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September 24, 2007
Grief and Anticipatory Grief. – Waiting for the other shoe to drop.
It happens the day of diagnosis. The physician walks in the door and explains Duchenne, the pathology of the missing structural protein and the progression of muscle degeneration and… describes what might happen. If your physician is up-to-date, the discussion will be followed by information about research and upcoming clinical trials. Hope! Of course things are changing (and they are) BUT you will worry about what you see this very moment in terms of muscle weakness and whatever it is that was described as changing, wondering if it will change fast enough to impact your son, to change his predicted outcome, to stop progression so that you see no further weakness.
Anticiipatory Grief… waiting, watching, worrying… it sets in that very first day and plants itself in your heart and mind. From that day forward you will notice your heart is heavy, unsettled, anxious… waiting for the next shoe to drop. Anticipatory grief… It scares the crap out of you and unfortunately, this feeling about the ‘other shoe dropping’; this feeling of anticipation, that more things will go wrong in your life will stick to you. It feels like walking through spider webs. It sticks to your hair, your clothes, and your heart. Over time, you will learn to quash some of these cobwebs, but new ones will grow. On certain days, you will be quite capable of managing, on others not at all... .
The diagnosis puts you dead center in the midst of a tornado, foreign words swirling around you and you falter. Maybe you fall. Who will catch you? It is pretty clear; at least some of your family members have no clue. Often they make sounds like “it will be all right’ or ‘God only gives as much as you can stand†or “you are strong’. Of course you aren’t strong, who is? And if God was paying attention, He (or She) would not have given you this in the first place. Your heart is breaking and you cannot breathe. Running away sounds like a really good idea but where will you run? And what would happen then? To your son? To your family? To you?
Where is the lifeline? Who should you turn to? One Google search provides 5000 or more links to information, to research and sometimes to snake oil promises. How are you going to sort through all of this? Your wish your partner understands, but he or she seems to be at another place, thinking thoughts far different than your own. It’s like watching a football game from different places in the stadium – you see and feel different things-at different times. Your view is significantly different from everyone else at any given time. The word frustrating hardly seems to capture what you feel.
When my boys were diagnosed, my husband concentrated his energies on how our house might be adapted. I was out searching for treatments, a cure. I thought he was crazy. I’m certain he thought I was off the deep end. I thought he did not believe in my ability to find help. I wondered why we were together and I wanted him to leave. I’m sure he felt the same. Two different places, grieving in different ways but focused on the same picture, hearts breaking but not breaking in the same spots..
Grief must be recognized. It is very individual and each individual has different responses and different ways of manifesting his/her grief. This is sometimes interpreted to mean a certain individual does not care or does not care enough. And to add insult to injury, there is anticipatory grief…the belief you are on a certain trajectory, that more grief will find you, will hunt you down.
On September 11, 2001, I landed in Washington DC around 7:30 AM. I flew in from Seattle and recall thinking the airport strangely silent. I felt something, some unknown something, a storm coming. I went to my hotel, located near the Pentagon. It felt like slow motion as I entered, TV on in the lobby replaying that first plane hitting the Tower and then another hit. I felt the hotel move and later realized I felt the impact of the plane hitting the Pentagon. My daughter Michelle lived in NY, 5 blocks from that first Tower. I called and called. No answer and then no reception. Anticipatory grief. Was this the other shoe… I won’t ever forget that moment or that day. 5 hours later, hearing her voice was the defibrillator, restarting my heart. I think my heart did stop that day and I will admit to a great deal of what my family would refer to as needless worry. In fact, I may be an expert when it comes to worry.
It should come as no surprise that you are not alone. That grief, grieving, anticipatory grief come with the territory. Grief, one of those elephants that litter up rooms, dampen our spirits, impact celebrations, make life events bittersweet and make smiles often seem halfhearted.
Comprehensive interdisciplinary care for families. It is essential for all of us and should be introduced on Day 1... DMD is a family disease. It affects everyone it touches and Counseling is fundamental to insure quality of life for your son, for you, for your partner, for your family. Duchenne is not something you can tackle alone...
Posted by ppmd at 12:57 PM | Comments (0)
September 20, 2007
DUCHENNE CONNECT
How are you or your son doing compared to other young men the same age? What medicines are they taking? Will you hear about every upcoming clinical trial? What does industry need to become interested, to consider working on Duchenne, to facilitate trials in Duchenne? How will physicians without expertise in Duchenne learn to treat Duchenne? Information needs to be available and accessible and in one place.
Approved treatments require clinical trials. Phase I is safety. Phase II is safety and to some limited degree efficacy (short term) and Phase III long term efficacy with the goal of an approved therapy. Trials in rare disease will not involve the huge number required for instance in heart disease, but they will require sufficient numbers to demonstrate benefit. Regulatory agencies will not approve a drug until there is substantial evidence in a significant number to demonstrate benefit. And there is the ‘what does benefit look like question, but that is a topic for another day). . Where are the patients? Which ones will fit the criteria? How will industry get a sense of how many individuals might take advantage of a certain therapy? Where are the best sites for trials?
For the last years, PPMD has had a cooperative agreement with CDC (center for disease control). This remarkable opportunity has enabled us to develop an awareness campaign for early diagnosis, educational materials and this year a patient (self-report) registry.
This Duchenne/Becker patient registry (DuchenneConnect) will be ‘live’ on October 1. Patients or family members registering their son will register on site and be asked to answer specific questions, a core set of data elements which coincides with common data elements within the TREAT NMD, the international clinical trial network. In addition, we are working with Emory Genetics to insure mutation data entered is validated. In instances where a patient has not had genetic testing or if the genetic testing was done more than 5 years ago, the Clinical Coordinator will assist in securing genetic testing. If you have questions about genetic testing, you will have the ability to speak with a genetic counselor. Data entered into the registry will be de-identified (all personal information removed) and these data will be available on-line for patients, family members, physicians, researchers, industry, policy makers, any interested party to mine these data.
