Jenelle was seen by her Metabolic doctor, Dr. Richard Chang, at CHOC on Wednesday and I must say this guy really impresses me! Brett had a client appointment so he couldn't come with me. He was joking with me that morning about how he wouldn't miss having to hear the "there is nothing more we can test for" speech. Boy, was he wrong! This doctor spent over an hour talking to me about Jenelle and various tests results and such. It seems we have a plan, and there are still some tests to be done.
If you recall, we last met with Dr. Chang in January where he ordered many tests on Jenelle including Fragile X, Amino Acids, Carbohydrate Deficiency and another chromosome panel and some other tests. Nine vials of blood and some urine to be exact. All of the results were normal. When I spoke to Dr. Chang in March, he wanted to wait for the Rhett results from UCLA, as well as for copies of Jenelle's medical records from UCLA. Apparently they sent him 3 inches of documents, and he has a lot of reading to catch up on with Jenelle. We discussed her improvement, and some new symptoms and he believes there are more tests we can run. Dr. Chang wants a new MRI, PET Scan and to order another spinal tap. All of the possible tests he mentioned had really strange names, and I honestly can't remember what they were for. One is a new genetic test for a different type of autism found only in girls without speech, and another will test how her body breaks down proteins. That was all I could remember.
We see Dr. Shields in August, and Dr. Chang would like to work with UCLA on the MRI and PET Scan as CHOC does not have the appropriate radiologist needed for the specific test he wants to order. In the meantime, Dr. Chang spoke to our insurance, and all tests have to be approved first, so once again we have to wait. The problem is that our insurance is limiting him to "one test at a time" so that he doesn't incur too much cost to them should he happen to pick a test that actually turns out positive. Interesting theory - but what about all that poking and prodding to Jenelle? Regardless, once we have authorization these tests could take 4 to 6 months to complete, so at least our girl gets a break on the prodding. I like that he is willing to work with UCLA, and that he is so through in his review of Jenelle. I think we've finally found the dedicated metabolic specialist we need to keep trying to find an answer.
Friday, July 27, 2007
Thursday, July 19, 2007
Tuesday, July 17, 2007
She really can be a pest sometimes!
There is no other word for it, but Jenelle has been an absolute bitch this past week/weekend. She's been crabby, cranky, crying inconsolably and just in an out right bitchy mood. If you don't believe me, ask her teacher - she said she'd back me up on that one!
I'm not sure if I mentioned it, but a week before the 4th of July, Jenelle had strep throat. She had a high fever and was crying inconsolably. Life would be so much easier if she could simply point to the part that hurts, or better tell us what was wrong. Instead we go through a process of elimination and eventually to the doctor and/or urgent care. She ended her antibiotic on the 4th of July, and was an absolute doll for the week that followed.
Last Thursday, Jenelle had a half day at school, so she had been at daycare since noon. Around 3:00, her daycare provider called me worried because she had increased seizures and would not stop screaming and crying. In fact, I could hear Jenelle wailing in the background. Our daycare provider has the patience of a saint!
Other than the seizures, Jenelle had been crying like this the two days prior. In fact, I let her cry her self to sleep both nights, because her crying seemed behavioral. Once our daycare provider mentioned seizures, I figured we needed to check her ears and throat. Our doctor was out of the office, so this meant going to urgent care. As soon as we arrived at Urgent Care, Jenelle was happy as a clam. As if she knew we were finally believing her and the doctor would make it all better. I felt guilty writing as our "reason for visit" to be "uncontrollable crying" when she was happy and smiling. No fever, no crying, and five minutes after meeting the doctor, he diagnosed a re-lapse of strep throat and sent us home with a prescription.
And then the guilt sets in. I let her cry herself to sleep when she was in pain! How did I miss that? Probably because she didn't have a fever. Regardless, the guilt was there. At least she is some what on the mend.
My biggest fear for Jenelle is that she may hurt herself internally, and that we wouldn't be able to figure it out. We think Jenelle understands words - perhaps maybe talks in her head, but the words do not vocalize and she cannot sign. Someday we'll figure things out. Hopefully someday soon.
I'm not sure if I mentioned it, but a week before the 4th of July, Jenelle had strep throat. She had a high fever and was crying inconsolably. Life would be so much easier if she could simply point to the part that hurts, or better tell us what was wrong. Instead we go through a process of elimination and eventually to the doctor and/or urgent care. She ended her antibiotic on the 4th of July, and was an absolute doll for the week that followed.
Last Thursday, Jenelle had a half day at school, so she had been at daycare since noon. Around 3:00, her daycare provider called me worried because she had increased seizures and would not stop screaming and crying. In fact, I could hear Jenelle wailing in the background. Our daycare provider has the patience of a saint!
