Or to the lab, rather. This morning the Duchenne community was dealt a pretty crushing blow. Prosensa/GSK's Phase III trial of the exon 51 skipping drug, Drisapersen, failed to meet it's end points. What that means is that the boys on the drug showed no significant statistical improvements over the boys in the placebo group.
If you are completely lost, read Building a Bridge Part 1 and part 2.
What this means for Pro044, the version of Drisapersen that is supposed to help Little, is still unknown at this time. The Phase III trial for that one was slated to start next fall. I don't know if they will go forward with it or not. I do know that they have discontinued dosing any of the boys in the 51 trial and are looking into it more to see if there may be a subset of boys who benefitted more than others.
It was with a very heavy heart that I read the news on Facebook today. This was the drug that most of us had pinned our hopes on. I know that it wasn't going to be a cure, but I had really hoped that it would be the drug that improved Little's quality of life. Worst case, the drug is abandoned all together ~ best case, they can reformulate it and start new trials.
There is still a similar drug out there in trials called Eteplirsen, by Sarepta Therapeutics. It is also an exon skipping drug targeted at 51. I am holding out some hope that this one fares better than Drisapersen. If so, then hopefully they will add in a formula targeted at the exon Little needs skipped but for right now, it is not on their list.
Although I am saddened by the failure of the drug trial, I am not defeated. When Little was diagnosed in 2011, we had the bomb dropped on us right then. Duchenne was introduced to us as an absolutely fatal, not even a treatment to help him slow it down, take your kid home and love him while you have him disease. So I already come from a place of quiet, reserved hope while still preparing for a life where no drug is viable in time for Little. Push along and do what I can to make sure his days are the best they can be, trusting in God to take care of him until the Duchenne sends him Home. Crossing my fingers that one of these labs unlocks the key to reversing muscle waste while still planning on the timeline of deterioration that Duchenne has always followed for every single one of its victims. Cautious optimism, if you will. I've always known that even if this drug did work, that it might not be available in time for my son. This may have been the biggest and brightest hope for a long term therapy for Andrew and the others, but it certainly isn't the only thing out there. There are many more drugs on the horizon, more labs working on research, and more people aware of this disease than ever before. I've got my fingers crossed for Halo for one. Halo is working on HT-100, a drug that is intended to promote healthy muscle regeneration, diminish inflammation and the resulting damage to muscle, and decrease the scar tissue that forms in the muscles of children with DMD. Less scar tissue = more flexibility and less pain. Yes, please. As Parent Project Muscular Dystrophy (PPMD) said today, "We have lost a battle, not the war".
I know some of you are thinking "How can she still trust in God to take care of her son when He let this drug fail? She sure thanked Him for the discovery of the drug - where is He now?" Well, it's simple. Its called faith. I have faith that God will take care of Andrew because he said He would.
"For I know the plans I have made for you" declared the Lord. "Plans to prosper you, and not to harm you, plans to give you hope, and a future. Then you will call on me and come and pray to me, and I will listen to you. You will seek me and find me, when you seek me with all your heart." Jeremiah 29: 11-13
I still believe that the discovery of exon skipping therapies will be a gateway to curing all sorts of genetic disorders. Maybe not Duchenne, and that's okay. Disappointing, but okay. And maybe a drug therapy won't come at all during Little's lifetime, and that's okay, too. Again, disappointing, but as always, not my will but Thine.
I leave you with the hymn that always pops into my head during times like this ~ times of let down, times of dashed hope. Times where the future looks dark and scary and I feel helpless to save Andrew from his broken genes. Times when I need to remind myself that this life is temporary and what is waiting for us on the other side is full of grace and mercy.
When peace, like a river, attendeth my way, when sorrows like sea billows roll; whatever my lot, Thou hast taught me to say, it is well, it is well with my soul.
Though Satan should buffett, though trials should come, let this blest assurance control, that Christ has regarded my helpless estate and hath shed His own blood for my soul.
It is well with my soul.
Our life as a family coping with Duchenne Muscular Dystrophy.
Little's Life
Friday, September 20, 2013
Tuesday, September 3, 2013
Totally Emma
Since the tone of my last post was less than upbeat, I thought I'd switch gears with this one. I can't think of a better topic to make everyone smile and cheer than one incredible little miss;
Emma is the daughter of an old high school friend of mine, Kenny, and his wife Jerilyn. This may sound familiar to some of you, since I have talked about her and asked for prayers on her behalf before on Facebook. For the folks who don't know much about her, I'll give a little background.
