Wednesday, August 31, 2011

Why is There Such a Huge Range in People with Down Syndrome?

A mom, Nina R, on the Einstein-Syndrome list asked why there is such a range of symptoms in people with Down Syndrome. Why do some people with DS seem to be "severely affected" why do others with DS seem to be "higher functioning."

It's an interesting question. Another mom, Kris B, responded with a very in-depth answer that hit the nail right on the head.

With Kris' permission, I am posting her reply here.

Going way back to the cob web corners of my mind, I can pull out some ideas from my freshman genetics course that may answer this.  There is is a huge range of features/symptoms/abilities because there's huge variation in genetic make-up.  Genes exist in many different forms, called "alleles", and there are hundreds of genes on that chromosome.  No two people's genetic make-up is identical (except for identical twins of course).

There are so many alleles and so many genes that the combination possibilities are probably close to infinite.  Genetic variation is what makes us all so amazingly and dramatically different. So an extra chromosome disorder is going to express differently in every single person because of their unique combination of genetic alleles on that chromosome.  There are similarities in symptoms/features because each chromosome has a specific set of genes, so for the most part, the same "things" (proteins, hormones, chemicals, cellular processes) are affected, but how they are affected is dependent upon the alleles on that chromosome and the genes/alleles responsible for how that chromosome is expressed.

For example, say the extra chromosome contained the gene for hair color. Now, everyone with that extra chromosome is not going to have the same hair color.  If my son had the gene alleles for blond hair, then maybe with that extra chromosome, the hair color gene expresses twice as much and he has super blond hair or maybe that extra expression causes the release of more pigment so that his hair is much darker than it might have been.  But (without a completely unrelated mutation) his hair is not going to be black because he had no gene alleles for that.

Even more variation is added in when you take into account mutations that can occur when genes are in the wrong place on a chromosome or are switched between chromosomes.  All of this adds infinite variation into the genetic makeup of the baby even before he/she is born.  And the variation doesn't stop there, once born, there are tons of environmental and natural factors that also have an effect.  Maybe the extra chromosome causes an imbalance so that the child is severely depleted in Vitamin D, but that child lives in Florida and spends tons of time in the sun - that imbalance may never be expressed and/or known because it is already being fully compensated for just by lifestyle.

There is so much variation built into our genes that it is somewhat surprising that people with DS have so many "features" in common.  That is indicative of the 21st chromosome being pretty well conserved - meaning that the genes that are on that chromosome do not change position and/or swap out with genes on other chromosomes very frequently.
There are actually some of the chromosomes for which genes are routinely swapped around, which adds even more variation - because what chromosome and even where on a chromosome a gene is, highly effects how often it is going to be expressed.  So to clarify the difference between genes being swapped within a chromosome, genes being swapped being chromosomes, and chromosome duplication (T21), we can use a cake baking analogy:

Say there is a cabinet with 3 shelves on it and all of the ingredients to bake the cake are placed in specific locations on the shelves.  The cabinet is the chromosome, the ingredients are the genes, and the shelves represent the positions of the genes on the chromosome.

The first shelf i has butter and sugar, the second shelf has eggs and flour, and the third shelf has the flavoring and baking soda.  For a "normal" cake, the ingredients on the first shelf are "expressed" or used first and 1 cup of sugar and 2 sticks of butter are added.  Then the second shelf ingredients are expressed and 2 eggs added and 3 cups of flour.  Then the 3rd shelf is expressed and a tsp of each flavor and the baking soda is added.  Then the cake is baked and turns out as expected.

A gene switch within a chromosome would equal the locations of baking soda and flour being switched.  The baker doesn't know to grab the flour on the 3rd shelf - they just grab whatever's on the second shelf and add it in the amounts told to.  So now 3 cups of baking soda are added with the eggs, and then, when the third shelf ingredients are expressed, only 1 tsp of flour is added.  This would be a bad mutation.  A less obvious mutation would be that maybe two of the flavorings switch places on the 3rd shelf.  This may not even be noticed at all.

A gene switch between chromosomes would equal butter being replaced by something not found in this cabinet - something like carrots.  Two sticks of carrots are added from the first shelf instead of butter.  This would be a pretty destructive mutation.  Maybe instead carrots, the butter switches with lard - that might not be as bad of a mutation and may never be noticed and maybe it might end up being even better.

An extra chromosome would be like adding another second shelf (and second shelf ingredients) so now twice as many eggs and flour is added as the second step.  Therefore, the ingredients are out of balance and the cake does not turn out as expected.  Depending on what ingredients in what ratios are on that shelf will affect how "mild" or "severe" the cake turns out.  That is why people think that there are grades of Down Syndrome, when it's really just a yes/no question. Do you have an extra chromosome?  yes or no.  You can't have a little or a lot of DS.  You have it or you don't.  It's just the resulting problems that are so variable due to inherent genetic variability as well as environmental, parental, and other external influences.

Where TNI comes in is the theory that if you know what ingredients were added in duplicate, then adding in twice of the rest of the ingredients (or removing half of the extra ingredients) should create the proper balance leading to proper baking and development of the cake. I believe that by doing this, it is possible to achieve typical development and above because we are working so much harder at achieving the right balance for growth and development. Everybody - normal and DS alike - have genetic mutations that throw off balances here and there on the cellular level (genetic variation and mutations), most of us do not eat right or take the right vitamins, so these imbalances, which are usually not severe, are not corrected and cause limitations in some microscopic way.  By focusing so much on every aspect of nutrition and cellular balance, we are fine tuning our kids bodies to function at their highest possible level.

Country Girl Designs

Monday, August 29, 2011

Firefighters Teach Kids with Down Syndrome

This article came through a google alert, so I thought I would share it.

Firefighters teach skills to Down's Syndrome kids

1:00pm Wednesday 24th August 2011
By Katie Bond 

YOUNG people with Down’s Syndrome are developing their skills with Swindon’s firefighters this week.
A group of 16 people, aged from 12 to 24 and all members of the Swindon Down’s Syndrome Group, are currently spending the week with Wiltshire Fire & Rescue Service to experience a basic fire and rescue training course.

Known as Salamander, the programme encourages participants to work as a team, while building up confidence..

It involves firefighting skills with hose, pumping appliances and hydrants; abseiling; ladder climbing; search and rescue; casualty care; road traffic collision rescue skills; and water rescue.
On Friday, the group will put on a display of their new-found skills for family, friends and senior Fire & Rescue Service officers.

Watch Manager Mark Evans, who is organising the course, said this was the third time Salamander had been run for people with Down’s Syndrome in Wiltshire.

He said: “The two previous courses we’ve run with Swindon Down’s Syndrome Group have been incredibly successful for the young people involved, but they were also really moving for the instructors.
“We always enjoy seeing the participants blossom as the week goes on, but the changes we see with these young people are just amazing.”

He added: “Salamander is usually aimed at young people who need a steer in life, and we use the sessions to highlight the consequences of certain behaviours.

“With the Down’s Synd-rome programme, we focus on self-esteem and teamwork, allowing the young people to learn new skills and then work with others to achieve their aims.”

For more information on the Salamander project, log onto
If you would like more information on the Swindon Down’s Syndrome group, log on to

Country Girl Designs

Friday, August 26, 2011

Research on the Cerebella for Motor Skills & Coordination in DS

This research just recently came through some DS listservs I'm on, so I thought I'd share it.

AURORA, Colo. (Aug. 24, 2011) – A scientist investigating why those with Down syndrome often have poor balance and motor coordination has found that key eye reflexes are substantially altered.
The findings by University of Colorado School of Medicine researcher Alberto Costa, MD, Ph.D., could lead to new tools to assess the effectiveness of new drugs and therapies aimed at improving quality of life for those with this genetic disorder.

