February 1, 2012 / Comments Off
I’ve spent a lot of time lately reflecting on people who inspire me. Marianne Leone is a courageous woman and mother who fought for her son Jesse’s rights – all the while creating a new, easier path for others. Last year, she wrote her own book, Knowing Jesse, which is an incredibly inspiring story about Jesse and as she puts it “A Mother’s Story of Grief, Grace and Everyday Bliss”. Every time I spend time with Marianne, I leave as a better person, as a better mother and woman. She has taught me so much – if you haven’t read her book, it is a must read!
If you haven’t met Marianne in person, please join us this Friday, FEB 3 at Zona, in Hingham Square to share your thoughts with this Inspirational Woman (featured on page 171) and several other women featured in Bill and Kerry Brett’s Boston, Inspirational Women!!!
January 21, 2012 / Comments Off
This is another very moving blog from one of the campers at Camp Promise East; Anthony DeVergillo. Anthony continues to inspire me, Jett and our entire community! Thank you Anthony! Click on the link below to read his inspiring words.
Do Things Differently – Lesson 50
January 17, 2012 / Comments Off
Revatio for Heart Disease in Duchenne Muscular Dystrophy & Becker Muscular Dystrophy (REVERSE DBMD)
This Phase 2 study is being done to determine if the drug Revatio® (also known as Sildenafil) is safe and improves heart function in people with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DBMD). This study is supported by Charley’s Fund, Inc. with travel funds provided by Ryan’s Quest. This study is currently recruiting 11 more males to participate. Eligibility criteria include:
- Diagnosed with DBMD.
- Be age 15 yrs and above.
- Have an echocardiogram, cardiac MRI, or multi-gated acquisition (MUGA) scan that shows cardiac dysfunction with left ventricular ejection fraction (LVEF) less than or equal to 50%.
- Please see the ClinicalTrials.gov summary for additional inclusion criteria.
For the first 6 months, half of the participants will receive Revatio and half will receive placebo (an inactive substance that looks like the study drug, but contains no medication). For the second 6 months of the study, all participants will receive Revatio.
The study is taking place at the Kennedy Krieger Institute, Johns Hopkins School of Medicine in Baltimore, MD. Participants will have a total of 10 clinic visits during a 12 month period. 6 of these visits will be at the Kennedy Krieger Institute and 4 can be done locally. There are funds available to support travel costs.
For more information on the study, please read the Clinical Trials.gov summary here. You can also contact Dr. Genila M Bibat at
443-923-2778 or by email at bibat@kennedykrieger.org This e-mail address is being protected from spambots. You need JavaScript enabled to view it .
December 16, 2011 / Comments Off
My dear friends Cath Jayasuriya and Neil Brandom are coping with one of the less well known symptoms of Duchenne – GERD. Please read Cath’s blog below on the symptoms, the treatment and how they are getting through this as a family.
What’s up with GERD? Hydrochloric acid. That’s what’s up. What makes GERD so nauseating is the hydrochloric acid that leaks up from the stomach and into the esophagus, due to a problem with the upper stomach sphincter muscle. What makes it worse is the accompanying nauseating mucus that is produced in the esophagus as it protects its own surface against the stomach’s acids.
This was all new to me, and especially not something I had anticipated with regards to Duchenne muscular dystrophy. GERD was certainly not something on the Duchenne radar of things to worry about. My son Dusty, who is 19 had been complaining of difficulty swallowing, and had a feeling of food being “stuck” in his throat. We were told these were common symptoms of acid reflux and were given a proton pump inhibitor, which is a small pill taken daily that suppresses acid production in the stomach. That was a year ago, and things didn’t improve. We tried to control the types of food, giving him softer or easy to swallow bland foods. But all along, Dusty was eating less, and continued having a sore throat in spite of what or when he ate. What we realized was that all along, food wasn’t the problem; it was his throat, reacting to the acid that was continually being forced up from his stomach.
Meanwhile, the decline in cardiac and pulmonary functioning steadily continued. After all, Dusty is an older boy with Duchenne and these are the expected issues to watch for. Dusty is on the recommended heart medications, assistive breathing devices, and other standard of care treatments.
In the last month we have had to take Dusty to the ER on three occasions, each time dealing with tachycardia (rapid heartbeat), nausea and difficulty breathing. After a total of 26 hours spent in ER, and four nights in hospital, three of them in cardiac intensive care, we stabilized the heart, stabilized his pulmonary and thought we were home free. But there was something else. Dusty just didn’t feel well. He still had nausea, and an increase in mucus that doctors were thinking was a pulmonary issue. But no. That wasn’t the case.
That’s when I heard about GERD.
What is GERD? And why is it happening?
GERD is gastroesophageal reflux disease; GORD, gastrooesophageal reflux disease; gastric reflux disease, or acid reflux disease. It is a chronic symptom of mucosal damage (mucosa line the interior of the esophagus) caused by stomach acid coming up from the stomach and into the esophagus.
When the muscle valve in the esophagus, called the lower esophageal sphincter loosens or weakens, acid splashes up from the stomach. Normally, this valve should close tightly after eating to prevent acid from escaping.
Part of the diaphragm forms an outer sphincter. In Duchenne, when the diaphragm is weaker, and because the diaphragm muscle is integral in functioning of the sphincter, the valve is permanently weakened or damaged and doesn’t work as well.
Barrett’s esophagus is often diagnosed in those who have had long term GERD. It can be concerning because it increases the risk of esophageal cancer.
I have also read about another kind of acid reflux, which causes respiratory and laryngeal signs and symptoms, and is called laryngopharyngeal reflux (LPR) or extraesophageal reflux disease (EERD).
