As a young, high school girl, I walked around the perimeter of the football field, my eyes in the stands looking for friends. I could feel the energy, the excitement, but soon recognized I had to learn about the game, the sport, the rigor, the diligence, the strategy. And, over the years, I did just that. As a college student, I attended Mt. St. Joseph College, at the time, an all girls college. We had no football team, but we were all committed Buckeye fans and spent a considerable amount of time finding reasons to travel to Columbus, not the least of which was to watch the Buckeyes play. In 1968, the Ohio State Buckeyes football team was considered one of the strongest in OSU history. The Buckeyes capped an undefeated season with a dominating 50–14 victory over arch-rival Michigan.
College is a special time in life, with so many wonderful moments, times that, even still today make me smile. That day in 1968, when the Buckeyes won and we knew we would be in Pasadena for the Rose Bowl, I remember the parade as if it was yesterday. The crowd was energized, jubilant. They removed the goal post and headed down High Street toward downtown. The fans were hoisting college students on top of the goalpost, singing and screaming. I was one of those young college students, triumphant and over the moon about that game and the upcoming Rose Bowl. Just thinking about football season reminds me of college, of happy days and now – of opportunities for our sons.
Fast forward to 2010. Jim Tressel, OSU’s coach and one of our biggest supporters will be wearing an armband and leading the Buckeyes to victory! Now, not only am I supporting OSU, OSU is supporting us.
The first time I met Tom in the ICU, I asked about his watch – Notre Dame Champions. Tom played Defense for Notre Dame, recruited by Ara Parsegian. Tom’s father had made a scrapbook of his career – Ignatius High School in Cleveland, followed by the fighting Irish of Notre Dame. Chris and Patrick loved that scrapbook, turning each page, reciting plays, scores, and dreaming dreams. Dreams of the Golden Dome. Dreams of running out on that field. Dreams of scoring. I had my own dreams and over and over, just wished for Chris and Patrick to stand on that field. Just once.
Football is the stuff of dreams for all of us – wishing in our own life to make that Touchdown.
On 9.25.2010, I’ll be watching OSU. Tom will be cheering the Irish. And while we cheer for different teams, we agree on one thing – to End Duchenne. Hundreds of coaches will be wearing the Coach To Cure MD armbands with millions of spectators and all of you, raising awareness, raising money, BUYING TIME…
9.25.2010 is a game changer for Duchenne, a time for all of us to do something, to stand up, to connect to everyone we know and anyone they know. My ‘game plan’ is to connect, to ask family, friends, strangers to help, to TEXT the word CURE to 90999, to give what they can, to get in the game and to be a game changer… for Duchenne.
What will you be doing on 9.25.2010?
Visit Team PPMD's page or create your own page and ask friends and family to support Coach To Cure MD.
Thursday, September 9, 2010
Tuesday, August 17, 2010
Why did Blake die? Why do some boys die so young?
I first met Whalen, Blake’s dad, just after Blake was diagnosed. It was summer, just before our Annual Connect Conference scheduled in Pittsburgh, PA. Whalen rode his bike from Florida to Pittsburgh. Red-faced, he arrived- tired, hot, and smiling. From that day on, Whalen and Allison were committed to help Blake and every other boy. We met often – conference, marathons, and in Washington.
We lost Blake last week. While showering he fell, fractured his femur and died. We are all asking questions – why are we losing boys so young? what is happening, what is the sequence of events – is the heart giving out, did the fracture initiate a cascade of events? what do we need to learn about these young hearts? what should we do, what could we learn, how could we be more proactive and would that help? How would we know?
When we learn that we lost one of our own and so young, there are no words. It hits in a place some of us never realized existed. Our hearts are broken, we are outraged, but more than that, we want answers. And the truth of the matter is that we actually do not know the sequence of events, nor do we have any answers.
There are many reasons that could cause our sons to die early. They range includes infections, pulmonary events (choking, embolism, respiratory arrest), cardiac events (arrhythmia, infarction)...and the only way we could ever learn about exactly what happened is by autopsy. And that word is so difficult, much too big to fit into our heart and mind.
And when our sons “look so good,” it is impossible to know. And because they are living with Duchenne, they may not know what our definition of ‘feel good’ means. How many times have people said this about your son. And how many times have you choked up, knowing Duchenne hearts are not so strong, Duchenne bones are not so strong, Duchenne muscles are not strong. Our sons faces are photographed on the cameras of our soul; those beautiful faces and eyes that radiate a wisdom many adults would be unable to comprehend and along with that external beauty, we see a fragility, unseen by most, but visible to those that love them.
In fact, the ‘he looks good’ should remind us that external beauty does not provide a full picture. It is the inside that counts, that makes the differences, sometimes between life and death. And we have a lot to learn about heart, about bone, about muscle… and we will.
I have a dear friend who always responds to the ‘how are you’ question in this way…I’m fine and thankful, because in the next 5 minutes everything could change. Life is not a dress rehearsal, appreciate the time you have and use every moment.
God Bless Blake and every other young man that has touched our lives for only a short time. Our fallen heroes. God Bless all of us who will miss them every day of our lives.
(Click here to read Blake's obituary)
We lost Blake last week. While showering he fell, fractured his femur and died. We are all asking questions – why are we losing boys so young? what is happening, what is the sequence of events – is the heart giving out, did the fracture initiate a cascade of events? what do we need to learn about these young hearts? what should we do, what could we learn, how could we be more proactive and would that help? How would we know?
When we learn that we lost one of our own and so young, there are no words. It hits in a place some of us never realized existed. Our hearts are broken, we are outraged, but more than that, we want answers. And the truth of the matter is that we actually do not know the sequence of events, nor do we have any answers.
