From Neonatal Nurse to Achondroplasia Advocate: My Journey of Care, Research, and Hope

My name is Victoria Garcia and I am a Registered Nurse that has committed my entire career to the care of neonates, infants, children and postpartum mothers. As a nurse for 12 years, I have firsthand experience of witnessing the challenges parents face when making extremely difficult medical decisions for their children. I take great pride in assisting families through their various diagnostic and treatment journeys. Little did I know that my medical experience in the treatment of babies would become vital to my family in June of 2022.

All of my medical experience could not possibility have prepared me for my routine, 32 week ultrasound where I was informed that my baby girl, Julia, had severe shortening of all her long bones. This resulted in a medical emergency with my physicians searching for the cause. I will never forget the devastating call I received from my medical team with the discussion of skeletal dysplasia as being potentially fatal to her. Specialists were unsure the type of skeletal dysplasia Julia had. My family has had to endure the trauma of procedures and many medical tests performed in the weeks leading up to my delivery. The vast majority of my 3^rd trimester is a complete blur of navigating the medical system, coping with the unexpected financial burdens of a major medical condition, and receiving the final diagnosis of Achondroplasia through genetics.

Thankfully, Julia was born without complications, and now at 14 months, Julia is thriving and a complete joy to our lives. A major factor in coping with the treatments for Achondroplasia is finding doctors and specialists who are familiar with protocols. Social media pages and boards have been an essential key in connecting with other families around the world through our shared experiences. A community has been created where we can bounce ideas off each other and give recommendations for treatments, care, and physicians.

It is on these same forums that my passion for research and advocacy come together. One of the first things I did when learning of the diagnosis was to read every medical journal and literature I could find. From my research and nursing experience, I am able to provide parents going through their own diagnosis with crucial information. I listen to their concerns and help guide them from a nursing perspective with tips to advocate for their children and advice for appointments. When caring for a child with a rare disorder, up-to-date information and research of best practices can be lifesaving.

I became aware of the VISTA Study through connections with others I have made in the community. Joining the VISTA study for Achondroplasia was important to me because collective, databased research is needed with rare disorders. Research can help analyze risk management, complication prevention, and therapeutic development to provide children living with achondroplasia a better future for their health.

As Julia grows, I want to continue to provide her with the best medical practices and advances. I am proud to say that she is very determined and works hard to meet milestones. It is imperative for me to meet Julia’s determination with my own as her biggest advocate. I want to encourage parents embarking on their own advocacy journey to know that you can and will make a difference for your child. On days where it feels overwhelming, know that you are capable and there is a community of strong parents and organizations ready to support you.

My hope for the future is that there is a standardization of care for patients with Achondroplasia. It is needed both in receiving a diagnosis and in managing treatment. I believe this can be achieved through fundamental research and data. As a nurse and mother, I am honored to watch my career come full circle in the form of research contribution and care of my daughter. It motivates me to do all that I can to ensure she is happy and healthy and it has been a blessing to share our story.