How do you treat GERD?
The medications used include proton pump inhibitors, which prevent acid reflux over a period of time. These medications decrease the production of stomach acids. Some proton pump inhibitors can help to heal the esophageal lining, which may have become damaged from persistent acid reflux. Other treatments include surgery that helps strengthen the sphincter.
For now, the doctors have Dusty on double the dose of the proton pump inhibitor. In the last month Dusty has been unable to eat solid food. Fortunately he is able to tolerate and supplement his diet with nutritional drinks. In a few weeks there will be a re assessment of any change or improvement to GERD.
Going back to our visits to the ER prior to the GERD diversion, the swing of emotions was intense. Having cardiac issues is serious enough, and watching Dusty’s heart maintain at 200 beats a minute for two hours was frightening. His body literally vibrated in time to the beats. In the ER, it was difficult watching him struggle with nausea, difficulty breathing and feeling unwell. I made sure I kept my mind present with the task at hand and stopped myself drifting into the “what ifs” and the fact that the Duchenne community had recently lost many young boys/men to Duchenne. My mind struggled with this as I helped Dusty’s frail body sit up to cough.
The word got around fast that Dusty was in hospital, mainly due to a facebook post I had made while waiting in the ER. The response was tremendous. Literally hundreds of messages came pouring through from all over the world. I read through the flurry of messages as each came through on my cell phone, and read each one out to Dusty. I was moved and touched by the outpouring of thoughts and prayers and messages of support, some from people I hardly knew. The messages were comforting. I felt the arms of humanity around me and the oneness of us all.
People have been inspired by the journey of Duchenne that so many of us are on. Our stories are told again and again, inspiring stories of our young sons and their families who know what it means to literally make the best of everyday. Through this journey I have met the most kind and caring people. Living with Duchenne can bring out the best in people whether they are on the journey themselves or not.
Yes, it is a harsh disease. Our hearts break together. In this way the Duchenne community is close. Somewhere in between the ups and downs of the cruel reality of this disease, we find life’s rainbow, the subtle, unexpected beauty that appears when we are not looking for it.
Dusty is still unwell, and he will need to wait out the proton pump inhibitor to work. It can take weeks. For now, he prefers to sit in a dim lit room to help with his nausea, close to an assistive cough-machine that helps to clear the mucus caused by the acid in the esophagus. For the moment we won’t be going on our daily walks, or flying his remote-control planes. Instead we will hang quietly and patiently indoors for this to pass. When I look into his blue eyes, my mind stops racing and worrying, and I feel a sense of calmness and ease. It is moments like these, and there are many, when all is good.
Written by: Cath Jayasuriya
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Please check out the slides from James Poysky’s talk about behavior and learning for individuals with DMD: http://www.slideshare.net/ChristineMcSherry/poysky-boston-2011
Thanks to everyone who attended this talk!
November 17, 2011 / Comments Off
Congratulations to the Jett Foundation’s Christine McSherry on her inclusion in Bill and Kerry Brett’s “Inspirational Women of Boston.” We’re so proud of you, Christine.
Find out more about the book at Kerry Brett’s Website.
-The Jett Foundation Staff
November 16, 2011 / Comments Off
We’re excited to announce that two of the talks from Saturday’s Duchenne Roundtable are now available on UStream. Please click on the link below to watch. Due to technical difficulties, we only have half of Dr. Craig Canapari’s talk.
Watch the broadcast from the event.
We’ll have video of the other talks loaded up in the next few days.
November 9, 2011 / Comments Off
Vegas Night @ Fenway was a wonderful success, raising over $30,000 for Duchenne!
Check out the Photos from Vegas Night @ Fenway.
Special thanks to Kayleigh Frampton (kayleighjenniferphotos.com) for the photos.
November 2, 2011 / Comments Off
Over the last six months, I have worked with some very passionate organizations and researches to develop a platform where researchers and funders can meet.
This spring, we created the Duchenne Alliance to help create better communication and collaboration between Duchenne-specific organiztaions. This fall, we unveiled the Duchenne Dashboard, which will improve the way we find and fund Duchenne research.
I have logged so many hours, talking with different foundations and scientists, weighing in on the reasons for joining the Alliance and Dashboard.
Today, one reason hit me like a thunderbolt.
I touched base with a small bio-tech company and the researcher who heads it. Earlier this year, he expressed excitement to see the silos of the Duchenne foundations begin to come together – or if nothing else, to create a blueprint of how they might come together and begin to function. He offered his own expertise in software; he offered his own stories of frustration due to lack of funding, the difficulty of reaching out to other organizations and the impossibility of locating all of the resources available to make his proposals better.
I have known this researcher for 11 years, he has dedicated 11 years to Duchenne. Today he told me he was going to end it, and he would move on to another project that affects another type of MD. He told me that while he is not the expert on everything in his proposal that after 18 months, finally got rejected for numerous reasons – there is NO WAY for him to locate the expertise he needs to collaborate, to make his proposal better.
What happens to his 11 years of research now? What happens to the data that he created, good or bad? I can’t help but think that this is worth something to our community.
With one last plea, he agreed to submit his proposal to the Duchenne Dashboard, realizing that it still might not get funded – but for two other important reasons:
1. he just might find the needed resources, fill in the holes of his proposal by utilizing the expertise of scientific advisors on the dashboard
2. he can allow his proposal to be shared. He can let others know how far he got and where the stumbling blocks were.
We have an opportunity to radically improve the way we find and fund research for Duchenne. We can’t waste any more time. We can’t waste any more good faith efforts to help the community.
