How to Advocate for Your Child with Achondroplasia in a Medical Setting

By Victoria G. as told to PicnicHealth

Jan 05, 2024 • 4 min read

Navigating the complex medical landscape is an imposing journey, and it becomes even more challenging when your child is diagnosed with a rare condition like Achondroplasia. As a registered nurse with a focus on neonatal and pediatric care, and as a mother, I've had to evolve swiftly from a healthcare provider to a steadfast advocate. My daughter Julia, who was diagnosed with achondroplasia in utero, has inspired me to harness every bit of my medical knowledge and personal resolve to ensure she receives the best care possible.

Through this journey, which has been both personal and professional, I've gathered invaluable insights and strategies on advocating for a child with special medical needs. I want to share these strategies with you, to empower and prepare you to advocate effectively for your child's health and well-being.

1. Education and Preparation are Your Foundations

Before every appointment, I delve into research about potential discussions, procedures, or treatments that might arise. Saving and printing out this research is not just a routine—it's a lifeline. I've compiled a comprehensive file, which I fondly call our 'Achon encyclopedia,' that houses verified medical journals and protocols (like those from Nature and the AAP). This preparation turns into a dialogue with physicians, making each appointment more productive and directed.

2. Document Relentlessly

My nursing background has instilled in me the importance of documentation. I can't stress this enough: write down everything—questions, observations, dates, times. This habit helps in painting a detailed medical picture for doctors and specialists. By maintaining a journal and taking photos and videos, I capture nuances and changes that might otherwise go unnoticed.

3. Create Your Advocacy Toolkit

In the past, my go-to system for managing personal health records involved a meticulously organized binder filled with paper documents, specialist contacts, and CDs of medical imaging—all constantly updated and ready for any appointment. Each specialist had their own dedicated tab, ensuring I could provide a complete medical history at a moment's notice. As a benefit to participating in the VISTA study I now use PicnicHealth, a transformative tool that has redefined how I store and access our medical information. This intuitive digital platform offers a consolidated and secure way to manage records across various health systems. With PicnicHealth, I can quickly and easily share our updated health data with any specialist or healthcare provider, ensuring that we have all the necessary information available at our fingertips for the best possible care. It's a new chapter in our healthcare advocacy, one where convenience and efficiency take center stage.

4. Engage Actively in Appointments

For every doctor's visit, I have a running list of questions derived from my research and our daily observations. Each question is dated, recorded, and accompanied by corresponding research references when necessary. There have been instances where a complex treatment discussion was better handled through a dedicated Zoom appointment, ensuring thorough understanding without the need for physical examination.

5. Build a Supportive Community

Social platforms and forums have been a lifeline, connecting me to families and professionals globally. Through these networks, I've accessed the VISTA study for achondroplasia and countless other resources that have informed our journey. Engaging in these communities, sharing experiences, and pooling knowledge is empowering and, frankly, has provided more insight than I could have managed alone.

6. Never Underestimate Your Role

You are the foremost advocate for your child. If something doesn't feel right, it's your responsibility to speak up. Demand copies of all tests, labs, and imaging results. Read the radiologist's report thoroughly. And if ever you feel dismissed or unheard, seek a second opinion—your instinct could be a pivotal factor in your child's well-being.

Advocacy is relentless, and as parents, we do it not because it's easy, but because our children deserve it. Julia's journey has not only strengthened my resolve as a nurse but has also shed light on the necessity of collective, data-driven research for rare disorders like achondroplasia. Through research, community, and advocacy, we're not just navigating a medical condition; we're paving the way for a standardized, enlightened approach to care. My mission, both as a mother and a nurse, is to ensure that Julia, and children like her, have access to a future where their health is not dictated by the rarity of their condition but enhanced by the quality of their care.

So, to every parent out there embarking on this advocacy path, remember: your efforts are never in vain, your voice matters, and together, we are a force for change.

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Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.