There are many reasons that could cause our sons to die early. They range includes infections, pulmonary events (choking, embolism, respiratory arrest), cardiac events (arrhythmia, infarction)...and the only way we could ever learn about exactly what happened is by autopsy. And that word is so difficult, much too big to fit into our heart and mind.
And when our sons “look so good,” it is impossible to know. And because they are living with Duchenne, they may not know what our definition of ‘feel good’ means. How many times have people said this about your son. And how many times have you choked up, knowing Duchenne hearts are not so strong, Duchenne bones are not so strong, Duchenne muscles are not strong. Our sons faces are photographed on the cameras of our soul; those beautiful faces and eyes that radiate a wisdom many adults would be unable to comprehend and along with that external beauty, we see a fragility, unseen by most, but visible to those that love them.
In fact, the ‘he looks good’ should remind us that external beauty does not provide a full picture. It is the inside that counts, that makes the differences, sometimes between life and death. And we have a lot to learn about heart, about bone, about muscle… and we will.
I have a dear friend who always responds to the ‘how are you’ question in this way…I’m fine and thankful, because in the next 5 minutes everything could change. Life is not a dress rehearsal, appreciate the time you have and use every moment.
God Bless Blake and every other young man that has touched our lives for only a short time. Our fallen heroes. God Bless all of us who will miss them every day of our lives.
Thursday, August 5, 2010
Definition of terms
The roller coaster of Duchenne has been in high gear this week with BioMarin’s announcement to halt trials and one day later, Acceleron’s press release about receiving Fast Track Status. I don’t know about you, but in a certain way, it sounds like Fast Track Status should be a high speed train, capable of 220 mph. The reality is that the Fast Track Status train is the same train, with better fuel (expedited review) and more tech support (FDA interaction).
I am pretty sure, everyone may have a different definition of Fast Track Status and thought maybe it would help to clarify what this means in reality.
In 1983, Congress passed the Orphan Drug Act.
Orphan Status:
The Division of Orphan Products is responsible for:
Fast Track Status – the purpose of Fast Track Status (accelerated approval and priority review) is to speed reviews and provide more extensive guidance to sponsors about the nature of the evidence that will be required in order to support approval.
There is one more mechanism you might hear about to facilitate review – Special Protocol Assessment – which allows the FDA to provide expedited assessment of the adequacy or appropriateness of specific clinical trial protocols and to reach an agreement with sponsors about the design and size of a certain trial to support efficacy (benefit) claims. Normally, this is ONLY available at the end of a Phase II trial.
Bottom line: Acceleron has not gotten approval to start the trials in the US yet…Fast Track Status does not mean IND Approval.
This is all very difficult to take in and most of the time, seems pretty confusing. Often patients/families see the designation of Fast Track as some sort of vehicle that may deliver the drug quicker. In essence, because of the expedited review, guidance from FDA is intended for that purpose. But for those of us watching and waiting, heart in hand, it does not answer the ‘when’ question. It is strictly related to the FDA process.
I am pretty sure, everyone may have a different definition of Fast Track Status and thought maybe it would help to clarify what this means in reality.
In 1983, Congress passed the Orphan Drug Act.
Orphan Status:
- Drug (or biologic) for an orphan indication.
- Definition of rare disease– affects less than 200,000 people in the US
- High unmet medical need
- 7 years of market exclusivity
- Tax credit of up to 50% for qualified expenses for research support to support approval of the Orphan drug
- Exemption from several kinds of user fees
- Guidance from FDA staff to sponsors
The Division of Orphan Products is responsible for:
- granting Orphan Status
- is able to provide small grants for sponsors (based on application/review)
Fast Track Status – the purpose of Fast Track Status (accelerated approval and priority review) is to speed reviews and provide more extensive guidance to sponsors about the nature of the evidence that will be required in order to support approval.
- Includes a ‘rolling review’ by FDA, where companies submit modules of an NDA (new drug application) for a rolling review which allows more frequent consultation and dialogue with FDA on issues related to the application.
- Fast Track may include ‘accelerated approval’ which allows the use of surrogate (secondary) endpoints likely to predict clinical benefit. The FDA would likely require post-approval studies in order to collect additional evidence about safety and benefit.
- Fast Track applications may also qualify for ‘priority review’ which means FDA sets a goal of completing reviews within 6 months compared to the standard process of 10 months.
There is one more mechanism you might hear about to facilitate review – Special Protocol Assessment – which allows the FDA to provide expedited assessment of the adequacy or appropriateness of specific clinical trial protocols and to reach an agreement with sponsors about the design and size of a certain trial to support efficacy (benefit) claims. Normally, this is ONLY available at the end of a Phase II trial.
Bottom line: Acceleron has not gotten approval to start the trials in the US yet…Fast Track Status does not mean IND Approval.
This is all very difficult to take in and most of the time, seems pretty confusing. Often patients/families see the designation of Fast Track as some sort of vehicle that may deliver the drug quicker. In essence, because of the expedited review, guidance from FDA is intended for that purpose. But for those of us watching and waiting, heart in hand, it does not answer the ‘when’ question. It is strictly related to the FDA process.
Wednesday, August 4, 2010
It's the little things.
Genetic Alliance Gene Screen
Last weekend I participated in the Genetic Alliance Gene Screening films (Marfan, Power of Two, Rick Guidotti, Darius Goes West) on Thursday evening. Many of us are already familiar with Darius Goes West (DGW) so I thought I would concentrate a bit on the other films and the common threads that link all of us together. I wondered how the evening would go, sitting through 3 ½ hours of films on specific rare disease.