Other than the seizures, Jenelle had been crying like this the two days prior. In fact, I let her cry her self to sleep both nights, because her crying seemed behavioral. Once our daycare provider mentioned seizures, I figured we needed to check her ears and throat. Our doctor was out of the office, so this meant going to urgent care. As soon as we arrived at Urgent Care, Jenelle was happy as a clam. As if she knew we were finally believing her and the doctor would make it all better. I felt guilty writing as our "reason for visit" to be "uncontrollable crying" when she was happy and smiling. No fever, no crying, and five minutes after meeting the doctor, he diagnosed a re-lapse of strep throat and sent us home with a prescription.
And then the guilt sets in. I let her cry herself to sleep when she was in pain! How did I miss that? Probably because she didn't have a fever. Regardless, the guilt was there. At least she is some what on the mend.
My biggest fear for Jenelle is that she may hurt herself internally, and that we wouldn't be able to figure it out. We think Jenelle understands words - perhaps maybe talks in her head, but the words do not vocalize and she cannot sign. Someday we'll figure things out. Hopefully someday soon.
Saturday, July 07, 2007
Yummy Watermelon & Jenelle update!
Jenelle had a few appointments this week, so I have some new information to update you about. Last Friday, I took Jenelle to Mission Orthotics to be fitted for new AFOs (ankle foot orthotics). Yes, her shoe size has changed yet again! Prior to this appointment, I spoke to Jenelle's physical therapist to ask her if she wanted to make any changes to Jenelle's AFOs. She gave me her pager number and told me to have the man who does the casting to give her a call. Prior to having the casts made, I spoke to the "orthotic" guy (not sure what he is called) and explained that Jenelle was really mobile these days. I then put Jenelle on the floor to give him an idea of what I was talking about, and he was encouraged and thinks she is very close to walking! The good news is that because Jenelle has mastered "standing", she can now advance to the next type of AFO, which would provide more movement of the ankle to help her walk easier! He was going to contact our PT to give her his opinion, and will call us when the new AFOs arrive! Should be exciting!
Monday, Jenelle had an appointment with her G.I. doctor. Jenelle continues to grow and gain weight (bummer for me on the lifting) and is now 41 pounds! Jenelle is now in the 75th percentile for weight! This is amazing for a child that once fell off the weight chart prior to getting her g-tube. The doctor was so pleased, she said she only needs to see Jenelle once a year now to continue monitoring her growth. This is great news for us - one less appointment to keep! Jenelle's feeding by mouth hasn't improved much for us so it looks like the feeding tube will be with us for a while. Speaking of feeding issues, Jenelle took some interest in watermelon on the 4th of July and actually took a couple of bites. Luckily Brett got a great photo, so I can share it with you.
We hope you had a wonderful 4th of July holiday. Ours was enjoyable and Jenelle really seemed to enjoy watching the fireworks. Afterward she was so tired, she was asleep by the time we got home! Thank you for the continued prayers and positive thoughts - I'll keep you posted on anything new!
Monday, Jenelle had an appointment with her G.I. doctor. Jenelle continues to grow and gain weight (bummer for me on the lifting) and is now 41 pounds! Jenelle is now in the 75th percentile for weight! This is amazing for a child that once fell off the weight chart prior to getting her g-tube. The doctor was so pleased, she said she only needs to see Jenelle once a year now to continue monitoring her growth. This is great news for us - one less appointment to keep! Jenelle's feeding by mouth hasn't improved much for us so it looks like the feeding tube will be with us for a while. Speaking of feeding issues, Jenelle took some interest in watermelon on the 4th of July and actually took a couple of bites. Luckily Brett got a great photo, so I can share it with you.
We hope you had a wonderful 4th of July holiday. Ours was enjoyable and Jenelle really seemed to enjoy watching the fireworks. Afterward she was so tired, she was asleep by the time we got home! Thank you for the continued prayers and positive thoughts - I'll keep you posted on anything new!
Wednesday, June 27, 2007
Scientists have reversed autism symptoms in mice!
I just read this article on Yahoo news and found it to be fascinating. While the headline emphasizes "autism" in reading the actual article, it sounds more like the symptoms of "mental retardation" than autism. This is hopeful for us - wasn't I just saying last week that we were waiting for science to catch up with Jenelle? Looks like it won't be long.
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.
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
Days like this...
I read this post of Bennie's yesterday and was so moved by its accuracy of the every day lives we live as parents of special needs kids. I thought of it last night and again this morning as I mixed Jenelle's drugs with my pestle. If you haven't read this, you really should! Click here.
Thanks Bennie for capturing what we all feel on so many occasions!
Thanks Bennie for capturing what we all feel on so many occasions!
Genetic Test Results from UCLA
I received a call from UCLA today and they had the results of the genetic testing for the Atypical Rhett Syndrome gene for Jenelle. Remember, this is from our blood draw on January 3? The test results were negative, meaning that Jenelle does not have the atypical form of Rhett Syndrome. We have already ruled out the typical form of Rhett Syndrome, so safely we can rule out Rhett Syndrome completely.
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.
Thanks for the continued thoughts and prayers. I'll keep you posted.
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.
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