2001 Conference!

Submitted by Denise Latanzi

    It’s hard to believe but it has been a year since Arlington. We have some new speakers this year, and some returning ones. NPSW wishes to express our deepest gratitude to the physicians that have made the time this year to speak at this years  conference.

    Now Let us introduce your speakers for Conference 2001!

Dr. Iain MacIntosh

    I was born in Edinburgh, Scotland, and went to the University of Edinburgh getting a BSc in 1984 and a PhD in 1988. My PhD involved studying gene expression in mouse liver. I then worked in the Human Genetics Unit at the Western General Hospital in Edinburgh, developing diagnostic tests and studying the cystic fibrosis (CF) gene.
I came to Johns Hopkins in Baltimore in January 1991 to work on different aspects of CF. In 1993 I started working on different connective tissue disorders including Marfan syndrome and a type of dwarfism. I must have first started working on NPS in about 1994, around the time I started my own lab. Over the next few years, we refined the localization of the gene, and, after the gene was identified as LMX1B by Brendan Lee at Baylor in 1998, we proceeded to determine the range of mutations responsible for NPS. We are currently attempting understand how LMX1B is regulated as a first step towards learning why NPS symptoms are so variable. In addition to NPS, my lab works on the genetic basis of cleft lip/palate.
    I'm married with 2 dogs, a cat and some fish. My wife, Tina, works at Celera Genomics in Rockville, MD. She will be coming to the conference in July so that she can hang out in Beverly Hills!

 Kevin Lemley MD

Assistant Professor of Pediatrics,

Attending Nephrologist, Stanford

University School of Medicine

Palo Alto, California

Dr Elizabeth Sweeney

MRCP   DRCOG
Specialist Registrar in Clinical Genetics
Royal Liverpool Children's Hospital
alder Hey
Eaton Road
Liverpool L12 2AP
Tel: 0151 228 4811  ext.3073 email: [email protected]
 
Dr. Steven Zaretsky

 MD, FAAOS

Attending Orthopaedic Surgeon

Mt. Sinai Hospital, New York, NY

Christine Brown Sargent

MEd, PT , Physiotherapy Consultant

Rio Rancho, NM

Jeffrey Towers, MD

Assistant Professor of Radiology and

Orthopedics; Chief, Musculoskeletal

Radiology. 

University of Pittsburgh Medical Center

Sam Mansour, MD

FRCS(C), FACS

Associate Clinical Professor of

Ophthalmology, Stanford University

School of Medicine

Palo Alto, California

Adele Towers MD, MPH

Assistant Professor of Medicine and

Psychiatry, University of Pittsburgh

School of Medicine, Service Chief of

Primary Care and Geriatric

Medicine at the Western Psychiatric

Institute and Clinic

Debbie Krakow MD

Department of OB/GYN

Cedars-Sinai Medical Center

Los Angeles, California

Denise Latanzi

       My background is in nonprofit

management. I am currently the assistant

director of one of the Antelope Valleys

fastest growing organizations. I am also a

nonprofit trainer, and teach a wide variety

of subjects to local groups. Among the subjects I teach are; fundraising, grantwriting, board development and training, volunteer recruitment, and technical administration skills. I also assist

organizations in strategic planning- setting

long-term goals to help meet community needs.

    As a person with NPS, I am glad I have

Had the opportunity to serve NPSW in a field where my experience can truly make a

difference.

Carol Dobbins

    I remember what a very wise elderly woman said to me just before she died, that all my studying and nursing training would not go to waste. I didn’t really believe her then. I had been told that I should never work again due to my increasingly poor physical health…I was twenty-one years old. All I wanted was to be a nurse and when I knew that it had become physically impossible, I was lost and confused. I stumbled in and out of other jobs including retail management and recruitment consultancies, but my heart was never really in anything but the medical field.

At the age of twenty-four, I was registered disabled. I had to come to terms with the fact that I could no longer do as much as I would have liked. At that age, it was difficult. There were many times I wondered where my future would lead me. I was lonely and isolated.

       In November 1999, I began using the computer and was overjoyed at the information that found. I subscribed to the egroup that Alan Bates had started and learned that there were many others out there who had lived very similar lives to myself. It was an incredible feeling.

Gradually, my veil of secrecy was being lifted as I began talking about my feelings that I had hidden for my entire life. I found friendship with people who I learned to trust in a manner that was completely alien to me in the past. I realized that this was truly something wonderful that we had here and if we nurtured it, we would learn to live and accept that we were now in a position to make a change. We could join together with a strength that would empower us.

NPSW has become my commitment in my life. I am in a position where I can commit myself to it on a daily basis by working at the publicity needs and fundraising ideas together. So far, in the last ten months, we have managed to sell raffle tickets, fundraiser evenings, public strip waxing for publicity and to increase our funds, we have had cheques donated from large companies, we have had the incredible support from our local school, we have had the complete back-up from the local newspapers, we have had four national newspapers writing a feature on us, we have the Bella magazine soon to print another personal account and we even found the time to write and compile a beautiful poetry book… we have had a busy time!!

