I'd like to share a story with you that Ruth Hoffman sent to me recently. Ruth is Eric's wife, mother of twelve, head of Candlelighters, a Children's Cancer Foundation, and, now, Hope's grandmother. It is an article about her daughter, Naomi and granddaughter, Hope.
Naomi is amazing enough, someone who makes you believe in miracles. But wait until you meet Hope.
Hope's Story
Interested In receiving a FREE copy? Email Tina Duong at tduong@cnmcresearch.org
January 28, 2009
A duchenne moment
Want to hear a good pick-up line? Read on.
When Nicole, Mary, and Petey were in grade school, it was our custom to celebrate good report cards. On one occasion, even though it was a school night, I treated them to a special dinner in Georgetown.
The name of the restaurant eludes me but we had pieaya and it was exotic and the children were excited to be feted, celebrated.
It must have been nine o'clock by the time we were done eating. The area was deserted but for two men who were talking and laughing across the street. The glow of their cigarettes brightened and dimmed. Seeing them, I felt a momentary sense of unease but shook it off.
Both girls wanted to hold Petey’s hand. One took the left, the other the right and we crossed, the children right behind me.
Now, Petey was still walking but he was unsteady on his feet so we made slow progress. We were in the middle of the road when I saw headlights from an approaching car.
“Quick, Quick!” I warned them.
That’s when Petey fell. The girls tugged on his arms, trying to stand him up. I turned around, scooped him up, and the four of us, Petey, my two daughters, and me, ran to the other side safely, laughing all the way.
The two men, witnesses to our pandemonium, were just feet away. One of them turned to the other and said, “So that’s how you pick up beautiful girls. I’ll have to try it next time!”
What could have been a moment of ‘oh, no, another duchenne fiasco’ became a laugh shared, a moment put in a good light, and the kindess of strangers.
We drove home.
[Well, I didn’t say it was a pick-up line you could use!]
When Nicole, Mary, and Petey were in grade school, it was our custom to celebrate good report cards. On one occasion, even though it was a school night, I treated them to a special dinner in Georgetown.
The name of the restaurant eludes me but we had pieaya and it was exotic and the children were excited to be feted, celebrated.
It must have been nine o'clock by the time we were done eating. The area was deserted but for two men who were talking and laughing across the street. The glow of their cigarettes brightened and dimmed. Seeing them, I felt a momentary sense of unease but shook it off.
Both girls wanted to hold Petey’s hand. One took the left, the other the right and we crossed, the children right behind me.
Now, Petey was still walking but he was unsteady on his feet so we made slow progress. We were in the middle of the road when I saw headlights from an approaching car.
“Quick, Quick!” I warned them.
That’s when Petey fell. The girls tugged on his arms, trying to stand him up. I turned around, scooped him up, and the four of us, Petey, my two daughters, and me, ran to the other side safely, laughing all the way.
The two men, witnesses to our pandemonium, were just feet away. One of them turned to the other and said, “So that’s how you pick up beautiful girls. I’ll have to try it next time!”
What could have been a moment of ‘oh, no, another duchenne fiasco’ became a laugh shared, a moment put in a good light, and the kindess of strangers.
We drove home.
[Well, I didn’t say it was a pick-up line you could use!]
January 22, 2009
Quick Correction of my January 21st post from Toshifumi Yokota
January 21, 2009
Antisense Oligonucleotide: An Exon-Skipping Review
The Achieves of Neurology published a review on exon-skipping therapy in duchenne dystrophy: “A Renaissance for Antisense Oligonucleotide Drugs in Neurology.” (Yokota et al, Jan 2009). Along with the review the authors look ahead to AO production, toxicity studies and “challenges to … drug regulatory attitudes”. This is a collaborative effort of the Hoffman Lab in DC, Lu’s lab in NC and Takeda’s lab in Japan.
The review discusses what we know so far and addresses key therapeutic points.
• How duchenne happens. Dystrophin is the missing gene that causes duchenne, Normally the gene makes DNA, which makes mRNA, and that makes a protein. Some of the gene’s exons are missing or otherwise broken, which halts the protein making process, leaving the muscle without protection that comes from dystrophin.
