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.
Dr. Pierson’s Rare Disease Patients Helped by HUCF
The HUCF is an amazing organization!
–Dr. Tyler Mark Pierson MD-PhD, Pediatric Neurologist, Cedars-Sinai Medical Center, Los Angeles, California
By providing the means for families who cannot afford genetic testing, I have seen firsthand how the HUCF provides a way that they can answer questions that can help their families understand what is happening with their child. Without the HUCF, these families would remain in a limbo of uncertainty and concern about what they should do to support their child, a place where no family lives with ease. A genetic diagnosis not only provides an answer to their question of what is happening, but it opens a door for them to understand their prognosis and therapies that are available.
The service that the HUCF provides can introduce families to a community of other families going through a similar situation that can provide support and insight into their child’s needs. This support can also open avenues of research and better understanding the science behind their disorder. This valuable service that HUCF provides can even open the potential opportunity for them to join trials of interventions that may help their child.
Dr. Tyler Mark Pierson MD-PhD, Pediatric Neurologist, Cedars-Sinai Medical Center, Los Angeles, California
Adrina Reistad’s Story
HUCF provided us with expert guidance and resources we simply couldn’t find anywhere else. But more than that, they made us feel truly seen, heard, and supported for the first time in our journey. Thanks to their tireless advocacy and support, we are finally on a clearer path to understanding Audrina’s condition. We are forever grateful!
-Nina DiTomasso, Audrina’s mother
At three-years-old, Audrina Reistad was diagnosed with an extremely rare genetic mutation
called WDR45 BPAN. Due to her developmental delays, from prematurity and the rarity of her
condition, her family was desperate for a second opinion. They wanted to be sure of the
genetic testing results so they could move forward confidently with the most appropriate
medical treatment for Adrina.
Before they found the Help Undiagnosed Children Foundation (HUCF), they were overwhelmed
and frustrated. Outreach to several hospitals and genetic neurologists, found that no one was
willing or able to help us. The emotional toll was heavy, and they felt that they were running
out of options.
Then they discovered HUCF, and everything changed. From the very beginning, they were
guided step by step through the process of obtaining a second opinion. First, Dr Li reviewed the
original genetic test results and concluded that, rather than doing another genetic test, a re-
analysis of her prior whole exome raw sequencing data could be offered for Adrina. It was
explained through the re-analysis; it could possibly confirm the prior finding of the extremely
rare WDR45 BPAN genetic mutation and possibly find other variants not revealed by the
original genetic testing. Audrina’s family and new doctor readily agreed to the re-analysis, and
the results confirmed the WDR45 BPAN genetic mutation and found two new variants. At the
family’s request, Dr. Li coordinated directly with Audrina’s current neurologist, to better
understand the findings and thereby helping them make informed decisions about the next
steps in her care.
Adrina’s family from left Nina (mother), Ardin, David (father) holding Adrina.
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 (HUCF) 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. HUCF, understanding the family dynamics of rare diseases especially when presented in childhood, walked with the family over the next two and half years and were 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, mother Jessica, Emy and father Sal
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.
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.
