How a late-infantile Batten disease diagnosis led to advocacy

Have you ever had the perplexing experience of opening a book and seeing it blank? The pages should include some relevant material, but all that’s present is emptiness.

I experienced that sense of bewilderment and ambiguity when at last I realized the truth about what my son, Juju, was facing. Our lives had been like a well-written book with material that was easy to understand, until suddenly nothing made sense.

When Juju was 3 and a half years old, the words in our book started to fade.

I was working as a reporter for the Social Security court in 2019 when I got a call from Juju’s child care center, saying that he’d had a seizure. That’s when the words in my book started to blur. The news devastated me, but I refused to give up. Instead, I decided to fight back with everything I had.

Following a great deal of testing and multiple ER visits, Juju was diagnosed with epilepsy, which I grudgingly accepted and thought I could live with. However, life had different plans for us. The old book that had formerly described our simple life was no longer available.

The search wasn’t over

The epilepsy diagnosis wasn’t Juju’s last. He would eventually be diagnosed with late-infantile Batten disease, but getting there was a nightmare. Batten disease is often misdiagnosed, especially in the early stages, and receiving a diagnosis required much research and advocacy on my part.

I started that part of the journey by investing many hours researching my son’s symptoms, which included troubles with speech development and motor abilities, such as sitting and walking. I was also familiar with genetic testing, which helped me hone in on Batten disease as a strong possibility.

I contacted specialists around the world and connected with other parents who were going through similar struggles. I read a ton of medical books.

Juju was finally diagnosed on May 28, 2021, after we had waited a year for genetic testing.

The birth of an advocate

Equipped with my newfound expertise and driven by love and affection, I eventually grew into my new role as an advocate committed to altering the perception of rare diseases.

My desire to advocate went beyond helping my son, who is now 7, get better, and beyond the limitations of my family’s hardships. In my ideal world, every family affected by a rare disease should have access to a prompt diagnosis, appropriate treatment, and strong support networks.

To achieve this goal, I’m now focusing my efforts on educating the broader community about rare diseases.

Being an advocate hasn’t come without difficulties for me. Many obstacles, annoyances, and letdowns have been part of the journey. But I’ve maintained my composure and haven’t lost sight of my objective.

My perseverance never ceases to amaze me and serves as a reminder that even the tiniest moves in the right direction can have a big impact. My family’s journey in the world of Batten disease has encouraged us to find blessings, even in the smallest of things. We celebrate each milestone, big or small, and find joy in the precious moments of respite and peace.

With this leap into the next chapter of our book, we embark on pages marked by unwavering hope, resilience, gratitude, and determination to find beauty and silver linings in the face of adversity.

Note: Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Batten disease.