"People with Down syndrome suffer various degrees of motor difficulty," said Costa, whose study was published last week in the journal, Experimental Brain Research. "They tend to walk later than their typical peers; they often lack balance and have low muscle tone and poor postural control."

That's likely because Down syndrome affects the optokinetic and vestibular systems of the brain. In a healthy brain, the vestibular system reacts to signals from neuroreceptors in the inner ear to produce responses to head movements. The optokinetic system uses visual information to produce eye movement. These reactions are often slow or decreased in those with Down syndrome.

Costa studied 32 participants between the ages of 14 and 36. He used special binocular goggles to measure eye movements in response to visual and vestibular stimuli. His focus was the cerebellum which is responsible for balance, posture and movement control.

"Although we have known for many years that the cerebellum is disproportionally shrunk in persons with Down syndrome, we wanted to find out how their cerebella operated on a functional level," Costa said. "We found that people with Down had much diminished optokinetic and vestibular reflexes compared to typically developing individuals. As a consequence, it is likely that things may appear blurry when they ride a bike or play sports."

Because those with Alzheimer's disease also show a similar reduction in the optokinetic reflex, these new findings further support Costa's ongoing exploration of the links between Down and Alzheimer's disease.
"All individuals with Down syndrome develop a neuropathology indistinguishable from Alzheimer's disease after the third decade of life," he said.

Babies born with Down often carry the biological markers for Alzheimer's. At the same time, 20-30 percent of those with Down syndrome develop full-blown Alzheimer's dementia by the time they reach their 50s, he said.

Costa recently completed a clinical trial with the drug Memantine – used to treat Alzheimer's patients - to determine if it could boost memory and learning in those with Down syndrome. His work was chronicled in a lengthy New York Times Magazine profile earlier this month.

"Alzheimer's patients suffer similar declines to those with Down syndrome and we might be able to use the same drugs to treat both," he said. "As we continue to explore how these two conditions are linked, new avenues of treatment could arise that would not only alleviate symptoms but perhaps delay or stop the progression of these degenerative disorders."

Costa's study was supported by the Coleman Institute for Cognitive Disabilities at the University of Colorado and the Linda Crnic Institute for Down syndrome.

Faculty at the University of Colorado School of Medicine work to advance science and improve care. These faculty members include physicians, educators and scientists at University of Colorado Hospital, Children's Hospital Colorado, Denver Health, National Jewish Health, and the Denver Veterans Affairs Medical Center. Degrees offered by the CU Denver School of Medicine include doctor of medicine, doctor of physical therapy, and masters of physician assistant studies. The School is located on the University of Colorado's Anschutz Medical Campus, one of four campuses in the University of Colorado system. For additional news and information, please visit the UC Denver newsroom online.

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Wednesday, August 24, 2011

How to Deal with Reflux

In light of Monday's post on reflux medications, I thought I would share some of the first options which should be looked at if you have a child who is dealing with reflux.

Reflux, also known as Gastoesophageal Reflux Disease (GERD) is very common. There are many, easy dietary fixes that work most of the time. There's a time and place for medication. But, many times an issue such as reflux is easily resolved just by changing the diet. And also looking into other health problems.

The first three things I ask when talking to someone about reflux is:

-Is the child dairy free (cow-milk based dairy products in particular)?

This is an extremely common problem. It's either a milk allergy, lactose intolerance (SO common!), casein intolerance, or the child's digestive tract just has issues digesting dairy. Cow milk-based products, in particular, are very hard to digest and cause a lot of irritation in the GI tract.

Going dairy free is really not that hard. It's nice if you can have something to replace the cow-milk dairy. We raise goats for that reason. But, there is also almond milk, rice milk and soy milk. Although, I recommend staying away from soy because of it's negative affects on the thyroid.

-Is the child gluten free (wheat, barley & rye)?

Gluten intolerances, Celiac Disease or a gluten allergy are all extremely common in both the population with DS and the general population. A gluten intolerance or Celiac Disease often times go hand-in-hand with a dairy intolerance. The proteins are very similar and therefore equally hard to digest. Gluten can cause a lot of GI issues, with reflux being one of them.

Going gluten free is a little more challenging than going dairy free. But, it's really not all that hard either. Our whole family (13 of us!) are gluten-free. Initially it was a little overwhelming, but there is so much you can do to replace gluten, it's quite easy. It just takes making things a little differently. Because gluten intolerance and Celiac Disease is so common, there are many equivalents to the regular gluten-made foods. Everything is made with rice flour, sorghum flour, potato starch, garbanzo bean flour, cornmeal, corn flour, xanthan gum, guar gum, etc. It just takes learning what to use differently.

-Does the child have any thyroid problems?

This is something that one may not initially think is involved with reflux, but it is. Especially hypothyroidism or a high TSH. This would definitely be something to look into, if you haven't already.

Taking thyroid medications is a quick way to fix the thyroid. Although, one must be careful when treating the thyroid with medications, if there is not a true thyroid problem (such as JUST a high TSH, but no other symptoms).

Coconut Oil also really helps deal with the thyroid and keep it under control. Low Zinc and Iron also play a big role in a high TSH and poor thyroid function. Those would be two other things to get tested and look into supplementing with them.

You can also go to the extreme of trying a gut healing diet, such as the GAPS diet, for dealing with reflux.
This will help with the reflux, because it will deal with healing the whole gut and get to the core of the issue, as to why there is any reflux.

Some links for the GAPS diet are:

Personally, I'd try the top 3 things first - dairy, gluten & thyroid - and then look into doing the extreme of a gut healing diet. This is what we've done and so far, O is not on the GAPS diet. He may be on it someday, but as of right now, he is doing really well avoiding cow (& sheep!) dairy, gluten, and has a good TSH.

Country Girl Designs

Tuesday, August 23, 2011

The book is on Barnes & Noble and more online stores!

I did a random search today for my name just to see what would come up. And what do you know, I found some useful information!

Our book, Down Syndrome: What You CAN Do, is available at Barnes & Noble, (Good for Canadian families), (Good for European families) and many other online bookstores. I have no way of knowing how many of these books are sold, so I can only hope that the book is actually reaching a larger audience than we know!

How exciting!

Here are the links:

Barnes& (Canadian families!) (European families!)

I also found a few other miscellaneous online bookstores that carry it. Some of the prices are a fair amount higher than just the retail price (which the 3 links above have). But I thought I'd include them here.

Of course, if you get it directly from the printer,, it's the cheapest. But, sometimes it may not be the easiest, especially for the Canadian or European families. This is the direct link to the book,

And there is also the book available at

Country Girl Designs

Monday, August 22, 2011

Deficiencies caused by Reflux Medications

Reflux can be a common problem in people with Down Syndrome. I know it's a topic which is talked about often on many of the DS listservs I'm on. And I reference this information frequently, so I thought it would be good to do a blog post about it.

Many people end up on Reflux medications, instead of looking at possible issues in the diet & body for why there may be reflux. While reflux medications may be important for some, they cause a myriad of nutrient deficiencies, which in turn can lead to many health problems.

There are many things that can be looked at to try to figure out why there is reflux in the first place and other non-medication related ways to deal with it. I'll save that information for a separate post though!

For now, here is the list of reflux medications and all the nutrients the deplete.

List of Deficiencies caused by Reflux Drugs:

Acid-Reducing Drug Nutrient Depletion

Proton Pump Inhibitors:
Omeprazole (Prilosec®)
Lansoprazole (Prevacid®)
Pantoprazole (Protonix®)
Rabeprazole (Aciphex®)
Esomeprazole (Nexium®)

Histamine Antagonists:
Cimetidine (Tagamet®)
Famotidine (Pepcid®)
Nizatadine (Axid®)
Ranitidine (Zantac®)


Vitamin B12 (1, 10,11,12)
Depletion of vitamin B12 includes: Fatigue, Peripheral Neuropathy, Tongue and mouth irregularities, Macrocytic anemia (abnormally enlarged red blood cells), Depression, confusion and memory loss (especially in the elderly), Poor blood clotting and easy bruising, Dermatitis and skin sensitivity, Loss of appetite, Nausea, and Vomiting.

