Sunday, March 09, 2008
Owen Sitting Up in His Play Pen
We moved Owen's play pen into Nate's room in case there is an emergency with Nate and I'm home by myself I can just throw Owen in there and know he's safe!Friday, February 22, 2008
Owen Sitting Up in the Tub
Owen will be six months old tomorrow!!! Wow, how the time flies! He's such a big boy - 23.6 pounds and wearing 18 mo clothes! I'm going to have my hands full when he starts crawling and walking! But I'm so excited and can't wait to watch him develop.Nathan is doing good. He's had some ups and downs with his head and nasal congestion. Struggles at times and then does great. But, he's not truly sick. Praise the Lord! Really, it's a miracle he's remained healthy this season with all that's going around. But, we still have a couple of months to go until we're "in the clear" and out of sick season. I can't wait! I'm ready to get him out of the house!
We have hired a sitter company to come in once or twice a week to help with Owen. It will be a big help so I can get out of the house (my usual Walmart run once a week and maybe to play tennis), but most importantly, I can spend time with Nathan and do things with him. When getting Nate up in his stander, to drive his power chair, to go out of the house, anything like that, he requires my sole attention, so having someone watch Owen will help me with that.
Thanks for checking in!
Jennifer
Tuesday, February 19, 2008
A Step Forward...
Potential method for repairing misspelling in DNA code that causes spinal muscular atrophy
Medical Research News
Published: Tuesday, 12-Feb-2008
Researchers at the University of Delaware have discovered a novel technique - that acts like a "spell-checker" for correcting a misspelling in the DNA code - to repair the defective gene that causes spinal muscular atrophy (SMA).
This hereditary neuromuscular disease is the number-one genetic killer of children under two years old.
Babies born with Type 1 SMA, the most severe form of the disease, can't walk, crawl, sit unsupported, lift their heads, or breathe normally. Fifty percent die before their second birthday.
The research is published in the Jan. 14 online edition of Experimental Cell Research. The study was supported by $477,500 in National Tobacco Settlement funds to the state of Delaware. The research grant was awarded through the Delaware Health Fund.
"Think of it like a spell-check program--we're erasing the wrong letter in the DNA code and putting the right one in," said Eric Kmiec, professor of biological sciences at UD.
Kmiec, who holds 14 patents for gene-editing technologies at the University, collaborated with research scientist Darlise DiMatteo and undergraduate Stephanie Callahan on the discovery in his laboratory at the Delaware Biotechnology Institute.
The technique has shown promising results in tests in mice and is now poised for development by OrphageniX Inc., based in Wilmington, Del. The start-up company was incorporated in 2005 to commercialize UD-patented technologies for repairing genes that cause rare, hereditary, "orphan" diseases, so named because they have not been "adopted" by the pharmaceutical industry for the development of treatments.
According to the Families of Spinal Muscular Atrophy, an international, nonprofit organization, the disease affects one in 6,000 babies born, and one in 40 people is a genetic carrier.
A genetic 'bandage'
Spinal muscular atrophy is caused by a mutation in the SMN1 gene, which affects the motor neurons, the nerve cells in the spinal cord that control the muscles of the rib cage and limbs, which are essential for breathing, swallowing, sitting and walking.
Each gene is made up of a length of DNA, a code composed of the four chemical units that make up the genetic alphabet: A for adenine, G for guanine, C for cytosine and T for thymine.
In spinal muscular atrophy, a defect occurs in the SMN1 gene. There's a letter out of place--a T (thymine) occurs where there should be a C (cytosine). As a result, the gene doesn't make a protein that the motor nerves in the spinal cord need to survive, which leads to the gradual atrophy, or wasting, of the muscles.
To replace the function of the defective SMN1 gene, the UD research team used a gene in the human body that is nearly an exact copy (SMN2). Then they introduced a small fragment of this healthy gene's DNA--a genetic "bandage" referred to as an oligonucleotide--into a diseased cell, triggering the cell to heal itself.
