DS. These are studies that were published in either September or October.

Haematology of Down syndrome.

Mental retardation in Down syndrome: From gene dosage imbalance to molecular and cellular mechanisms.

[Reflections on mental retardation and congenital hypothyroidism: Effects of trace mineral deficiencies.]

Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome.

Potential Interaction Between the GARS-AIRS-GART Gene and CP2/LBP-1c/LSF Transcription Factor in Down Syndrome-related Alzheimer Disease.

DYRK1A-mediated hyperphosphorylation of Tau: A functional link between Down syndrome and Alzheimer's disease.

Down syndrome: a novel risk factor for respiratory syncytial virus bronchiolitis--a prospective birth-cohort study.

A year of unprecedented progress in Down syndrome basic research.

Alzheimer's disease in Down syndrome: Neurobiology and risk.

Genetic mechanisms involved in the phenotype of Down syndrome.

Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome. * I find this very interesting!*

Prenatal Diagnosis . . .

I was searching PubMed late last night to see what was new in the research area of Down syndrome. While there was a pretty good amount (10 or so) of new studies in the area of finding out research to help individuals with Down syndrome, there were alot (15!) of studies in the October issue of the journal, "Ultrasound in Obstetrics & Gynecology" for ways to identify babies with Down syndrome in-utero; in the first or second trimesters. This does not count the other studies (there were quite a few of those too) which are published in other medical journals on the subject of prenatal diagnosis of DS.

These studies can be a good thing, if the parents want to know their child has Down syndrome so they can be prepared to meet any of the baby's medical problems at birth. But, sadly, in our society today, these ways to identify a baby with DS in utero, will be used for termination.

Already, there is a horrible statistic that 90% of babies with DS are aborted!

It's too bad so much effort is bing put towards ways in which these babies will be killed (aborted), instead of the much needed research of ways to help these individuals once they are born and through their life.

Yes, there is research which is currently being done to help these individuals, but there is a whole lot more focus on ways to "identify" them in utero.

This is what was Dr. Jerome Lejeune's (discovered Trisomy 21) discouragement,

To his great despair, however, it became "fashionable" to destroy the patients which could not
be cured. Whereas the results of his research should have led to the advance of medical
knowledge on the road to finding a cure, instead, they were used for the earliest detection of
children suffering from such disorders, and in most cases to destroy them. "

Thursday, October 4, 2007

Our Experience

This is something I post often on various listservs. I thought I'd post it up here, incase some may find it interesting.

We first heard about TNI when my brother was 8 months old. That's when we started him on it. It has helped him TREMENDOUSLY!!! I'll give you a bit of history, so you can understand - for the first several months of my brother's life he had a HORRIBLE time gaining weight. We spent lots of hours and paid lots of visits to the doctor's office, because they were concerned about his lack of weight gain. He spit up ALOT. We went back and forth with the docs trying to figure out how to do different things to help him gain weight. None of it really worked. We asked them about his thyroid (thyroid problems are common to DS and low weight gain is a sign of hypothyroidism). They told us it was fine (he had it checked at birth - they told us it was fine, but we never saw the results). Anyways, when he was 8 months old, we switched doctors and his new doctor ended up calling us saying he was borderline hypothyroid. Through research we realized this explained my brother - the reflux, poor weight gain, etc. We ended up finding out that his thyroid was messed up back at birth, but we didn't know better at the time. So, after we found out about my brother's thyroid problem at 8 mths old, we started researching things out - natural ways to help his thyroid and in that research process we came across TNI. After we started TNI, within days and weeks, my brother started gaining weight (he has a twin sister and he caught up to her - today he weighs more than her), his spitting up slowed down and eventually stopped - he doesn't spit-up now unless somefood bothers him. He looked SO much better and healthier, because he was actually able to keep things in him and gain some weight (GROW!). His tone improved greatly, he was able to sit within a month (he was nowhere near that before TNI). He started progressing majorly in motor skills and awareness. He became so much more alert and in-tune to the things going on around him. A couple months after we started TNI, we ended up finding out that he was zinc and selenium deficient (which is common to DS). Zinc deficiency is related to poor growth (another thing which explained my brother). So, we started giving him extra zinc and that helped him greatly. He was pulling to stand and standing at 13/14 months. He was crawling at that time too. He learned to walk at 17 1/2 months. I know that God used the TNI to help my brother's life out tremendously. If we had not found TNI, I really wonder how my brother would be today :(. My brother says several words now and he is so active and full of energy. He is such a smart little boy and understands SO much! He takes the Nutrivene-D Daily Supplement and Nighttime Formula. We started the Nighttime formula a few months after starting the daily supp (thanks to Dr. L encouraging us to do so :)) and that has helped him alot. He has grown so much more since we started him on that.

Let me also mention something else - Not everyone will see major changes when they start giving Nutrivene-D, particularly as drastic as my brother's, but even if you don't see changes, it is still doing benefits. As Dr. Leichtman says, we need to look at this as a marathon, not a sprint. It's what it does over the long run that is the biggest advantage. It's best if you start giving it to your child as early as possible, than wait until you have a problem and you notice a huge difference in him. It's such a huge pet-peeve of mine when people say "well, I used to have my kid on TNI, but didn't see any changes, so I took him off." We cannot see all that is going on inside of the child - and, no, blood tests do not show everything either.

Monday, October 1, 2007

October is Down Syndrome Awareness Month

Yep, that is right, October is Down Syndrome Awareness Month. October has been Down Syndrome Awareness Month Since 1981. To see more information about it, here are some links:

-- National Down Syndrome Society
-- Buddy Walk


I am finally finished with uploading the designs for the shirts. It'll be some time before I have the time to make some more designs, so these will have to do for now. If you would like a custom design done, I am able to do that at anytime.

The links:

And, the bumper sticker link is:

Spoon Feeding

There's been talk and discussion about spoon feeding and the "proper" way to do it, even for babies - starting as soon as they are able to eat solid food - on some lists and groups I am on. I've posted the description of how to do it, but I know it can be kind of confusing as to how it should be done. I took some pictures of us feeding my brother this way, then lost them, but finally found them the other day. I was able to upload them last night and I put them up on our site.

They can be seen, along with the information on spoon feeding at,

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