Beta-Carotene (1, 13)
Beta -carotene depletion may cause a weaker immune system , and cancer.

Vitamin B12 (1, 2)
Anemia, tiredness, weakness, peripheral neuropathy, tongue and mouth irregularities, enlarged red blood cells (macrocytic anemia), depression, confusion, memory loss, poor blood clotting or easy bruising, dermatitis, skin sensitivities, loss of appetite, nausea, vomiting

Folic Acid (1, 3)
megaloblastic anemia, birth defects, cervical dysplasia, elevated homocysteine, headache, fatigue, hair loss, anorexia, insomnia, diarrhea, nausea, increased infections

Iron (1, 4)
Menstrual bleeding, pagophagia (consuming large quantities of ice), hypochlorhydria, diarrhea, intestinal inflammation, hair loss

Calcium (1, 6, 7)
Rickets, osteoporosis, magnesium deficiency, intestinal inflammation increased phosphorus ingestion (with soft drinks etc.), increased caffeine intake, excess dietary fat and fiber, lack of exercise.

Vitamin D (1, 8)
Rickets, low dietary Vitamin D intake, limited sun exposure, kidney or liver malfunctions, osteoporosis, osteomalacia, hearing loss, muscle weakness, severe tooth decay, phosphorus retention

Zinc (1)
Acne, impaired sense of taste and smell, delayed wound healing, anorexia, decreased immunity, frequent infections, depression, photophobia, night blindness, skin, hair, and nail problems, menstrual problems, joint pain, involuntary eyeball movements (nastagmuas).

1.Pelton R., La Valle JB, Hawkins EB, et al. Drug Induced Nutrient Depletion Handbook. 1999-2000. Lexi-Comp,Inc. pp. 250-53, 262-69, 294-97, 300-07, 404-410, 426.
2.Force RW, Nahata MC. "Effect of H2-Receptor Antagonists on Vitamin12 Absorption." Ann Pharmacotherapy. 1992. 26(10): 1283-86.
3.Russel RM, Golner BB, Krasinski SD , et al. "Effect of Antacids and H2 Receptor Antagonists on the Intestinal Absorption of Folic Acid." Journal of Laboratory and Clinical Medicine. 1988. 112(4): 458-63.
4.Campbell NR, Hasinoff, Meddings JB, et al. "Ferrous Sulfate Reduces Cimetidine Absorption." Digestive Disease and Sciences. 1993. 38(5): 950- 54.
5. Partlow ES, Campbell NR, Chan SC , et al. "Ferrous Sulfate Does Not Reduce Serum Levels of Famotidine or Cimetidine After Concurrent Investigation. Clinical Pharmacology and Therapeutics. 1996. 59(4): 389-93.
6.Bo-Linn GW, Davis GR, Buddrus DJ, et al. "An Evaluation of the importance of Gastric Acid Secretions in the Absorption of Dietary Calcium." Journal of Clinical Investigation. 1984. 73(3): 640-47.Â
7.Merenich JA, Georgitis WM, and Clark JR. "Failure of Cimetidine to Reduce Postoperative Hypocalcemia in Patients With Primary Hyperparathyroidism Undergoing Neck Exploratory Surgery." Surgery. 1993. 133(6): 619-23.
8.Bengoa Jm, Bolt MJ, and Rosenberg IH. "Hepatic Vitamin D 25 Hydroxylase Inhibition by Cimetidine Isoniazid." Journal of Laboratory and Clinical Medicine. 1984. 104(4): 546-52.
9. Lacy CF, Armstrong LL, et al. Drug Information Handbook. 1999-2000. Lexi-Comp, Inc. pp. 174, 424, 480, 512, 585, 1239.
10.Bellou A, Aimone-Gastin I, De Kowin JD, et al, "Cobalamin Deficiency With Megaloblastic Anemia in One Patient Under Long-Term Omeprazole Therapy," J Intern Med, 1996, 240(3):161-164.
11.Mercuard SP, Albernaz L, and Khazanie PG, "Omeprazole Therapy Causes Malabsorption of Cyanocobalamin," Ann Intern Med, 1994, 120(3):211-5.
12.Termanini B, Gibril, Sutliff VE, et al, "Effect of Long-Term Gastric Acid Suppressive Therapy on Serum Vitamin B12 Levels in Patients With Zollinger-Ellison Syndrome," Am J Med, 1998, 104(5):422-30.
13.Tang G, Serfaty-Lacrosniere C, Camillo ME, et al.  "Gastric Acidity Influences the Blood Response to a Beta-Carotene Dose in Humans,"  Am J Clin Nutr, 1996, 64(4):622-6.

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Friday, August 19, 2011

New Health Care Guidelines for Down Syndrome from the AAP

The American Academy of Pediatrics (AAP) released new health care guidelines for practitioners. I read through the new guidelines, which you can view here, to see what all they included.

I thought I'd comment on a few parts of the guidelines.

The introduction to the guidelines is:

These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician’s initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.
Pretty much all of the language in the paper is written towards pediatricians & doctors. But, it is still good information to have on hand, to see what the doctors are supposed to be doing in their care for people with Down syndrome.

In the section about what the doctor should discuss with the family, upon finding out a diagnosis about Down syndrome, they write,
The prognosis and phenotypic manifestations, including the wide range of variability seen in infants and children with Down syndrome. Families benefit from hearing a fair and balanced perspective, including the many positive outcomes of children with Down syndrome and
their effect on the family. (bold added)
This is something which is oh, so important and is commonly forgotten! I'm glad they included it here, I just hope that the doctors, pediatricians, counselors & OB-GYNs will actually listen to this piece of the article.

Many parents are given the diagnosis in a blunt way and the future is portrayed to be dark & gloomy for their child with Down syndrome. That's what we got when my brother was diagnosed with DS. Sure, there are things that may take more time or need extra care, but it's not a bad thing. My brother is a huge blessing to our family and he definitely has not fulfilled the dark future we were told.

Here is another thing they mention in the first section when the diagnosis is first given,
Currently available treatments and interventions. This discussion needs to include the efficacy, potential complications and adverse effects, costs, and other burdens associated with treatments. Discuss early-intervention resources, parent support programs, and any appropriate future treatments. (bold added)
I like the mention of "any appropriate future treatments" because that could include so many things! It would be nice if every doctor included the use of Targeted Nutritional Intervention, because it is an appropriate "treatment." Unfortunately most doctors don't mention the use of TNI.

Another quote from the first section in the article,
An important aspect of providing information about Down syndrome to families includes first congratulating parents on the birth of their infant.

....It is important that clinicians be cognizant of the realities and possibilities for healthy, productive lives of people with Down syndrome in society.
No need to comment very much on this one. I think it's obvious what is beneficial here. It's very good to see this article mention the positive aspect of things and congratulating the family on the birth of their baby. Every OB-GYN, Pediatrician and Counselor should have this part of the article in their office and routine.

They only briefly mention the use of vitamins in the article,
Discuss treatments that are considered complementary and alternative. Parents need an opportunity to learn objectively which therapies are safe and which are potentially dangerous (eg, cell therapy that may transmit slow viruses and fatsoluble vitamins that can cause toxicity).
Several articles and Internet sites evaluate the legitimacy of claims that are made.
I wish they would've mentioned the use of vitamins more and in a more positive light. They cited three articles, which you can see here, here and here. Those articles are all pretty general on the use of supplements. I wish they would've dug just a little deeper and cited articles which hint towards a positive use of nutritional intervention. There are a lot of studies which suggest nutritional intervention, and even intervention with certain drugs is very beneficial. This study is one such study. There are plenty more which can be looked. If you're curious about seeing more, they are all footnoted here at the footnotes, 1-38, 100-101, 254, 256, 259, 449, & 451.

