About HLH

Dear Friends,

In 2016, I started the Nicholas Volker One in a Billion Foundation to bring awareness to the advantage that genetic sequencing could bring to a diagnostic odyssey. I often wonder if having had the opportunity for newborn sequencing would’ve changed Nic’s path and eliminated the misdiagnoses that affect him to this day.

You know our dramatic story of Nic being diagnosed with an ultra-rare genetic disorder of the immune system called X-linked lymphoproliferative syndrome 2 that was due to a change in the XIAP gene (XIAP deficiency). This is one of the known genetic causes of an overarching group of disease called Hemophagocytic lymphohistiocytosis (HLH), a rare life-threatening genetic disorder of the immune system. Knowing this helped his doctors save his life.

There are a number of genes that cause this condition but we still do not know enough about it. While there are treatments such as bone marrow transplantation that can help there is much we still need to do to improve the care of these children.

Making a catalogue of all of the gene changes (called variants) that cause HLH is absolutely essential. Through my continued efforts to advocate for families with rare disease I have learned that one of the greatest contributions that families impacted by these diseases can do is to gather data. Data can help inspire research and propel clinical trials. It benefits families, researchers and physicians. That is why, I set forth for this foundation, a focus on collaborations between many organizations to gather data about the many variants in the genes that cause HLH. The HLH Registry visual map not only displays each genetic variant, but upon selecting the specific one from the legend, it will take you inside the registry for more information.

I hope that you will consider taking the time to create an account to the specific registry and enter initial data as well as annual updates. As there continue to be updates in HLH, the visual map will be updated.  Additionally, we have volunteer resources that can help gather medical records. If you need help, just reach out.

Thank you and looking forward to hearing from you,

Amylynne