Tuesday, April 29, 2008
Plan B
I came across the story of the Smith Family through another blog. I'm really not sure how I found it, except that I must have been blog jumping. Anyway, they have a very important message to share. Recently Cross Point Church in Nashville, Tennessee put together a video and played it for their congregation. I hope you will take some time to watch it here at the Without Wax Blog. This couple has an amazing story. It is awe inspiring faithfulness to HIM. While I do not begin to imagine the depth of their feelings, there were so many things rang familiar in my heart. It was an awesome reminder that HE knows our story long before it unfolds in front of us. It is an awesome reminder to have faith that while circumstances may be rough sometimes or not what we had planned, that HE is walking with us, HE is as faithful to us as we should be to HIM. I know that I have been changed by this story and by the words that were shared here. I will blog more about this when some of you who want to check it out have had a chance. Believe me, it is a well spent 22 minutes and I think many of you will feel changed and renewed after it.
Monday, April 28, 2008
110,263
Thanks for all the safe miles! So much has happened since I bought you! I've gotten married, had a baby, quit my job and had another baby. While you were a great car, that got me from point A to point B efficiently and with good gas mileage our family no longer fits in you . As a matter of fact, if we kept you, we'd probably get hired on by the local circus as the clown family in the clown car. As much as I'm going to miss you, the first car I bought brand new, the first car I bought without a co-signer it's time for you to go to its second home. I know you are going to see lots more miles and be well taken car of. Please take good care of your new passenger like you took care of me!
Sunday, April 27, 2008
This is why your donations are so important!
This article gives so many families of children with Angelman Syndrome so much hope. To even imagine that someday I might hear my beautiful boy say "I Love You Mommy and Daddy" or even just "Hello!" The money that we raise through the walk-a-thon funds research like this. It gives all of us more hope. Also, to know that it may not be a developmental problem but a biochemical issue makes me believe that treatment may not be that far off. What an amazing miracle that would be!
The original article can be found in the Spectrum Magazine here.
A "Long Shot" Pays Off
Grandmother’s Alzheimer’s leads scientist to a major breakthrough in Angelman Syndrome
By Elizabeth McBreen
As a research scientist, Edwin Weeber, Ph.D., never thought he would be in a position to receive fan mail. Weeber, who is currently an Associate Professor at the University of Southern Florida (USF), has spent his graduate and post-graduate career conducting research on Angelman syndrome (AS). After 10 years of research and testing, he has discovered how to reverse the deficits of the disorder in mice.
Angelman syndrome, first discovered in 1965 by an English doctor, Harry Angelman, is a disorder that causes severe developmental delays, impedes speech and motor coordination. Other symptoms such as seizures and microcephaly affect about 80 percent of patients, according to the Angelman Syndrome Foundation Web site (www.angelman.org). Not evident at birth, AS is generally diagnosed after the age of 3 years. Relatively rare, AS affects between 1 in 15,000 and 1 in 30,000 people, and it is common for patients to exhibit some of the same earmarks as autism. These can include hand flapping and a short attention span. Although the two disorders can present similar symptoms, Weeber says that AS is considered more severe in nature.
Weeber started out as a graduate student studying microbiology at Baylor College of Medicine in Texas. Because his grandmother was suffering from Alzheimer’s at the time, he was drawn to research of the brain, specifically learning and cognitive ability. Weeber began working with David Sweatt, Ph.D., who was conducting cognitive studies in his lab. While working in Sweatt’s lab, Weeber became particularly interested in the hippocampus, a part of the brain that plays a role in memory. Down the hall from Sweatt’s lab, another researcher was studying AS in mice models. “Angelman syndrome is a maternal imprinted disorder and there are no expressions of it in some parts of the brain – one of these is the hippocampus. So instead of studying random things in the hippocampus, I decided to study Angelman syndrome,” says Weeber.
Prior to Weeber’s studies, most of the research that had been conducted on AS had been genetic. The gene that carries the disorder was identified in 1997. Abnormal function in this gene, UBE3A, had been targeted as a possible cause for the disorder. UBE3A is a gene that is imprinted on the brain, meaning that the body knows what part of the gene is maternal and what part is paternal. “We get half of all of our genes from our mother and half from our father. The deletion or mutation of the mother’s gene causes AS,” says Weeber. Interested in the biomedical aspects of the disorder, he began studying enzymes and proteins in the brain that work with this gene. Weeber would make his groundbreaking discovery while working in his own lab at Vanderbilt University.