Tests of the technique in mice with spinal muscular atrophy, conducted by Jackson Laboratory in Bar Harbor, Maine, showed "very promising results" with the development of healthy muscle in the animals, Kmiec said.
"Babies with SMA die early in life," Kmiec noted. "But if we can deliver the healing agent to the appropriate cell, we can help address this horrible disease. We're not looking at a cure, but we hope this technique could lead to a series of treatments that could alleviate the symptoms and improve the quality of life of patients," Kmiec said.
The technique, known as targeted gene alteration (TGA), is among a group of UD-patented technologies under development by OrphageniX, a pre-clinical development stage biotechnology company that has moved quickly out of the starting gate since its launch in February 2007.
"OrphageniX plans to develop a treatment for spinal muscular atrophy with help from expert consultants in the field," Michael Herr, chief executive officer, said.
The development of a treatment for SMA would advance to clinical testing within a year from funding by either investors or commercial collaborators, Herr noted.
Patients with the less severe, Type III form of spinal muscular atrophy would be targeted for initial human trials. Although individuals with Type III SMA suffer from a range of muscle weakness and fatigue quickly, the disease generally is not life-threatening at this stage.
Herr said that OrphageniX is committed to helping people by commercializing scientific breakthroughs, but he noted that, "we must also provide an adequate return to investors for OrphageniX to succeed."
Truly translational research
For his latest research to be truly "translational," extending from the lab bench to the bedside, Kmiec said it has been critical to involve people like Darlise DiMatteo, who have a keen understanding of spinal muscular atrophy.
DiMatteo, who joined Kmiec's research team a year ago, formerly worked at Nemours Alfred I. duPont Hospital for Children, where she conducted research studies of muscular dystrophy and SMA for more than a decade. The world-renowned children's hospital continues to be an important partner on the project, Kmiec said.
"We've received significant assistance from Drs. Vicky Funanage and Wenlan Wang at A. I. duPont Hospital," Kmiec noted. "They would be a natural choice for clinical trials in SMA."
"I love coming to work knowing that this research could make a difference for families affected by this disease," DiMatteo said. "It's intriguing--why does a deficit in this particular protein cause this disease? And why do humans have an SMN2 gene that's almost identical to SMN1 when animals don't have that kind of backup? The effort will have been worth it if we can help find the answers."
The research also has had a profound effect on Stephanie Callahan, an undergraduate student at UD who helped carry out the laboratory experiments, working under DiMatteo's guidance.
Callahan had the opportunity to participate in the project through a summer internship in the IDeA Network of Biomedical Research Excellence (INBRE) program offered by the Delaware Biotechnology Institute when she was a student at Delaware Technical and Community College. Now she's finishing up her degree in biological sciences with a concentration in biotechnology and wants to pursue her master's degree at UD. After completing her education, she hopes to get a job doing research in industry, perhaps at a pharmaceutical company.
"It really opened my eyes to the possibilities and the potential applications of what you can do in the lab," Callahan said. "It's been a great experience for me."
Kmiec said the research so far has all the elements of a "real Delaware story"--connecting UD, A. I. duPont Hospital for Children, tobacco settlement funding awarded by the state, and a start-up company fueled by Delaware investors--and he's excited about the future.
"Publishing an article in a research journal is not the accomplishment--that is what some of us are paid to do, and my colleagues do this as well as I," Kmiec said. "But the fact that the research program is translational and is working in that direction with outside validation and support is the real news. I hope our experience will help UD and other researchers like us realize their technology possibilities," he added.
Medical Research News
Published: Tuesday, 12-Feb-2008
Researchers at the University of Delaware have discovered a novel technique - that acts like a "spell-checker" for correcting a misspelling in the DNA code - to repair the defective gene that causes spinal muscular atrophy (SMA).
This hereditary neuromuscular disease is the number-one genetic killer of children under two years old.
