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