As he worked with his mice models from Baylor, Weeber discovered that he could reverse the effects of AS by regulating a particular enzyme, CaMKII. CaMKII is “an enzyme that is essential for learning and memory, as well as normal motor learning. We found that one of the biological abnormalities in AS mice was reduced CaMKII activity. It was known that reduced CaMKII activity results in neurological deficits. Thus, we concluded that regulating CaMKII in the mice may reverse their neurological deficits,” says Weeber. When Weeber tested his theory by crossing mice with AS and mice with a mutation that caused them to retain their CaMKII activity, the resulting offspring had no AS symptoms. The seizure activity, mental retardation and problems with motor coordination all disappeared in the mice models. These results caused Weeber to conclude that the deletion or mutation of the maternal part of the UBE3A gene caused reduced CaMKII activity, resulting in AS.
Weeber says that when the activity of CaMKII enzyme is regulated, the deletion of the maternal part of the UBE3A gene is corrected. He adds that this enzyme is not produced until after the mice are born. This may also be the case in humans. Weeber says that this conclusion is an important when it comes to the treatment of AS. “This suggests that AS is not developmental in nature, but rather biochemcial. In other words, the brain appears to be wired correctly, but the change in CaMKII activity prevents the proper communication between the neurons in the areas of the brain where maternal UBE3A imprinting occurs.”
Six months ago, Weeber, his wife and their son moved to Florida. The couple has since welcomed a new daughter to the family, and Weeber has taken the position as Associate Professor at USF. Weeber and his wife, who has a Ph.D. in neuroscience, feel that a move to USF is a natural progression because the school is known for its work in cognitive studies. At USF, Weeber will pursue therapeutic approaches for AS patients. The results found in Weeber’s mice models were obtained through genetic engineering, and so this method is not applicable to humans. He says that one of the approaches for treating AS in humans could be a pharmacological one that would modulate CaMKII. Another possibility is adeno-associated virus (AAV). Weeber explains that this is a method for introducing foreign genes in neurons of the central nervous system. AAV can be used to either introduce CaMKII with the same mutation that was used to rescue the AS mice, or introduce a UBE3A gene that would take the place of the deleted or mutated maternal UBE3A gene. Weeber plans to begin researching the use of AAV to treat AS in the next six months.
While Weeber’s discovery has many positive implications for AS patients, it could also be good news for people with autism. He says that while AS patients and autistic people look very different, there are genetic similarities. “Future research may in fact find a relationship between changes in UBE3A and autism,” says Weeber. Other disorders having to do with cognitive function may also benefit from his research. For now, parents of AS children are celebrating Weeber’s work. Terry Jo Bichell is a Visiting Scholar at Vanderbilt Kennedy Center for Research on Human Development and the mother of a nine-year-old boy with AS. Bichell took a position at Vanderbilt not long after Weeber’s article was published. “I suddenly realized that concentrating on a cure for AS was not a pie-in-the sky day dream, but a real possibility,” says Bichell. “Now it feels like the answer lies just beyond a flimsy curtain. It is almost in sight.”
For more of this article please subscribe to Spectrum today
Again, thank you so much for your support of Little J. Donations still can be made at Little J's fundraising page.
The original article can be found in the Spectrum Magazine here.
A "Long Shot" Pays Off
Grandmother’s Alzheimer’s leads scientist to a major breakthrough in Angelman Syndrome
By Elizabeth McBreen
As a research scientist, Edwin Weeber, Ph.D., never thought he would be in a position to receive fan mail. Weeber, who is currently an Associate Professor at the University of Southern Florida (USF), has spent his graduate and post-graduate career conducting research on Angelman syndrome (AS). After 10 years of research and testing, he has discovered how to reverse the deficits of the disorder in mice.