The films were shown at the E-Street Theater in Washington, DC. Sitting in the darkened room, popcorn in hand, the first film started. It was a film about Marfan’s disease. Like all rare disease, Marfan has a spectrum of disease and patients have typical physical characteristics. The film interviewed several families and their connections to each other. The story was amazing, not only describing the disease process, but clearly demonstrating the beauty of connecting, of working together. Individuals with Marfan have very long arms and legs and sometimes, these patients ‘wear’ their disease, often feeling isolated, alone. The film was perhaps one of the most creative I have seen, utilizing the skills of a professional dancer to teach young people with Marfan to dance, using their long limbs as expressions of individuality. You cannot help but be moved by this film and hopefully you will have an opportunity to see it on PBS.
Rick Guidotti is a professional photographer with a long career capturing the beauty, first of professional models for magazines such as Vogue. At a certain moment, Rick was captured by another beauty, a young woman with Albinism and abruptly changed his focus to portray the beauty of rare disease.
Power of Two, is a story of two young CF patients living in the United States and given new life through organ transplant. These two lovely woman are from Japan, where organ transplantation is not done for a host of reasons. They are promoting organ donation and transplantation in a country where patients are typically not given second chances.
And finally, Darius Goes West, a film about Duchenne and access and the gift of friendship. Darius was Skyped in from Atlanta – a new Darius in a way, healthier after losing considerable weight and smiling, aggressively working on his career in rap music.
Friday, I participated in a leadership seminar at the Genetic Alliance conference and ended the day as a ‘talking head’ in the debate – “Who wears the pants? Evolving power dynamics in clinical care.” The debate concentrated on CARE – basically a discussion of who is in charge. The panel consisted of:
Kemp Battle, Genetic Alliance Council
Barb Biesecker, NHGRI, NIH
Howard Levy, Johns Hopkins University
Marcia Wright, Sickle Cell Disease Association of America, Eastern North Carolina Chapter
Pat Furlong, Parent Project Muscular Dystrophy
The discussion was lively, including obstacles to care (reimbursement, liability, demands on schedule, etc.) and the need for coordinated multi-discipline teams. From my point of view, patients/family members “wear the pants,”, seeking out expertise and experience and advocate for optimal care. At the end of the day, we agreed that in the near future, well trained nurses (nurse practitioners) should take over the world to coordinate patient care …ok, so I admit this may reflect some degree of bias.
Naples
This meeting occurs every 4 years. It is pretty amazing to witness the energy and the enthusiasm in the community. This is one of a long list of meetings focused on neuromuscular diseases and because it was just on the heels of the PPMD Connect Conference in Denver, I’ll just hit the highlights and add in some thoughts along the way.
Eight years ago the meeting was in Canada, just after the 1992 PPMD Connect Conference held in Pittsburgh that year. Many of the presenters from PPMD headed directly to Canada. That year, both Steve Wilton and Judith VanDeutekom were armed with posters describing their work on exon skipping, programs funded by PPMD. Sitting in the Naples meeting, I found myself remembering those early days, when exon skipping was so far away. And now, in Naples, we were hearing results of the early studies – safety, dose escalation, and plans to move forward. Dr. Griggs discussed the upcoming steroid trials and that they have now applied for orphan status for Deflazacort. Annemieke is brilliant. I am always amazed at her ability to present data in a clear, concise, and balanced manner. Two of her colleagues from Leiden accompanied her with posters and presentations and I have to say, they too are brilliant (but I keep thinking they look like they are in high school).
• Presentations and discussion around the results, to date, of exon skipping trial, in the PMO, skipping exon 51 – 7/19 patients showed an improvement in dystrophin levels and only 3/19 patients responded strongly, with the conclusion that we may need higher doses than 20mg/kg.
• Dr. Griggs discussed the upcoming steroid trials and said they had applied for orphan drug status for Deflazacort. Finally! It is long overdue.
• Dr. Muntoni’s presentation included a discussion about the cost of therapies for rare diseases. A child diagnosed with Pompe and treated over a lifetime with Myozyme would cost an estimated $35 million dollars. Is there any wonder why advocacy is important?
• Dr. Bushby presented on Ataluren. Subanalysis suggests a trend toward benefit with low dose. Questions related to biopsy data were answered by Langdon Miller. Dr. Miller talked about the complexity of the biopsies, the number of surgeons performing the procedure, the orientation of the specimen, processing/shipping and collections to a central lab. Many of the specimens have freezing artifact. But they have not given up and will continue to work hard on the analysis in spite of the complexity.
• (poster sessions) Discussed the Dutch study on physical training in Duchenne and “no use is disuse,” as well as quality of life issues.
• Discussions around proactive cardiac care, insulin resistance and dissemination, and implementations of standards of care in Duchenne (Care Considerations).
Because there are so many meetings, and this one, just following PPMD’s Connect Conference, there was little ‘new’ news. I find that the side conversations are the most useful and I typically craft some strategic questions to ask and bring back to PPMD’s staff and scientific advisors. Questions such as:
• What do you see as gaps in clinical care?
• What do you see as barriers to therapies?
• What progress have you made in terms of measuring and validating patient-reported outcomes and do you plan to implement any of these measures as secondary outcome measures for upcoming clinical trials?
• Would it be possible to consider adding non-ambulatory patients (safety) once a registration trial was fully recruited?
• If there was one thing that you could do/change/support to move therapies forward, what would it be?
• Do you worry that there is a therapeutic misconception about what current therapies are likely to deliver?
• Do you have concern about access to emerging therapies?
And I ask for proposals, delivering them to PPMD’s leadership as we plan our strategy to End Duchenne.
Last weekend I participated in the Genetic Alliance Gene Screening films (Marfan, Power of Two, Rick Guidotti, Darius Goes West) on Thursday evening. Many of us are already familiar with Darius Goes West (DGW) so I thought I would concentrate a bit on the other films and the common threads that link all of us together. I wondered how the evening would go, sitting through 3 ½ hours of films on specific rare disease.
