How We Help
Helping sick children with rare genetic diseases to receive the genetic testing they need and in turn to receive the correct medical diagnosis and personalized treatment is a collaborative process.
Our reason for being is to help as many sick children as possible up to the age of 21. To do so, the Help Undiagnosed Children Foundation (HUCF) builds alliances with a variety of groups, organizations, and healthcare professionals to find sick children in medical and financial need of genetic testing. Our outreach also includes direct contact with parents of sick children who may well have a genetic disease. When a rare disease diagnosis occurs in childhood, those affected have the best chance of survival and a more meaningful life.
HUCF’s founder, Dr. Wenhui Laura Li (board certified clinical molecular geneticist), reviews the sick child’s specific genetic testing as requested by their doctor. If HUCF is able to help, the patient’s family is notified and whether the testing will be done at a reduced cost, or no cost. HUCF then coordinates with the organization/patient’s family through all of the steps from sample collection to the testing process by HUCF’s certified genetic testing laboratory to when the results are sent to the child’s physician. At that point, the MD arrives at a medical diagnosis and a more targeted treatment plan to relieve the young patient’s suffering.
Our reason for being is to help as many of these sick children as possible by making genetic testing available to families in financial need at a reduced cost, or no cost, depending on the specific genetic test required. With the correct medical diagnosis, the child can receive the personalized medical care they deserve.
The Help Undiagnosed Children Foundation participated in the Children’s Tumor Foundation (CTF)’s Shine A Light NF Walk held on October 21, 2023, in Long Beach, California. Through this event, HUCF was able to talk directly with families of children who have, and might have, neurofibromatosis (NF), a rare disease which causes tumors to grow on nerve cells, as well as to meet doctors who treat those affected by NF and its variants. It was also a wonderful opportunity to support the Jemente family that HUCF has helped and who also participated in this event. The family’s 5-year-old daughter had already been diagnosed with NF1. HUCF was able to step in to cover the genetic testing for their 2-year-old daughter who also had symptoms, only to discover that the youngest has a rare variant of NF, which is known as Schwannomatosis. Further help from HUCF has been available for the family through genetic testing for the parents at the request of the daughters’ doctor. In this way, the doctor will have a fuller picture of the genetic issues for the entire family so they may all move forward to obtain the best medical treatment and outcomes for all family members.