Angelman syndrome, first discovered in 1965 by an English doctor, Harry Angelman, is a disorder that causes severe developmental delays, impedes speech and motor coordination. Other symptoms such as seizures and microcephaly affect about 80 percent of patients, according to the Angelman Syndrome Foundation Web site (www.angelman.org). Not evident at birth, AS is generally diagnosed after the age of 3 years. Relatively rare, AS affects between 1 in 15,000 and 1 in 30,000 people, and it is common for patients to exhibit some of the same earmarks as autism. These can include hand flapping and a short attention span. Although the two disorders can present similar symptoms, Weeber says that AS is considered more severe in nature.
Weeber started out as a graduate student studying microbiology at Baylor College of Medicine in Texas. Because his grandmother was suffering from Alzheimer’s at the time, he was drawn to research of the brain, specifically learning and cognitive ability. Weeber began working with David Sweatt, Ph.D., who was conducting cognitive studies in his lab. While working in Sweatt’s lab, Weeber became particularly interested in the hippocampus, a part of the brain that plays a role in memory. Down the hall from Sweatt’s lab, another researcher was studying AS in mice models. “Angelman syndrome is a maternal imprinted disorder and there are no expressions of it in some parts of the brain – one of these is the hippocampus. So instead of studying random things in the hippocampus, I decided to study Angelman syndrome,” says Weeber.
Prior to Weeber’s studies, most of the research that had been conducted on AS had been genetic. The gene that carries the disorder was identified in 1997. Abnormal function in this gene, UBE3A, had been targeted as a possible cause for the disorder. UBE3A is a gene that is imprinted on the brain, meaning that the body knows what part of the gene is maternal and what part is paternal. “We get half of all of our genes from our mother and half from our father. The deletion or mutation of the mother’s gene causes AS,” says Weeber. Interested in the biomedical aspects of the disorder, he began studying enzymes and proteins in the brain that work with this gene. Weeber would make his groundbreaking discovery while working in his own lab at Vanderbilt University.
As he worked with his mice models from Baylor, Weeber discovered that he could reverse the effects of AS by regulating a particular enzyme, CaMKII. CaMKII is “an enzyme that is essential for learning and memory, as well as normal motor learning. We found that one of the biological abnormalities in AS mice was reduced CaMKII activity. It was known that reduced CaMKII activity results in neurological deficits. Thus, we concluded that regulating CaMKII in the mice may reverse their neurological deficits,” says Weeber. When Weeber tested his theory by crossing mice with AS and mice with a mutation that caused them to retain their CaMKII activity, the resulting offspring had no AS symptoms. The seizure activity, mental retardation and problems with motor coordination all disappeared in the mice models. These results caused Weeber to conclude that the deletion or mutation of the maternal part of the UBE3A gene caused reduced CaMKII activity, resulting in AS.
Weeber says that when the activity of CaMKII enzyme is regulated, the deletion of the maternal part of the UBE3A gene is corrected. He adds that this enzyme is not produced until after the mice are born. This may also be the case in humans. Weeber says that this conclusion is an important when it comes to the treatment of AS. “This suggests that AS is not developmental in nature, but rather biochemcial. In other words, the brain appears to be wired correctly, but the change in CaMKII activity prevents the proper communication between the neurons in the areas of the brain where maternal UBE3A imprinting occurs.”
Six months ago, Weeber, his wife and their son moved to Florida. The couple has since welcomed a new daughter to the family, and Weeber has taken the position as Associate Professor at USF. Weeber and his wife, who has a Ph.D. in neuroscience, feel that a move to USF is a natural progression because the school is known for its work in cognitive studies. At USF, Weeber will pursue therapeutic approaches for AS patients. The results found in Weeber’s mice models were obtained through genetic engineering, and so this method is not applicable to humans. He says that one of the approaches for treating AS in humans could be a pharmacological one that would modulate CaMKII. Another possibility is adeno-associated virus (AAV). Weeber explains that this is a method for introducing foreign genes in neurons of the central nervous system. AAV can be used to either introduce CaMKII with the same mutation that was used to rescue the AS mice, or introduce a UBE3A gene that would take the place of the deleted or mutated maternal UBE3A gene. Weeber plans to begin researching the use of AAV to treat AS in the next six months.