Babies born with Type 1 SMA, the most severe form of the disease, can't walk, crawl, sit unsupported, lift their heads, or breathe normally. Fifty percent die before their second birthday.
The research is published in the Jan. 14 online edition of Experimental Cell Research. The study was supported by $477,500 in National Tobacco Settlement funds to the state of Delaware. The research grant was awarded through the Delaware Health Fund.
"Think of it like a spell-check program--we're erasing the wrong letter in the DNA code and putting the right one in," said Eric Kmiec, professor of biological sciences at UD.
Kmiec, who holds 14 patents for gene-editing technologies at the University, collaborated with research scientist Darlise DiMatteo and undergraduate Stephanie Callahan on the discovery in his laboratory at the Delaware Biotechnology Institute.
The technique has shown promising results in tests in mice and is now poised for development by OrphageniX Inc., based in Wilmington, Del. The start-up company was incorporated in 2005 to commercialize UD-patented technologies for repairing genes that cause rare, hereditary, "orphan" diseases, so named because they have not been "adopted" by the pharmaceutical industry for the development of treatments.
According to the Families of Spinal Muscular Atrophy, an international, nonprofit organization, the disease affects one in 6,000 babies born, and one in 40 people is a genetic carrier.
A genetic 'bandage'
Spinal muscular atrophy is caused by a mutation in the SMN1 gene, which affects the motor neurons, the nerve cells in the spinal cord that control the muscles of the rib cage and limbs, which are essential for breathing, swallowing, sitting and walking.
Each gene is made up of a length of DNA, a code composed of the four chemical units that make up the genetic alphabet: A for adenine, G for guanine, C for cytosine and T for thymine.
In spinal muscular atrophy, a defect occurs in the SMN1 gene. There's a letter out of place--a T (thymine) occurs where there should be a C (cytosine). As a result, the gene doesn't make a protein that the motor nerves in the spinal cord need to survive, which leads to the gradual atrophy, or wasting, of the muscles.
To replace the function of the defective SMN1 gene, the UD research team used a gene in the human body that is nearly an exact copy (SMN2). Then they introduced a small fragment of this healthy gene's DNA--a genetic "bandage" referred to as an oligonucleotide--into a diseased cell, triggering the cell to heal itself.
Tests of the technique in mice with spinal muscular atrophy, conducted by Jackson Laboratory in Bar Harbor, Maine, showed "very promising results" with the development of healthy muscle in the animals, Kmiec said.
"Babies with SMA die early in life," Kmiec noted. "But if we can deliver the healing agent to the appropriate cell, we can help address this horrible disease. We're not looking at a cure, but we hope this technique could lead to a series of treatments that could alleviate the symptoms and improve the quality of life of patients," Kmiec said.
The technique, known as targeted gene alteration (TGA), is among a group of UD-patented technologies under development by OrphageniX, a pre-clinical development stage biotechnology company that has moved quickly out of the starting gate since its launch in February 2007.
"OrphageniX plans to develop a treatment for spinal muscular atrophy with help from expert consultants in the field," Michael Herr, chief executive officer, said.
The development of a treatment for SMA would advance to clinical testing within a year from funding by either investors or commercial collaborators, Herr noted.
Patients with the less severe, Type III form of spinal muscular atrophy would be targeted for initial human trials. Although individuals with Type III SMA suffer from a range of muscle weakness and fatigue quickly, the disease generally is not life-threatening at this stage.
Herr said that OrphageniX is committed to helping people by commercializing scientific breakthroughs, but he noted that, "we must also provide an adequate return to investors for OrphageniX to succeed."
Truly translational research
For his latest research to be truly "translational," extending from the lab bench to the bedside, Kmiec said it has been critical to involve people like Darlise DiMatteo, who have a keen understanding of spinal muscular atrophy.
DiMatteo, who joined Kmiec's research team a year ago, formerly worked at Nemours Alfred I. duPont Hospital for Children, where she conducted research studies of muscular dystrophy and SMA for more than a decade. The world-renowned children's hospital continues to be an important partner on the project, Kmiec said.