This is from her CaringBridge page (http://www.caringbridge.org/visit/emmawasson)
Emma Wasson was born Saturday, August 25 2012 at 4:12 a.m. She was induced at 38 weeks due to some heart rate decreases. Everything on ultrasound looked fine, but my doctor still had a "gut feeling" something was wrong. The doctor said it would probably lead to c-section because inductions at 0 cm dialated are not usually successful. Emma surprised us all! Mom went 0-10 cm dialated in less than 7 hours, pushed for an hour, and she was here! It was a stressful delivery because her heart rate kept dropping and it went so fast. She weighed 5 lbs 3 oz, 18 3/4 inches long, and had an apgar of 7.9. She appeared to be a healthy newborn. Two hours later while in the nursery getting her bath, she turned blue. They called in a pediatrician. The pediatrician said oxygen levels were not good and she heard a heart murmur. Emma was transferred to Arkansas Children's Hospital. Mom and Dad were released an hour later (6 hours after birth) to follow her. She was diagnosed with Pulmonary Atresia with Intact Ventricular Septum (PA-IVS). This particular type of heart defect is rare. This heart defect (present at birth) made her a candidate for a genetic disorder. Three weeks later she was diagnosed with Turner Syndrome, a genetic disorder affecting girls only due to a missing X sex chromosome. Only 1% of fetuses live to term with this genetic disorder. Only two people in medical journal history have had the above combination of disorders. Emma also had a coarctation of the aorta. This is rare because children usually do not live with disease on both sides of the heart. Emma developed chylous effusion soon after birth and the drainage tube caused a perforation in her bowel. This led to abdominal surgery. Emma has had 4 heart catheter procedures, one open heart surgery, and one abdominal surgery.
Emma's odds of survival were slim - very slim. On more than one occasion, the Wassons had to make heart wrenching end of life care decisions. But every time the doctors have said "There is nothing more we can do", Emma has dug her heels in and won. She is one determined tot! To everyone's amazement, Emma grew stronger, beat infections and pneumonia, her kidneys, lungs, and heart began to heal, she started tolerating her feeds, and fought her way not only off of the "palliative care" list, but out of the hospital completely after 254 consecutive days. She has been home for 4 months now, with only a few short stays in the hospital since coming home!
She (and her parents) has SO many people in her corner. Emma is a beautiful, miraculous proof of the power of prayer. This defiant little girl refused to follow the path that so many others with complicated genetic disorders sadly must follow and just celebrated her very first birthday.
I have been praying for this girl her whole life. Something about her story and the way her mother pushes forward each and every day - even in the darkest of hours - with her faith in God and hope in her heart just absolutely struck a chord in me. The way she writes about her journey is so real and raw and I am so grateful she has chosen to allow all of us into this world that she could have kept private. I am so inspired by Jerilyn and Kenny and the way they have soldiered through this incredible roller coaster ride Emma has taken them on this past year. They make me want to do better and be better for Andrew, whose medical care at the moment pales in comparison to Emma's.
Emma's parents have asked that everyone who can, consider donating one of two Tiny Love Mobiles to Arkansas Children's Hospital CVICU in honor of Emma's 1st birthday. There is a pink version and a green version.
Emma has the pink one and loves it. It has been with her through every hospital stay. You can find them for just over $20 at Target and I've even made it super easy for you, just click on a color for a direct link (pink or green). They are also available at BabiesRUs, Albee Baby, Amazon, and Diapers.com.
You can have them shipped to the hospital at:
I just wanted to publicly wish sweet Emma a very VERY happy birthday and thank all of you who have also been praying for her and her parents. Please don't stop! The challenges for Emma, Kenny, and Jerilyn are not in the past. Emma continues to keep her parents and doctors on their toes with her medical conditions. But they've all learned to expect nothing less from their girl.
Please keep Emma and Andrew both in your thoughts on Thursday, as they both have cardiology appointments that day. Prayers for good scans that show strong hearts for both of these precious babes!
*If you'd like to follow Emma on Facebook, her url is https://www.facebook.com/TotallyEmma and her CaringBridge link is toward the beginning of this post. To learn more about Turner Syndrome, check out http://www.turnersyndrome.org/ and to learn more about Pulmonary Atresia, you can find information on it at http://www.mayoclinic.org/pulmonary-atresia/ .
