« March 2008 | Main | May 2008 »
April 24, 2008
How much protection is too much protection?
I want to throw some thoughts out here for consideration.
When my sons were diagnosed, I wanted to protect them, insulate them from too much knowledge about their disease, from anyone saying the ‘wrong thing’, from kids (and adults) who have not developed a filter between their brain and their mouth. I called Duchenne every name in the book but Duchenne. I called it ‘weak muscles’, ‘tired muscles’. My parents referred to Duchenne as “the problem” and to this very day my 91-year old mother will ask the question “do they have a child with the problem?” It still makes me nearly insane when she says it. I want to scream – call it Duchenne damn it. It is an elephant that sits in the room, on the table, in the car. This elephant is present at every family gathering and every holiday. It sits on my desk and often feels like my shadow. I’ve talked about this before and I think about it a lot, certainly each time I hear someone refer to IT as “the problem.”
I completely understand the need to protect our children and to this day, I would like my daughters to check in with me each day, tell me where they are going and who they will be spending time with, and call ME if they need something… anything. They don’t. OK, OK they are no longer children. They are 31 and 33, but our children are our children forever, right? And I realize the conversation is much more difficult because we are talking about young children who are fragile and breakable.
Boys (and some girls) with Duchenne are going to grow up, have careers, and make choices and decisions. They will need to be independent and the only way to achieve independence is to start the process when they are young. It is a learning process. There is no wand, that at a certain age, we wave and they are infused with independence. If it is not encouraged from the start, it will not develop. And we have every reason in the world to make excuses about why and how WE should be their impenetrable shield. But we cannot expect that we can protect them from every harsh word, every piece of information, every hurtful thing, even if we keep them isolated at home. There is no protective bubble that is able to cover a lifetime. And what if (God forbid) you become ill? What then? Should our boys be treated so delicately?
Mothers are guilty of overprotection. I think it is a commandment, written somewhere or handed down in some ancient text. Or do we have some need to make ourselves irreplaceable? Are we trying so hard to make believe life is perfect that we stifle our sons - we stifle ourselves – in the process?
Last year we worked with Cincinnati Children’s to develop a focus group. We separated adolescents from young adults. Moms were in another room, separated into ‘mom groups’ by the age of their son. The conversations were interesting. The boys were happy, loved school, could say the word Duchenne out loud, no tears, just matter of fact. Their conversations concentrated on things they enjoyed, weekend activities, sports…regular stuff. The moms expressed worry, fear, and talked about the future. They seemed to know everything about their boys and were their self appointed spokesperson. The moms were consumed with Duchenne. Duchenne invaded every thought. They felt guilty and overwhelmed with the heavy weight they were carrying. Most expressed the desire for time away and immediately said they felt immensely guilty about having such a need.
They talked about the fact that they were the sole caregiver. That their partner (husband, boyfriend, significant other) was either not around, did not know what to do or how to do it, or did not seem to care enough. I remember feeling this way.
Several weeks ago, I was speaking with the father of a 16-year old son. He told me that his wife was the only one who could care for his son – no one else was needed or wanted. He had been shut out so many times, he no longer tried.
This is just food for thought. As mothers, our goal is to protect our children. If they were trees in a forest, we would be sitting up so close, we might only have a view of the bark, but we assure ourselves we have totally covered our young sapling so that nothing, not sun, rain or wind, will threaten his existence. We are the single source of his information, his needs, his wants, and his desires. We know this young sprout so well, that we are capable of predicting what he needs and when he needs it, better than anyone.
So my questions are simply food for thought. Please do not view them as criticism, indeed they are simply reflections of things I experienced in my desire to protect my boys (and girls). Looking back, I often worry that we all might have been better off if my beautiful boys were encouraged to be more self-confident and self-assured. I guess I will always wonder.
Would the boys benefit from knowing the name of their illness? To be honest, I think I was the one who could not say Duchenne out loud without crying.
Would they benefit from being able to talk about their illness with others – siblings, peers, parents, extended family?
Are we willing to say the word Duchenne out in public? In our home?