While there are some positive things in this new health care guidelines, there are still things which are sorely lacking. I'm not really surprised at it, because it is the norm. I just wish it wasn't the norm. I wish nutritional intervention were embraced as a good thing by all those involved with Down syndrome. That's a lot to hope for I guess, when the largest research goal, it seems, is how to prenatally diagnosis babies with Down syndrome.

Country Girl Designs

Wednesday, August 17, 2011

Wordless Wednesday: "Kick-Ball" Saves

Couldn't have a completely Wordless Wednesday post!

Sundays are one of O's favorite days, since it's "Kick-Ball", as he calls it, or Soccer time. (some of his brothers [one of his brothers is in the pics here], cousins & dad play in a local league).

Country Girl Designs

Tuesday, August 16, 2011

'Amazing' therapy wipes out leukemia in study

I came across this recent news article and thought it was very interesting and promising. If there was a way for cancer to be treated without the chemotherapy and the nasty side effects which that causes, it'd be great.

'Amazing' therapy wipes out leukemia in study

NEW YORK (AP) — Scientists are reporting the first clear success with a new approach for treating leukemia — turning the patients' own blood cells into assassins that hunt and destroy their cancer cells.

They've only done it in three patients so far, but the results were striking: Two appear cancer-free up to a year after treatment, and the third patient is improved but still has some cancer. Scientists are already preparing to try the same gene therapy technique for other kinds of cancer.

"It worked great. We were surprised it worked as well as it did," said Dr. Carl June, a gene therapy expert at the University of Pennsylvania. "We're just a year out now. We need to find out how long these remissions last."

He led the study, published Wednesday by two journals, New England Journal of Medicine and Science Translational Medicine.

It involved three men with very advanced cases of chronic lymphocytic leukemia, or CLL. The only hope for a cure now is bone marrow or stem cell transplants, which don't always work and carry a high risk of death.

Scientists have been working for years to find ways to boost the immune system's ability to fight cancer. Earlier attempts at genetically modifying bloodstream soldiers called T-cells have had limited success; the modified cells didn't reproduce well and quickly disappeared.

June and his colleagues made changes to the technique, using a novel carrier to deliver the new genes into the T-cells and a signaling mechanism telling the cells to kill and multiply.

That resulted in armies of "serial killer" cells that targeted cancer cells, destroyed them, and went on to kill new cancer as it emerged. It was known that T-cells attack viruses that way, but this is the first time it's been done against cancer, June said.

For the experiment, blood was taken from each patient and T-cells removed. After they were altered in a lab, millions of the cells were returned to the patient in three infusions.

The researchers described the experience of one 64-year-old patient in detail. There was no change for two weeks, but then he became ill with chills, nausea and fever. He and the other two patients were hit with a condition that occurs when a large number of cancer cells die at the same time — a sign that the gene therapy is working.

"It was like the worse flu of their life," June said. "But after that, it's over. They're well."

The main complication seems to be that this technique also destroys some other infection-fighting blood cells; so far the patients have been getting monthly treatments for that.

Penn researchers want to test the gene therapy technique in leukemia-related cancers, as well as pancreatic and ovarian cancer, he said. Other institutions are looking at prostate and brain cancer.

Dr. Walter J. Urba of the Providence Cancer Center in Portland, Oregon, called the findings "pretty remarkable" but added a note of caution because of the size of the study.

"It's still just three patients. Three's better than one, but it's not 100," said Urba, one of the authors of an editorial on the research that appears in the New England Journal.

What happens long-term is key, he said: "What's it like a year from now, two years from now, for these patients."

But Dr. Kanti Rai, a blood cancer expert at New York's Long Island Jewish Medical Center, could hardly contain his enthusiasm, saying he usually is more reserved in his comments on such reports.

"It's an amazing, amazing kind of achievement," said Rai, who had no role in the research.

One of the patients, who did not want to be identified, wrote about his illness, and released a statement through the university. The man, himself a scientist, called himself "very lucky," although he wrote that he didn't feel that way when he was first diagnosed 15 years ago at age 50.

He was successfully treated over the years with chemotherapy until standard drugs no longer worked.

Now, almost a year since he entered the study, "I'm healthy and still in remission. I know this may not be a permanent condition, but I decided to declare victory and assume that I had won."

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Sunday, August 14, 2011

Memantine for Down Syndrome, Dr. Alberto Costa

Dr. Alberto Costa has been working on studies using Memantine to help people with Down syndrome. He has done mice studies on it and just recently finished a study on people with DS. The results were very good, as you can read below.

We are not going to go out and jump on giving O Memantine right at the moment, but it is something to keep in mind for the future. And to watch research.

Early in the evening of June 25, 1995, hours after the birth of his first and only child, the course of Dr. Alberto Costa’s life and work took an abrupt turn. Still recovering from a traumatic delivery that required an emergency Caesarean section, Costa’s wife, Daisy, lay in bed, groggy from sedation. Into their dimly lighted room at Methodist Hospital in Houston walked the clinical geneticist. He took Costa aside to deliver some unfortunate news. The baby girl, he said, appeared to have Down syndrome, the most common genetic cause of cognitive disabilities, or what used to be called “mental retardation.”

Costa, himself a physician and neuroscientist, had only a basic knowledge of Down syndrome. Yet there in the hospital room, he debated the diagnosis with the geneticist. The baby’s heart did not have any of the defects often associated with Down syndrome, he argued, and her head circumference was normal. She just didn’t look like a typical Down syndrome baby. And after all, it would take a couple weeks before a definitive examination would show whether she had been born with three copies of all or most of the genes on the 21st chromosome, instead of the usual two.

Costa had dreamed that a child of his might grow up to become a mathematician. He had even prevailed upon Daisy to name their daughter Tyche, after the Greek goddess of fortune or chance, and in honor of the Renaissance astronomer Tycho Brahe. Now he asked the geneticist what the chances were that Tyche (pronounced Tishy) really had Down syndrome.

“In my experience,” he said, “close to a hundred percent.”

Costa and his wife had been trying to have a baby for a couple of years. Daisy’s first pregnancy ended in a miscarriage, which they knew can occur because of a genetic disorder in the fetus. When Daisy became pregnant a second time, Costa insisted they get a chorionic villus sampling, an invasive prenatal genetic test. But the procedure caused a miscarriage. (The test showed that the fetus was genetically normal.) Costa vowed that if there was a third pregnancy — this one — they would conduct no prenatal tests.

Now, with Tyche bundled peacefully in a bassinet at the foot of Daisy’s bed, and Daisy asleep, Costa sat up through most of the night crying. He had gone into the research side of medicine in part to avoid scenes like this — parents devastated by a diagnosis. But by morning, he found himself doing what any father of a newborn might: hovering by the crib, holding his daughter’s hand and marveling at her beauty.

“From that day, we bonded immediately,” he told me during one of our many talks over the last year. “All I could think is, She’s my baby, she’s a lovely girl and what can I do to help her? Obviously I was a physician and a neuroscientist who studies the brain. Here was this new life in front of me and holding my finger and looking straight in my eyes. How could I not think in terms of helping that kid?”

With no experience in the study of Down syndrome, Costa took a short walk the next day to a library affiliated with Baylor College of Medicine, where he worked as a research associate in neuroscience. Reading the latest studies, he learned that the prognosis was not nearly as dire as it was once considered. Life expectancies had grown, education reforms had produced marked gains in functioning and — of particular interest to Costa — a mouse model of the disorder had recently been developed, opening the door to experimentation. He soon made a decision: he would devote himself to the study of Down syndrome.