Emma Wasson
Emma is the daughter of an old high school friend of mine, Kenny, and his wife Jerilyn. This may sound familiar to some of you, since I have talked about her and asked for prayers on her behalf before on Facebook. For the folks who don't know much about her, I'll give a little background.
This is from her CaringBridge page (http://www.caringbridge.org/visit/emmawasson)
Emma Wasson was born Saturday, August 25 2012 at 4:12 a.m. She was induced at 38 weeks due to some heart rate decreases. Everything on ultrasound looked fine, but my doctor still had a "gut feeling" something was wrong. The doctor said it would probably lead to c-section because inductions at 0 cm dialated are not usually successful. Emma surprised us all! Mom went 0-10 cm dialated in less than 7 hours, pushed for an hour, and she was here! It was a stressful delivery because her heart rate kept dropping and it went so fast. She weighed 5 lbs 3 oz, 18 3/4 inches long, and had an apgar of 7.9. She appeared to be a healthy newborn. Two hours later while in the nursery getting her bath, she turned blue. They called in a pediatrician. The pediatrician said oxygen levels were not good and she heard a heart murmur. Emma was transferred to Arkansas Children's Hospital. Mom and Dad were released an hour later (6 hours after birth) to follow her. She was diagnosed with Pulmonary Atresia with Intact Ventricular Septum (PA-IVS). This particular type of heart defect is rare. This heart defect (present at birth) made her a candidate for a genetic disorder. Three weeks later she was diagnosed with Turner Syndrome, a genetic disorder affecting girls only due to a missing X sex chromosome. Only 1% of fetuses live to term with this genetic disorder. Only two people in medical journal history have had the above combination of disorders. Emma also had a coarctation of the aorta. This is rare because children usually do not live with disease on both sides of the heart. Emma developed chylous effusion soon after birth and the drainage tube caused a perforation in her bowel. This led to abdominal surgery. Emma has had 4 heart catheter procedures, one open heart surgery, and one abdominal surgery.
Emma's odds of survival were slim - very slim. On more than one occasion, the Wassons had to make heart wrenching end of life care decisions. But every time the doctors have said "There is nothing more we can do", Emma has dug her heels in and won. She is one determined tot! To everyone's amazement, Emma grew stronger, beat infections and pneumonia, her kidneys, lungs, and heart began to heal, she started tolerating her feeds, and fought her way not only off of the "palliative care" list, but out of the hospital completely after 254 consecutive days. She has been home for 4 months now, with only a few short stays in the hospital since coming home!
She (and her parents) has SO many people in her corner. Emma is a beautiful, miraculous proof of the power of prayer. This defiant little girl refused to follow the path that so many others with complicated genetic disorders sadly must follow and just celebrated her very first birthday.
I have been praying for this girl her whole life. Something about her story and the way her mother pushes forward each and every day - even in the darkest of hours - with her faith in God and hope in her heart just absolutely struck a chord in me. The way she writes about her journey is so real and raw and I am so grateful she has chosen to allow all of us into this world that she could have kept private. I am so inspired by Jerilyn and Kenny and the way they have soldiered through this incredible roller coaster ride Emma has taken them on this past year. They make me want to do better and be better for Andrew, whose medical care at the moment pales in comparison to Emma's.
Emma's parents have asked that everyone who can, consider donating one of two Tiny Love Mobiles to Arkansas Children's Hospital CVICU in honor of Emma's 1st birthday. There is a pink version and a green version.
You can have them shipped to the hospital at:
Arkansas Children's Hospital
Attn: Volunteer Services
1 Children's Way, Slot 108
Little Rock, AR 72202
The hospital is excited to see how many will be donated!I just wanted to publicly wish sweet Emma a very VERY happy birthday and thank all of you who have also been praying for her and her parents. Please don't stop! The challenges for Emma, Kenny, and Jerilyn are not in the past. Emma continues to keep her parents and doctors on their toes with her medical conditions. But they've all learned to expect nothing less from their girl.
Please keep Emma and Andrew both in your thoughts on Thursday, as they both have cardiology appointments that day. Prayers for good scans that show strong hearts for both of these precious babes!
*If you'd like to follow Emma on Facebook, her url is https://www.facebook.com/TotallyEmma and her CaringBridge link is toward the beginning of this post. To learn more about Turner Syndrome, check out http://www.turnersyndrome.org/ and to learn more about Pulmonary Atresia, you can find information on it at http://www.mayoclinic.org/pulmonary-atresia/ .
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