• How exon skipping works. Exon skipping fixes the break made by the missing exons using a designer small molecule drug, called an antisense oligonucleotide or AO. This molecule attaches itself to the dystrophin gene, making a bridge over the broken place and restoring dystrophin function.
• Skipping multiple exons? In other words, it changes a duchenne mutation (broken dystrophin falls apart) into a becker mutation. The authors make a case for skipping multiple exons at one time because animal trials show this works as well and in some cases better than a single exon. Plus multiple exon skipping would provide a treatment for up to 60 percent of boys with duchenne.
• Knowing what exons to skip. Science must be sure to pick the right exon or exons to skip since some beckers are as destructive as duchenne.
• Which drug is the right one? The authors point out that there are several exon-skipping drugs out there with good preliminary results and that clinical trials are the way to find what approach or approaches work.
• Personalized medicine calls for new approaches. Animals with duchenne have exon hot spots that are different from humans. And giving healthy individuals exons they don’t need is potentially damaging and should be avoided. The review suggests that exon skipping is so individual that the only way researchers and physicians can know if it works and what exons exactly to give is by testing it, starting with small contained doses in the people that need it, our boys.
• The FDA. One of the final hurdles is FDA drug approval. Conventional drug approval does not apply in exon skipping since it is unique to each child.
My humble opinion: Although I am not a scientist, I am a parent and have a stake in what happens, whether it helps my son or not. I thought over a year ago that clinical trials would be underway in the United States soon. They have not begun. And even though we have gained information in the meantime, we would know so much more if clinical trials were underway. Government officials, foundation leaders, scientists, and Biopharmas need to be open with parents about what’s going on, what are the sticking points, and how we can help.
The review discusses what we know so far and addresses key therapeutic points.
• How duchenne happens. Dystrophin is the missing gene that causes duchenne, Normally the gene makes DNA, which makes mRNA, and that makes a protein. Some of the gene’s exons are missing or otherwise broken, which halts the protein making process, leaving the muscle without protection that comes from dystrophin.
• How exon skipping works. Exon skipping fixes the break made by the missing exons using a designer small molecule drug, called an antisense oligonucleotide or AO. This molecule attaches itself to the dystrophin gene, making a bridge over the broken place and restoring dystrophin function.
• Skipping multiple exons? In other words, it changes a duchenne mutation (broken dystrophin falls apart) into a becker mutation. The authors make a case for skipping multiple exons at one time because animal trials show this works as well and in some cases better than a single exon. Plus multiple exon skipping would provide a treatment for up to 60 percent of boys with duchenne.
• Knowing what exons to skip. Science must be sure to pick the right exon or exons to skip since some beckers are as destructive as duchenne.
• Which drug is the right one? The authors point out that there are several exon-skipping drugs out there with good preliminary results and that clinical trials are the way to find what approach or approaches work.
• Personalized medicine calls for new approaches. Animals with duchenne have exon hot spots that are different from humans. And giving healthy individuals exons they don’t need is potentially damaging and should be avoided. The review suggests that exon skipping is so individual that the only way researchers and physicians can know if it works and what exons exactly to give is by testing it, starting with small contained doses in the people that need it, our boys.
• The FDA. One of the final hurdles is FDA drug approval. Conventional drug approval does not apply in exon skipping since it is unique to each child.
My humble opinion: Although I am not a scientist, I am a parent and have a stake in what happens, whether it helps my son or not. I thought over a year ago that clinical trials would be underway in the United States soon. They have not begun. And even though we have gained information in the meantime, we would know so much more if clinical trials were underway. Government officials, foundation leaders, scientists, and Biopharmas need to be open with parents about what’s going on, what are the sticking points, and how we can help.
January 13, 2009
A small tale: GenMed Lap Dog
The animals that live in our house have it pretty good. There’s Sadie, a dog with doe-like eyes, who loves, loves, loves my husband. They walk all over Prince Georges County together. My daughter, Mary, found her as a tick-covered pup wandering the streets of Arizona and brought her home to us. Then there is Pippen the cat, named after the To
lkien character, not the basketball player. He’s fearless. Dogs walk right up to him and I swear he looks bored.Then there is Tommy. Tommy is a yappy, little bit of a dog who thinks I’m his mother. But from the first day he came to live with us, Petey has been the love of his life.