What next? The Bella magazine will go to print very soon. We also have five runners, running for the Glasgow Half marathon, who want to run for us to assist with the publicity and funds, we have another fundraiser at the end of the year in the pipeline and the school have also said that they would love to do another night for us in Easter of next year.

I know that we can do more and I look forward to a brighter future for us all. I want us all to receive the treatment that we all deserve, I want us all to be able to talk and share our stories and to support one another as we always have done.

Together, with a little commitment, we can make a huge difference.

Medical Committee Update

Submitted by HeideMarie Bates

                Last July, in Arlington, TX, a group of NPSers met and a new non-profit organization - Nail Patella Syndrome Worldwide - was launched. Within that organization committees were formed, and directives were outlined. As chair of the medical committee, I'm proud to say that as we reach the end of the first year of operations, the directives laid out for our committee have been met, and indeed, exceeded.

    The members of the medical committee worked quietly and steadily to produce a comprehensive, yet easily understandable brochure to be distributed to other NPSers and their medical care providers.  The efforts of our conscientious, committed team met the challenge, and we succeeded in publishing that brochure, which is now being widely distributed. I am immensely proud of this accomplishment, and of the people who made it happen.

    In addition to publishing the brochure, the medical committee has responded to over 50 e-mail requests for information on various aspects of Nail Patella Syndrome. As chair, I preview these requests and forward them to the appropriate committee member or members, after obtaining consent from the inquirer. This system has proved to be efficient and effective over the last year, and fulfills the objective of disseminating information and increasing awareness of NPS.

     Drs. Iain McIntosh and Elizabeth Sweeney have provided an entry on NPS for the new edition of NORD's Guide to Rare Disorders, and have both submitted abstracts to the Genetics meeting (San Diego, October). Dr. Jeff Towers has presented NPS MRI data at the Radiology meeting. Dr. Steve Zaretsky agreed to see a patient with NPS, who contacted us through NPSW, at his New York office. Dr. Sam Mansour has been indispensable in answering numerous glaucoma- related queries. Christine Brown-Sargent, PT has developed a physical therapy regime tailored to NPS anatomy and physiology. The list goes on.

     Though the efforts of this years' committee have been laudable, much remains to be done. I look forward to the challenges that the next year will bring, and the results that are sure to follow.

YahooGroup! Happenings

Submitted by Alan Bates

     Here's the latest update from the NPS Discussion Group – an Internet discussion group hosted by Yahoo. It has no subject bars and no restrictions, and is open to anybody that wants to network with other NPSers.

     The big news recently is that the group broke the 4,000 messages barrier for the month of June. Get your head around that for a moment! In all, over 37,000 messages have passed between NPSers since the group began.

     A once disparate community with no way of joining together on a daily basis is communicating at a rate of over 130 messages a day. For those of you who have never joined, that must be difficult to grasp. Certainly it's a minor miracle, compared with what we had in the days before we came together.

     Where are we now? What we have, at last, is an NPS community bigger than one person could ever be – a community where we all have the chance to play a part, and the members of the group have been privileged to watch that grow, one click at a time. The rich humor, the insights and the wisdom that we have dropping into our mailboxes makes a real difference to that is ours, members' lives – the opportunity to compare notes, to make ourselves at home in a world makes up for years of isolation. It really has become something special. We urge you to try it out.

     This could turn into a long piece on the difference the group has made: but instead, let a member sum up what the group has become.

     We have a bond that never ceases to amaze me.  What seems to be a list of people brought together by a medical condition is really a group of people bound by a genuine affection for each other... while we don't always agree, what awes me is the acceptance of others that is found here.     To join, go to http://groups.yahoo.com/group/nps and subscribe. Lives have changed that way.

In Appreciation

Submitted by Denise Latanzi

  There are many people who have stepped forward in the last year to help achieve the first year goals of NPSW. We have had our first medical brochure published, thanks to HeideMarie Bates and the Medical committee. The NPSW newsletter has gone our regularly thanks to the hard work of a lot of people, but in particular, Joanne Mansour, Grace Davis, and Cynthia Collazo. The NPSW web page is up and running, thanks to Carol Glenn and her web helpers.

    Carol Dobbins has been hard at work in her fundraising efforts, and Joanne Mansour has worked tirelessly behind the scenes keeping everything running smoothly. Our email database has grown tremendously since the first newsletter was published, and our mailing list has grown just as fast. All in all, it’s been a very productive and successful year.   

   Heartfelt thanks also go out to Alan Bates for designing the t-shirts and delivering them in time for the conference.

    NPSW would also like to thank Jennifer Carbo and the staff at the Ramada Inn Palmdale for the time and effort they have put into our event.

NPSW Contacts and Links

www.nailpatella.org

The official NPSW website

[email protected]

[email protected] 

[email protected]               

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For comments or suggestions                         [email protected]   

Poster Logo from the Scottish Fundraiser.