"We've received significant assistance from Drs. Vicky Funanage and Wenlan Wang at A. I. duPont Hospital," Kmiec noted. "They would be a natural choice for clinical trials in SMA."
"I love coming to work knowing that this research could make a difference for families affected by this disease," DiMatteo said. "It's intriguing--why does a deficit in this particular protein cause this disease? And why do humans have an SMN2 gene that's almost identical to SMN1 when animals don't have that kind of backup? The effort will have been worth it if we can help find the answers."
The research also has had a profound effect on Stephanie Callahan, an undergraduate student at UD who helped carry out the laboratory experiments, working under DiMatteo's guidance.
Callahan had the opportunity to participate in the project through a summer internship in the IDeA Network of Biomedical Research Excellence (INBRE) program offered by the Delaware Biotechnology Institute when she was a student at Delaware Technical and Community College. Now she's finishing up her degree in biological sciences with a concentration in biotechnology and wants to pursue her master's degree at UD. After completing her education, she hopes to get a job doing research in industry, perhaps at a pharmaceutical company.
"It really opened my eyes to the possibilities and the potential applications of what you can do in the lab," Callahan said. "It's been a great experience for me."
Kmiec said the research so far has all the elements of a "real Delaware story"--connecting UD, A. I. duPont Hospital for Children, tobacco settlement funding awarded by the state, and a start-up company fueled by Delaware investors--and he's excited about the future.
"Publishing an article in a research journal is not the accomplishment--that is what some of us are paid to do, and my colleagues do this as well as I," Kmiec said. "But the fact that the research program is translational and is working in that direction with outside validation and support is the real news. I hope our experience will help UD and other researchers like us realize their technology possibilities," he added.
"What we've discovered--this gene spell-check--sounds very simple, where you erase one letter and put the right one in," Kmiec noted, "but finding the pathway has taken a long time, since 1994. Now, with this latest development, we've taken a laser shot out of the primordial soup. It's a chance finally to make a difference for families with this disease."
Saturday, February 16, 2008
Nate With His New Quilt From The Charity "Cole's Quilts"
This quilt is absolutely BEAUTIFUL and so special! It came from Cole's Quilts, a charity for SMA children. People from all over the US and Canada needlepoint squares for these quilts (each square is from a different person). And, it has all the things Nate loves - Spongebob, Blue's Clues, and his very favorite Veggie Tales! We will hang it on his wall so he can look at it every day. Thanks again to Cole's Quilts!
Tuesday, February 12, 2008
Tuesday, January 29, 2008
Just Another Update (and some pictures - of course!)
Cold, warm, snow, cold, rain, warm. We can't figure out what the weather is doing here in Tulsa!! Nathan is doing pretty good. We had a scare last week with his leg. The strap from the sling for the lift got caught on a part in his stander and pulled on his leg pretty badly. It was swollen and he cried and cried, even if you acted like you were going to touch it. We had an x-ray taken and, fortunately, no break! But we had to keep him in bed for two days to let it heal. It was hard just to turn him, poor guy! It seems to be doing much better the last few days and he's able to get up without any pain or problem. Now, however, he's fighting a sinus thing. We don't think it's an infection because he hasn't really run a high fever on a consistent basis. His lungs sound fine, just lots of secretions coming from the head and scabbing in the nose. We are being extra cautious right now as far as getting him out of the house and having people over. Our nurses, therapists, teachers - everybody - has been sick with one thing or another. LOTS of SMA kiddos have been sick and, unfortunately, a few have passed away. We continue to pray for all of the SMA children and their families as well. For healing and a CURE! I never thought I would be so scared of germs or getting sick, but it could be a matter of life and death for Nathan. So being OVERLY cautious is something that has become a part of our daily life. Thankfully, Nathan has made it this far into "Sick Season" without a major illness so we're keeping our fingers crossed he can make it to Spring. And then we'll go crazy with fun! Needless to say, we haven't made it to the Veggie Tales movie yet since I want to make sure he has absolutely no problems before we take him out in public.
