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Los Angeles and Orange County Local Network Group
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Back to Chapter and Network Home Page Meet our Network Group Leaders
Roelina Berst (co-chair)
with husband Chuck in the background
Regine Wood-Bluestein (co-chair)
Lisa Jefferies (co-chair)
Contact Information Contact:
Roelina Berst Phone:
(310) 476-6190 E-mail:
roelinab@roadrunner.com
Contact:
Regine Wood-Bluestein Phone:
(310) 391-4453 E-mail:
Reginew33@aol.com Contact:
Lisa Jeffries Phone:
(714)429-0753 E-mail:
lisajeffries@me.com Description of the Group Now in its 6th year, the Los Angeles and Orange County Local Network has about 90 people from throughout southern California. We usually meet once a year for a social /educational gathering, featuring a guest speaker. New members are always welcome. Past meetings have featured Dr. Robert J. Siegel, Director of Cedars-Sinai Cardiac Noninvasive Laboratory, Dr. David Rimoin, Chairman, Medical Genetics Institute Cedars-Sinai, and Dr. Kevin Miller, UCLA Professor of Ophthalmology. Meeting Location Dates of Future Meetings and Events Coming soon!
Announcements Los Angeles & Orange County Network
Luncheon
Sunday, September 13, 2009
UCLA Faculty Club
Luncheon Sponsors: Roelina & Chuck Berst, Albert & Rita Harris and Regine & Jerry Bluestein.
Guest speakers:
• Joseph K. Perloff, MD, Professor or Medicine and Pediatrics and Founder of the UCLA Ahmanson Adult Congenital Heart Disease Center.
• Gergory Perens, MD, Pediatric Cardiologist at Mattel Children’s Hospital, UCLA
• Pamela D. Miner, RN, MN, NP: Nurse Practitioner at the UCLA Ahmanson Adult Congenital Heart Disease Center
Dr. Perloff gave a history of Marfan Syndrome. He stated that The UCLA Ahmanson Adult Congenital Heart Disease Center has established a Marfan Registry within its facility since they see so many Marfan patients. Perloff stated that Marfan is an inheritable connective tissue disorder affecting one in 5,000 people. Statistically, 50% of children of a Marfan affected parent inherit the disorder. Some significant work on retarding growth factor TGB1 was reported in the most recent edition of Circulation; this factor retards connective tissue growth and so can help ameliorate some Marfan symptoms. More than 500 generic mutations, traceable by family, have been identified as associated with Marfan syndrome; to some extent the diagnosis of Marfan is a combination of genetic and clinical evidence; position of the lenses of the eye are a key identifier to differentiate it from other conditions.
Pamela Miner mentioned that diagnosis is with ECHO/TTE and or MRI/CT scans. What to do “Beyond Pills”:
- Regain control over your own health status through education, participation in medical management decisions and lowering stress
- Avoid “bad” coping behaviors: denial, substances (tobacco, alcohol, etc) and poor health habits
- Be aware of your psychological state; reduce stress
- Look into complimentary medicine: Eastern medical practices and mind/body healing practices like Yoga.
Dr. Perens works directly with pediatric patients and in cooperation with geneticists in the clinic. At times, a diagnosis in very young patients is difficult; definitive diagnosis may have to wait until puberty. When a diagnosis is made, siblings should be tested and examined as well. He mentioned:
- 30% of Marfan patients have no genetic history to suggest the condition
- Referral should be for eye and orthopedic conditions
- Genetic testing can be offered
Questions and Answers:
• Are there false positives/negatives with genetic testing? Combined with physical symptoms, genetic testing is “99% accurate.”
• Is dural ectasia a hallmark of Marfan? It is, and one of those attending shared a success story with extensive surgery for this condition, a surgery that enabled her to walk again.
Michele Cripps of the Tall Club of Orange County encouraged all to participate in their fund-raising activities for NMF, including a proposed dinner dance in October, and the next Casino Night on April 24, 2010. Contact Michele at 310-527-7233 for info. The last Casino Night netted $9500 for NMF !!
Suzanne Bowman runs the Marflix library. Contact her for RENT, for educational films and for a CD rom created for school nurses.
Lisa Jeffries had an incredible experience using RENT as a springboard for Marfan education of teens and encourages others to do likewise.
Jerry Bluestein is looking for 25 volunteers to make calls encouraging people to become members of NMF; people volunteered.
A new program called “Saturdays with Santino” was created by a Network member to help teens trying to come to terms with Marfan. Submitted by Miriam Hearn
Event photos by Julie Schlosser
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