February 9, 2007...4:54 pm
Study Says “Good Job!”
In the January-February issue of Reaching Out, there is news of a study - Cornelia de Lange Syndrome: Parental Preferences Regarding the Provision of Medical Information - recently published in the American Journal of Medical Genetics. The study was authored by Dr. Alex Levin, the Medical Director for the CdLS-World Scientific Advisory Council, and Deborah Hinkson, a genetic counseling professional.
Despite a rather dry title, this study provides several juicy insights about the quality and quantity of information parents receive at the time of their child’s diagnosis. The study reflects well on the CdLS Foundation’s efforts to provide information to parents of newly-diagnosed children, but does point out a general dissatisfaction about the amount of relevant information available when parents receive the diagnosis. There is good evidence that genetics professionals need more information and links to info about CdLS.
“The majority of caregivers (61%) indicated that the CdLS Foundation was the most (my emphasis) useful source of information at diagnosis with the next most useful sources being a health care provider (10.87%) or information pamphlets (10.87%).” p.2174 This is excellent news to hear as a Foundation staffer and supporter, but I’m not satisfied with this percentage. Does this mean almost 40% of parents indicated something OTHER than the Foundation was most useful?
Not if one considers that the CdLS Foundation is the likely source of the pamphlets mentioned in the study. Likewise, 4.35% of caregivers found the Internet/computer most useful at diagnosis, although no details of Internet resources (such as the CdLS Foundation web site) were published. If the percentage of caregivers that believed the CdLS Foundation, information pamphlets, and the Internet/computer were the most useful source of information were combined, more than 75% of the caregivers surveyed likely believed the CdLS Foundation informational services to be most useful at the time of their child’s diagnosis.
The statistics for the most commonly used current information sources reflect even greater use of CdLS Foundation services. Caregivers found the CdLS Foundation most useful currently (66.67%). When considering pamphlets (2.38%), Internet/computer (7.14%), and even other parent/family members (14.29%) are sources of information that the CdLS Foundation makes available, more than 90% (again, my emphasis)of the most useful sources of information can be traced back to the CdLS Foundation.
“OK,” you might say, ”why are you blowing the Foundation’s horn so much?”
These numbers are important since a key part of our mission is to inform and educate. Pamphlets like “Facts About CdLS” and website forms to request info are crucial tools in getting the info out that families need. Those pamphlets and that website cost money to print and maintain. That money comes from generous donors who understandably expect the Foundation to spend it effectively. This study, in its own way, is saying ‘good job.’
Now, for the work that still needs doing.
“Caregivers ranked reflux, feeding and behavior as the top three health complications (past or present) that were the most serious for them.” p.2173
Unfortunately reflux and behavior were mentioned at diagnosis in less than half of the cases. This apparently contributed to an overall dissatisfaction with the amount of information caregivers were given at diagnosis. However, the study authors discuss the possibility that health care providers may be trying to shelter parents from “information overload” by mentioning only the most important medical information at the time.
“Also, given the relatively low incidence of this condition, many health care providers may encounter a patient with CdLS only once in their professional career. Therefore the health care provider may lack the opportunity to be prepared with the necessary information for caregivers.” p.2177
How do we change this? How do we make CdLS an acronym that health care providers know, or at least remember from somewhere in their training? If you are in the field, how can we effectively inform you and your peers about CdLS?
If you have answers to one of these questions or a comment you would like to add, please register with WordPress (quick and free) and speak your mind. Thank you for dropping by the Water Cooler. -DC
7 Comments
February 18, 2007 at 1:56 am
I am a health care provider whose son has CdLS, so I can comment on both sides of this issue. My son was initially diagnosed at the hospital where I attended medical school. I had actually spent a month-long rotation working with our geneticist some 5 years prior. I had never heard of CdLS until my son was diagnosed with the condition. I think, unless one directly cares for (or has at least met) a person with CdLS, it is difficult to remember much about the syndrome, especially if one has only read about it in a textbook. And I think it’s the same for any other relatively rare condition. I don’t think my son’s pediatrician had ever before seen a child with CdLS, but I am sure he would recognize another if he saw one now!
Our geneticist was gentle, but at the same time very blunt when listing all the potential issues (including feeding and behavioral concerns) that went with CdLS when our son was first diagnosed. I am not sure if he did that because of my medical background, or if he took the same approach with all parents. The CdLS Foundation was first mentioned to us by the genetics counsellor working with him, and of course we found the website to be very helpful.
Sorry this comment was so long!
February 19, 2007 at 4:33 pm
Karen,
What a wonderfully apt comment and just the right length, I might add.
I agree with you that diagnosing CdLS does require a sharp (and possibly obsessive) memory for professionals not involved with diagnosing syndromes or rare diseases on a regular basis. But you also hit on a note of hope when you said you are sure your son’s pediatrician “would recognize another (child with CdLS) if he saw one now!”
