Mountains States Genetics Regional Collaborative Annual Meeting 2012-2013

Two years ago, I was doing some Internet research regarding newborn screening and mitochondrial disease. Back then we had recently been told by doctors that this was the genetic condition they thought our daughter may have. So I was looking for information on whether conditions like this were screened for in Texas and came across this website: .  I called the number listed and spoke with Liza Creel, the project coordinator for the program. She gave me some resources and told me about their organization and said to call them back if I had any other questions.
Little did I know that phone call would be the first contact with an organization I am now working with!  Through my time on the 2012 Baby’s First Test Consumer Task Force, I was reintroduced to the MSGRC and joined their consumer advocacy work group. Then later last summer, I interviewed for a job with MSGRC.  Viola! I am now working with the MSGRC as their social media coordinator since October. I have had the awesome opportunity to help them update their website, build a Facebook page and jump into the world of Social Media!
This weekend, I was honored to attend the MSGRC annual meeting in Phoenix, AZ as a member of the consumer advocacy work group (along with some Facebook page updates, as well).
As I am headed home, I have lots to share about my experience at the MSRGC meeting!

Here is my TOP TEN (+1)  list of what I learned at the MSGRC meeting

(though too long to write here, it should actually be probably a TOP 100+ list)

1. The meeting started bright and early on Sunday morning with the consumer advocacy work group. This is an amazingly dedicated group of consumers, either with children or themselves impacted by genetic conditions. I had the honor of presenting my project that I completed for Baby’s First Test along with my colleague from the task force, Bill Morris, who presented his project and foundation, Grey’s Gift.

2. Evaluation was a key message that ran throughout the meeting. The MSGRC (like all the other collaboratives) have been tasked with program evaluation and measurement of their goals and achievements. I quickly realized as we worked through some of the evaluation exercises with the excellent evaluator Sharon and her graduate students, that evaluating projects that cover an 8 state region is a much more challenging task than evaluating and measuring something in the laboratory, where a numerical value is often printed off an instrument!

3. During the next main session a number of the national partners to the MSGRC region presented updates on their organization. Dr. Bocchini representing the SACHDNC presented on the current status of the upcoming meetings, in light of the fact that the funding for SACHDNC will be expiring soon (Newborn Screening Saves Lives Act). There will be a webinar in April, just before the legislation expires. Personally, I am hoping this legislation gets renewed quickly! I was also excited to hear about the National Genetics Education and Consumer Network (NGECN) being launched by Genetic Alliance in support of the National Coordinating Center’s objectives. From my work with Genetic Alliance on Baby’s first Test, I know they are a consumer focused organization with great programs!

4. The evening session was focused on CCHD (Critical Congenital Heart Disease- pulse ox). There were some really great speakers including Dr.Guillory and Dr.Wong from Texas who are leading the TxPOP program (training nurses in pulse ox monitoring) and Dr. Puntel From Arizona who demonstrated how using telemedicine it was possible to train pediatricians to do EKG screenings remotely while, he, a cardiologist, reads them prior to determining if a child may need to be transferred to a hospital which could perform an EKG ( the cost of the remote equipment and telemedicine set up cost almost as much as it costs to transfer/test/diagnose/and treat one child, allowing for a huge cost savings by doing this screening remotely.)

5. At dinner I had the pleasure of learning a lot from those at my table, about the LEND program in Utah and Nevada:

Leadership Education in Neurodevelopmental and related Disabilities

LEND is a program that is grant funded by the Maternal and Child Health Care Bureau (U.S. Department of Health and Human Services). The aim is to shape future leaders in health care and health policy for the United States. Grants are awarded to agencies that can provide this training.

This program sounded so interesting to me and I hope to look more into the Texas equivalent, when I get home and a few seconds to research it!

6.Newborn screening laboratory breakout session. It was really an honor to sit in on this session. I really enjoyed listen to the “lab” stuff including discussions on quality improvement projects presented by a biochemist from ARUP lab. I felt the discussion which followed summarized the power of the regional collaborative in a nutshell. Basically 3 states represented at the meeting realized they were all having the same sample collection/lab concern, yet they all thought they were the only ones having it because they were being told by the powers that be, that there were no issues. Having realized that it was not isolated to one state, gives them the leverage now to investigate further why at least 3 states are having the same concern, and hopefully get closer to a solution!

7.  Newborn screening Workgroup main session was filled with lively discussions about evaluation measures, including focusing on what is the 5 year goal and the activities needed to reach that goal. The table I sat at included an excellent perspective from a pediatrician who noted that having NBS results available in the electronic health record by the 2wk visit, and then having the parents request to discuss those results (and the pediatrician offer too!) was her goal. I could not agree more… and hope one day NBS results will be presented and discussed with parents at the 2 wk appt all over the country!

8. Medical home work group. The term “medical home” is a new one to me in the last year or so. Here is a definition, a video, and a resource for more info.  This work group included a presentation by a fellow consumer advocacy  workgroup member, Brad Thompson, a parent of a child with special health care needs. Brad created a model of a parent liaison/ medical partnership in his family’s hometown in Texas, that he is now implementing in other states in the region.  It is an amazing concept and one which I hope can be duplicated in other areas including my own!  Another great presentation was by Gina Pola-Money and Chuck Norlin, about the Medical Home initiative in Utah, including this great Resource: The Medical Home Portal.

9. Emergency preparedness workgroup.Although, I only had the chance to be at this workgroup for a short time, and after presenting about the social media/website info I had to head to the next workgroup to present, from what I heard later though from my fellow advocates and colleagues, there were lots of great discussions. An emergency can come in lots of shapes and sizes and can impact everything from laboratory and followup screening for newborns to food and formula supplies for those with metabolic disorders.

10. Telemedicine workgroup. This workgroup is a fascinating one to me, perhaps because we have participated in telemedicine type genetics services for our daughter. An interesting project was presented by a doctor from Cooks Children Hospital in Dallas about how this group is using genetics coupled with telemedicine to service those who may live far from the hospital. I look forward to learning more about this groups projects and endeavors, as I truly believe tele-medicine is the wave of the future and a cost-savings one at that!!

+1) hemoglobinopathies Interest Group
On the last day of the meeting I had the opportunity to sit in on the hemoglobinopathies interest group. This group is led by Dr. Kathy Hassell, one of the program directors for the MSGRC. Dr. Hassell is passionate about this field and particularly in treating ADULTS with these type of blood disorders, which I discovered is a rarity in the genetics/hematology field, since there are many more specialist trained to see children. Sickle Cell disease is just ONE of the many types of hemoglobinopathies, and I found out the MOST COMMON screened for disorder in Newborn Screening panels. I look forward to learning more about this group of disorders in the future.

Whew! What a weekend…jam packed full of lots of great people and lots of great info!

If you are interested in taking part of the GENETICS conversation in your state/region… click here to find your Regional Collaborative and call them up and let them know you would like to find out ways you can participate and help out!


About Empowered Advocacy Pediatric Patient Advocate
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