Well glory hallelujah!

Why can't I make a nest?

Yesterday I wrote about coming advancements in the possibility of medical intervention to overcome the disabling effects of Down syndrome in the brain.  This was in the context of a promise to a family with a newborn with Downs.

Little did I realize...

In today's Wall Street Journal there is an article on page A3 entitled "New Attack on Alzheimer's."  It reports the success researchers at Case Western Reserve have had in reversing--not preventing--reversing advanced Alzheimer's in mice bred to develop the disease.

So? You may ask.  Mice are not men and Alzheimer's is not Down syndrome.

Very true, but what works in a mouse often works in a man, and--something not generally known--all people with Down syndrome develop Alzheimer's if they live long enough.

So you see, we parents of children with Down syndrome have only a few years to relax between the shock of our kids' birth and the anxiety of advancing age and what it almost surely will bring for those we have grown to love with all our hearts.

And it comes on 20 years earlier than in the normal population.

There is a "substance of interest" implicated in all this, as the detectives might say, which is well known to researchers.  Its name is beta-amyloid, which everybody has in their brain, which is not a good thing.  However, the healthy brain has a clean-up crew that routinely keeps the beta-amyloid in check.

The Alzheimer's brain, and very likely the brain on Down syndrome, fails to do that.

Good news:  a drug called bexarotene, generally used for skin cancer treatment, reversed the symptoms of Alzheimer's in mice within 72 hours.  Mice with Alzheimers were unable to engage in normal mouse behavior like creating a nest out of paper scraps left in their enclosure.

After beginning treatment with this drug the mice began to make nests. 

Pretty stunning results, but not the first.  Several years ago researchers were able to normalize mice with a substance.  After treatment, mice with Down syndrome who couldn't run a maze for their dinner were suddenly able to do so.  However, the substance used is highly toxic to humans and not a candidate for our species.

Still the evidence is clearer all the time.  It can be done.  And bexarotene is safe for use in humans.

On February 14, Dr. Michael Harpold, Executive Director of the Down Syndrome Foundation for Research and Treatment, will visit Down Home Ranch.   Wednesday the 15th, he, Jerry and I, and others will tour Dr. Jon Pierce-Shimomura's Down syndrome research lab at the University of Texas.  Then we'll have a brain-storming session afterwards.

I'm champing at the bit to talk over these new developments with Jon, who works with tiny nematodes instead of mice. 

Disclaimer:  I am not a scientist and this post reflects only my best understanding of what I have been able to glean.  Please check out original souces by clicking on links.

The Clock is Ticking



Dr. Jon Pierce-Shimomura has a big bet on a tiny worm

 Sometimes Jerry and I feel a bit like Forrest Gump. You know, winding up at the right place at the right time in our lives against pretty unlikely odds. I’ll tell you why.

Last night Jerry and I attended an astonishing event, put on by the Rise School of Austin and the Down Syndrome Association of Central Texas.

Lots of other parents of kids with Down syndrome were there, too, to hear Professor Jon Pierce-Shimomura, Assistant Professor of Neurobiology at UT/Texas, fill us in on his current research and provide an overview of current research into Down syndrome.

Dr. Jerome Lejuene discovered the extra copy of chromosome #21 that characterizes typical Down syndrome in 1959. Finding the extra chromosome was huge, but even Dr. Lejeune did not hold out much hope for figuring out why and how it wreaks such developmental havoc, saying at the time "it would take less effort to find a cure for [Down syndrome] than to send a man to the moon."

That's because, whereas conditions like cystic fibrosis may be caused by one gene, Down syndrome is caused by an entire chromosome packed with genes. Finding which one(s) cause the intellectual disability and physical characteristics of Down syndrome is not a simple task.

And not one many researchers bother with. As Dr. Pierce-Shimomura says, "If you were a researcher, would you rather investigate one gene, or 350?"

In the good professor's case, the answer to this question is easy. His name is Ocean Pierce-Shimomura, he's a bright busy ten-year-old, and he has Down syndrome.

And the Forrest Gump part? Well, in 1984, when our Kelly was five weeks old, I attended the 13th annual convention of the National Down Syndrome Congress in San Antonio. The speaker there was Jerome Lejuene. I had just gotten Kelly’s karyotype (which Dr. Lejuene developed) and it showed she had not one but two extra copies of the 21st chromosome. I was beside myself with worry.

But Dr. Lejuene calmed me down, saying he was certain she would not be doubly handicapped and would probably develop much as she would have with only one. And she has, having turned into a delightfully poised, well-mannered young woman of 27.

Then on the last day of the 2007 NDSC conference in Kansas City, Jerry and I attended the session of Dr. William Mobley, then of Stanford University, who presented exciting news and real hope for medical intervention in the disabling conditions that affect children and adults with Down syndrome.

Then next year Jerry and I went to Yosemite on vacation, and while riding bikes through the park he said, “I think we should go visit Bill Mobley. Let’s drive down to Palo Alto on Thursday.”

“O good Lord,” I said, “he’s an internationally recognized scientist. We can’t expect to just waltz onto the campus and find him and he’ll see us!”

(I should have known better, having been married to this guy for almost 40 years.)

So Thursday we find a parking place and the general area of campus where the lab was located. Who saunters by on that fine fall morning but Bill Mobley? A conversation ensued, a promise to come to Texas was extracted, information was exchanged, and we parted, my husband a satisfied man.

Several months later, Down Home Ranch, the Rise School, and DSACT presented an evening with William Mobley at the UT Ex-Student Center. We combined our mailing lists and invited everyone we could think of.

In the audience that evening was a brand-new assistant professor of bioscience, Dr. Jon Pierce-Shimomura. Someone introduced him to Dr. Mobley, who chose to present him to the audience as a researcher in the field of Down syndrome research.

Jon, actually having been brought to UT to undertake research on alcohol, didn’t know what to say, so he said nothing. One thing led to another, in part because of relationships created that night, and…who knows, post hypnotic suggestion, perhaps…as of today Jon directs the research of a$3M laboratory under a grant from the National Institutes of Health. His research swapping out genes in a tiny, simple worm (with whom we share a large preponderance of the same genetic material, humbling though that be) feeds into research on more complex creatures, suggesting which genes might prove better bets to test. (The worms go from infancy through middle age into senescence in 7 days.)

Even though funding for Down syndrome across the board is miserably low compared to many other conditions, real progress is being made. Let’s never forget: Ten years after Dr. Lejuene's comment, we did send a man to the moon.

There is real hope for our kids— for the older ones, that they’ll avoid the ravages of Alzheimer’s and retain their hard-won accomplishments as they age.

And for the little ones, well…them we’ll send to college.

Meanwhile, the clock is ticking. Go to the following link: ww.dsrtf.org/ to learn how to support Down syndrome research, and don’t think it won’t make a difference.

It will.