In 2006, using mice with the equivalent of Down syndrome, Costa published one of the first studies ever to show that a drug could normalize the growth and survival of new brain cells in the hippocampus, a structure deep within the brain that is essential for memory and spatial navigation. In people with Down syndrome, the slower pace of neuron growth in the hippocampus is suspected to play a key role in cognitive deficits. Follow-up studies by other researchers reached conflicting results as to whether the drug Costa had tested, the antidepressant Prozac, could produce practical gains on learning tests to match its ability to boost brain-cell growth. Undeterred, Costa moved on to another treatment strategy. In 2007 he published a study that showed that giving mice with Down syndrome the Alzheimer’s drug memantine could improve their memory.

Now Costa has taken the next step: he is completing the first randomized clinical trial ever to take a drug that worked in mice with Down and apply it to humans with the disease, a milestone in the history of Down-syndrome research.

“This was a disorder for which it was believed there was no hope, no treatment, and people thought, Why waste your time?” says Craig C. Garner, a professor of psychiatry and behavioral sciences and co-director of the Center for Research and Treatment of Down Syndrome at Stanford University. “The last 10 years have seen a revolution in neuroscience, so that we now realize that the brain is amazingly plastic, very flexible, and systems can be repaired.”

But the effects of that revolution on Down research may yet be cut short. A competing set of scientists are on the cusp of achieving an entirely different kind of medical response to Down syndrome: rather than treat it, they promise to prevent it. They have developed noninvasive, prenatal blood tests which would allow for routine testing for Down syndrome in the first trimester of a pregnancy, raising the specter that many more parents would terminate an affected pregnancy. Some predict that one of the new tests could be available to the public within the year.

Costa, like others working on drug treatments, fears that the imminent approval of those tests might undercut support for treatment research, and even raises the possibility that children like Tyche will be among the last of a generation to be born with Down syndrome.

“It’s like we’re in a race against the people who are promoting those early screening methods,” Costa, who is 48, told me. “These tests are going to be quite accessible. At that point, one would expect a precipitous drop in the rate of birth of children with Down syndrome. If we’re not quick enough to offer alternatives, this field might collapse.”

So recently was the genetic cause of Down syndrome established that just this past March, Costa actually met the widow of the French scientist, Jérôme Lejeune, who made the discovery in 1959. The scene of their meeting was a Paris conference, named in honor of Lejeune, where neuroscientists from around the world discussed progress into treatments for Down and related diseases. Such a conference would have been inconceivable when Costa entered the field 15 years ago.

“If you think about most genetic diseases, they’re usually caused by one gene, and in fact one mutation at one amino acid,” says Roger Reeves, a professor at the Institute for Genetic Medicine at the Johns Hopkins University School of Medicine. “But with Down syndrome, you have an extra copy of all 500 or so genes on Chromosome 21.” In the first two decades after Lejeune’s discovery, the very idea of grappling with those hundreds of triplicated genes scared off scientists from any serious effort to find a treatment for what they were soon calling “trisomy 21.” It just seemed impossibly complex. “The turning point,” Reeves says, “came when Muriel Davisson made her mouse.”

Davisson, now semiretired from Jackson Laboratory in Bar Harbor, Me., spent the 1980s developing a mouse, known as Ts65Dn, that had many of the traits associated with Down syndrome, including, incredibly, the distinctive facial characteristics associated with the disease and the same slightly uncoordinated gait.

Five years after publishing news of her mouse, Davisson received an e-mail from a young neuroscientist named Alberto Costa. Her work, he told her, opened the door for him to conduct meaningful new drug research.

“It was an epiphany, that, oh, this is a field where I can apply a lot that I’ve learned,” Costa says. “Science is usually unforgiving with people who try to change career paths, but it was a risk I was willing to take.” Having earned his Ph.D. studying the electrical and chemical basis of communication between brain cells, “I figured, O.K., if there is something that can be done in this field, it’s going to be done at that level of neuronal electrophysiology.” After months of reading the latest studies, Costa knew he needed Davisson’s mice.

“He twisted my arm till I took him into my lab,” Davisson says with a laugh. “I didn’t have funding. He wrote a grant to get the funding. He is very enthusiastic.” She also found out that he was a “perfectionist, and not very tolerant of people who aren’t perfectionists. He doesn’t do experiments without being sure he’s doing them right. When he makes a finding, you know that it’s real.”

Using Davisson’s mice, Costa’s 2006 study with Prozac produced cellular changes in the brain. In 2007, Craig Garner at Stanford took the next step, reporting behavioral improvements in Ts65Dn mice after weeks of drug treatment. (Earlier this year, a company he co-founded to pursue that strategy received funding from a venture-capital firm.) Four months later, Costa published his memantine study, showing that a single injection of the drug produced behavioral benefits within minutes, enabling Down-equivalent mice to learn as well as standard mice.

Memantine works, Costa hypothesizes, not by boosting the growth of brain cells but by normalizing how existing cells use the neurotransmitter glutamate. Because people with Down syndrome have three copies of all or most of the genes on Chromosome 21 instead of just two, they have about 50 percent more of any proteins encoded in that chromosome. One result, Costa has shown, is that the NMDA receptors of Ts65Dn mice are “hyperactive” — they overreact to stimuli. By responding to too many things, they learn too little; the signal is lost amid the noise. But giving memantine to quiet the noisy NMDA receptors, Costa has found, makes the brain cells react almost normally.

Other drugs that work on different systems in the brain have also shown benefits in the Ts65Dn mouse. In 2009, Dr. William C. Mobley, chairman of neurosciences at the University of California, San Diego, and one of the most active and visible researchers in the field, co-wrote a study showing that a combination of drugs designed to raise norepinephrine levels in the brain normalized the mice’s learning abilities. Most recently, last year the Nobel laureate Paul Greengard of Rockefeller University showed that memory and learning could be normalized in Ts65Dn mice by lowering levels of beta amyloid, the protein goop that has long been known to clog the brains of people with Alzheimer’s disease.

“There’s been a sea change in our ability to understand and treat Down syndrome,” Mobley says. “There’s just been an explosion of information. As recently as the year 2000, no drug company would possibly have thought about developing therapies for Down syndrome. I am now in contact with no less than four companies that are pursuing treatments.”

Costa’s current memantine study began by testing memory and spatial learning in 40 young adults with Down syndrome. Daily, for 16 weeks, half received memantine pills, the other half a placebo. This fall, Costa will present preliminary results at a scientific meeting in Illinois on whether taking the drug made those with Down, in a word, smarter.

A half-hour from his office and laboratory at the University of Colorado-Denver School of Medicine, where he is an associate professor of medicine and neuroscience, Costa pulled into a parking space in front of his modest two-bedroom apartment. The figure of a girl in green dashed toward the car — and then vanished.

“Tyche,” Costa called to his daughter, “where’d you go?”

We both stepped out to look for her. I found her standing in front of another car, a Subaru Forester, waiting to get in. Dressed in a lime-colored shirt and skirt, the bangs of her mahogany hair framed by a hair band, Tyche stood just 4 feet 6 inches tall, with a round face, broad nose and heavy-lidded eyes.

Seeing my puzzled look, Costa explained that they also owned the Subaru — which he usually drove with Tyche. He led her to the Toyota we’d arrived in, where she sat down in the back seat. As Costa drove us to his office, I asked what she thought of her father’s work.

“He’s the greatest scientist,” she said, in a slurred, high-pitched voice. Then she added with a laugh, “And he builds evil machines.”

“That’s from watching too many cartoons,” Costa said. “Her favorite is ‘Phineas and Ferb.’ Of course, there’s an evil scientist in it who builds all kinds of machines.”

“Like the Smell-inator,” added Tyche, who turned 16 in June.

Back at Costa’s office, Tyche demonstrated to me what people with Down can be capable of even without medication. (Because she’s not an adult, Tyche is ineligible to participate in her father’s study.) On the whiteboard at the front of the room, Costa wrote out an algebra problem for her to solve: 8x2 - 7 = 505.

