Monday, January 11, 2010

Reverse Down Syndrome?

"If I could wave a magic wand and take away my daughter's extra chromosome now, I wouldn't do it," a mom told me while I was pregnant with Ellie.  She told me a lot of great stuff and gave me both hope and comfort.  But . . .

"Wow," I thought at the time.  "I can't even imagine feeling that way. I can't wait 'til I get there!"

I haven't gotten there.  I love Ellie.  I love her with all my heart and soul.  I have learned and grown so much from being her mother and I am glad and proud to be her mom.

But if I could make things easier for her?  If I could wave a magic wand and take away her frustrations because processing information is so hard for her?  I would do that in an instant.  And I believe she'd still be the same sweet, wonderful, giving, generous, special child she is.

Drugs Could Reverse Down Syndrome Symptoms: A newly-found neurotransmitter link to the condition's associated learning disabilities could be targeted.

The learning impairment that characterizes Down syndrome and keeps people with the developmental condition from adapting to new environments could be reversed with a simple drug regimen, a new study suggests.


Cognitive impairment in Down syndrome is the result of a breakdown in the function of the hippocampus. This region of the brain is responsible for contextual learning, or gaining and applying knowledge in real-world situations. Recalling the location of certain items is a prime example.

"Remembering where your keys are isn't just based on navigation," Salehi told Discovery News. "It also includes the sound the keys made when you placed them down and all of the other little bits of information involved."

The hippocampus pulls all of these disparate sensations and awareness of our bodies in relation to our surroundings together to form new memories. When we need our keys again, we draw on these memories to help us find them.

People with Down syndrome may have trouble forming such memories, and Salehi and his team appear to have pinpointed the reason why.


Salehi and his team probed the hippocampi of the mice used in the study and found that the region wasn't functioning correctly due to a lack of the neurotransmitter norepinephrine, a chemical that allows neurons in the hippocampus to form the connections that form contextual memories.

In the study, Salehi and his team found that this dysfunction could be corrected in the mice -- and surprisingly easily. The researchers injected modified mice with a drug that is converted into the norepinephrine within the brain.

Within five hours of injection, the modified mice that previously couldn't learn to fear a tone accompanied by an electric shock could now remember the conditioned response. The modified mice also learned to nest in a novel environment, which is a standard sign of intelligence in the rodents.

After being injected with the drug, L-DOPS, the mice modified to express Down syndrome showed no significant difference from their counterparts in terms of intelligence.

There's lots here that's fascinating. (And I didn't quote the whole article. It's not long, definitely worth a quick click-over-and-read!)  But some of my favorite parts:
  1. The description of brain processing glitches with Trisomy 21
  2. Sucessful animal trials of
  3. A drug that's already widely available and might provide near-instant improvement.

Wow.  I'm looking forward to seeing how this plays out.


KathyR said...

I agree with you completely. My son is 11, and is an amazing young man, but if there was a safe,ethical treatment available to help him learn things more quickly, I would take it in a flash. I have read comments by parents who say that they wouldn't change their children-that they are afraid that a treatment for Ds would change their child's 'essence'.they also say that they love their child unconditionally'...and I wonder, if that is the case, why they are so worried about treating Ds? If love is unconditional, surely it doesn't require that the child have certain characteristics? I love my son very much just as he is right now...but if a treatment was ever found that would help increase his IQ,that would be a good thing for HIM, and I don't think that it would be fair to deny him that opportunity. He would still be the same person-he would just be able to learn more quickly.
If, for whatever reason, a treatment does not work out, my son will still have a good life..he is healthy, happy, active-his brothers and sisters love him and plan to be involved in his life. But a treatment would open more doors to him as an adult than are available to people w/Ds now, so I am very interested in and appreciative of all of the research being done now.

RobMonroe said...

Wow - what a find! I understand the desire to both honor who Ellie has become already, though. Exciting and nerve racking (wracking?) at the same time.

rickismom said...

I couldn't agree more. If I could (safely, ethically) change Ricki's DS for the better, and make life easier for her, I would in a moment. (Ricki is 15.)
And as for those who say they don't want their child to change? I have news for them. TEENS change, sometimes drastically. Mine did, and I love them nevertheless......

Sarahlynn said...

Kathy, such a very good point. In fact, it inspired my next post.

Rob, one of the beauties here is that the treatment - in mice - only works as long as the individual is medicated. The mouse "reverts" to its "normal" when medication stops coming. If the same proves true in humans, a person with DS (or her family in the case of a child) could decide to discontinue the medication at any time.

Rickismom, that's a good point. And raises an interesting question. Lots of parents talk about wanting to keep our kids little forever and worry that they're "growing up too fast." Is a resistance to possible treatment yet another way to attempt to forestall eventual increasing needs for independence and separation?

una said...

understand compleatly what your saying about increasing your childs IQ,I feel the same however i personaly would choose to do it in a natural way like my son is learning another language, I would rather help to improve my childs life naturally with love, support and learning but that is my choice .

Anonymous said...

I agree completely , una. That's why I give my son hugs instead of vaccinations.

Sarahlynn said...

Una, for me this is not about IQ. It's about fixing a chemical imbalance - should such be proven to exist - and helping remove a major frustration in my daughter's life. She's bright. She "gets" that many things are different and harder for her. And when she's older she might decide that she's OK with that. But if I could help her, now, I would do that. Just as I handed her over to surgeons to stop her heart, redesign it, and give her back to me warm and pink and healthy.

I respect each family's right to decide for themselves how to handle this issue.

I also want to make it clear that I, too, "help to improve my child's life naturally with love, support, and learning."

Bingol, you should probably toss in some prayers and vitamins, just as extra insurance.

Anonymous said...

My child doesn't require vitamins, because my smiles are so full of goodness. And instead of eating, he subsists on celestial emanations.

Sarahlynn said...

I was going to suggest a charm bracelet, but I think you've got it covered.

(To be clear to anyone else, I'm not making fun of "love, support, and learning" as strategies for raising a healthy child. But I don't think that medications which correct chemical imbalances or prevent diseases are necessarily "unnatural," either. Because smallpox is natural and so is cancer.)