It will be a global registry, translated into many languages. The site will evolve to include educational materials explaining genetic testing, surveys to assess needs and quality of life. It will provide parents/patients opportunities to understand how they or their son’s regimen or progression compares with other individuals. The site will be interactive - Families who participate in this registry will be ‘pinged’ to update the data entered so that we have longitudinal data. The site will be integrated with www.clinicaltrials.gov so that patients/families will be notified when and where clinical trials are taking place and have the ability to connect with sites participating in the trial.
We also recognize the need to have clinical data and to that end will add a feature that enables patients/family members to send their data to a specific clinic or doctor. And we are working with MDA to discuss mechanisms to integrate clinical data. We want this to be a resource for the global community. The name is specific… DuchenneConnect.
It is progress… one stop shopping and hopefully a neon light to physicians who care for DMD patients, to families and researchers and to industry suggesting DMD is a cohesive community, a responsive community, interested and willing to participate in clinical trials and approachable. The Duchenne community is ready. Seems we have waited a long time, a very long time. It is now time to end Duchenne.
Posted by ppmd at 09:24 AM | Comments (0)
September 18, 2007
Eye exams and clinical trials.
Last week was my annual eye exam and I found myself wishing developing treatments for DMD could be done so easily, so quickly and work so well. Of course eye exams are fairly routine. They start off quite slowly - close one eye and then the other and read the letters projected on the distant wall. I was instructed to continue reading each line as the letters became smaller and more difficult to visualize. This is the starting point –the ‘trend’ in a manner of speaking to give some very basic information about vision. Things get a bit dicier once the doc arrives and dilates my eyes. First off, it drives me over the edge for anyone to get near my eyes. I start to tear immediately and I find myself already dreading the part where I walk out of the office and into the sunlight realizing that sunglasses and squinting are not going to be sufficient to change the blurred vision.
The drops are in and the room dark. The fun begins. With my chin positioned in the headrest, I begin to stare into the tiny telescopic apparatus. My left eye is covered and the doctor begins to flash a series of lenses before my right eye. “Better or worse, Better or worse†in rapid succession. He ran through a series of lenses and at a certain moment, it was pretty clear he decided he had found the perfect lens in exactly the right strength to correct the vision in my right eye .With this lens, he assured me, my right eye would be normal, 20/20. The whole procedure was repeated, this time covering my right eye. “Better or worse, Better or worse†with a few “oh the left eye is a bit worse†in between as he again ran through the series of lenses. There were times when I found it a bit difficult to figure out if one lens was indeed better or worse and had to ask him to repeat, finding it impossible to discern such very slight differences. After some trial and error, he figured out the left eye as well.
Now the real trick, putting it all together and making sure the right and left correction would result in improved eyesight. Turns out, my vision had have additional corrections because my brain has dome it’s share of accommodating as well and in order to improve vision, both eyes needed to figure out how to work together.
I admit I was distracted during the exam, wishing it was this easy in DMD, where individuals with DMD could go to their physician, ‘try on’ a series of strategies in order to determine the exact combination, the exact formula that would slow/halt muscle degeneration or potentially repair a certain mutation and put an end to Duchenne’s progression., “better or worse, better or worse†until exactly the right formulation could be put in place. I wish it was that simple.
There are certainly a number of promising strategies on the horizon. It is exciting all at once to imagine and then frustrating to wait and wait and wait again. The ‘when’ question that is tattooed on our forehead on the day of diagnosis.
When researchers suggest a combination of strategies, we all nod in agreement, like it will be easy… Sure, that makes sense, right? Some have already suggested specific combinations of drugs that may stop progression but it is actually only guessing and as Victor Dubowitz would remind all of us, mice are not people. The mdx mouse will give us clues, the dog perhaps better clues but it is only with human studies that we will begin to understand.
The inherent difficulty in Duchenne is that while certain aspects of the disease are predictable, there is a great deal of individual variation, just ask another parent with a child the same age. Progression is not uniform in individuals or in certain mutations and this individual variability based on genetic modifiers will require a combination of strategies, perhaps at different points in the disease progression, perhaps different for different individuals who, for reasons that may be impossible to explain, do not respond to a certain approach. Clinical trials. Clinical trials are not synonymous with treatment; rather clinical trials provide the vehicle for us to understand IF a certain strategy provides benefit and characterize exactly what ‘benefit’ means. .
It just isn’t simple and because it isn’t straightforward or simple, PPMD has a developed broad research agenda (drug discovery on validated targets, planning clinical trials on protease inhibitors, anti-fibrotics and growth hormone replacements, upregulation of nNos to improve circulation to muscle, investigating ways to slow or halt muscle degeneration with HDAC inhibitors, upregulating Utrophin in transcription and translation (mRNA), working to accelerate the development of an international clinical trial network, a global registry and the model for care. Did you know PPMD’s legislative strategy has leveraged $200 Million dollars in muscular dystrophy research? Like the eye exam, coordination is essential if we are to accelerate the development of treatments for your sons, for this generation of boys. It is simply not sufficient to invest in research.
I wish it was as simple as an eye exam – invest money in a strategy and you get an answer. The real fact is that the only way to accelerate the development of treatments is to invest in a comprehensive plan to accelerate research, develop a system to identify patients, collect specific data, organize clinical trials in the context of an international clinical trial network and pursue an aggressive legislative agenda to insure successful treatments can be delivered to all individuals and accessed over a lifetime.
Posted by ppmd at 11:41 AM | Comments (1)