While Weeber’s discovery has many positive implications for AS patients, it could also be good news for people with autism. He says that while AS patients and autistic people look very different, there are genetic similarities. “Future research may in fact find a relationship between changes in UBE3A and autism,” says Weeber. Other disorders having to do with cognitive function may also benefit from his research. For now, parents of AS children are celebrating Weeber’s work. Terry Jo Bichell is a Visiting Scholar at Vanderbilt Kennedy Center for Research on Human Development and the mother of a nine-year-old boy with AS. Bichell took a position at Vanderbilt not long after Weeber’s article was published. “I suddenly realized that concentrating on a cure for AS was not a pie-in-the sky day dream, but a real possibility,” says Bichell. “Now it feels like the answer lies just beyond a flimsy curtain. It is almost in sight.”
For more of this article please subscribe to Spectrum today
Again, thank you so much for your support of Little J. Donations still can be made at Little J's fundraising page.
Saturday, April 26, 2008
A Princess Freak Out!
Since we're talking about the Adventures of a Pitiful Princess, I thought now was a good time to share what cartoon freaks this little princess out and which will stop her from crying on a dime.
This cartoon will have Princess J screaming in fear, as if Jack the Ripper has entered the room. This show on Noggin Oobi must be turned off immediately. Princess J freaks out every time they appear on the television screan.
This Cartoon, Yo! Gabba! Gabba! will stop the tears instantly. It will also generally make her feel better when she's sick. This, somehow does not freak her out. I must admit that the first time I watched it with Little J I was a little freaked out, but DJ Lance Rocks, Foofa, Muno, Brobee, Tutti and Plex have grown on me. Kind of funny that Biz Markie has found new uses of his beat boxing skills on this program occasionally as well.
This cartoon will have Princess J screaming in fear, as if Jack the Ripper has entered the room. This show on Noggin Oobi must be turned off immediately. Princess J freaks out every time they appear on the television screan.
This Cartoon, Yo! Gabba! Gabba! will stop the tears instantly. It will also generally make her feel better when she's sick. This, somehow does not freak her out. I must admit that the first time I watched it with Little J I was a little freaked out, but DJ Lance Rocks, Foofa, Muno, Brobee, Tutti and Plex have grown on me. Kind of funny that Biz Markie has found new uses of his beat boxing skills on this program occasionally as well.
Friday, April 25, 2008
The Adventures of a Pitiful Princess.....
Our poor Princess J had a horrible night last night......of course she did, because mommy had some scrapping plans on Friday! Anyway, Princess J spiked a fever at about 7pm of 101. again. We gaver her some tylenol and she ate and drank her bottle and fell asleep. This poor little girl was up every 45 minutes to an hour all night! She was just miserable. Her fever came down and hovered in the 99 to 100.3 range until morning, but nothing would console this wee little one. I felt so bad for her, all she wanted to do was get comfortable and sleep, but it was just not happening. When she finally gave up trying to sleep and decided she might as well watch cartoons, she just looked miserable. Her poor little eyes were all watery, her nose was just drenched in snot and she's got bags packed under her eyes that could hold every outfit she owns (and that's a lot, if you hadn't guessed). You might think looking at this photo that she's smiling, but she's not. That is here melodramatic look for....."Look Lady, that's not whatI want, you don't have what I want, so until you have what I want, leave me the freak alone (as she uses her hand to shove whatever item or person is in it's wake out of the way)!
We took her to the pediatrician, this morning and there is no ear infection, no strep throat....and no magic pill to make her all better! She finally slept for an 1 1/2 hours this morning, but has been grumpy (I would be too) all day long. I got everything set to go to my scrap night, set Daddy up with all the kids food put together and ready to go, Little J's medications and suppliments and headed out to have a little girl time. About 2 hours in, G calls me, and Princess J is not happy and had spit out part of her motrin. I felt so bad, that he was having a rough time, and that Princess J was so unhappy, that I just had to come home. When I got home, G had just changed her and we let her walk around in her walker for about 15 minutes. She drank her milk (and then in a perfect world, this is where she would fall asleep) and she wanted to go in her play pen. She has this routine in her play pen, that if she's thinking about being tired and napping, she will start getting all the toys out by throwing them out of the play pen. Tonight, she decided she didn't want the toys in there and started handing them to me to put away. One by one, all of the toys were removed in this manner. Poor thing kept laying down trying to get comfortable, but it was not working. Mommy walking around holding her was not working, mommy rocking her was not working, laying her in our bed propped up (so the snot wouldn't block her nose) was not working, daddy trying to cuddle her was not working..............so, I resorted to the one thing I never thought I would do.......I loaded this kid up in her car seat and drove her around. When I first put her in the seat, she was screaming like a banshee, but once we got moving I think she was asleep before we hit the stop sign that exits our neighborhood. I drove about 5 miles in a perfect square through town and (knocking on wood right now) Princess J has been asleep for 2 1/2 hours in her carseat! She's squeeked a few times, but gotten right back to sleep. Let's hope this keeps up and she sleeps through for a few more hours at least. Sleep is, what I think she needs most to feel better.
