Only 10% of people in the HD community have Juvenile Huntington’s Disease. I haven’t written about it because I haven’t experienced it. But after being introduced to JHD through many of the videos, I had to stop, do a little research, and talk about JHD, just in case there were other people like me who were clueless.
Overview of JHD
- Having a CAG repeat of over 50+ repeats can, but not always, result in people having JHD.
- CAG repeats of the father’s gene tend to be less stable and can increase little by little when passed down. It’s not always the case, but most, about 90%, of people with JHD inherit the gene from their father.
- JHD is very different than HD in more ways than just age of onset. Their “needs differ from typical adult-onset Huntington’s disease, in both the symptoms and the ways that it changes the lives of the individuals and families that it affects. JHD presents unique challenges to affected individuals, their caregivers, and the various professionals who are called upon to assist them.” (http://www.hdsa.org/nationalyouthalliance/nya-1/care-support/jhd/index.html)
- JHD tends to progress more quickly than HD, although it varies from person to person. Early symptoms of JHD include leg stiffness, clumsiness of arms and legs, decline in cognitive function, changes in behavior, (in some cases) seizures, speech problems and behavioral disturbances.
The long road to a diagnosis
- Few physicians are presented with patients who have JHD, so they may spend a lot of time ruling other things out. This can lead to a great deal of time being spent eliminating other possibilities. While a neurologist is usually able to recognize a brain disorder affecting the basal ganglia (as is with HD), it can be hard in the early onset of the disease to determine that JHD is actually causing problems like changes in behavior, which can be caused by so many other things, While early signs shouldn’t be ignored, people should also not diagnose a family member because a parent had HD because it could still be a whole lot of other things.
- The genetic test is only part of the picture in diagnosing JHD and should only be done on a minor if there is absolute certainty that the child has JHD. If a result comes back that is not suspiciously high but still in the HD range, the person’s rights could potentially be violated. They could learn they might have adult-onset HD without having given consent.
- Because of all of this, it sometimes takes a while to get the JHD diagnosis, leaving parents frustrated and in need of support. The following professionals can provide support for people with JHD: neurologists, physiotherapist, occupational therapists, speech and language therapists, and dieticians.
(barely paraphrased from: http://www.hdsa.org/nationalyouthalliance/nya-1/care-support/jhd/index.html)
A few final words
While a small percentage of the HD community, children with JHD are important and loved and are every bit in need of the world’s awareness and research findings as the rest of us. Maybe more.
People with JHD are definitely part of our HD Pie in the Face Challenge, and I want to begin to raise more awareness for that small, special group within our group.
Who knows? I may take another pie in the face, just for them!