“She’s one of only two people with Down syndrome who I’ve ever known to be capable of doing algebra,” Costa said. “Normally we give her a problem before she goes to bed.” As she solved the equation, taking six steps to conclude that X equals 8, he said, “It’s basically instead of a bedtime story.” This past Christmas, he proudly noted, he gave her the Rosetta Stone language program for learning Portuguese, and by March she had finished with Level 1 and begun Level 2.

It turns out that with vigorous education and support, many people with Down do far better than once thought possible. Medical care of heart and other physical ailments associated with the disorder have likewise achieved significant benefits, doubling the average lifespan from 25 to 49, in just the 14 years between 1983 and 1997.

Still, with an I.Q. that is typically around 50 points lower than average — with some far lower and others, like Tyche, reaching higher — something more than education alone would be necessary to enable the majority of people with Down syndrome to live independently. Costa said he hopes that memantine might be that something, raising I.Q. noticeably, even if modestly. For him, the goal is to help people with Down syndrome achieve autonomy. “At some point, you want your children to have their own life,” he said. “It’s about independence.”

Costa was raised in Brazil, the son of a marine officer and a seamstress. When he was 14, his parents divorced. His father sent little support, and he and his two siblings lived with their mother in poverty. Perhaps inevitably for someone who had to struggle to rise above his circumstances, he comes across as intense and consumed by his work; he hasn’t taken a vacation since Tyche was 3. But he is also devoted to his daughter and wife, spending most of every weekend with them.

“She’s a great kid,” he said. “She has a very strong personality. In many ways she has features of a regular teenager. She doesn’t like me to get into her bedroom. She loves pop music and vampires.” Her relatively high functioning, he told me, is important to him. “If Tyche were really severely affected, I don’t know if I would have had the energy to go on with this business.” Then again, he admits to having paternal feelings toward all 40 young adults in his study, whose cognitive abilities vary widely. “At the end of the day,” he said, “their parents know someone really cares for their kid. It’s not an academic experience for me. It’s my life.”

In January, and again in March, a spate of news reports described new studies of the noninvasive blood tests that would allow pregnant women to check for Down syndrome without the risks and discomfort associated with chorionic villus sampling and amniocentesis. Few of the articles, however, took note of the profound unease many medical ethicists, including some who are ardently pro-choice, feel about the tests and how they might lead to a dramatic reduction in the Down syndrome population.

“Even people who are traditionally against abortion are sometimes willing to condone it when the abortion is of a fetus with a disabling trait,” says Erik Parens, a bioethicist at the Hastings Center in Garrison, N.Y. “But it’s important to recognize that there is a huge range of genetic disorders. In their own way, a lot of kids with Down syndrome flourish, and so do their families.”

Advocates of the new tests insist that parents will be given news of an affected pregnancy by a trained geneticist who will present the information fairly and fully. Critics, including Costa and many other parents of children with Down syndrome, say that such dispassionate approaches rarely happen in practice, with many obstetricians and genetic counselors providing unduly negative or misleading information.

But Stephen Quake, a professor of bioengineering and applied physics at Stanford and a developer of one of the new tests, says: “It’s a gross oversimplification to assume that these tests are going to lead to the wholesale elimination of Down-syndrome births. My wife’s cousin has Down syndrome. We just celebrated his 21st birthday. He’s a wonderful person. It’s not an obvious step that you would terminate an affected pregnancy.”

But Costa points to a falloff in the financing of Down-syndrome research since the prenatal tests have been in development. Although it’s difficult to compare the numbers, money from the National Institutes of Health dropped to $16 million in 2007 from $23 million in 2003, before creeping back up to $22 million in 2011. That’s far less than the $68 million slated for cystic fibrosis, which affects an estimated 30,000 people in the United States, at most one-tenth of the 300,000 to 400,000 people who have Down.

“The geneticists expect Down syndrome to disappear,” Costa says, “so why fund treatments?”

Alan Guttmacher, director of the National Institute of Child Health and Human Development, denies that this is the calculus used by his organization. Yet he offered no clear answer when I asked him why about $3,000 in research dollars is spent by N.I.H. for every person with cystic fibrosis, compared with less than $100 for every person with Down.

“The number affected is a fair metric to use,” Guttmacher said. But, he pointed out, most of N.I.H.’s funding decisions are based on the strength of proposals coming from researchers. Advocacy groups for disorders like AIDS, autism and breast cancer have certainly played a role in their gaining increased funding, he said. And perhaps, he speculated, Down suffers from an image problem. “Part of it is that Down syndrome has been around for so long,” he said.

Representative Cathy McMorris-Rodgers, Republican of Washington, who co-founded the Congressional Down Syndrome Caucus soon after her 4-year-old son, Cole, was born with the disorder, has had little success in having money appropriated for Down research.

“I find myself wondering how N.I.H. really sets their priorities,” she told me. “I’m quite concerned that so many of the researchers in the Down-syndrome field have difficulty getting funded.” She continued, “My fear is that for some, they believe that it’s been taken care of through prenatal diagnosis.”

Even Costa has struggled to secure financing. He lives with Tyche and Daisy in a rented apartment, having never felt he had enough job security to buy a home. At his laboratory, some of his most expensive and sophisticated equipment for studying Down syndrome remains in storage, literally gathering dust for want of financing to use it. One source of his research money has been the Anna and John J. Sie Foundation, based nearby in Denver, and run by Michelle Sie Whitten, whose 8-year-old daughter has Down syndrome. Three years ago, the foundation established a research institute at the University of Colorado in Denver, where Costa works.

Plainly, though, he didn’t get into Down-syndrome research for the money. “There’s a reason why I’m doing what I’m doing,” he told me, nodding toward Tyche.

Not all parents of children with Down syndrome embrace Costa’s vision of a medical treatment targeting intelligence. In a recent survey conducted in Canada, parents were asked what they would do if there was a “cure” for their child’s Down syndrome. A surprising 27 percent said they would definitely not use it, and another 32 percent said they were unsure.

Meanwhile, the major not-for-profit advocacy groups devoted to Down syndrome spend little on research, instead preferring to lobby and offer parental support. Fresh energy has come from two relatively new groups determined to turn the situation around — Research Down Syndrome and the Down Syndrome Research and Treatment Foundation — but even they have so far succeeded in each raising only about $1 million a year, a fraction of the annual research budgets of many other disease-­advocacy groups.

Behind the ambivalence toward treatments, some parents say, is a fear that increasing their children’s intelligence might change their personalities — their very identities.

“Nobody would be against giving insulin for diabetes,” said Michael Bérubé, director of the Institute for the Arts and Humanities at Pennsylvania State University and author of the 1996 book “Life as We Know It,” published five years after his second son, Jamie, was born with the disorder. “But Down syndrome isn’t diabetes or smallpox or cholera. It’s milder and more variable and more complicated. I’d be very leery of messing with the attributes Jamie has. He’s pretty fabulous. At the same time, I’m not doctrinaire. If you’re talking about a medication that allows people to function in society and hold jobs, how can you be against that?”

The parents I met whose children participated in Costa’s study expressed little of Bérubé’s ambivalence. Peggy Hinkle told me about changes she saw in her 26-year-old daughter. “When Christina was on the pills, she told me one morning about a dream she had. She gave me five full, complete sentences. Which is a very big deal. Not only that, she left the room and came back later and told me another sentence about the dream. And she started to do Jumble word puzzles in the newspaper. I don’t know if she was on the drug or on placebo, but after five weeks there was a change. Boom. That’s why we participated: to expand her horizons.”