On another note: I really want to thank everyone for their wonderful support of our family after the letter I posted about Little J the other day. So many people have generously donated to support him in the walk-a-thon. To each and every one of you, I am so grateful! If you didn't get a chance to read the letter, you can find it HERE.
If you would like to make a donation to support Little J in the walk-a-thon you can do so at Firstgiving-Team Punkypants. I guess I'll have to tell you how the nickname Punkypants came along someday too........
If you would like to make a donation to support Little J in the walk-a-thon you can do so at Firstgiving-Team Punkypants. I guess I'll have to tell you how the nickname Punkypants came along someday too........
Okay, time for this tired mommy to try and get some rest.....
Thursday, April 24, 2008
Pitiful Princess
In case you cannot tell by the photo, Princess J is not having a good day. Poor little thing is sick with a terrible cold! I knew yesterday she was going to be sick later in the evening, because while we were having Starbucks with my aunt, she wanted nothing to do with her snacks and she was throwing a major temper tantrum! When this little one does not feel good, she makes sure that everyone and I mean everyone knows about it. Last night we took her temperature before dinner and it was at 101.3. We gave her some tylenol and she slept in her own room until about 11:30pm. After that she came to sleep in her playpen in mommy and daddy's room. At about 3 am she woke up very cranky, I gave her some more tylenol and then decided I would change her as well. When I took off her blanket sleeper, poor little one had sweated through the front of her jammies (she sleeps on her tummy). We got her all changed and took her temperature, it was back up to 101.0 and this was about 1/2 hour after the tylenol. Thank goodness for Nick Jr. On Demand! She layed in bed with mommy and we watched 2 episodes of Yo! Gabba! Gabba!, she gave mommy a fat lip and then she went back to sleep. I don't think she really wanted to get up this morning, but we had to take brother to school. Once she was in her car seat, she was asleep again until almost 11 am. She's kept her temperature down this afternoon, but that poor little nose is running in overdrive. She's still miserable. It breaks my heart to see this sad little pouty face.
Sunday, April 20, 2008
Walking to Raise Awareness for Angelman Syndrome
Dear Friends and Family,
As many of you know on May 1st 2006, our beautiful son Litte J was diagnosed with Angelman Syndrome. For those of you who don't know, Angelman Syndrome is a rare neurologically based genetic disorder. It is believed to occur in 1 in every 15,000 to 20,000 births. It is often misdiagnosed as Autism, Cerebral Palsy or other childhood disorders. There are a few diferent causes of this disorder. The type that Joshua has in simplistic terms is that there is a small portion of his 15th chromosome missing. This is the most common type of this disorder with 70% of children having it in this manner. This type is also generally not hereditary. With Princess J, although we had her tested, we had a 1% risk of her having it. The same as any other pregnancy in anyone. Some challenges faced by patients with Angelman Syndrome are developmental delay, profound speech impairment, movement and balance disorder, ataxia, short attention span, hyperactivity, sleep disturbance, and siezures. Little J has many of these symptoms, but not all of them. One symptom that many of the patients with AS have is a very happy demeanor. Little J definately has this! Thank goodness!
While this was not the journey we had planned for our family, we are so blessed to have Little J. His challenges make for a lot of work and effort on his and our part, but he is such a sweet joy to have around. He never ceases to amaze us with his progress, his abilities, and his determination to accomplish things. Currently Little J sees many amazing professionals to help with his care and progress. We cannot begin to thank these people enough. Dr. H. has been a godsend to us since Little J's birth and diagnosis. Her support and care for Little J and her direction to amazing other support professionals has been wonderful. She has directed us to others with great knowledge of Angelman Syndrome, and who are strong advocates for Little J and his needs.
