Today is CdLS Awareness Day. Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally (cdlsusa.org). Today’s awareness day for CdLS is to shed a light on the often misdiagnosed and unheard of syndrome.
Here at NORD, to spread awareness, we would like to spotlight our volunteer Norman (we call him Norm here) Winnerman, whose grand-daughter, Alison, passed away from the syndrome in 1994.
Norm’s family was very fortunate to get a correct diagnosis within a couple of days of Alison’s birth in 1989. When Alison was transferred to a top hospital in Providence, RI, “A very knowledgeable geneticist was able to see her symptoms and diagnose her right away,” he explained. From then on the family knew that they were going to have a rough road ahead. Norm immediately got started researching ways to help Alison and learn more about CdLS.
Norm was aware of NORD and called the office to learn more about CdLS. He was referred to the CdLS Foundation, Inc., one of NORD’s member organizations that specializes in the rare disease. He then called the foundation and was given an abundance of helpful information by one of the founders and Executive Director, Julie Mairano.
When Alison was old enough to withstand the journey to a family gathering, Norm, Alison, and the whole family drove to Maine for their first family meeting. “It was great to meet other parents and children of all different ages living with CdLS. We noticed the similarities in our children and connected with the other families.”
At that patient meeting in 1991, Norm was asked by Julie Mairano to work with others to help organize a national conference that was going to be held in Boston in 1992. It would serve as a way to assist the patients with doctor consultations, give them more knowledge of the disease and create awareness. The committee, chaired by Peter and Kathy Wagner, successfully hosted their first conference in Boston where patients received free consultations with doctors and met families from all over the country.
Retiring in 1992, Norm was asked to serve as Conference Chair and served almost 18 years in that capacity. Norm continues his work with CdLS today by serving as Assistant Conference Chair and helps to plan their biennial conference. He will be working at the Annual New England Golf Tournament soon that will raise funds for the foundation and create awareness for CdLS.
When asked why Norm spends his retirement in the NORD office and traveling around for CdLS in support of the organization he jokingly states, “It keeps me out of trouble,” then takes a serious tone and says, “It’s a labor of love. It really is. CdLS is my first love [and helping these children].” Norm is a true asset to the NORD office and the rare disease community by being committed to serving not only CdLS patients but patients of various rare diseases.
To learn more about CdLS and how you can raise awareness, visit www.cdlsusa.org.
On May 15th, International MPS Awareness Day was observed. For most of the world, this was not a grand event. From what I could tell, it was business as usual — just an ordinary day. But “ordinary” is something that people living with rare, complex and chronic disorders can only imagine. read more >
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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