Zoli’s Story
Zoli (left) diagnosed with X-linked Adrenoleukodystrophy (ALD) since 2020, and his family.
Our journey with X-linked Adrenoleukodystrophy (ALD) began in 2020, shortly after our son, Zoli, was born.
What started as a blissful life as now a family of four quickly shifted when we received a call about Zoli's newborn screening. At first, the news didn't seem alarming, but follow-up tests confirmed the diagnosis: Zoli had ALD, a rare genetic condition we had never heard of, one that turned our world upside down.
The weeks that followed were filled with fear and uncertainty as we grappled with understanding that ALD is a rare, genetic disorder that affects the nervous system and adrenal glands. A child appears healthy but could develop adrenal insufficiency and brain lesions, particularly in the white matter of the brain, caused by the accumulation of very long-chain fatty acids (VLCFAs) due to a genetic defect in the ABCD1 gene. Learning about ALD felt like learning a new language.
My husband, Ricky, and I sought answers from specialists, including Dr. Florian Eichler at Mass General, whose calm approach offered us something we desperately needed—hope. His words, "enjoy your baby," became a mantra for us. With regular monitoring and the support of a dedicated medical team, we were able to focus on the present—Zoli was healthy and happy, and that was what mattered most. This journey has revealed some unexpected challenges. I tested positive and as a female with ALD, I began to recognize mild symptoms in myself. We also discovered that our daughter, Rainey, has the same genetic mutation, which added another stressor.
Through it all, Ricky has been my rock, always there to remind me of the strength we have as a family. Together, we’ve built a strong support network—our team of specialists, the ALD community, and, perhaps most importantly, each other. The ALD moms I’ve connected with have shown me resilience in its purest form, reminding me that we are not alone. It was through this experience that I realized the need for advocacy and awareness around rare diseases. Driven by a passion to make a difference, I decided to pivot my career, joining the Center for Rare Neurological Diseases at Mass General, where I now work to support families like ours. Additionally, I am proud to serve as a member of the Massachusetts Newborn Screening Advisory Committee, working to ensure early detection for other children like Zoli.
Now, as we move forward, we choose gratitude over fear. Zoli has adrenal insufficiency, but his brain MRIs thus far have come back clear, and we are endlessly thankful for the early detection that saved his life. While ALD will continue to be a part of our lives, we hold on to the love and support surrounding us, the advancements in research, and the joy Zoli brings to us every day.
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