Although we aren't getting out much, Nathan is very busy. We are still meeting with our physical therapist and the rep from Majors Medical Supply to get his power chair completely adjusted. We are hoping to meet with the speech therapist again soon about 1) the eye gaze communication device and 2) using some switches for his computer games (which he already does sometimes). He doesn't seem that interested in the computer stuff with switches - maybe he just needs some guidance and tweaking as far as the right kind of switch to use??? The teacher is still coming once a week and he loves these sessions! There will be a rep coming by either this week or next about a portable lift, which we need desperately. The ceiling lift in his room can only get him into/out of the tub, his stander, his Kid Kart and his Power Chair. We need a portable lift to take him out in the living room to lay on the floor or on the couch and to go outside to get into his swing or the pool. He's gotten way too big for us to try and lift him!
We had our meeting/tour of the PICU at St. Francis Hospital and it went very well. The PICU Clinical Manager showed us around, introduced us to some respiratory therapists, nurses, doctors and answered/asked us lots of questions. We got a good feeling about it and she said they would definitely listen to us as far as Nathan's care. Of course, until Nathan is actually hospitalized (which we hope never happens again!), we won't really know the level of care and exactly how things operate. Regardless, it really helped ease our minds and at least we know what we will be walking into. Becky, the PICU Clinical Manager, was also very helpful and said she would make sure she would assist us in any way she can with the concerns we have about Nate's care. On Sat., Feb. 2nd, Trey and I will be attending a Community Tour for the brand new PICU, which is part of the new Children's Hospital at St. Francis. We were told the rooms are huge with a bed and bathroom in each room and it is much more "parent friendly". That all sounds great, but our main concern is Nathan's medical care and luckily, we feel much better about that also.
Here's a few pics. A couple of Owen where he actually looks small (only because he's in a big chair) and a couple of Nate (one with his Vest on).
Thanks for checking in !
Jennifer
Sunday, January 20, 2008
Our Smiling, Always Happy Nathan
This pic really shows off his two front teeth! To get a bigger view, just click on the picture to enlarge.
Friday, January 18, 2008
Some recent pics of Owen and some other stuff....
Here's some recent pics of Owen. He's growing so fast! There's a few pictures of him eating rice cereal and applesauce today. We started him on solids yesterday and he seems to really enjoy them. The stroller Owen is in was in the attic and we had practically forgotten that we had it for Nathan. Nate never did use it because he could never sit up that straight. Owen seems to like it, but of course, he's almost too big for it!
Owen is making new sounds and getting very LOUD! The sounds I love the most (not really) are of him shrieking at the top of his lungs - it's ear piercing! We're not used to this either, as Nathan always had a soft cry and soft voice.
Speaking of, Nathan is doing great!!!! He's also making new sounds. He's using his lips and mouth more and making b, t, d, and h sounds along with his "a" sounds. We have faith that he will talk some day, he wants to so bad!! But even with hope and faith of him verbally communicating, we are looking into a communication device that Nate will use with his eye movement. It is so cool...the technology today is amazing!
He went to see Dr. Cyrus last Tuesday and got a good report. But, he also got five shots and his legs are just now looking better. Poor little guy! Since we switched doctors, Nate will also change hospitals. Trey and I will be meeting with the Manager of the St. Francis PICU on Monday to do a tour, meet the nurses, ask and answer questions. In case of any hospitalization, we want to be prepared and know what to expect.
Nate was doing great in his power chair, but now it's too cold to drive outside. We'll try and get him up this weekend and drive in the house or maybe the garage. We plan on going to the new Veggie Tales movie next week and will let you know how he liked it!
Thanks for checking in!
Jennifer
Saturday, January 05, 2008
Driving my Power Chair!