The films were shown at the E-Street Theater in Washington, DC. Sitting in the darkened room, popcorn in hand, the first film started. It was a film about Marfan’s disease. Like all rare disease, Marfan has a spectrum of disease and patients have typical physical characteristics. The film interviewed several families and their connections to each other. The story was amazing, not only describing the disease process, but clearly demonstrating the beauty of connecting, of working together. Individuals with Marfan have very long arms and legs and sometimes, these patients ‘wear’ their disease, often feeling isolated, alone. The film was perhaps one of the most creative I have seen, utilizing the skills of a professional dancer to teach young people with Marfan to dance, using their long limbs as expressions of individuality. You cannot help but be moved by this film and hopefully you will have an opportunity to see it on PBS.
Rick Guidotti is a professional photographer with a long career capturing the beauty, first of professional models for magazines such as Vogue. At a certain moment, Rick was captured by another beauty, a young woman with Albinism and abruptly changed his focus to portray the beauty of rare disease.
Power of Two, is a story of two young CF patients living in the United States and given new life through organ transplant. These two lovely woman are from Japan, where organ transplantation is not done for a host of reasons. They are promoting organ donation and transplantation in a country where patients are typically not given second chances.
And finally, Darius Goes West, a film about Duchenne and access and the gift of friendship. Darius was Skyped in from Atlanta – a new Darius in a way, healthier after losing considerable weight and smiling, aggressively working on his career in rap music.
Friday, I participated in a leadership seminar at the Genetic Alliance conference and ended the day as a ‘talking head’ in the debate – “Who wears the pants? Evolving power dynamics in clinical care.” The debate concentrated on CARE – basically a discussion of who is in charge. The panel consisted of:
Kemp Battle, Genetic Alliance Council
Barb Biesecker, NHGRI, NIH
Howard Levy, Johns Hopkins University
Marcia Wright, Sickle Cell Disease Association of America, Eastern North Carolina Chapter
Pat Furlong, Parent Project Muscular Dystrophy
The discussion was lively, including obstacles to care (reimbursement, liability, demands on schedule, etc.) and the need for coordinated multi-discipline teams. From my point of view, patients/family members “wear the pants,”, seeking out expertise and experience and advocate for optimal care. At the end of the day, we agreed that in the near future, well trained nurses (nurse practitioners) should take over the world to coordinate patient care …ok, so I admit this may reflect some degree of bias.
Naples
This meeting occurs every 4 years. It is pretty amazing to witness the energy and the enthusiasm in the community. This is one of a long list of meetings focused on neuromuscular diseases and because it was just on the heels of the PPMD Connect Conference in Denver, I’ll just hit the highlights and add in some thoughts along the way.
Eight years ago the meeting was in Canada, just after the 1992 PPMD Connect Conference held in Pittsburgh that year. Many of the presenters from PPMD headed directly to Canada. That year, both Steve Wilton and Judith VanDeutekom were armed with posters describing their work on exon skipping, programs funded by PPMD. Sitting in the Naples meeting, I found myself remembering those early days, when exon skipping was so far away. And now, in Naples, we were hearing results of the early studies – safety, dose escalation, and plans to move forward. Dr. Griggs discussed the upcoming steroid trials and that they have now applied for orphan status for Deflazacort. Annemieke is brilliant. I am always amazed at her ability to present data in a clear, concise, and balanced manner. Two of her colleagues from Leiden accompanied her with posters and presentations and I have to say, they too are brilliant (but I keep thinking they look like they are in high school).
• Presentations and discussion around the results, to date, of exon skipping trial, in the PMO, skipping exon 51 – 7/19 patients showed an improvement in dystrophin levels and only 3/19 patients responded strongly, with the conclusion that we may need higher doses than 20mg/kg.
• Dr. Griggs discussed the upcoming steroid trials and said they had applied for orphan drug status for Deflazacort. Finally! It is long overdue.
• Dr. Muntoni’s presentation included a discussion about the cost of therapies for rare diseases. A child diagnosed with Pompe and treated over a lifetime with Myozyme would cost an estimated $35 million dollars. Is there any wonder why advocacy is important?
• Dr. Bushby presented on Ataluren. Subanalysis suggests a trend toward benefit with low dose. Questions related to biopsy data were answered by Langdon Miller. Dr. Miller talked about the complexity of the biopsies, the number of surgeons performing the procedure, the orientation of the specimen, processing/shipping and collections to a central lab. Many of the specimens have freezing artifact. But they have not given up and will continue to work hard on the analysis in spite of the complexity.
• (poster sessions) Discussed the Dutch study on physical training in Duchenne and “no use is disuse,” as well as quality of life issues.
• Discussions around proactive cardiac care, insulin resistance and dissemination, and implementations of standards of care in Duchenne (Care Considerations).
Because there are so many meetings, and this one, just following PPMD’s Connect Conference, there was little ‘new’ news. I find that the side conversations are the most useful and I typically craft some strategic questions to ask and bring back to PPMD’s staff and scientific advisors. Questions such as:
• What do you see as gaps in clinical care?
• What do you see as barriers to therapies?
• What progress have you made in terms of measuring and validating patient-reported outcomes and do you plan to implement any of these measures as secondary outcome measures for upcoming clinical trials?
• Would it be possible to consider adding non-ambulatory patients (safety) once a registration trial was fully recruited?
• If there was one thing that you could do/change/support to move therapies forward, what would it be?
• Do you worry that there is a therapeutic misconception about what current therapies are likely to deliver?
• Do you have concern about access to emerging therapies?
And I ask for proposals, delivering them to PPMD’s leadership as we plan our strategy to End Duchenne.
