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Annabelle's Story

Annabelle's journey with Morquio syndrome began when she was diagnosed unusually early during her 4-month pediatrician appointment. It all started when I noticed a peculiar curve in her lower back, leading us on a diagnostic odyssey that included x-rays, two months of repeat labs, a urine test, and a skin biopsy. The definitive diagnosis of MPS IV, also known as Morquio syndrome, was confirmed when she was just six months old.


In the months that followed, my spouse, Austin, and I embarked on a quest for knowledge and treatment options. We visited numerous hospitals seeking second opinions and diligently researched this rare disease. We reached out to doctors and researchers within the United States and abroad, but the response remained constant – there was no cure, no established treatment, and limited ongoing research. It was a disheartening realization that led to profound grief as we adjusted to this new world of endless doctor's appointments and interactions with people who had never even heard of Morquio syndrome.

Nevertheless, our resilient Annabelle continued to thrive, seemingly unaware of the challenges ahead. At just two years old, she underwent her first major surgery to decompress her cervical spinal cord and stabilize her neck, a common symptom of Morquio. Despite the enormous halo immobilizing her, she quickly adapted and continued to dance, sing, and play.


When Annabelle turned four, she faced her second and third major surgeries, this time to reconstruct both of her hips. The damage from Morquio had severely altered the bone structure in her hips, causing immense pain and mobility issues. After two surgeries and a challenging six weeks in a Spica cast from chest to ankles, she began a year of intensive physical therapy. Through dedication and strength, she learned to crawl, walk, and climb stairs, a testament to her indomitable spirit. Our orthopedic surgeon, Dr. Mackenzie, played a crucial role in her remarkable recovery.


In addition to these major surgeries, Annabelle had to endure other minor surgical procedures, hearing loss, corneal clouding, and countless doctor's appointments. Throughout this journey, I took on the role of an advocate, raising awareness, organizing fundraising efforts, and connecting with Morquio families worldwide. We even funded three research initiatives, two of which were formal grants through the National MPS Society, aiming to advance Morquio research.


In 2011, Annabelle joined an enzyme replacement therapy clinical trial with BioMarin Pharmaceuticals to slow the progression of the disease. This endeavor led to the FDA approval of Vimizim on February 14, 2014, resulting in a significant improvement in her stamina and overall well-being since she started the trial in September 2011.


Today, Annabelle is not just surviving but thriving. She's gearing up for college in the coming year, a remarkable testament to her resilience and the power of medical research and advocacy

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