Gerry from work fosters small, poodle-ish dogs picked up by animal rescue. Tommy is one of the dogs she fostered. When he came to us he weighed four pounds and was, we guessed, about seven years old. His coat was shaved to the skin from head to tail. He walked right up to me, put his little butt down and bent his right foreleg up; something I’ve come to recognize as Tommy’s way of saying pick me up.
When he’s insistent about getting picked up, he speeds round and round in circles and simultaneously jumps up and down, like he just found out the best news in the world. The first time I saw this performance, Tommy had walked into Petey’s room. I put him on Petey’s bed and from then on, where Petey was, Tom was sure to be.
Tommy has a few minor social issues. He doesn’t like cats and he doesn’t like dogs. Oh, and he barks at everyone coming in the door, any door, and everyone going out … any door.
At times, he trusts no one with Petey, not even me. Like when we get him up in the morning. While Petey gets washed up and his clothes on, Tommy moans and complains, sounding as sad a sack as that old Hanna Barbara character, Droopy Dog. And when we put Petey up in the hoyer lift to move him between bed and wheelchair, Tom goes bananas. He barks, runs in circles, and gets a look of total fear on his face. It’s like he’s shouting at us, “No! No! You’re hurting him! You’re going to drop him! Put him down!” You would think he’d get used to it but he never does.
Tom has been with us over two years now. He weighs almost 6 pounds. He’s pretty happy and trusts that this is his home now. He’s also the perfect dog for Petey. Tom likes to stay put, as long as it’s wherever Petey is. Petey likes it that way too.
January 1, 2009
2009: Nine new year's resolutions for the muscular dystrophy community
In the world of muscular dystrophy, medical personnel, researchers, and parents are a team. But there is a much larger team to be plugged into, the world of advocacy, funding, and awareness. Here are a few resolutions to make this year the best 2009 that it can be.
1. Parents and affected adults: Muscular Dystrophy affects body, mind and soul... Life works best when balanced so exercise all three.
2. Funding. Funding. Funding: Fund raise, leverage and appropriate funds for muscular dystrophy research. Everything from pennies to dollars to big donor checks are fair game and all make a difference.
3 Put everything we've got, including the kitchen sink, into research: basic, translational and clinical. We need more clinical trial-ready drugs.
4. Biopharmas; Prosensa, PTC, AVI and the like: be ready to push forward with clinical trials. We are 100% behind you and need you to be 100% behind your products. Parents, scientists, foundations, and government agencies offer help and guidance whenever possible.
5. FDA keep us on the right track for each and every stage of clinical research study development and trials.
6. NIH, MDA, Parent Project, and all: Make sure you're funding research that gives you the most bang for your bucks. No status quo funding!
7. Researchers, Biopharmas; funding agencies: Shave off every possible second in making viable muscular dystrophy treatments available.
8. Make a media sensation! the more muscular dystrophy is in the public eye, the better our chances of moving to viable clinical trials.
9. If you believe; pray.
1. Parents and affected adults: Muscular Dystrophy affects body, mind and soul... Life works best when balanced so exercise all three.
2. Funding. Funding. Funding: Fund raise, leverage and appropriate funds for muscular dystrophy research. Everything from pennies to dollars to big donor checks are fair game and all make a difference.
3 Put everything we've got, including the kitchen sink, into research: basic, translational and clinical. We need more clinical trial-ready drugs.
4. Biopharmas; Prosensa, PTC, AVI and the like: be ready to push forward with clinical trials. We are 100% behind you and need you to be 100% behind your products. Parents, scientists, foundations, and government agencies offer help and guidance whenever possible.
5. FDA keep us on the right track for each and every stage of clinical research study development and trials.
6. NIH, MDA, Parent Project, and all: Make sure you're funding research that gives you the most bang for your bucks. No status quo funding!
7. Researchers, Biopharmas; funding agencies: Shave off every possible second in making viable muscular dystrophy treatments available.
8. Make a media sensation! the more muscular dystrophy is in the public eye, the better our chances of moving to viable clinical trials.
9. If you believe; pray.
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