On October 13, 2012, NF Midwest held its 21st annual symposium in
Chicago. I was blessed enough to be
in attendance with many NF families to hear three wonderful presenters, Dr.
James Tonsgard, Dr. David Viskochil, and Dr. Tiffany Dell’aquila.
Each professional held true to his or her topic of the day and gave us hope
that change in the field is about to happen.
Dr. Tonsgard started the day off with his talk on the Natural
History of NF1. In his presentation, he
discussed his work on the NF database and how it has helped him see differences
in complications in the disorder. In addition, he also discussed his treatment
of NF patients and how he would like to see more aggressive treatments that he
believes is based on chemotherapy. He
also discussed briefly genetics, which was a natural transition into the topic
of Dr. Viskochil.
Dr. Viskochil’s morning presentation was on genetic testing in
NF1 and his afternoon presentation was on NF1 and bone health. Both presentations were very
interesting. The morning presentation
was very heavy-handed on genetics, but he was very successful in presenting the
material in a manner that everyone could understand. He explained how the NF mutation occurs and
what happens, when it happens. By using cartoon illustrations, he made this
complicated process easy to understand.
In both presentations, he made it very clear that NF is a spectrum disorder,
meaning that one person’s symptoms will be different than the next. However, like most disorders, there are
commonalities that occur among most people diagnosed with NF.
In the afternoon presentation he discussed leg bone bowing and
the research occurring to help correct the false joints that can happen if and
when the bone breaks. He also touched on
scoliosis and how it affects most people diagnosed with NF. Dr. Viskochil briefly discussed learning
disabilities in children with NF. He
stated that about 51% of children with NF have school problems, but only 34%
receive special education services. He
did not explain in more detail the reasons behind this, but it proved to be a
natural transition into the next presenter.
Dr. Dell’aquila is a clinical psychologist who specializes in
executive functioning. Her presentation
emphasized on an individual’s ability to manage daily routines and setting
goals. It was very informative for
anyone who may have executive functioning problems. She gave many signs to look for and easy ways
to work on correcting them. Overall, she
was very inspirational and gave very good tips as to how to keep on track and
accomplish the goals you have in sight.
This was a great event put on by NF Midwest, it was very
informative and gave a lot of hope for the research being done and that will be
done in the future. I think in time we
will see the world of NF being changed for the better, as researchers discover
new modifiers and factors that affect NF.
It is something to be on the look out for in the months and years to
come.
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