Tuesday, July 27, 2010
A Bedtime Story
Who gets the award for finding the treatment or cure? I received this question over and over and yesterday again, in an email from a parent. She provided a list of each organization and what projects or companies they have supported. In my head, I wanted to say all of us, some of us, what does it matter as long as the drug is developed, the project funded. Her real question was –if I raise money for you, will you get ‘the cure’ for my son? My first thought was to say – ‘cures’ do not come from one group or organization, it does not work that way. Best guess for the cost of developing a new drug is right around the $800 million dollar range and I doubt that anyone would have that ability and/or want to invest every last dollar in a single program. You already know the numbers, 1 out of 8 compounds ever makes it to approval, so it makes sense that any number of investors come in at different times, sharing risk. I went to bed thinking about it, thinking how, for many of us who support research, the projects we fund feel like they belong to us somehow. The projects and the individual who run them become our children in a strange sort of way.
Let’s imagine you are considering having a child. You think of the options: the impact on your life, the impact on your budget, your job, and who you will need to call upon to help you with the baby.
(*novel project – intense review)
You are pregnant, thrilled of course, and take good care of yourself, trying your best to ensure a healthy baby.
(*early data)
The baby arrives, happy and healthy. Let’s call him Gregory. You find yourself overwhelmed. How in the world could someone so tiny take up so much time, cause so much fatigue. You are dead on your feet and need a break and while you love this little one, there are moments when you feel you are not going to make it. And then, there is that first fever, congestion, irritability. You panic. You are up all night watching him breathe. By morning, the baby is improved (why do they always get sick at midnight?) Aunt Betty/Gram or a dear friend walks in the door, hands you a gift certificate for a massage, followed by dinner, and you nearly run for your car.
(*bridge support)
Time flies. Children grow quickly, too quickly, and soon they are running around, under your feet and before you know it, they start school . Gregory enters kindergarten and after a short time, the teacher suggests Gregory is not interested in school, not interested in learning his letters or his numbers and well, by the sound of her voice, it feels like Gregory is not going to be successful. And he’s only 5! This type of attitude is a game changer and you are prepared for battle. This is Gregory, the crazy little man, talkative, smart and not at all what the teacher implies. You search for tools to help and find a wonderful tutor, who makes learning a game about pirates and dragons. Gregory not only learns to read, but begins to drive his family crazy sounding out every road sign and menu option at Burger King.
(*fellowship – additional staff to focus on the project)
Gregory’s parents relax as he seems to adjust well to the schedule and his teachers. Things come easily for Gregory, until 6th grade math. The thing is Gregory can do the work, but he seems preoccupied with sports, video games, and friends. Grades drop. Test scores drop and you know the rest of the story. Parents are upset and the teacher is not budging. Gregory’s parents try everything they can think of from incentives to discipline to pleading. Summer arrives and Gregory barely passes math.
(*some experiments fail, at least temporarily)
The summer was wonderful for Gregory. Nothing about school, but all about friends, swimming, soccer, and video games. His friend’s dad recommends a free on-line video game - Moonbase Alpha. Playing Moonbase Alpha is not simple. Gregory and his friends step into the role of exploration team members and are immersed in a futuristic 3-D lunar settlement. Their mission is to restore critical systems and oxygen flow after a nearby meteor strike cripples a solar array and life support equipment. Gregory is hooked: inspired and engaged in space exploration, learning about science, technology, engineering, and mathetics (STEM education).
(*Interim support? Tox package?)
Gregory is back! He now sees himself working for NASA and one day, joining the team to land on Mars. High school is uneventful. As graduation gets closer, Gregory starts to worry. His cumulative average is 3.5 and his first SAT score is verbal 560 and math 610, good - but not great in terms of his life goal and unfortunately, not quite good enough to get into MIT, and most certainly not the type of credentials he would need for a scholarship. Gregory is devastated. His dream of admission to the best college program that feeds into NASA’s space program seems pretty impossible. With tears in his eyes, Gregory talks to his Uncle Henry about his dreams, his goals, his apparent failure. Henry believes in Gregory, offers to do whatever it takes to help him improve his SAT and generously offers to pay his college tuition. Day and night Gregory prepares for the test. Gregory’s SAT scores improve: 620 verbal and 680 math. He is admitted to Rice College in Texas, a major feeder school for the NASA program.
(*Venture capital)
On a sunny day in June, 4 years later, Gregory walks down the aisle, lifts his arms to receive his Diploma from Rice and while Gregory felt quite prepared to walk on the moon, he realized he would need additional education and resources to step into an aerospace engineering position. Gregory agrees to an internship at NASA, spends time with a range of experts and finds mentors to guide his journey.
(*Partnering)
All this to say, drug development is not accomplished by one person, one organization, or one company. It is accomplished through hard work, vision, opportunity, investment, and ONE VOICE – all focused on a single goal. Every organization/foundation/parent/patient is reaching for the same goal. We all make investments for different reasons, at different times, with different goals in mind; sometimes to fill gaps, often to provide seed money, frequently at just the right time to keep things moving.
And lest we not forget about the seemingly non-sexy stuff such as promoting early diagnosis, accurate genetic testing, registries, standards of care, workshops to identify gaps in care, clinical trials (ambulatory and non-ambulatory) outcome measures, advocacy (NIH, DoD, FDA, HRSA), post market surveillance, and access to therapies… for all boys, everywhere.
No one can do everything, but everyone can do something.
ONE VOICE
Let’s imagine you are considering having a child. You think of the options: the impact on your life, the impact on your budget, your job, and who you will need to call upon to help you with the baby.
(*novel project – intense review)
You are pregnant, thrilled of course, and take good care of yourself, trying your best to ensure a healthy baby.
