Wednesday, June 27, 2007
Here is the article:
CHICAGO (AFP) - US researchers have reversed the symptoms of mental retardation and autism in mice by inhibiting an enzyme that affects the connections between brain cells, researchers said Wednesday.
In a series of experiments on mice, the MIT investigators showed that they could undo the brain damage seen in a condition called Fragile X syndrome by inhibiting a key brain chemical called PAK.
In humans, Fragile X syndrome (FXS) is the leading cause of mental retardation and the most common genetic cause of autism -- the complex and devastating developmental disorder that is now being diagnosed in increasing numbers of children.
The study raises the intriguing possibility that the brain damage seen in children with the condition can be rolled back and identifies a specific target for potential drug therapies.
"It opens up a new avenue for drug research to treat this condition," said Susumu Tonegawa, a neuroscientist at the Massachusetts Institute of Technology in Cambridge, Massachusetts, and lead author of the paper.
MIT researchers began by creating a batch of mice that had been genetically modified to have Fragile X, a condition in which the neurons of the brain are structurally abnormal and functionally impaired compared to regular nerve cells.
These transgenic mice had many of the behavioral problems seen in kids with the condition: hyperactivity, attention deficits, repetitive behaviors and poor social skills.
The investigators then cross-bred these mice with another batch of mice that had been genetically modified to inhibit the activity of the PAK (p21-activated kinase) enzyme which is instrumental in shaping the formation of neuronal connections in the brain.
The researchers knew that when PAK was inactivated, the mice developed neurons that had short, fat dendritic spines, with a higher-than-usual capacity for relaying the electrical impulses that pass between brain cells.
In other words, the shape and function of the dendritic spines in the PAK mice was just the reverse of those seen in the brain cells of the mice with Fragile X syndrome.
The researchers gambled that the two abnormalities would cancel each other out, and that's exactly what the experiment showed.
The cross-bred mice had been genetically engineered so that the inactivation of the PAK enzyme began two weeks into the mouse's life cycle, which in human terms would be several years after birth.
Tests and autopsies showed that the PAK-blocking action restored electrical communication between neurons in the brains of the double mutant mice, correcting their behavioral abnormalities in the process.
"This is very exciting because it suggests that PAK inhibitors could be used for therapeutic purposes to reverse already established mental impairments in fragile X children," said Eric Klann, a professor at New York University's Center for Neural Science.
The study was conducted by Tonegawa and a postdoctoral student at MIT's Picower Institute for Learning and Memory and appears in this week's edition of the Proceedings of the National Academy of Sciences.
Jenelle was tested for Fragile X just last December and it came back negative. But this is exciting and encouraging for us. Just thought I'd share this fascinating news.
Thursday, June 21, 2007
Thanks Bennie for capturing what we all feel on so many occasions!
While once again we are left without a real "diagnosis" for Jenelle's issues, we have also ruled out another possibility. We will meet again with UCLA Genetics when we return to see Dr. Shields in August and we'll go from there. At this point, Jenelle has literally been tested for almost everything possible known to the best experts in genetic disorders. We are simply going to have to wait for science to catch up with Jenelle and for a new genetic condition to possibly test for, or for progress from stem cell research and gene therapy. UCLA says they may just keep in touch with us annually, or if a new symptom occurs, or if Jenelle begins to regress. As I've said before, the up side of Jenelle being "undiagnosed" is that her potential remains unlimited. So this is good news.
In other good news - Today marks 2 years since Jenelle's last hospitalization! If you had told me two and a half years ago that we were close to our last hospital stay for a while (knock on wood) I wouldn't have believed you. As Jenelle continues to improve, we can only sit back and enjoy how far she has come!
Last night, our city had its opening night for "Concerts in the Park". These are free, fun events where everyone takes a picnic, some wine, and the kids run free. A year ago, Jenelle could barely sit up at these events.
Last night... she was dancing!
Thanks for the continued thoughts and prayers. I'll keep you posted.