Nate's new Power Chair was FINALLY delivered on Friday so he went driving this afternoon! It has been forever since he drove but after about 10 minutes or so, he seemed to get the hang of it again. He looks so much better and more comfortable in this chair than in the other one. This one has an "Adult" base so he can continue to use it as he grows plus it can accomodate a Vent Tray to hold his BiPAP and batteries (something the other one could not have). Since he has become much more BiPAP dependent, the Vent Tray is a "must-have". Enjoy a few pictures...
Tuesday, January 01, 2008
Owen in the tub
Owen is practically sitting up already! He just needs a little help. He does crunches all day long trying to sit up and gets frustrated when he can't do it. He's so funny!
He had his four month check up last week and he's 20 pounds and 27 3/4 inches long! ABSOLUTELY HUGE! He got a great report and is doing well! What a blessing!
Nate at the Bass Pro Shop
Yesterday we took Nate to the Bass Pro Shop for a day outing. What a cool place! Nate had a blast!
Wednesday, December 26, 2007
Merry Christmas!
The boys had a great Christmas! They got lots of presents and we had company since last Thursday - the boys always love attention! We all had a lot of fun!
Many prayers go out to Nathan's friend, Kyle Gundy, who also has SMA Type 1. He is in the hospital battling RSV, but seems to be on the mend! Poor guy was in the hospital for Christmas, but at least he is getting better and surrounded by his loved ones! And I hear Santa visited him TWICE! Not bad Kyle! Hope you get home soon!
Okay, get ready for pictures overload!
Many prayers go out to Nathan's friend, Kyle Gundy, who also has SMA Type 1. He is in the hospital battling RSV, but seems to be on the mend! Poor guy was in the hospital for Christmas, but at least he is getting better and surrounded by his loved ones! And I hear Santa visited him TWICE! Not bad Kyle! Hope you get home soon!
Okay, get ready for pictures overload!
Monday, December 17, 2007
Early Christmas Present for Nate
We bought Nate a new TV. It's a 23 inch LCD. His old Tv was 13 inches, so quite a difference! We couldn't wait until Christmas to set it up, so Nate received an early Christmas present and he LOVES it! He would barely turn his head away from the TV and smiled the whole time. Here's a couple pics of him watching Veggie Tales last night.
Owen also got an early Christmas present. Well, sort-of. His was used and a hand-me-down! We got Nate's megasaucer down from the attic for Owen to play in. As you can tell from the pictures, he really liked it! Unfortunately, Nate never really got to play in this because we got it before we knew his diagnosis. But, at least it is getting some use now and it's a joy to see Owen having fun and playing! I'm sure Owen won't mind the hand-me-downs! I'm just waiting for the day when Owen asks for a 23 inch LCD TV in his room! I don't think so!
Jennifer
After the Storm
Tulsa seems to be getting most of its power back. Last week was crazy! But the storm didn't seem to phase the boys. We all survived and really had no trouble because of the generator. That LIFE SAVING generator! And I have to say a HUGE, HUGE thank you to my Aunt Sue for generously purchasing the generator for our home. It was something she wanted to do for Nate, to contribute to his care. And we cannot begin to tell her how appreciative we are! We were looking into buying a generator when we built this house, but I know, without Sue's financial assistance, we wouldn't have bought the size of generator we have now. And it really made a difference in the situation we were in last week. You don't think something like that will happen, but when it does, and you have a child with the magnitude of life support equipment that Nate has, the peace of mind knowing he will be okay is more than I could ever ask for. So again, THANK YOU to my Aunt Sue in Chicago!
Tuesday, December 11, 2007
Ice Storm Update
As many of you know, Tulsa (and pretty much all of Oklahoma) has been hit extremely hard by an ice storm. We lost power about 4:30AM on Monday morning and it was restored less than an hour ago. Thankfully, our emergency backup generator kicked in and did exactly what is was designed to do! It ran constantly for approximately 40 hours and kept all of Nate's equipment working properly.
The boys are doing fine and we'll update more over the next couple of days.
Trey
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