Declaring February 28, 2009 Rare Disease Day in Hawaii
Hawaii has a beautiful tradition of cherishing our keiki, so it is disappointing that our state officials have chosen not to join 29 other states in declaring February 28, 2009, Rare Disease Day in our state. As part of a global effort, the National Organization for Rare Disorders (NORD) coordinated a campaign to encourage governors across the United States to proclaim the last day of February Rare Disease Day. According to the National Institutes of Health (NIH), rare diseases are defined as affecting fewer than 200,000 Americans. There are almost 7,000 rare diseases that affect close to 30 million Americans, many of them children.
As a director of Chromosome Disorder Outreach, a non-profit organization that provides information and support to families affected by rare chromosome disorders, I wrote a letter to Governor Lingle explaining the purpose of Rare Disease Day and requesting that she recognize this important day in Hawaii. I first emailed my letter to Governor Lingle with no response. I sent it to her a second time, at which time I copied it to Lt. Governor Aiona’s office. One of his staff telephoned me hours after receiving my email to say that they had forwarded it to the Constituent Services Office. That office never contacted me, so I sent the same letter again to Governor Lingle, Lt. Governor Aiona, and the Constituent Services Office. As I write this letter, it is now February 26, so it appears that time has run out.
Rare diseases affect our children here in Hawaii. My daughter, Cayli Pualani, was not diagnosed with a rare genetic disorder until she saw specialists on the mainland. She had suffered from seizures, a severe language disorder, and sensory integration issues with no satisfactory explanation, until a blood test determined she is missing part of her third chromosome. We are among the lucky ones; at least we have a diagnosis. Many children suffer multiple medical concerns for years without a reason why. Understandably, this can be an incredibly stressful situation for a family to endure.
Increased awareness of rare disorders is necessary to enable doctors to properly diagnose them in a timely manner. This would lead to the development of effective and appropriate treatments for these conditions. My hope was that recognizing February 28, 2009 as Rare Disease Day in Hawaii would help accomplish this goal.
Available at:
http://www.hawaii247.org/2009/02/27/declaring-february-28-2009-rare-disease-day-in-hawaii/
and (in an edited version) at:
http://www.honoluluadvertiser.com/article/20090304/OPINION02/903040370/-1
Complex Care Management
Sarah Johnson Carter, BBA, JD
June 10, 2008
Children
with chromosome abnormalities often have medical issues that are
complicated to manage and costly to treat. The caregivers of these
children may be understandably overwhelmed by the number of problems
that a child has and the host of providers needed to treat them. A
caregiver may feel unknowledgeable about the details involved in
overseeing such an important task, may be too busy to devote the time
necessary to spend on hold with insurance companies and billing
offices, or may want a professional to ensure that he or she is doing
everything that needs to be done for the child’s optimal health. In
some situations, a child’s pediatrician may be willing and competent
enough to act as the manager of the child’s care. Sometimes, however,
that doctor may feel unable to dedicate the hours necessary to
accomplish the job or be relatively unschooled in the serious and
unique conditions that can affect children with rare genetic
disorders. So to whom does the job of complex care manager fall? By
default, it ends up being the responsibility of the caregiver, usually
a parent.
Wait; hold on a second, that’s me! But I’m not a
doctor, nor do I play one on TV. But I should be the one to make sure
Cayli’s doctors communicate with each other to eliminate conflicts? I
should know all the different therapies available to combat language
delays and sensory issues? Am I qualified for such an incredibly
important position? Seriously. I am still wracking my brain to
remember my high school sophomore biology class so I can recall the
problems that can occur during cell division and the function of mRNA.
And, while I can easily have an intelligent discussion on the state of
zoning and land use laws in Hawaii, I find it much harder efficiently
explain Cayli’s disorder to a stranger in comprehensible language.
It’s bad enough that they sent me home from the hospital with a newborn
and without that elusive parenting manual. Now they are going to allow
me to manage the care of a child with potentially fatal medical
problems and issues serious enough to significantly reduce her ability
to function in the world? Hey, while I’m at it, why didn’t they send
me up to fix the faulty lavatory in the space station? I don’t really
know who “they” are, but they should have their heads examined!