(*early data)
The baby arrives, happy and healthy. Let’s call him Gregory. You find yourself overwhelmed. How in the world could someone so tiny take up so much time, cause so much fatigue. You are dead on your feet and need a break and while you love this little one, there are moments when you feel you are not going to make it. And then, there is that first fever, congestion, irritability. You panic. You are up all night watching him breathe. By morning, the baby is improved (why do they always get sick at midnight?) Aunt Betty/Gram or a dear friend walks in the door, hands you a gift certificate for a massage, followed by dinner, and you nearly run for your car.
(*bridge support)
Time flies. Children grow quickly, too quickly, and soon they are running around, under your feet and before you know it, they start school . Gregory enters kindergarten and after a short time, the teacher suggests Gregory is not interested in school, not interested in learning his letters or his numbers and well, by the sound of her voice, it feels like Gregory is not going to be successful. And he’s only 5! This type of attitude is a game changer and you are prepared for battle. This is Gregory, the crazy little man, talkative, smart and not at all what the teacher implies. You search for tools to help and find a wonderful tutor, who makes learning a game about pirates and dragons. Gregory not only learns to read, but begins to drive his family crazy sounding out every road sign and menu option at Burger King.
(*fellowship – additional staff to focus on the project)
Gregory’s parents relax as he seems to adjust well to the schedule and his teachers. Things come easily for Gregory, until 6th grade math. The thing is Gregory can do the work, but he seems preoccupied with sports, video games, and friends. Grades drop. Test scores drop and you know the rest of the story. Parents are upset and the teacher is not budging. Gregory’s parents try everything they can think of from incentives to discipline to pleading. Summer arrives and Gregory barely passes math.
(*some experiments fail, at least temporarily)
The summer was wonderful for Gregory. Nothing about school, but all about friends, swimming, soccer, and video games. His friend’s dad recommends a free on-line video game - Moonbase Alpha. Playing Moonbase Alpha is not simple. Gregory and his friends step into the role of exploration team members and are immersed in a futuristic 3-D lunar settlement. Their mission is to restore critical systems and oxygen flow after a nearby meteor strike cripples a solar array and life support equipment. Gregory is hooked: inspired and engaged in space exploration, learning about science, technology, engineering, and mathetics (STEM education).
(*Interim support? Tox package?)
Gregory is back! He now sees himself working for NASA and one day, joining the team to land on Mars. High school is uneventful. As graduation gets closer, Gregory starts to worry. His cumulative average is 3.5 and his first SAT score is verbal 560 and math 610, good - but not great in terms of his life goal and unfortunately, not quite good enough to get into MIT, and most certainly not the type of credentials he would need for a scholarship. Gregory is devastated. His dream of admission to the best college program that feeds into NASA’s space program seems pretty impossible. With tears in his eyes, Gregory talks to his Uncle Henry about his dreams, his goals, his apparent failure. Henry believes in Gregory, offers to do whatever it takes to help him improve his SAT and generously offers to pay his college tuition. Day and night Gregory prepares for the test. Gregory’s SAT scores improve: 620 verbal and 680 math. He is admitted to Rice College in Texas, a major feeder school for the NASA program.
(*Venture capital)
On a sunny day in June, 4 years later, Gregory walks down the aisle, lifts his arms to receive his Diploma from Rice and while Gregory felt quite prepared to walk on the moon, he realized he would need additional education and resources to step into an aerospace engineering position. Gregory agrees to an internship at NASA, spends time with a range of experts and finds mentors to guide his journey.
(*Partnering)
All this to say, drug development is not accomplished by one person, one organization, or one company. It is accomplished through hard work, vision, opportunity, investment, and ONE VOICE – all focused on a single goal. Every organization/foundation/parent/patient is reaching for the same goal. We all make investments for different reasons, at different times, with different goals in mind; sometimes to fill gaps, often to provide seed money, frequently at just the right time to keep things moving.
And lest we not forget about the seemingly non-sexy stuff such as promoting early diagnosis, accurate genetic testing, registries, standards of care, workshops to identify gaps in care, clinical trials (ambulatory and non-ambulatory) outcome measures, advocacy (NIH, DoD, FDA, HRSA), post market surveillance, and access to therapies… for all boys, everywhere.
No one can do everything, but everyone can do something.
ONE VOICE
Wednesday, July 7, 2010
Conference 2010
I’m not going to recap the 30+ hours of presentations from this year’s Conference. We will soon post many of the presentations and Sharon will blog about various presentations and projects over the next weeks and months. I wanted to tell you a bit about what took place this year and look forward, to share some thoughts about next year… Already you ask? We spend a lot of time thinking about the Conference, trying to improve it each year, trying to make sure we provide comprehensive information to all stakeholders and working on all fronts in order to accelerate treatments that will stop the progression of the disease for all boys everywhere, that will end Duchenne. We have not yet decided on the specifics as in date/location, but we have had some conversations about the nuts and bolts.
Pat Moeschen’s keynote was amazing. Everyone attending the meeting jammed into the room and for the first time ever, no cell phone rang, no one was texting. We were all listening to Pat. I would like to say, Pat is the voice of reason, but he is more than that. Pat is the voice of joy, of laughter, of living a life. Both the expert and sibling panel were amazing as well, with full audience participation. It confirmed my belief that the voice of this community needs to be heard. Parents, Patients, Siblings. And that when this voice is raised, people listen. We will continue to raise these voices next year and the year after that and the year after that.
Breakout sessions. Caring for an individual with Duchenne is difficult and often requires decisions that we (as parents) never imagined we would be faced with. Spending time in small sessions, expressing concern, asking questions, learning from experts, assure all of us we are doing our best and more than that, we motivate researchers and clinicians to think out of the box, to understand this critical need. Amanda Becker said it exactly right in the breakout session on Ataluren. One father mentioned his son’s ejection fraction dropped 20% after discontinuing Ataluren. While there is no data to confirm a direct relationship, stopping Ataluren was the only change to his son’s regimen. As each person expressed their own experience with Ataluren and interest in participating in an access program, Amanda said that in her view any change, any loss of function and surely a change in the ejection fraction constitutes an emergency. PTC’s medical officer had never thought of Duchenne in that way. Duchenne is an emergency.
