About 17 million children in the United States have debilitating rare genetic diseases and 30% of those children will not live to see their 5th birthday.
For many of these affected children, it may take years to receive the correct medical diagnosis, taking a real toll on struggling children and their families. With the advent of next generation genetic sequencing supplying faster medical diagnoses, now more than ever before, truly personalized treatment is readily available. Unfortunately, diagnosis is still beyond the reach of so many of these kids who have complicated and novel genetic diseases, and whose families do not have the financial resources or medical insurance to pay for generic testing, which can cost thousands of dollars.
The Help Undiagnosed Children Foundation was created to help these sick children who fall into this crack between the need for the genetic testing and not receiving the genetic testing because their families do not have the resources to cover the testing cost.
HUCF can step in and pay for the genetic testing, so these children obtain the correct medical diagnoses and their medical care closely tailored to their needs. This can dramatically increase their very chances of survival and to transform their lives and those of their families. Then they have the prospect of living longer and maybe the chance to experience the joys of smiling, walking, running, playing and learning.
Dr. Wenhui Laura Li
Dr. Wenhui Laura Li is a board certified clinical molecular geneticist. She is passionate about using innovative genomic technology to help sick children to obtain the correct medical diagnosis they deserve. She had previously worked at Children’s Hospital Los Angeles (CHLA), the top Children’s Hospital in California which treats children from all over the western United States. As the head of CHLA’s genomic laboratory, Dr. Li saw what a profound effect early genetic testing could have on a child’s entire life. For a troubled newborn who received the genetic testing and correct medical treatment within the first 2 weeks of life, that meant she would not be disabled for her entire life! For another child it meant that after his genetic testing, his metabolic disorder could be successfully treated to greatly enhance his overall quality of life.
She also saw the heartbreaking consequences when sick children, many of whom had waited for years to obtain the correct medical diagnosis, could not receive the genetic testing they needed because their families could not cover the testing cost themselves or through medical insurance. These children continued to struggle because they were not able to receive the medical diagnosis they deserved. As a doctor and a mother, Dr. Li, had to do something tangible to help these suffering children, so she set up the Help Undiagnosed Children Foundation as a 501 ((c)(3) non-profit organization to make a real difference.