By Rachel Buerman, NFED Liaison
I am a pharmacist and my husband is a special education teacher with a license for both learning disabilities and emotional behavior disorders. For both of us it is important that we are comfortable reading, understanding and analyzing research articles and clinical trials that are published in professional journals. We both take a very analytical approach to problem solving and look for as much data as possible to help us make informed and educated decisions.
After our youngest daughter was diagnosed with a type of ectodermal dysplasia called Focal Dermal Hypoplasia (Goltz Syndrome), our analytical minds turned directly to the medical journals and research to find more information. We searched and studied the various medical journals. We found almost NOTHING. A lot of the journals we found were at best out of date.
With an empty feeling from the small pool of information available, we turned to the specialists. Surely we could find a practitioner that could help us. We went to various appointments hoping that somebody had experience with Goltz Syndrome specifically or ectodermal dysplasia in general. We went to the dermatology department at the University of Minnesota where the doctor that published most of the journal articles, Dr. Goltz, spent part of his career. While the visit was a good experience and we met Dr. Goltz, we didn’t learn any new information. Some specialists we went to even GOOGLED Focal Dermal Hypoplasia and Goltz Syndrome right in front of us. For 2 professionals that are used to being scientific-minded and detail-oriented, this was very frustrating and disheartening. As parents we were left thinking “How can we help our daughter if there is no information out there?”
Fast forward to July 2010. We attended our first National Foundation for Ectodermal Dysplasias (NFED) family conference. We loaded up the car and headed to Colorado Springs, Colorado. We met other families affected by various forms of ectodermal dysplasias including Goltz Syndrome. This was a life changing experience for us. We learned more by listening to others experiences over a couple of days than we had in all of our previous attempts combined. This initial experience stuck with us and has turned us into regulars at the NFED family conference.
The NFED family conferences created conversations that turned into a study involving Goltz patients. This event was the largest gathering of patients with Goltz Syndrome EVER. While the doctors collected the data and did their research the families conducted their own studies in the hallways and waiting areas. The families shared life experiences and names of specialists that embraced the syndrome. Children played with others just like them. Some, for the first time ever. It was during these interactions that we unknowingly transitioned from seeking information to volunteers. We learned that beyond fundraising and all the items that can scare people away from becoming a volunteer, there are connections to be made. Connections that can create hope or be a voice of comfort in a moment of need.
We are involved with and volunteer for the NFED because we believe that together we can move mountains. Together we can help each other. Together we can raise awareness. Together we can conduct the much-needed research. We are honored to say we are part of the NFED and can’t wait to see what the future holds.
Rachel Buerman lives in Minnesota with her husband Chris and their two children. Her daughter Jordan is affected by Goltz syndrome. Rachel volunteers as a Family Liaison for the NFED.
Are you interested in volunteering for the NFED? Visit the NFED Helping Hands page.
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