Duchenne Therapeutics Development Meeting (aka –scientific track). The room was packed and the talks intense, hopeful, promising. Some parents came away shaking their head and suggesting they were able to understand about 20% of what was said, but very thankful to have the opportunity to attend. Researchers/Clinicians agreed the meeting was successful, that a Duchenne Therapeutics meeting is important, but said they felt like they missed important sessions with parents. Parents had to choose and often felt torn, feeling the need to stay informed, but missing out on critical discussions relevant to their son’s life today. Next year’s plan will definitely include the Duchenne Therapeutics Development Meeting. We are exploring ideas about how to juggle things around a bit, which probably means adding more time to the meeting. Stay tuned.
Conference sessions felt nearly perfect – okay, I am biased. The early breakfast with Industry was informative, on both sides, as companies shared their experiences and addressed concerns. The plenary session included a broad range of topics, at first general (biomarkers, drug development, clinical trial development, multi-system trials, outcome measures) to very specific strategies such as exon skipping, utrophin, Lam iii, stem cells and viral gene therapy, and various cellular pathways involved in muscle degeneration.
The Levin family threw a lovely barbecue on Friday and by the Saturday gala, I think we were all a little foggy. The NJ staff had (nearly) killed themselves planning, preparing, and executing the Conference. Our brains were full of research, clinical care, friendships made and renewed…and HOPE. We awarded this year’s fellowship to Nick Dobes, who described his relationship with his friend Brian and one more time, we were reminded that our sons’ lives have a ripple effect throughout the community and the world and that all of us play a major role in advancing treatments. It was always obvious to me, but even more apparent when we are together, when we speak in ONE VOICE, we know we will change the world.
Looking forward to next year…
Pat Moeschen’s keynote was amazing. Everyone attending the meeting jammed into the room and for the first time ever, no cell phone rang, no one was texting. We were all listening to Pat. I would like to say, Pat is the voice of reason, but he is more than that. Pat is the voice of joy, of laughter, of living a life. Both the expert and sibling panel were amazing as well, with full audience participation. It confirmed my belief that the voice of this community needs to be heard. Parents, Patients, Siblings. And that when this voice is raised, people listen. We will continue to raise these voices next year and the year after that and the year after that.
Breakout sessions. Caring for an individual with Duchenne is difficult and often requires decisions that we (as parents) never imagined we would be faced with. Spending time in small sessions, expressing concern, asking questions, learning from experts, assure all of us we are doing our best and more than that, we motivate researchers and clinicians to think out of the box, to understand this critical need. Amanda Becker said it exactly right in the breakout session on Ataluren. One father mentioned his son’s ejection fraction dropped 20% after discontinuing Ataluren. While there is no data to confirm a direct relationship, stopping Ataluren was the only change to his son’s regimen. As each person expressed their own experience with Ataluren and interest in participating in an access program, Amanda said that in her view any change, any loss of function and surely a change in the ejection fraction constitutes an emergency. PTC’s medical officer had never thought of Duchenne in that way. Duchenne is an emergency.
Duchenne Therapeutics Development Meeting (aka –scientific track). The room was packed and the talks intense, hopeful, promising. Some parents came away shaking their head and suggesting they were able to understand about 20% of what was said, but very thankful to have the opportunity to attend. Researchers/Clinicians agreed the meeting was successful, that a Duchenne Therapeutics meeting is important, but said they felt like they missed important sessions with parents. Parents had to choose and often felt torn, feeling the need to stay informed, but missing out on critical discussions relevant to their son’s life today. Next year’s plan will definitely include the Duchenne Therapeutics Development Meeting. We are exploring ideas about how to juggle things around a bit, which probably means adding more time to the meeting. Stay tuned.
Conference sessions felt nearly perfect – okay, I am biased. The early breakfast with Industry was informative, on both sides, as companies shared their experiences and addressed concerns. The plenary session included a broad range of topics, at first general (biomarkers, drug development, clinical trial development, multi-system trials, outcome measures) to very specific strategies such as exon skipping, utrophin, Lam iii, stem cells and viral gene therapy, and various cellular pathways involved in muscle degeneration.
The Levin family threw a lovely barbecue on Friday and by the Saturday gala, I think we were all a little foggy. The NJ staff had (nearly) killed themselves planning, preparing, and executing the Conference. Our brains were full of research, clinical care, friendships made and renewed…and HOPE. We awarded this year’s fellowship to Nick Dobes, who described his relationship with his friend Brian and one more time, we were reminded that our sons’ lives have a ripple effect throughout the community and the world and that all of us play a major role in advancing treatments. It was always obvious to me, but even more apparent when we are together, when we speak in ONE VOICE, we know we will change the world.
Looking forward to next year…
Wednesday, June 16, 2010
Sunday nights.
Happens every time. Mom gets on the phone. Some light goes on and your children have a question or problem that needs immediate attention. "Let me call you back."
Same with acute illness. It’s Sunday evening and you wrap up the weekend. And suddenly, your little one complains. Sometimes it is a stomach ache, easily explained by a weekend of activity and a little too much of something. Other times, it is more serious, something you cannot put your finger on, but you have the sense that this is more than you can handle.
