NPSW Conference 2000

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Our most recent conference was held in Arlington, Texas on July 27 & 28^th, 2000.   We had 52 people attend the meeting, with approximately 34 affected with Nail Patella Syndrome. 

It was a weekend to remember for all of us!  For many it was the first time they had ever met someone else with Nail Patella Syndrome other than their own family members.   Several who attended, had only known about Nail Patella Syndrome for a few days, so it was also quite an experience for them.  We were fortunate to have some excellent speakers who deepened our knowledge of this condition and provided us with important information for managing our healthcare.

Friday, we met in the bar of the Ramada Inn and socialized.  This was where many of us met for the first time.  We chatted, ate, and compared thumb nails, feet and hands.   There was a lot of excited chatter which lasted well into the night!  It was also a wonderful opportunity to speak informally with several of the doctors who would be presenting the following day. 

Saturday we began the meeting at 9 A.M.  Iain McIntosh gave a short introduction to NPS and described some of the research being done by Dr. Randy Johnson (who was unable to attend).   Dr. Johnson is doing mouse studies with NPS and noting how the gene mutation affects these animals. 

Dr. Jeffrey Towers spoke next about NPS and Radiology.  Dr. Towers and his wife have a son with NPS and could provide us with many x-rays and MRI's showing how NPS affects our bones and muscles.  Dr. Towers' advice is to have x-rays and an MRI done before any surgery is performed.  This will assist the surgeon in being aware of your unique bone placement and musculature.  Research has shown that individuals affected with NPS often have misplaced or missing bones and muscles.  It is very important that the surgeon be aware of this before surgery has begun.  Dr. Towers expressed an interest in seeing x-rays or MRI's that have been performed, and is willing to assess them for you.  

Our next speaker with Dr. Steve Zaretsky.  His topic was back, knee and elbow pain.   Dr. Zaretsky spoke with us about the various challenges that face individuals with NPS in regards to their backs, knees and elbows.  He explained all the possible treatments that should be tried before surgery becomes necessary.  He gave the wise advice that surgery should not be considered unless you absolutely can not live with the pain any longer and you have tried everything else.  He also discussed the successes of elbow surgery since many in the group were facing that.  Dr. Zaretsky is also very willing to answer any questions anyone may have in regards to their Orthopedic problems and NPS. 

Following lunch, Dr. Iain McIntosh discussed NPS genetics.  He explained to us the different types of mutations that occur and how that happens in the cells of our bodies.  He explained how the absence of LMX1B (the NPS gene) affects our growth and development.   He also shared with us the various research projects he is working on.  Dr. McIntosh was also interested in getting blood samples from anyone affected with NPS.   By looking at our blood, he is able to determine the exact mutation each individuals has and use that information to learn more about NPS.  Dr. McIntosh is also willing to answer any genetics related questions you may have. 

Ophthalmology and NPS was the next topic discussed.  Dr. Sam Mansour spoke to us about the various NPS related ophthalmological findings and specifically about glaucoma.  He described how glaucoma affects our eyes.  He also discussed the tests that our Ophthalmologists should be performing on our eyes in order to have a thorough eye exam.  He also discussed the various terms doctors may use in explaining the stage of disease we have.  

Our final medical topic was NPS and physiotherapy.  One of our own NPS'ers, Christine Brown Sargent, spoke to us on this subject.  She provided detailed explanations on stretching and strengthening exercises(see exercise program).  Many of these exercises were adjusted to take into account the various limitations facing individuals with NPS.  With regular and appropriate exercises, muscle groups can be strengthened to avoid future injury or possible loss of mobility. 

Throughout the day, all the doctors were available for answering questions, and also for asking questions.  It was truly a day of mutual education!  It was also very intense, with a lot of information being presented.  A big thank you to all the speakers for their dedication to this cause!

After a brief introduction by Alan Bates, Denise Cline discussed the establishment of a Non-Profit group for the purposes of fundraising, medical awareness and future conference planning.  Our non profit group, Nail Patella Syndrome Worldwide has been registered with the appropriate authorities.  Several individuals volunteered to help in the various committees.  We discussed possible dates for the following conference.  It was decided to hold the conference in July, 2001 in Southern California.  Denise Cline will be in charge of organizing the conference.  Several others volunteered to help.  The Medical Committee was established with the mandate of creating a Medical brochure.  This brochure would provide physicians and patients with necessary information about NPS.  A Finance Committee was also established with the goal of raising funds and wisely managing and dispensing the moneys received.

The following day was spent at Erjuana and Royce's home.  We enjoyed good food and good company.  We also could swim in their pool.  We auctioned off several prizes and got an opportunity to meet Erjuana's mother.  Erjuana and her family were featured in the Dallas newspaper on the Sunday prior to the conference.  This article helped many individuals living in the Dallas area to learn about NPS and even to be diagnosed themselves.

Anyone interested in receiving a copy of the video of the conference, can e-mail me through this link: Email Me. 

If you have any questions or would like to contact one of the Doctors mentioned above, please feel free to email your request by clicking on the following link.  Request Information

Thank you,

Joanne

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DISCLAIMER: These materials are for informational purposes only, and are intended to provide you with reliable and timely health information. It is not our aim to provide health advice or counseling, which should be sought from a licensed health care practitioner or health care organization.