Who We Help
Our reason for being is to help as many sick children as possible through the age of 21 years, who may have a rare disease to access the genetic testing they need. In this way, based on the genetic test results they may be able to obtain the correct medical diagnosis and the personalized medical care they deserve.
When a rare disease diagnosis occurs in childhood, those affected have the best chance of survival and a more meaningful life. By sharing stories of patients and their families that the Help Undiagnosed Children Foundation (HUCF) has been able to help, we want other families to better understand the profound difference that genetic testing can make during childhood. We hope they will reach out to HUCF to give us the opportunity to help.
Update on the Jemente Family’s Rare Disease Journey
HUCF didn’t just give us answers. They gave us hope, stability, and the confidence to move forward with a stronger future for our girls—and for our whole family.
-Jessica Jemente and Family
The Help Undiagnosed Children Foundation met the Jemente family in the fall of 2022, when we reached out to them after learning that their youngest daughter, 2-year-old Emy, had been denied genetic testing coverage by their insurance carrier. The family’s 5-year-old daughter, Mya, had already been diagnosed with NF1, a type of neurofibromatosis, a rare disease which causes tumors to grow on nerve cells. It was devastating for the family to find themselves in the dark, again, not knowing what was causing their youngest daughter’s medical problems. They needed to know whether Emy also had NF1, so they desperately wanted the genetic testing done for her as young as possible. HUCF was able to step in to cover the genetic testing for Emy which revealed that she has a rare variant of NF, known as Schwannomatosis LZTR1, characterized by pain and can be accompanied by numbness, tingling, muscle weakness and loss of function.
Stunned with Emy’s diagnosis they consulted with her doctor who requested that the parents also be tested for Schwannomatosis LZTR1. Understanding the family dynamics of rare diseases especially when presented in childhood, HUCF walked with the family over the next two and half years. HUCF was able to provide genetic testing for the parents, Jessica and Sal, and even retesting for Mya to see if she in fact had Schwannomatosis LZTR1 (she does not). Knowing that the parents did not have Schwannomatosis LZTR1, and having the diagnoses for Mya and Emy, was a turning point for the family. For the first time, they had answers, clarity, and most importantly, they had a path forward.
Now, with targeted care plans in place, Jessica explained that their daughters are thriving! Mya is making progress in school, building stronger friendships, and both daughters are engaging more confidently in everyday life. As a Navy family (Sal is active-duty Navy) they face future duty stations, and now carry their diagnoses with them, powerful tools that help them advocate for their needs and ensure seamless, informed care wherever they go.
Jemente family photo, from left; Mya, Jessica (mother), Emy, and Sal (father)
Sariah VanZandt’s Story
I am so thankful for HUCF for opening the door for helping us receive the genetic testing we so deeply needed. Our future for preventative care for our daughter looks brighter, we are glad to share Sariah’s story to help other rare children alike. There is hope with HUCF!
-Christina VanZandt, Sariah’s mother
As a family, the VanZant’s were determined to find out why Sariah, at four years old, was losing her vision, losing hand function and having trouble walking and suffering from fatigue and pain.
It had been a long four years not knowing how to truly help Sariah. She had started life with challenges, born with involuntary eye movement, called nystagmus with low vision, she had low muscle tone, and was failure to thrive at birth. She was referred to genetics, neurology, and ophthalmology. Genetic testing found a few mutations, but were of “uncertain significance.” Sariah continued to struggle as she got older with difficult physical therapy and decreases in other functions. Her doctor recommended further genetic testing. Their medical insurance would not cover the cost, so Christina searched for assistance and found the Help Undiagnosed Children Foundation (HUCF).
After the HUCF sponsored genetic sequencing, Sariah was found to have albinism, NEFL, and a Kif1a mutation. With these findings, it supported what was suspected that she has a neuro degenerative condition. Those afflicted, are known to have seizures, vision loss, albinism, and peripheral neuropathy symptoms. After receiving test results from the HUCF genetic testing, her treatment plan has changed, and her doctors are watching her closer. An exciting development for the family is that now Sariah has been accepted into an outside medical study after they reviewed her latest genetic test results. Over a year ago her doctor had applied on her behalf for this medical study but Sariah was not accepted at that time.
The VanZandt family now has renewed hope and a better understanding of Sariah’s medical path and the support she needs to move forward for her best life.