Big
projects have project managers, like a wedding planner, or a
construction foreman. That one person is in charge of delegating tasks
to the most competent people available. The manager then makes sure
that those people do their jobs properly without interfering with any
other aspect of the project. It is usually helpful for the right hand
to know what the left hand is doing. In some of our situations,
however, it seems more like keeping track of an octopus and its eight
arms! There must be a complex medical care version of this project
manager, right? Someone who has an “in” at a certain office, or knows
what to do when the unexpected happens (or better yet knows what the
unexpected could be), or knows the best place to find those much needed
medical supplies, or knows which doctors’ offices have terrible waiting
times and incompetent billing departments, or knows what that
prescription really does. You know: someone who has “people,” someone
with connections, someone who is on your side- working for you and your
child. Of course such a person exists, right? Of course! There are
individual doctors, divisions of insurance providers, and even entire
companies that manage complex patient cases.
So sign me up,
where do I find one? Hmm…as it turns out, that could be tricky. It is
much easier for me to find a wedding planner to help me choose between
stuffed mushroom caps and bacon-wrapped scallops than to find someone
to help me choose between pediatric neurologists. Fantastic! Okay,
but with the tenacity that parents of unique children seem to share, it
is not a lost cause. Talk to your child’s pediatrician or therapist,
your ECI caseworker, your insurance company, your pharmacist, your
child’s school, or a doctor or social worker at your local children’s
hospital. Medical costs can be reduced when complex care is managed
properly, so insurance companies may actually be helpful! Ask other
parents that you see at schools, hospitals, and medical offices. I
learned about this concept on the CDO Listserv. If all else fails,
fall into the welcoming arms of Google!
In the
meantime, request and keep a copy of all medical documents-test
results, surgery reports, etc. Then you won’t have to fight with the
hospital’s medical records department when your child’s new neurologist
wants to see the results of previous EEGs. Try to have one doctor keep
a copy of everything too; my daughter’s pediatrician is fantastic about
this. Build a solid relationship with your pharmacist so he or she can
help you watch for funky drug interactions or side effects and let you
know when new drugs come on the market. Talk to other caregivers, it
constantly amazes me how much precious information I find out only from
the “nonprofessionals.” The good news is that managing complex patient
care seems to be an emerging industry. Even if you can’t find a
complex care doctor or manager in your area now, keep an eye out for
one in the future.
Get it Straight!
The Meaning of the Word "Delay"
Sarah Johnson Carter, BBA, JD
April 29, 2008
My random pet peeve of the month is the inaccuracy of the term “development delay.” Is this the most urgent concern on my life? No, but I did have my daughter’s future mapped out (okay, so I a little bit of an over-planner), because of its implications. Cayli was labeled as “developmentally delayed.” In my mind, this meant that if we worked really hard and took some extra time learning things, she would eventually catch up with her peers and reach the “normal” level of development. After all, that is what “delay” means, right? That some specific event will inevitably happen at some future time? Apparently, not so much, as I learned at a recent appointment.
Here is an instance in which it would be correct to use the word delay. I am at JFK waiting for my fabulous, first-class, London-bound flight to depart. Unfortunately, I have to endure a two-hour departure delay because the mini bags of pretzels are still being loaded onto the plane (I am aiming for the least alarming possibility here). However, in the end, it all works out okay. Even though I miss High Tea at the Ritz (whatever, cucumber sandwiches must be overrated), I still make my dinner reservation at Gordon Ramsay’s (fabulous, but slightly scary). So, the delay was inconvenient and required me to make some adjustments, but I arrived at my intended destination within a reasonable amount of time and the vacation was a success.
Here is a situation in which delay would be a hopelessly inaccurate word: same scenario as above, except that the plane takes off on schedule. After enjoying my complimentary mimosa and reclining my chair to get some sleep, the pilot announces over the loudspeaker that indeed, the mini pretzels were left in New York, and we have to land in Iceland in order to avoid a revolt in the coach section of the airplane. Alas, Iceland does not share our penchant for miniature packages of salty carbohydrates. Completely out of options, the pilot flies the plane back to New York. Was my plane delayed? Um, no: that was the only thing that went right (aside from the mimosa and reclining chair). Was my vacation delayed? Nope-I never reached my destination. The vacation was interrupted, suspended, terminated, whatever-just not delayed.