Two years later, things are so different for us now. Little J is still the same amazing boy, but making so much more progress everyday. Today, we don't feel as devistated by his diagnosis, but blessed. This doesn't mean that days are not hard, or that some days we don't have a mini pity party for ourselves, or wish that he didn't have Angelman Syndrome, but we know in the grand scheme of things we are very blessed and lucky to have this little boy. He is an absolute joy to be around. We have never seen this kid wake up on the wrong side of the crib. If you need a smile, a hug or a big wet kiss, he has one for you. Little J makes friends with everyone anytime we go to the grocery store...or anywhere else for that matter.
Little J has made much progress in the last year. He started school in December and loves it. He loves being around and interacting with the other children in his class. He is showing much progress in his physical capabilities. His therapists think he is well on his way to walking, it's just going to take a little more confidence and body awareness, but we are working on this daily. Little J has a high receptive vocabulary and definately understands what he's hearing. He is working on communication skills and will be evaluated for an augmented communication device soon. Simple tasks like turning on a light switch and such require much thought and concentration on his part, but he is doing it!
The reason I am writing you today, is on May 17th our family will be participating in the Angelman Syndrome walk-a-thon. The purpose of this walk is to raise awareness for Angelman Syndrome and to raise money for the Angelman Syndrome Foundation (ASF) which provides support for families as well as funding for research programs. Little J is currently participating in two studies at UC San Diego funded by the ASF. He is participating in a natural history study as well as a vitamin suppliment study. With awareness and money being raised, we hope to someday find a cure or treatment for those affected by this rare and not so well known syndrome. We are hoping that you will be able to support us in this endeavor. If you would like to donate, you can either go to Little J's walk-a-thon page and make an online donation or you can contact us to send a check. Your donation is tax deductable too!
We would also welcome anyone who would like to attend the walk with us. We have created Little J's team Team Punkypants and anyone who loves and supports Little J is welcome! Contact me for details.
We thank you in advance for your support.
Take Care,
Laurie, G, Little J and Princess J
As many of you know on May 1st 2006, our beautiful son Litte J was diagnosed with Angelman Syndrome. For those of you who don't know, Angelman Syndrome is a rare neurologically based genetic disorder. It is believed to occur in 1 in every 15,000 to 20,000 births. It is often misdiagnosed as Autism, Cerebral Palsy or other childhood disorders. There are a few diferent causes of this disorder. The type that Joshua has in simplistic terms is that there is a small portion of his 15th chromosome missing. This is the most common type of this disorder with 70% of children having it in this manner. This type is also generally not hereditary. With Princess J, although we had her tested, we had a 1% risk of her having it. The same as any other pregnancy in anyone. Some challenges faced by patients with Angelman Syndrome are developmental delay, profound speech impairment, movement and balance disorder, ataxia, short attention span, hyperactivity, sleep disturbance, and siezures. Little J has many of these symptoms, but not all of them. One symptom that many of the patients with AS have is a very happy demeanor. Little J definately has this! Thank goodness!
While this was not the journey we had planned for our family, we are so blessed to have Little J. His challenges make for a lot of work and effort on his and our part, but he is such a sweet joy to have around. He never ceases to amaze us with his progress, his abilities, and his determination to accomplish things. Currently Little J sees many amazing professionals to help with his care and progress. We cannot begin to thank these people enough. Dr. H. has been a godsend to us since Little J's birth and diagnosis. Her support and care for Little J and her direction to amazing other support professionals has been wonderful. She has directed us to others with great knowledge of Angelman Syndrome, and who are strong advocates for Little J and his needs.
Two years later, things are so different for us now. Little J is still the same amazing boy, but making so much more progress everyday. Today, we don't feel as devistated by his diagnosis, but blessed. This doesn't mean that days are not hard, or that some days we don't have a mini pity party for ourselves, or wish that he didn't have Angelman Syndrome, but we know in the grand scheme of things we are very blessed and lucky to have this little boy. He is an absolute joy to be around. We have never seen this kid wake up on the wrong side of the crib. If you need a smile, a hug or a big wet kiss, he has one for you. Little J makes friends with everyone anytime we go to the grocery store...or anywhere else for that matter.