For his part, Costa has no doubts about the work to which he has devoted the last 15 years of his life. “If you have a disorder that’s changing the function of an organ, which in this case is the brain, and you use a medication to bring the function of that organ closer to where it was meant to be from millions of years of evolution, that’s as fair as treating any other disease,” he said. “I don’t see it as any different.” If his current study is successful, Costa’s ultimate goal is to test it in youths, like Tyche, during the crucial early years of development. Costa is quick to point out that he has not offered her memantine outside the study, and he discourages other physicians from doing so until its safety and effectiveness is proved. But from his perspective as both a researcher and a father, he said: “The sooner you start, obviously, the greater would be your hopes. All I know is, the clock is ticking.”

Dan Hurley ( is the author of "Diabetes Rising: How a Rare Disease Became a Modern Pandemic, and What to Do About It."

Editor: Ilena Silverman (

This article has been revised to reflect the following correction:

Correction: July 31, 2011

An earlier version of this article misidentified a neurotransmitter that Dr. Costa says is affected by the drug memantine. It is glutamate, not NMDA. That version also misstated, in one instance, Dr. Costa’s surname as Castro.

Country Girl Designs

Friday, August 12, 2011

Survey about Jobs for People with DS by Libby Kumin

 This came through one of the Down Syndrome listservs I'm on and I thought I'd pass the information a long.


Employment/Unemployment/Jobs Survey for People with Down Syndrome Information is being collected by Libby Kumin, Ph.D., CCC-SLP

There is currently no information available on employment and unemployment  status for adults with Down syndrome. There is also no information describing
where people work and the kinds of jobs they do. We all need that information in order to document the current situation and advocate for job training programs,
funding and more variety and choices in jobs.

The purpose of this survey is to begin to collect that information. So, it is important for you to fill out and return this survey whether you are working in paid or
volunteer jobs, not currently working, or are in a training program to prepare you for jobs. The survey is designed for parents/caregivers and their adult children
with Down syndrome, ages 18-50 years old.
Please post the link on list serves and in your newsletters. Send the link to your friends. You can also copy the survey into your newsletters or hand it out in paper copy at meetings and send it back to me by regular mail.

The survey will be online at Survey Monkey from July 20–December 31, 2011. Everyone’s response is important. 

Together we can make a difference!

This is the link for my survey:

Libby Kumin
Loyola University
Dept. of Speech-Language Pathology/Audiology
4501 North Charles Street
Baltimore , MD 21210

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Wednesday, August 10, 2011

{almost} Wordless Wednesday: Dancing Time

One of O's favorite things to do!

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Tuesday, August 9, 2011

More on Bills Introduced by Congresswoman McMorris Rodgers

From Representative Cathy McMorris Rodger's website:

Washington, D.C.– Rep. Cathy McMorris Rodgers (R-WA), Co-Chair of the Congressional Down Syndrome Caucus, introduced two pieces of legislation today to take Down syndrome research to the next level: The Trisomy 21 Research Resource Act of 2011 and the Trisomy 21 Centers of Excellence Act of 2011.  Despite the prevalence of Down syndrome, research for a treatment and cure has lagged behind other medical conditions.  These bills would ensure that Down syndrome research remains on par with the research infrastructure of other diseases.

“As the mom of a child with Down syndrome, I am forever grateful to the people in the disabilities community that welcomed my family with open arms,” said Rep. McMorris Rodgers.  “Through them, I’ve learned about the potential of Down syndrome research – and not just for those who have Down syndrome, but also for those who have other conditions, as well.  Our bill will increase the amount of Down syndrome research and the quality of that research.  And by taking that research to the next level, we may generate breakthroughs for those who suffer from Alzheimer’s, autism, and other neurological disorders.”

Today, nearly 400,000 Americans live with Down syndrome.  In 2000, Congress passed the Children’s Health Act which, among other things, authorized research for a number of conditions including juvenile diabetes, Fragile X, asthma, epilepsy, autism, and traumatic brain injuries.  Down syndrome, however, was not included.

H.R. 2696, the Trisomy 21 Research Resource Act of 2011 authorizes current efforts already underway by national patient advocacy organizations, together with the National Institute of Child Health and Human Development, to establish three research databases that will provide the research community with access to information that has been otherwise hard to obtain.  The second bill, H.R. 2695, the Trisomy 21 Centers of Excellence Act of 2011, recognizes six centers of excellence around the nation that will be dedicated to conducting and coordinating translational research.

Since individuals with Down syndrome are also afflicted with a number of other medical conditions, the enhanced research will not just benefit individuals with Down syndrome, but also millions of others who are afflicted with other conditions.

Country Girl Designs

Monday, August 8, 2011

Film Maker Looking to do Documentary on Teens/Adults with DS

I’ve been contacted by a film maker, Trace Burroughs, who is wanting to do a documentary on teens and adults with Down syndrome. I’ve spoken to Trace in email and also on the phone and offered to help him find people who would be interested in helping him with this project.

Here is a little more information about what the documentary would be about:

I want to do a documentary. The concept being what does the world look like though the point of view or eyes of teens and adults with Down Syndrome.

I have 4 simple to use digital cameras. I would give the participants a camera, several tapes and a month of time and see what they come up with. When they are done they would send the tapes and the cameras back to me. I would give the shooters or  their parents simple instructions on how to use the cameras and basic shooting principles. For each person I would want them to shoot whatever they like (they can't shoot people without them getting release forms) and narrating while they're shooting.

You can contact Trace directly at:

Trace Burroughs
New Paradigm Entertainment
TEL: 203-664-1086 EST

Or, by contacting me and I will get you in touch with Trace!

I thought I would add a little more information here from Trace, in case anyone had any questions:

This documentary is meant to have a positive spin, showing the world the inner sweet soles and perspective of those with down syndrome. Each down syndrome participant will be given a digital camera to shoot what ever they want and they can talk as they film to explain what they are shooting, how they feel about it or whatever. It's pretty open that way. I will provide several 1 hour tapes that they or a parent can put in the camera and I will have simple online instructions on how to work the camera. They can hold onto the camera for a month and shoot when they are inspired.

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Sunday, August 7, 2011

Lawmakers Call For Increased Down Syndrome Research

Thought I would put this up here as an FYI:

August 1, 2011

A set of new bills introduced in Congress would establish first-ever centers for studying Down syndrome and boost research of the chromosomal disorder, a move supporters say will correct a funding inequity.

Since 2000, the Children’s Health Act has specifically authorized research for several conditions including autism, epilepsy, asthma and fragile X syndrome, but not Down syndrome.

Now, two bills introduced late last week by U.S. Rep. Cathy McMorris Rodgers, R-Wash., could change that.

The legislation would allocate $30 million annually for the National Institutes of Health to establish six centers of excellence for Down syndrome research.

Moreover, the federal agency would be required to create and update a Down syndrome research plan every five years and the bills call for the establishment of three research databases.

The move is an effort to help level the playing field when it comes to the allocation of research dollars. Historically, advocates say that funding for Down syndrome has lagged behind that of other conditions.

Last year, the National Institutes of Health tagged $28 million to study Down syndrome, $6 million of which came from economic stimulus efforts.

At the same time, more than three times as much money went toward cystic fibrosis research, even though that condition affects just 30,000 Americans compared to some 400,000 with Down syndrome.

For McMorris Rodgers, increasing the federal focus on Down syndrome has special meaning, as her son Cole, 4, has the developmental disorder.

“I’m quite concerned that so many of the researchers in the Down syndrome field have difficulty getting funded,” McMorris Rodgers told The New York Times in an article published just last week. “My fear is that for some, they believe that it’s been taken care of through prenatal diagnosis.” (note: that's sad, although it is a reality)

It’s unclear when the legislation may be considered in Congress. But the bills do have bipartisan support — a key to getting legislation passed in recent times — with co-sponsors Rep. Chris Van Hollen, D-Md., and Rep. Pete Sessions, R-Texas, on board.

Those backing the bill say some senators have expressed interest in presenting similar legislation before that body, though nothing has been introduced yet.