Someone suggested to me that doctors began using the term “developmental delay” to avoid using bleak terms like “mentally retarded.” I know some people like to hear sugarcoated versions, but I need medical professionals to give me a truthful picture of reality. If it is necessary to find a politically correct term to use, fine: just make it the right one. I would like to save myself a decade of frustration and false hope and deal with reality now. Please don’t tell me my child will make it to London when she will most likely only reach Iceland (no offense, Iceland-I hear you are a beautiful country). I would just like to know my probable destination so I can pack accordingly.
It’s Our Turn: Learning to Cope with Our Feelings About Raising Unique Children
Sarah Johnson Carter, BBA, JD
January 21, 2008
Cope: come to terms or deal successfully with (as defined by WordNet-Online).
As
a rookie in the world of parenting a child with a rare chromosome
disorder, I am not in an optimal position to give advice. I would,
however, like to get some advice: some advice on how to cope. When I
say this, I am not talking about coping with my child (which is another
article entirely); I am talking about coping with myself-my feelings.
Not only do parents not receive a manual on how to handle the issues
that their children with rare chromosome disorders face (which is bad
enough-it would be ever so helpful); there is hardly anything brought
up about how parents are supposed to deal with their own emotions.
It
is easy to get caught up in the day-to-day chaos that goes along with
parenting unique children. Sometimes, after falling into bed at night
(if we are lucky enough that everyone else has settled down), parents
are left alone with thoughts running through their minds…
Could I have prevented this?
There must be some mistake…
Is my child being punished for my transgressions?
Should I have spent more time hoping for a “healthy” baby rather than a “male or female” baby?
Can I make it through tomorrow?
Am I strong enough to handle this?
Am I doing my absolute best for my child?
What will the future hold?
And the inevitable:
Why me?
What if…?
If only…
Everyone
has a different way of coping with these and similar feelings. Some
parents may cry, some may become enraged, some may retreat into denial,
and some may spring into action and never stop. Is there a right way
to cope? If so, what is the wrong way? Sometimes, at our lowest
moments, it doesn’t matter; we’ll take any way that works. Obviously,
parents play very important roles in caring for their children, so it
stands to reason that they need to be at their best if they are going
to most effectively help their kids.
So how do we cope? Most
likely, there is no “one size fits all” solution. Each of us has
different feelings and responds to different remedies. Additionally,
finding ways to cope may be an ongoing process, because life with a
special needs child doesn’t seem to be static. Hopefully, we can all
learn some coping mechanisms that work in whatever situation arises.
Since
I don’t have any concrete answers myself (sorry about that), I searched
for some ideas. There have been plenty of books written on this
topic. There are plenty of
articles online about coping, and there are online support groups for
various disorders: Google away! Depending on where you live, there may
be support groups that meet in person.
Then there are the
somewhat less typical ways of coping. Keeping a journal may help-you
can vent your deepest feelings without finding someone to listen. Some
people are fans of meditation and positive thinking. Others swear by
the mind-clearing effects of an exhausting workout. Maybe a good cry
is necessary.
In addition to learning how to cope on your own,
hopefully there is someone in your life who can help you cope. Some
people will offer their help; some won’t, but are actually more than
willing to help when asked. Maybe it would be a friend who would
listen to whatever you need to say without reciting useless and
insulting platitudes. Or it could be a family member who would help
you with the mundane daily activities of life that can seem
insurmountable at times.
And if nothing else works, at least
we are here for each other. Many of us have been comforted and
encouraged by the words of other parents in our group. Thankfully, we
have found this forum to help us cope.
Will raising our
children ever be easy? Maybe or maybe not, but for better or for
worse, it is our new normal. No one is ever going to take the weight
of caring for my child off of my shoulders (not that I would let them
or want them to!). Therefore, by necessity, I have to find my own way
to cope. I simply have no choice.
So tonight when I am alone in
the dark, I will use the power of positive thinking and firmly tell
myself that my daughter’s disorder is not my fault…it’s not, right?