Little J has made much progress in the last year. He started school in December and loves it. He loves being around and interacting with the other children in his class. He is showing much progress in his physical capabilities. His therapists think he is well on his way to walking, it's just going to take a little more confidence and body awareness, but we are working on this daily. Little J has a high receptive vocabulary and definately understands what he's hearing. He is working on communication skills and will be evaluated for an augmented communication device soon. Simple tasks like turning on a light switch and such require much thought and concentration on his part, but he is doing it!
The reason I am writing you today, is on May 17th our family will be participating in the Angelman Syndrome walk-a-thon. The purpose of this walk is to raise awareness for Angelman Syndrome and to raise money for the Angelman Syndrome Foundation (ASF) which provides support for families as well as funding for research programs. Little J is currently participating in two studies at UC San Diego funded by the ASF. He is participating in a natural history study as well as a vitamin suppliment study. With awareness and money being raised, we hope to someday find a cure or treatment for those affected by this rare and not so well known syndrome. We are hoping that you will be able to support us in this endeavor. If you would like to donate, you can either go to Little J's walk-a-thon page and make an online donation or you can contact us to send a check. Your donation is tax deductable too!
We would also welcome anyone who would like to attend the walk with us. We have created Little J's team Team Punkypants and anyone who loves and supports Little J is welcome! Contact me for details.
We thank you in advance for your support.
Take Care,
Laurie, G, Little J and Princess J
Thursday, April 17, 2008
Please Pray!
Today I received the heartbreaking news that fellow Angel Ashley Williams has passed away. She was rushed to the hospital in Birmingham Alabama on Sunday after choking on a peanut butter sandwich. She went into cardiac and respitory arrest. She was on life support until last night when the family removed it. Please pray for Ashley's family in the days and weeks ahead that they might be comforted.
As a mommy, I cannot even begin to imagine losing a child, my heart is just breaking for them.
As a mommy, I cannot even begin to imagine losing a child, my heart is just breaking for them.
Tuesday, April 15, 2008
Let's Go to the Park (and Happy Tax Day)!
Since Little J was a school this morning, and we are not scrambling to get our taxes done, we decided to take Princess J and check out a park that we've never been to before. Since it was about midway between our house and Little J's school, we headed over there about an hour before we had to pick him up. If you can't tell from the photos, she loved the swings! We didn't stay very long, because it was a small park and about 15 minutes after we got there it started filling up and it was a little chilly. I think she got plenty of playtime though, because as soon as we pulled away from the curb she was sound asleep.
Monday, April 14, 2008
Toddler Choices in the News....
I bet you didn't know you had to decide which gang your toddler will belong to did you? Seriously, I cannot believe this! I was directed to this link from
Renee's Blog
Here is the story:
COMMERCE CITY, Colo. -- A couple fighting about which gang their 4-year-old toddler should join caused a public disturbance that resulted in the father's arrest, Commerce City police said Thursday.
On Saturday, Joseph Manzanares stormed into the Hollywood Video store where his girlfriend worked, threatened to kill her and knocked over several video displays and even a computer, Commerce City police Sgt. Joe Sandoval said.
After he ran out of the store, police were called and the 19-year-old was arrested at his home.
His girlfriend told police that they had been arguing about the upbringing of their son and which gang he should belong to. The teen mother, who is black, is a member of the Crips. Manzanares is Hispanic and belongs to the Westside Ballers gang, the woman said.
"They have different ideas on how the baby should be raised. Basically, she said they cannot agree on which gang the baby would 'claim,'" Sandoval said.
Manzanares was charged with disorderly conduct, harassment, and domestic violence. He was transported to the Adams County Detention Facility.
On Tuesday, he pleaded guilty to disorderly conduct and was sentenced to a year of probation. The misdemeanor harassment charge was dropped.
See original story here.
I too am at a loss for words.....
Renee's Blog
Here is the story:
COMMERCE CITY, Colo. -- A couple fighting about which gang their 4-year-old toddler should join caused a public disturbance that resulted in the father's arrest, Commerce City police said Thursday.
