Friday, May 05, 2006

Parents Go Online to Understand Genetic Diagnoses

This snapshot (short summary of current research) comes from the FPG Child Development Institute at the University of North Carolina/Chapel Hill. It is a very interesting report that all pediatric practitioners should read, because it clearly shows the true impact of the internet for parents looking for information for genetic disorders.

One point from the article summary:

This study shows, however, that this knowledge no longer belongs solely to the professional. These parents may know more than most professionals about their child’s specific genetic disorder. They may have spent far more time doing the research and talking with other parents about optimal treatments and interventions, and come to see their role to be that of educating
service providers about what they have learned. In effect, they are "citizen scientists" who share authoritative knowledge with service providers and expect to be partners in decisions affecting their children.

Today's primary care providers, as well as specialists, are working in tandem with parents who are using the internet to find information. That is the reality. While this can sometimes lead to parents who obtain very questionable information--especially on treatments that go beyond "alternative" and into fantasy--it also leads to parents who have a great deal of quality information. It would be very wise to pay attention to what parents are learning outside of your practice with them. In fact, asking about the information they are learning should be part of your practice.

The truth is, for rare disorders particularly, parents who spend time looking for answers are oftentimes going to be your primary source of quality information. You just have to leave yourself open for learning genetic information from an informed layperson.

That's the hard part.

No, every parent who finds a support group and a bunch of web sites on the internet is not an expert.

But some are.

Not acknowledging that can be detrimental to your own practice. If you are trying to keep up with current information about rare disorders, keep an open mind about what parents bring you.



Anonymous joe said...

Hi mary,

my name is Joe and I live in germany.
I write this comment because i am the founder of the german "PflegeWiki", a wiki-site (just like Wikipedia) in german language, specialized on nursing information.

As our german wiki has currently 2.929 articles, we started an english version on 01.may.

You can visit it by following the link

Well, it would be very kind, if you could give a credit to NursingWiki at your web-site

feel free to add your blog-url to

2:22 PM  
Blogger mary said...

Interesting concept, I'll watch to see how it grows! I added my blog's URL there. Thanks for the heads up.

6:33 AM  
Anonymous joe said...

you're welcome ;-)
Produnis (aka joe)

6:42 AM  
Blogger Dream Mom said...

Mary, That's interesting. Good post.

I think it's important though, that while it's great to find information, as a parent, we don't have the medical knowledge that a pediatric specialist has, to make decisions or to put all of this information in context. I agree, some parents do have a lot more information than some docs but I think you need to make certain that you find the "right" doc for your child's condition.

I am probably fortunate too, that I live near a large city and have access to world class specialists of nearly every kind which is not the case in every city.

As a parent, I find it's important to being seeing the "right" specialist. My rule of thumb (that I made up)is that my child can't be: 1) the worst patient in the doc's practice or 2) the worst patient he sees all day. If he is, then we are probably not at the right place. When you follow this rule, you are more likely to find a doc that is more knowledgeable and can make a correct diagnosis or at least has seen/heard about a case or cases like yours. I also tend to do searches for specialists who's primary research matches my child's diagnosis.

My son was the first person in the world to be identified with one of three gene patterns on a newly found gene mutation. It was because we were at the facility where the gene was discovered and the geneticist was making hospital rounds, that Dear Son was tested. The geneticist had read Dear Son's health history and thought he should be tested. This is just an example of being at the right place and being at a place that sees children and has a lot of experience with children with rare disorders.

I think it's wonderful though, that we have access to all of this information via the internet. That in itself, is pretty amazing, especially if you grew up working before pcs entered the workplace:)

12:48 AM  
Blogger mary said...

I also tend to do searches for specialists who's primary research matches my child's diagnosis.

A very good example of useful internet use!

I guess the point of my post is not to counsel parents about internet use one way or another, but to remind clinical professionals that---no matter their personal feelings---parents are using the internet to search for "stuff", and a lot of what they are finding is potentially valuable and useful.

Not all, but a lot.


7:21 AM  
Blogger The Laundress said...

Hello there,

thank you VERY much for this post!

My husband and I have been drifting for months with what have been sometimes severe and painful sypmtoms with our son... No diagnosis yet. Maybe we will never have one and he HAS been getting better...

But for a little while, not long ago, we had a doctor exploring possibility of a specific genetic disorder. I learned a LOT about the disorder by surfing and my neighbor, a retired nurse, was helping and learned WAY more. I had a really strong feeling that we (especially nurse) knew far more than our doctors about the suspected disease... then thought, "Aw, no, couldn't be". .. well, betcha we did and still do!

Thanks for the affirmation!

12:17 AM  

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