Standing Up for Juvenile-Onset HD
Jenna Heilman, HDYO Executive Director
JHD is ultra-rare, with an estimated five percent of all HD cases being classified as JHD. Receiving a diagnosis for these patients can be incredibly challenging for several reasons: there is a lack of awareness of JHD and how its symptoms can present very differently from adult-onset HD. Symptoms can be difficult to distinguish from another adolescent disease, syndrome or developmental disorder; and, there are significant ethical concerns regarding genetically testing a minor when their symptoms may not be related to HD.
Symptoms can include things as seemingly benign as having trouble with focusing at school to more severe symptoms like seizures and rigidity in movement. Together, this makes accurate estimation of disease onset, and in turn, the true prevalence of JHD, next to impossible.
Relatively few research efforts have focused on the experiences of both the JHD patient AND their caregivers. These families endure a tremendous burden in their day-to-day lives as they manage and cope with an advancing, debilitating disease while also often struggling with a lack of resources, knowledge, and support (both financial and services).
Over the past few years, the Huntington’s Disease Youth Organization (HDYO) has been strategizing how to begin understanding the global impact of JHD and how it has affected the core family. In February 2021, the Juvenile-onset Initiative for HD (JOIN-HD) began enrolling.
JOIN-HD is a global registry open to people who have symptoms of JHD and their caregivers, to provide information on those who are living and on loved ones who have passed. This will allow us to advocate for improvements to care, research and awareness. We hope this platform will encourage other scientists and clinicians to carry out much-needed research into this devastating disease.
JOIN-HD is currently in Stage 1, which focuses on recruitment and collecting demographic information of participants. HDYO is in the process of developing Stage 2, including using an enhanced user interface and going through ethics approval in order to collect medical history and experiences. Stage 3 is still being realized and could focus on clinician-led interviews and further details into family history.
HDYO realizes that families impacted by JHD often struggle with finding any extra time due to the needs of their family. JOIN-HD is an online set of short questionnaires that can be done in the comfort of one’s home at their leisure. They can come in and out of the platform as needed, so the time commitment can be broken up, if desired. If someone is interested in participating, they can pre-register for the registry. Then, one of our coordinators will interview them to ensure they are indeed impacted by JHD and review the next steps. Finally, the participant will be given a secure login to self-enroll on the JOIN-HD platform and complete their surveys.
JOIN-HD recruitment has taken off with partnering associations and clinicians encouraging families to participate.