Do the boys really understand more than we realize and actually protect US?
Do we encourage social isolation and dependence by becoming the sole caregiver? Are we able to ASK others for help with caregiving and refrain from criticizing about variations in methods? Do we think it is too much trouble to ask others to help because we have to provide some guidance and that will take time, too much time, and they will probably do it wrong anyway?
Are we using our primary caregiver status as an excuse to hide from others or cut off other relationships?
Do we take over conversations? In the doctor’s office? At restaurants? At school?
Are we really able to shut out the world and do we really want to?
Do we feel guilty (like we have nothing to add to the conversation) or jealous when friends/family discuss holidays, sports, healthy children?
It is frustrating, I realize, to have to explain Duchenne, to have to explain why your son cannot keep up, why the scooter, why the wheelchair. It is horribly frustrating when the first words out of someone’s mouth are to compare Duchenne to MS or to someone else’s child who has some other condition. It is enough to make you crazy, when someone says “I know just how you feel” and you know they don’t have a clue. You want to scream something horrible and run when that happens. Sometimes it is just feels easier to hide.
Duchenne is changing. Individuals with Duchenne (our sons and some daughters) will grow up, will go to college, will have careers, and will have relationships. Expect it and prepare for it by trying your best to roll back the protection. Sun, Wind, and Rain are all essential for growth and so are our experiences – bad ones, awkward ones, heartbreaking ones. If you try, I think you will also find other experiences – wonderful, tender, happy, and some bittersweet. Hopefully those good experiences will begin to outnumber the hard ones.
Covering your young tree might seem useful, easier somehow, but it will not prevent difficult days. It will imprison you, your son, and your family. You might find uncovering the tree may open up your eyes to a beautiful forest.
Posted by ppmd at 09:06 AM | Comments (0)
April 16, 2008
Curation Workshop – Genetic Testing
The purpose of the meeting is to ensure patients have complete genetic testing, that data is collected and curated (validated) in a rigorous way, and make sure patients/families are informed and eligible to participate in upcoming clinical studies.
Participants
Utah – Bob Weiss, Kevin Flanigan, Payem Soltanzadeh, Neo May
Emory – Andy Faucett, Madhuri Hedge, Ken Loud, Vanessa Miller, Madhuri Hegde
Hospital for Sick Children – Canada Peter Ray
Treat NMD – Sarah Baumeister
PPMD – Giovanna Spinella, Pat Furlong
PPMD Canada – Kelly Lail
Treat NMD registry in an international database that includes more than 20 registries around the world, with www.duchenneconnect.org as one of the participating patient self-report registry partners. The goal of the database is to identify patients for participation in clinical trials.
Once registered on www.duchenneconnect.org, a downloadable summary page will be available to patients/families containing information related to optimal care for discussion with physicians/health care professionals.
The purpose of this global database is expected to be the ‘one stop’ for data access and for access to and participation in clinical studies on the horizon. Potential industrial partners would apply for access to these data. They would receive a response within 14 days, but must have IRB and an ethics board in place.
When to retest? Genetic testing is complex. In recent years, testing methods have changed dramatically and we now have the ability to understand a great deal more about specific mutations. While we cannot draw a line in the sand about testing and suggest that genetic testing that was done a certain number of years ago or a specific method of testing was incomplete, it is important for patients/families to recognize that if there is a clinical diagnosis of Duchenne, a mutation should be identified. This means, if genetic testing for you or your child was done some time ago and no mutation was found, it is important to consider retesting. New testing methodologies (CHIP/SACIP) are currently able to identify nearly 100% of all mutations. It is also important to understand that testing WILL NOT change the clinical diagnosis, but it is important in terms of entry criteria for international databases, as well as some, clinical trials. MDA has announced a genotyping campaign. This means they will cover expenses related to testing if insurance will not cover. If you have questions about testing, if your son has not had any testing, or if your son needs retesting, register on www.duchenneconnect.org and connect with online genetic counseling services and discuss whether repeat testing is necessary.
Posted by ppmd at 10:21 AM | Comments (0)