The journey of Janet's family into the world of achondroplasia began unexpectedly when their baby girl was diagnosed at four months old. Janet remembers the day vividly, a mix of confusion and resolve to understand this unfamiliar condition.
Janet and her husband noticed something unique about how their baby held her hands. During a routine pediatric visit, the pediatrician also observed that the baby wasn't growing as expected for her age. X-rays and a subsequent blood test confirmed the diagnosis of achondroplasia. The family rallied together, the siblings embracing their sister with unconditional love and support. "That's ok. She's our sister. We love her," they said, as the family embarked on a journey to learn all they could about the condition.
Janet's daughter didn't let her diagnosis define her. She thrived in activities that were age-appropriate and safe. Her days were filled with singing, dancing, skating, and helping around the house. "She enjoys dancing, singing, and is very active in her church and school community," Janet proudly shared. Her enthusiasm even extended to a social media platform, where she kept family and friends updated on her adventures.
For Janet, research is a beacon of hope. She believes that understanding achondroplasia at a deeper level can lead to preventative measures and breakthroughs in medicine. "Research is extremely important to me," she explained, underscoring her commitment to participating in studies that could benefit individuals with achondroplasia.
Janet's advice to others in similar situations is heartfelt and practical. She emphasizes the importance of understanding the diagnosis, having a supportive medical team, educating the community, and ensuring that the child engages in safe, age-appropriate activities. "They should definitely not be isolated from their peers but really enjoy life as a child," Janet advises.
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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.
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.
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.
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.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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Explore the essential takeaways from Victoria's Webinar, along with some resources that she shared.
