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Summer Roundup

August 25, 2008
Noonan Syndrome Conference
Noonan Syndrome
Conference 2008

Positive Exposure has had a busy summer! We made the annual circuit of genetic syndrome support group conferences, exhibited in Russia, and worked in partnership with the University of Maryland Medical School and two talented students, Heather Mezzadra and Kathleen Sanders, who were Positive Exposure interns during their school break. Read their reflections below on what it was like to represent the organization at several conferences.

Rick is gearing up for his trip to Tanzania in the fall. View the AlJazeera special on the situation for people with albinism in Tanzania–Part I and Part II.

–Kim


Heather

After arriving in the great city of Boston I went to the hotel where the conference was being held and was immediately greeted by a young photographer named Kevin who was living with Marfan Syndrome. He was such an amazing person and he introduced me to many wonderful people at the conference. I learned so much more about what it was really like living with a genetic condition. I was so moved by all the magnificent people that I met I began to keep a journal about how they changed by outlook on genetic conditions and how they changed my life. I also continued this journal through my other experiences with this internship. Throughout the conference I interviewed many people with Marfan Syndrome and also family members whose lives were affected by the condition. While I was talking with the people Kevin was videotaping the interviews so that was would be able to use parts of the interviews to be put on the Positive Ties website. Within the interviews I asked the people to tell us their story and tell us about their lives. We talked about how their life was affected by Marfan Syndrome, their journey with dealing with health issues, the things they liked to do and particularly what they would like to teach medical professionals so that the professionals could better serve them. In between interviews and meeting all kinds of people I had the opportunity to attend some of the workshops that the adults of the conference could attend so that I could learn more about the things people deal with and must consider on a daily basis. It was very interesting to hear the questions that people would ask and all the things that were explained to the audience. I was able to have a glance of the different aspects of Marfan Syndrome that parents and people living with the condition deal with everyday that I would have never considered.


Kathleen

The Genetic Alliance conference was a powerful reminder of the importance of all support groups having a means of connecting to one another. Though people were representing various conditions and organizations, they shared a desire to support those individuals and parents of individuals with conditions through every aspect of their lives. It was interesting that there were so few medical professionals participating in the meeting outside of giving talks, and even fewer, if any other medical students. Discussions were very thought provoking, and it was very interesting to learn about all of the aspects of direct to consumer genetics. It was wonderful to talk to genetic counselors and support group members side-by-side and learn about what people feel physicians need to know, and it was exciting to be so well received. It was wonderful to hear their suggestions, and desire to help teach those studying to be physicians.

Possibly the most memorable part of the Noonan’s conference was interacting with those individuals who are affected. Walking into a room we were often greeted with smiles, hugs, and an open invitation to be a part of their lives. Speaking to the children, it was interesting to hear, in casual conversation, the mention of being hospitalized or almost “not making it.” These comments came from even children as young as ten, and are not things most ten-year-olds are concerned with, but it was a reminder that to be a part of their lives you have to expect the good and the bad, and still keep on moving. I was amazed at how little they followed the textbook definitions. Upon reading the literature I thought that most people would have mental retardation, and that growth hormone does not work for children with Noonan Syndrome. It turned out that the readings did not completely do justice to the condition. It took only a few moments to realize that most of the children were very sweet and welcoming. It was great to hang out with the kids and participate with them in various activities. I truly do not think that either of us will ever forget the moments we had with the children there, and we will be much more conscious of the needs of those who have additional challenges to face in their lives. We both hope, that we will be able to recognize the traits and needs of people with Noonan Syndrome in the future.

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