On Saturday, Joseph Manzanares stormed into the Hollywood Video store where his girlfriend worked, threatened to kill her and knocked over several video displays and even a computer, Commerce City police Sgt. Joe Sandoval said.
After he ran out of the store, police were called and the 19-year-old was arrested at his home.
His girlfriend told police that they had been arguing about the upbringing of their son and which gang he should belong to. The teen mother, who is black, is a member of the Crips. Manzanares is Hispanic and belongs to the Westside Ballers gang, the woman said.
"They have different ideas on how the baby should be raised. Basically, she said they cannot agree on which gang the baby would 'claim,'" Sandoval said.
Manzanares was charged with disorderly conduct, harassment, and domestic violence. He was transported to the Adams County Detention Facility.
On Tuesday, he pleaded guilty to disorderly conduct and was sentenced to a year of probation. The misdemeanor harassment charge was dropped.
See original story here.
I too am at a loss for words.....
Sunday, April 13, 2008
Scrapbooking Gone to Wrong
Scrapbooking saleswoman linked to $170K in thefts
Karen McGates, 47, appears in a Washington County courtroom Tuesday. She is charged with stealing $170,000 worth of scrapbooking supplies.
By Thanh Tan and KATU Web Staff
HILLSBORO, Ore. – A Beaverton woman was arraigned Tuesday on charges she stole $170,000 worth of scrapbooking materials from craft stores and sold them from her home business.
Karen Sue McGates, 47, pleaded not guilty in Washington County court to charges of racketeering, first-degree theft and tampering with evidence.
She was licensed to run All About Scrapbooking & More from her home on Southwest Lisa Lane.
Beaverton police allege she and another woman accumulated a house full of illegal supplies during the course of about a year, between February 2007 and this month.
Police allege that both women made numerous visits to craft stores, where they would pay for a few dollars-worth of merchandise but leave with their purses stuffed full of stolen items, such as paper, scissors and stamps.
They mainly targeted Craft Warehouse stores in the Portland metro area but also hit Jo-Ann Fabrics and Michaels stores, police said.
The alleged accomplice is cooperating with police in the investigation and has not yet been named or charged.
McGates was arrested on Feb. 1 following an investigation into the thefts.
Wednesday, April 09, 2008
Crazy Silly Milestones can be SCARY!
This little boy is very mischevious! Today he mastered a new skill....almost to my horror though. Imagine a crazy busy day (ok, many of you mommy's out there don't have to imagine). You are driving along making good time to get to an appointment and you think you might actually arrive a few minutes early! Yay! You look back to check on your big kid in the back seat and notice that his passenger door is slightly ajar! OMG! We didn't close the door all the way. You try to remain calm as you slowly pull over to the side of the road (thanking God that your child is strapped into his car seat and hasn't figured out how to undo those straps and that you are not on the freeway). Your mother-in-law, who you are quietly thinking in your head didn't close the door all the way, gets out of the car and securly closes the door. As she's settling back in to her seat, your 3 year old reaches over and just opens the car door! Sure enough! Little J has mastered the art of opening the car door. As we started on our way again (now destined to be late) with the door locked, Little J continued to try and reopen the door. Thank goodness he hasn't mastered unlocking the car door! New car routine in effect now.........
1. Little ones strapped safely in car seats.-check
2. LOCK CAR DOORS! -check......you get the point now right! :D
I am so proud of this little munchkin! Always paying attention, always trying something new and always suprising us by showing off his new skills at sometimes not the safest moment. We took this photo a few weeks ago, but I love the fun "here comes trouble" look on his face!
Sunday, April 06, 2008
Ken Lee - Bulgarian Idol (WITH ENGLISH TRANSLATION)
I just don't know what to say except "tulibo dibu douchoo's...".
Reposted since the last one is no longer available.
Friday, April 04, 2008
Ken Lee - Bulgarian Idol (WITH ENGLISH TRANSLATION)
I just don't know what to say except "tulibo dibu douchoo's...".
Tuesday, April 01, 2008
Learning to Ride A Bike and A New Kind of Talent!
Little J is learning to ride a bike! He loves it so much! We are going to work on adapting a bike for him at home too. He is just full of smiles (as usual) and giggles while riding around so proud of himself! Love it!
Something new Princess J has decided to do! Two binkies at one time while singing! :D
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