Valentine's Day is
behind us, and we hope you enjoyed a little chocolate and some time
with the people you love best. St. Patrick's Day is ahead, and when
Celia thinks of that day, she remembers the Chicago River, dyed green
for the day, and the parade that celebrated a culture and a
Please mark your
calendars for the MSGRCC 2012 Annual Meeting, which will be June 28-30
in Denver, Colorado. The hotel and meeting location are being finalized
and we will share those details with you as soon as they are available.
In addition to continuing the valuable activities of each of our
workgroups, we will have plenary sessions on relevant genetics and
newborn screening topics, and several project meetings. We hope to see
was the host city for the MSGRCC mid-year workgroup meetings February
24-26. MSGRCC staff and many of you enjoyed three days of productive
work and networking. We will be posting the minutes of the workgroup
meetings on our website.
Screening Workgroup, chaired by Susan Tanksley (TX) and Jeff Botkin
(UT), who participated by phone/webinar, heard updates from each state,
including status reports on implementation of newborn screening for
Severe Combined Immunodeficiency Disorder (SCID) and Critical Cyanotic
Congenital Heart Disease (CCCHD); status of data integration; and
implementation of NICU newborn screening protocols. Jeff Botkin, who is a
member of the Secretary's Advisory Committee on Heritable Disorders in
Newborn and Children, provided a report on the activities of the
committee at their January meeting. Stuart Shapira from CDC gave a
preliminary report on a retrospective study of second newborn screens
for congenital hypothyroidism and congenital adrenal hyperplasia. The
workgroup will consider some reorganization to allow increased focus on
specific issues by smaller subgroups. They will also work to resolve
follow-up issues in states who contract with other states for nbs
Council met to review activities of the current year as well as plans
for the next five years, as reflected in the grant submitted recently to
HRSA for competitive continuation of MSGRCC. As always, they provided
us with great perspective and guidance, and will remain critical
partners as MSGRCC grows over the coming years.
Preparedness Workgroup, chaired by Donna Williams (TX) and Sondi Aponte
(AZ), reviewed emergency preparedness activities in each of the states.
Activities in most states have concentrated on newborn screening
laboratory preparedness, with some emphasis also on short term
follow-up. However, there has been no focus on emergency preparedness
from the standpoint of the individual family. At this meeting, families
and workgroup members talked through the steps that are needed to assure
that families are prepared for emergencies that could interrupt their
access to medical foods, specialty providers, essential medications,
equipment, and other necessities. This will be the focus of the
workgroup for the next year.
Workgroup, chaired by Brad Thompson (TX) and Thelma McClosky Armstrong
(MT), reviewed our current telemedicine projects (the Colorado Early
Hearing Detection and Intervention Telemedicine Project; the Montana
Tele-genetics Project), two new projects (Cook Children's Telegenetics
Program; Telemedicine in Native American Communities) and proposals for
the coming grant cycle. This workgroup will work on the development of a
basic dataset to be collected from each telemedicine project and will
complete a white paper on telemedicine and the medical home.
Advocacy Workgroup, chaired by Joe Martinec (TX) and Rod Slaght (CO),
reviewed many of the MSGRCC projects and discussed their sponsored
presentation for the MSGRCC 2012 Annual Meeting. Dr. Sydney Rice
presented on the Arizona LEND (Leadership Education in
Neurodevelopmental and Related Disabilities) program, and there was
discussion about strategies for strengthening collaboration with the
Arizona LEND and other valuable programs in the region. Finally, the
workgroup suggested that MSGRCC consider implementing a mentorship
program where long-standing Consumer Advocacy Workgroup members can
mentor new consumer advocates in the region.
This was a
wonderful 3 days, as we celebrated all that has been done over the last 4
years and our plans for the future. We were humbled by the
commitment and volunteer spirit of our friends and colleagues. Most of
our members attend these meetings on their own time, and they spend
numerous hours in between meetings working on various workgroup
projects. Over these three days, members identified new priorities,
talked about what they can do to overcome barriers, and volunteered yet
again to do more on behalf of their children, patients, neighbors,
friends, and complete strangers. We live in a fairly cynical time, but
this meeting put cynicism to the test. We were left with faith in the
good will and determination of people who just want to make things
better. Thanks to all of you who were in Phoenix or contributed to the
discussion via teleconference and webinar, and thanks to those who
support us but were unable to be there this time.
I. Kaye, M.D., Ph.D.
Kathryn Hassell, M.D.