Do you believe it’s worth our time/effort/funding to attend conferences for geneticists, genetic counselors, school nurses in order to encourage “recognition” of CdLS and make diagnosis more likely?
If not, how might we connect with medical professionals (traditional and allied health) in a direct, compelling way?
I look forward to speaking with you further here or off-line at: giving@cdlsusa.org.
Thanks,
Darrell
P.S. Your blog photo of your recent duck recipe is driving me mad with hunger.
February 19, 2007 at 11:45 pm
Thanks, Darrell!
Increasing awareness about CdLS is a difficult task, but I think we have to try. I do believe that it is worthwhile to attend conferences for medical professionals to educate them about the syndrome. (By the way, what sorts of presentations are generally done at these conferences? Do you target primary care doctors as well? For me the most compelling presentations involve actual patient stories or case studies, but that’s probably just my personal preference.)
I think one thing that we as parents of children with CdLS can do is to involve medical students, nursing students and residents in the care of our children whenever possible. Usually this is possible since many of our children are cared for at teaching hospitals. Speaking from personal experience, I don’t always remember medical conditions I have only read about, but I will ALWAYS remember the patients I met and cared for who had rare conditions.
You should try the duck recipe - it was really good!
- Karen.
February 20, 2007 at 10:33 am
Karen,
My initial idea for reaching professional audiences at conferences was to setup a “booth” in the vendor area, display our DVD presentation, give away chotchkies
that have our contact information and otherwise establish our presence at their conference.
But you have inspired a much better idea . . . I think.
What if we created an instructional unit for instructors of medical and education students (doctors, nurses, special educ. teachers, etc.)? If we made it specific enough it would serve to promote awareness and diagnosis of CdLS. If we also included general concepts common to many syndromes such as genetic mutation, heredity, prenatal testing, perhaps it could be used as an introduction to a learning unit about syndromes or rare diseases. While not a live presentation, students would have a “visual” to add to their reading (and memory).
How were units/lessons organized during your training? Is this idea workable? I am pretty sure we have “teaching” physicians on our CAB who could test this idea.
- Darrell
February 21, 2007 at 12:53 am
Hi Darrell,
My first 2 years of medical training were mostly didactic sessions combined with problem-based learning units. We learned about some genetic disorders during our biochemistry lectures (e.g. inborn errors of metabolism like PKU) and also during the lectures on embryology and genetics (where we learned more about syndromes resulting from genetic mutations and chromosomal abnormalities). We also had small-group sessions where we were presented with a case to work through step by step; I remember our case involved a toddler who was ultimately diagnosed with cystic fibrosis. More informally, at least a couple times per week a different club (e.g. the Pediatrics Interest Group) would sponsor a speaker or show a film over (free) lunch - not surprisingly these talks were very well-attended.
My last 2 years of medical school (and my entire residency for that matter) involved mostly hands-on training in the clinics and in the hospital and a lot of self-directed reading. We also had almost daily didactic sessions usually over the lunch hour on some topic of interest.
I think the idea of an instructional unit is a good one. The big question is whether or not it will be accepted by instructors for inclusion in their curricula. It might also be difficult to come up with just one unit since each target audience would have slightly different needs and levels of understanding of the more technical aspects of CdLS and other genetic disorders. If the unit were detailed enough, I think it could fit in nicely with a medical school curriculum.
March 15, 2007 at 9:35 pm
The geneticist who diagnosed Audrey did not tell us a lot of specific information about the possible medical complications with CdLS. I actually preferred that, as at the time, we were overwhelmed enough with the news of the diagnosis that we didn’t want to be bombarded immediately with details of all the problems she might face. However, I am a big internet user and had actually already visited the Foundation’s website prior to Audrey’s diagnosis, thus I was already pretty educated on CdLS at that point. I do realize this is not usually the case, though, so many parents might want or need a lot of information at the time of the diagnosis.
There is no easy answer to what would be the “right” amount of information for the geneticist to give the parents upon initial diagnosis, because to what one parent might seem like a bombardment of information, might feel to another parent like not enough information. I think our geneticist handled it well in that he told us verbally about a few key points, then also handed us some printouts that gave us further information. I do not recall if he personally knew about the Foundation or not and/or told us about it, but I think perhaps he did since he was prepared with so many internet printouts for us. I think the geneticists pointing the parents in the direction of the Foundation is a good way to go. That way the parents can have some time to let the news of the diagnosis sink in, and then when they are ready, they can contact the Foundation for all the detailed information that they will need.
Angela Barton
March 16, 2007 at 8:57 am
Angela,
I think you hit it on the nose when you said “to what one parent might seem like a bombardment of information, might feel to another parent like not enough information.”
You seemed to have had a positive experience with the geneticist and got the amount of info that was just right for you at that time. MM
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