Editor’s Note: February 29 is Rare Genetic Disease Day—a designation aimed at raising awareness about rare genetic diseases and why proper testing is imperative. Photographer and local mom Karen Haberberg has a family connection to the genetic condition Tay Sachs Disease and is hoping to use her passion and skills as a photographer to help raise awareness and change lives about such diseases. We are happy to help her spread her message and tell the stories she hopes to tell.
Here are some basic facts about rare diseases:
- 80 percent of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
- Approximately 50 percent of the people affected by rare diseases are children
- 30 percent of children with rare disease will not live to see their 5th birthday
- Rare diseases are responsible for 35 percent of deaths in the first year of life
- In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group.
I am photographer looking to publish a photography book on Rare Genetic Diseases that affect children.
I am the sister of a brother who died of a genetic, neurodegenerative disease before I was born. I still witness the pain my parent’s experience from the loss of their child to Tay Sachs Disease over 40 years ago.
These were the situations in previous years when groups of parents like mine sought out one another; their purpose: to raise funds to stimulate research that would make treatment and cures a reality for other families’ children.
Today, what still exists are too many families that still bare the unbelievable agony of a genetic disease diagnosis without the benefit of an immediate reservoir of source information and equally important, information of personal experiences of parents who live the day by day, month by month and sometimes year by year lives with rare genetic diseases. They are out there throughout the world and needlessly alone in their pain.
My purpose of photographing the families who face the life-changing impact of genetic disease, is to raise awareness and funds to stimulate research for treatment and cures and mitigate their feeling of isolation.
Please let me know if you know of anyone interested in being photographed and interviewed. I am actively looking for participants for this project (see contact information below).
Click HERE to see one family that I photographed and interviewed. They are a warm, loving, optimistic family. Colleen discovered she was a carrier of Tay Sachs after she was already far along in her pregnancy. Her husband was tested and the test came back negative. When their beautiful little girl Mackenzie didn’t reach certain developmental milestones, they began to look for a diagnosis. It took two years until they got the proper diagnosis: Tay Sachs.
Colleen’s husband wasn’t tested for the full panel of Tay Sachs mutations because insurance didn’t cover it. Their doctor and geneticist didn’t suggest it, and as a result they have a child who may not see her 5th birthday. Please help spread the word.