Wednesday, June 20, 2007
This got me thinking – does Jenelle have nightmares? If she were scared in the middle of the night, how would she find me? Because her mind works so differently, does that also mean that she does not understand the concept of fear? Sometimes she cries for no reason and seems comforted by being held. But honestly, until she can talk – we’ll may know. Just another one of those glaring differences between kids like Jenelle and typical kids like Jack.
Sometimes I imagine her mind is much like mine. Intelligent of course, and mature beyond her years. But then when you think of all the aspects of childhood, you have to wonder if she imagines things, or gets scared, or if she is even thinking at all. I wonder if the seizures took that innocence away, or rather that she is blissfully ignorant to the concept.
Summer is in full swing for us as Jack graduated from Kindergarten last week and started summer camp on Monday. He seems to be affected by the change in routine, but for the most part is enjoying summer camp. Jenelle’s school does not let out until the end of July – thankfully only giving them the month of August off. The daycare situation is good for now as Jenelle's daycare provider is thinking about making changes so she can focus more on special needs kids, and keep more children like Jenelle. For now, daycare is secure for August, which was my greatest concern.
Here we are at Jack's graduation. I held back my tears rather well, until his teacher announced a very special guest - the Father of one of Jack's classmates had arrived 2 hours before the ceremony from Kuwait! He was still wearing his desert fatigues, and the journey took him 3 days. That really put things into perspective, and everyone joyfully and tearfully welcomed him home!
I got a message yesterday from UCLA Genetics to call them today, and I am waiting to hear back. Perhaps we will finally have the results of the Rhett Test? I'll keep you posted as soon as I know!
Thursday, June 14, 2007
Jenelle's mobility has really improved. You can tell that she really wants to walk on her own, but she is far from that. Jenelle is getting around the house now by her own form of crawling and/or walking on her knees. Her poor knees are starting to look like elephant knees, and we're looking into some sort of knee pad and/or leggings for protection. She has already worn holes in some of our favorite pants which I've been able to make into shorts - prefect for summer! The other night after putting Jenelle in her room for bed time, I was in our room and noticed out of the corner of my eye a small purple figure coming towards me with a huge smile. I was startled at first then realized it was Jenelle. She is definitely learning her way around the house, and this is problematic at bedtime.
Monday, June 04, 2007
Before the game, Jenelle and I went into Diamond Club (VIP Season Ticket area) with Grandma to snap photos of the parade. At home, when Jenelle was dressed and ready to go, Jack saw her and said, "Mommy, Jenelle is very cute today!" I think all she was missing was pom poms.
After the pre-game parade, we moved down to our seats near the foul pole which were fortunately in the front row of the Terrace Level (in the shade!) It was perfect, and the ushers were very helpful with Jenelle's wheelchair and such. Unfortunately I had to hold Jenelle on my lap like this the entire game (in fact, you can see her determined face fighting me in this photo!) As you know, she is quite giggly wiggly, so my arms felt like they were going to fall off last night after we got home!
A little later in the game when she calmed down, I was able to sit Jenelle in the seat next to me where she held herself up for a good 10 minutes (and gave my sore arms a much needed break!) She is really looking like such a big girl too! A cute little 2 year old sitting behind Jenelle kept grabbing her curl and pulling it down to make it bounce up! It didn't bother her a bit!
Jack and Daddy enjoyed the game, especially Vladimir's walk off home run to win it! Jack actually got cold in our seats in the shade, so Brett took him down to sit in the sun to warm up. After the game, we went to Grandma's to swim and I got to nap in the sun!
So now our Little League season is over - Jack's last game was Saturday. Jack has a new trophy for his room and we can all rest a bit more until next season! I got some good news in that it looks like the Challenger Division for Jenelle may actually happen next year. At the game on Saturday, I spoke to Rex Hudler (former Angels player, now TV announcer) and he was very positive and excited about the new division. I'm sure next season will be here before we know it!
Hope you had a wonderful weekend!