Navigating Juvenile Huntington’s Disease

“Sometimes superheroes reside in the hearts of small children fighting big battles.” – Author Unknown

Any parents who have or had a child with a terminal illness know the heartache of watching their child suffer and the heartache that it brings. Navigating through the world of Huntington’s disease (HD) is especially difficult at times, due to the lack of knowledge, awareness, and providers that are familiar with the disease. The Juvenile Huntington’s disease (JHD) world has its own set of challenges, from difficulty getting a diagnosis to even fewer providers that know about JHD to unrecognized symptoms that appear in JHD. The inability to receive a diagnosis of Juvenile Huntington’s disease in a timely manner can make a big difference in the way a child is treated. For example, children with JHD are often misdiagnosed with ADHD and treated with medications that can actually make JHD progress more rapidly. It can also make day-to-day activities difficult for families when a potential diagnosis is looming over their heads. When a child is at risk for HD, and he or she begins to have symptoms that could be HD-related, it can be very difficult for the parent to not wonder if it could be JHD. Every little misstep, fall, change in behavior can trigger worries in the parent.

Being the parent of a child who is at risk for HD is scary, especially when symptoms appear in

childhood  or adolescence. I’ve been navigating the JHD world for over eight years, beginning when my son Aidan started having symptoms at the age of four. It is both frustrating and heart wrenching. I know the fear of JHD and the anxiety of waiting for two years to receive a diagnosis

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Aidan started to show mental health symptoms such as aggression, agitation, and obsessive-compulsive behaviors at the age of four. His physical symptoms were only a few months behind. Aidan began falling more frequently, walking on his tiptoes, and having difficulty with balance. He also started to have staring spells, which were suspicious for petit mal seizures. I spoke with his preschool teacher and asked her to keep monthly handwriting samples so that I would have those to take with me to our neurology appointment that was still nine months away, since handwriting difficulty is one of the symptoms in JHD. Being an RN (registered nurse), I was very involved in our local medical community, so I started to research providers that I could reach out to. The hours I spent researching, making phone calls, and worrying were all-consuming. Once we received a diagnosis, even though it wasn’t the outcome we had hoped for, we were able to move forward with finding a specialist and focusing on how my son’s JHD was going to be treated.

After Aidan’s diagnosis, I became very involved in the JHD community, raising money for research, advocating, spreading awareness, networking with providers across the country, and working for Help 4 HD International, a non-profit that is committed to the HD/JHD community. Working so closely in the community was cathartic, even as we lived through some of the worst days of our lives. The amount of love and support that I received from the HD/JHD community, both families and professionals, local and worldwide, has been wonderful. It’s a club that none of us want to belong to, but I have met some of the most loving and caring people along our journey.

Over the last eight years, I have experienced care for my son through several different providers and specialists. There are a couple that stand out in the care that Aidan received. University

of Iowa’s Center of Excellence played a pivotal role in Aidan’s care. Their medical and professional staff are very knowledgeable about JHD. They are compassionate, caring, and understand that a diagnosis of JHD encompasses caring for the family as a whole. The support and care that we received was second to none, and I am grateful for their time and passion for treating children with JHD and their families. Unfortunately, since we live four hours away, having continuous care with them was almost impossible, especially as Aidan became more symptomatic, so we only had the opportunity to see them once a year. Aidan had been getting his regular JHD care from a local HD provider, but we didn’t feel that it was the right fit, so about three years ago, we switched the rest of Aidan’s care to our local Children’s Hospital. While none of the specialists had specific knowledge and experience with JHD, all were more than happy to research and gain knowledge on how to best treat Aidan. They listened to my concerns, and we established a wonderful team for Aidan. I went with my gut, and Aidan received the best care these last three years.

In 2015, I had the pleasure of meeting the regenerative medicine team from Dr. Jan Nolta’s lab at UC

Davis in California. I was able to tour the lab where regenerative medicine research is being done for JHD. It was a wonderful experience, meeting with their team. Seeing and hearing their passion, compassion, and overall love for the HD/JHD community was humbling. They are truly warriors in this fight against HD/JHD, and I feel very fortunate to have been able to get to know all of them and also to have had the pleasure of interacting with them throughout the HD/JHD community.

Unfortunately, on March 7, 2018, I became a member of another club no parent wants to be a part of. Aidan lost his battle with JHD at the young age of 12. We thought we had another year or so, but JHD had other plans. The last two months of his life were spent in and out of the hospital. Without the support of my family and the HD/JHD community, I wouldn’t have been able to make it through the worst experience of my life. Two months later, I still have so much love and support from the

community, and I know that will continue. I feel very lucky to be a part of this community. I encourage everyone who has a family member with HD or JHD to become involved in some way. There are many ways to become involved: online, working with non-profits, hosting an event, educating and awareness, research. Being involved and getting to know others who are in similar situations can be very helpful and can make you feel less alone in a world that can be very lonely at times.

Although Aidan left this world way too soon, I still will be involved with the HD/JHD community, and I live in hope that a cure will come soon so that no one else has to suffer at the hands of this awful disease. I will continue to fight in Aidan’s name and hope that no parent has to experience what I and so many other parents of children with JHD have experienced.

Aidan and his family are featured in the award-winning documentary The Warriors: Fighting the Incurable Juvenile Huntington’s Disease. With a suggested donation, the documentary is available for virtual download, or you may order a copy of the DVD. Information can be found here: https://help4hd.org/events/the-warriors-fighting-the-incurable-juvenile-huntingtons-disease-is-