On Sunday evening, Jen - a PPMD mom and a friend - called me. Danny was complaining of chest pain. He just celebrated his 8th birthday and in our head, should be too young to connect this with cardiac anything. But then, he has Duchenne and we have learned anything is possible. We have learned that we need to know a lot more than we do about Duchenne hearts. We have learned not to ignore the complaints of our son. While we were on the phone, I could hear Danny cry, but the cry had a little squeak to it and I felt a certain panic creeping in. It was the sound that occurs when people (adults and little ones) make when they are short of breath. We talked about the last few months, rapid progression, weight gain, going off GH and then resuming. We talked about diet, activities, fatigue, increased weakness. Jen mentioned an irregular heartbeat. If I was there, I would wish for a stethoscope or put my ear on his heart in an attempt to diagnose the rhythm. Jen and Dan left for the hospital with Danny.
In the meantime, I called our experts, Linda Cripe, Larry Markham, and Brenda Wong. Linda called immediately. Larry emailed me a bit later. We discussed the events leading up to the chest pain, discussed the last few months. And while this was later considered a ‘cardiac event’ - it was not a heart attack and not congestive heart failure - what did it mean?
The truth of the matter is that we just don’t know. Danny’s troponin levels were elevated. Troponin tests are ordered for people with chest pain, to see if they have had a heart attack or other damage to their heart. Troponin tests are used to detect and evaluate mild to severe heart injury. Normally, cardiac troponin levels are so low that they cannot be measured and in instances where there has been a heart attack, sometimes remain high for 1-2 weeks after. The test is not affected by damage to other muscles. Danny’s troponin levels increased. CK-MB also increased. CK-MB is a more sensitive marker for myocardial injury that total CK activity because it has a lower basal level and a much narrower normal range. CK-MB levels become elevated in 4-6 hours after a heart attack and peak at 10-24 hours. CK-MB measures small, but significant changes during the early hours following onset of chest pain. But here’s what we do not know. We did not have baseline tests. Trophonin and CK-MB are not done with the typical evaluation, so there is no baseline. We don’t know where Danny’s levels started, we simply know they increased. His echocardiogram was unchanged from previous.
What we can say is that Danny had a cardiac event. There was no damage to the heart. Echo was unchanged. And levels decreased.
Here’s the take-away message.
Same with acute illness. It’s Sunday evening and you wrap up the weekend. And suddenly, your little one complains. Sometimes it is a stomach ache, easily explained by a weekend of activity and a little too much of something. Other times, it is more serious, something you cannot put your finger on, but you have the sense that this is more than you can handle.
On Sunday evening, Jen - a PPMD mom and a friend - called me. Danny was complaining of chest pain. He just celebrated his 8th birthday and in our head, should be too young to connect this with cardiac anything. But then, he has Duchenne and we have learned anything is possible. We have learned that we need to know a lot more than we do about Duchenne hearts. We have learned not to ignore the complaints of our son. While we were on the phone, I could hear Danny cry, but the cry had a little squeak to it and I felt a certain panic creeping in. It was the sound that occurs when people (adults and little ones) make when they are short of breath. We talked about the last few months, rapid progression, weight gain, going off GH and then resuming. We talked about diet, activities, fatigue, increased weakness. Jen mentioned an irregular heartbeat. If I was there, I would wish for a stethoscope or put my ear on his heart in an attempt to diagnose the rhythm. Jen and Dan left for the hospital with Danny.
In the meantime, I called our experts, Linda Cripe, Larry Markham, and Brenda Wong. Linda called immediately. Larry emailed me a bit later. We discussed the events leading up to the chest pain, discussed the last few months. And while this was later considered a ‘cardiac event’ - it was not a heart attack and not congestive heart failure - what did it mean?
The truth of the matter is that we just don’t know. Danny’s troponin levels were elevated. Troponin tests are ordered for people with chest pain, to see if they have had a heart attack or other damage to their heart. Troponin tests are used to detect and evaluate mild to severe heart injury. Normally, cardiac troponin levels are so low that they cannot be measured and in instances where there has been a heart attack, sometimes remain high for 1-2 weeks after. The test is not affected by damage to other muscles. Danny’s troponin levels increased. CK-MB also increased. CK-MB is a more sensitive marker for myocardial injury that total CK activity because it has a lower basal level and a much narrower normal range. CK-MB levels become elevated in 4-6 hours after a heart attack and peak at 10-24 hours. CK-MB measures small, but significant changes during the early hours following onset of chest pain. But here’s what we do not know. We did not have baseline tests. Trophonin and CK-MB are not done with the typical evaluation, so there is no baseline. We don’t know where Danny’s levels started, we simply know they increased. His echocardiogram was unchanged from previous.
What we can say is that Danny had a cardiac event. There was no damage to the heart. Echo was unchanged. And levels decreased.
Here’s the take-away message.
- Kids (all of them) get sick when we feel least prepared or connected.
- No matter where you take your son for care, take home information about the hospital’s emergency system. All hospitals have contact information on the doctors – home phone, mobile phone. Cincinnati Children’s is developing a card with exactly this information – it will be given to every patient/family.
- If you take your son to the ER, ICU, CCU, hospital (anywhere), insist that the doctor connect with his Duchenne doctors. I realize that this request may not sit well with the ER doctor …. Excuses “I treat kids all the time, this is a busy ER, I have heard about Duchenne, I know about steroids,” but this just does not cut it because we know Duchenne is very complex, that there are few experts in the world and likely none at the ER near your home, and that there is significant clinical variability (each child is different). And the heart is a muscle too.
- Cardiac workshop. We held a cardiac workshop several years ago to discuss what we know, what we need to know, and what we might do now. We are interested in proactive care, hopefully to prevent, slow, or stop dilated cardiomyopathy.
- Advocacy. We are working on a pilot telemedicine project – hub and spoke – to connect experts to families /doctors. As clinical trials open in the US and elsewhere, close connections need to be in place for those very late nights.
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