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Friday, August 5, 2011

A Fix for Keratoconus (an eye problem common in DS)

I thought this was a pretty cool article on how this doctor developed a non-surgical way to fix a degenerative eye disease. Hopefully this will help others who have Keratoconus.

Renowned Beverly Hills ophthalmologist Dr. Brian Boxer Wachler performed his revolutionary non-invasive Holcomb C3-R(R) procedure on John Allen, a 31-year old from Shawnee, Oklahoma. Born partially deaf and with Down syndrome, Allen's vision was failing due to the degenerative eye disease Keratoconus. Though surgical options do exist to correct the disorder, surgeons had been reluctant to operate on Allen due to his pre-existing chromosomal and developmental condition. With Dr. Boxer Wachler's procedure, Allen's Keratoconus will be stopped in its tracks. His story raises awareness for others like him, as a recent study shows the prevalence of Keratoconus in those with Down syndrome to be exponentially higher (5%-15%) than the general population (.05%).

"The world needs to know that people with Down syndrome afflicted with Keratoconus can be treated and now have hope," said Dr. Boxer Wachler. "Due to the disproportionally high number of cases like John's, we hope to show that there is light at the end of the tunnel."

The Holcomb C3-R(R) procedure is a 30-minute outpatient procedure that is designed specifically to treat Keratoconus.

During the treatment, custom-made riboflavin eye drops are applied to the cornea, which are then activated by a special light, ultimately strengthening the weakened cornea. The technique, which Dr. Boxer Wachler has been performing since 2003, was renamed in honor of Olympic four-man bobsledder Steve Holcomb, who had retired from the sport in 2007 when Keratoconus had rendered him legally blind and unable to steer his sled. After Dr. Boxer Wachler's C3-R(R) procedure restored his sight, Holcomb led his four-man team to a gold medal at the 2010 Winter Games in Vancouver and Dr. Boxer Wachler added Holcomb's name to the procedure as a tribute.

The Holcomb C3-R(R) method works by aiding collagen cross-linking, which increases the cornea's mechanical strength, thus preventing the cornea from bulging out and becoming steep and irregular, which is caused by Keratoconus. When indicated patients can elect to combine the Holcomb C3-R(R) treatment with permanent contact lenses called Intacs that help flatten the Keratoconus cone even more, a technique also pioneered by Dr. Boxer Wachler in 1999. In these cases, the Intacs help reverse pre-existent Keratoconus steepening prior to the treatment.

With today's procedure, John Allen is on the road to improved overall quality of life. Allen's mother warmly stated "Dr. Brian Boxer Wachler is an angel sent to help our angel."

To learn more about Keratoconus, Dr. Boxer Wachler or the Holcomb C3-R(R), please visit

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Wednesday, August 3, 2011

Antioxidants & Dementia

A new study came out recently on individuals with Down syndrome who had dementia. The study was looking at antioxidant supplementation to combat dementia. I will paste the study here and comment below it.

Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation.
Lott IT, Doran E, Nguyen VQ, Tournay A, Head E, Gillen DL.
Am J Med Genet A. 2011 Aug.
Department of Pediatrics, School of Medicine, University of California, Irvine (UCI), Orange, California; Department of Neurology, School of Medicine, University of California, Irvine (UCI), Irvine, California.

Individuals with Down syndrome over age 40 years are at risk for developing dementia of the Alzheimer type and have evidence for chronic oxidative stress. There is a paucity of treatment trials for dementia in Down syndrome in comparison to Alzheimer disease in the general (non-Down syndrome) population. This 2-year randomized, double-blind, placebo-controlled trial assessed whether daily oral antioxidant supplementation (900 IU of alpha-tocopherol, 200 mg of ascorbic acid and 600 mg of alpha-lipoic acid) was effective, safe and tolerable for 53 individuals with Down syndrome and dementia. The outcome measures comprised a battery of neuropsychological assessments administered at baseline and every 6 months. Compared to the placebo group, those individuals receiving the antioxidant supplement showed neither an improvement in cognitive functioning nor a stabilization of cognitive decline. Mean plasma levels of alpha-tocopherol increased ∼2-fold in the treatment group and were consistently higher than the placebo group over the treatment period. Pill counts indicated good compliance with the regimen. No serious adverse events attributed to the treatment were noted. We conclude that antioxidant supplementation is safe, though ineffective as a treatment for dementia in individuals with Down syndrome and Alzheimer type dementia. Our findings are similar to studies of antioxidant supplementation in Alzheimer disease in the general population. The feasibility of carrying out a clinical trial for dementia in Down syndrome is demonstrated. © 2011 Wiley-Liss, Inc.

So, this study used 900IU of Vitamin E, 200mg of Vitamin C and 600mg of Alpha-Lipoic Acid (ALA).

First of all, those doses are pretty low, particularly for people who already have dementia. It's very, very late to start treatment, although it could still help.

While this study didn't find any changes in the dementia of these patients, they did find an increase in Vitamin E levels by 2-fold in the treatment group. That, in and of itself, is going to help greatly.

Knowing what we do know about Vitamin E and it's antioxidant effects, if the treatment is started early enough (in childhood), it's very likely to be able to prevent dementia.

I find it quite silly for the conclusion of the study to say that "antioxidant supplementation is safe, though ineffective as a treatment for dementia in individuals with Down syndrome." Well, when you already have people with DS who have dementia, don't ya think it's kind of late in the game to treat it? It's already caused SO much irreversible damage. The "treatment for dementia" should be started a whole lot earlier than that. Early as in the childhood years.

From what I know through other research and in talking with other doctors, especially Dr. Leichtman, antioxidant supplementation, if started early enough can and does prevent dementia.

In reality, it's never too late to start antioxidant supplementation, but the earlier you start it, the better. The less damage that will be done. Damage that can be irreversible.

Dr. Leichtman, has been working with people with Down syndrome of all ages for many, many years now. He has specifically been working with them with nutritional (antioxidant) supplementation. One of his comments in regards to this study is below. It is encouraging for those who have young children who are just starting Nutrivene or an antioxidant program, because it really does work.

In an ideal world where we can get everyone with DS supplemented young, the younger the better. I can document it holds off degeneration for a long time. I still see people who were placed on the old Turkel protocol 30-40 years ago and are now on NVD protocol and none of them have dementia so I know this works.

That's why I encourage any new family to start your child on at least Nutrivene as early as you possibly can. Oxidative stress starts to take hold while the baby is in utero and it only increases from there, if nothing is done about it.

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Monday, August 1, 2011

Nutrivene Formula Changes

International Nutrition made several changes to the Nutrivene-D Daily Supplement a couple months ago. I was going to post up as to what they were sometime ago, but I kept forgetting. So, here we go!

"Addition of Vitamin K2 (as Menaquionone-7) at 100mcg at ful dosage. -Research suggests that Vitamin K promotes cardiovascular health, healthy bones, and cartilage.
Increase in Vitamin D3 to 2000IU at full dosage. -Studies indicate that Vitamin D improves immune function, aids calcium absorption in the gut, promotes modulation of cell growth, and reduces inflammation.
Ingredient source change in Vitamin E from Succinate to Mixed Tocopherols, a more nutritionally complete form of E. - Vitamin E is important for heart health and plays a critical role in protecting cell membranes by neutralizing free radicals.
Removal of Blueberry Extract as possible allergens.
Removal of Curcumin as possible gastrointestinal issue in some individuals."
The removal of  Blueberry Extract is kind of disappointing, as I was glad we didn't need to supplement extra Blueberry because it was already in it. So, that now means that it's time to start supplementing blueberry extract again. We used to do it years ago before Nutrivene had Blueberry in it.

The removal of Curcumin is not that big of a deal, as the full Trisomy 21 Research Foundation Recommended Protocol recommeds using Longvida Curcumin, which is a better, more viable source of Curcumin.

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