In a world where each child's journey is unique, Brynn’s story stands out for its strength and resilience. Diagnosed with achondroplasia, Brynn, and her family, have navigated a path filled with challenges, discoveries, and immense love.
It all began with a routine ultrasound. Kenzie recalls the moment her doctor mentioned unusual growth patterns. "Her head was measuring in the upper 90th percentile, but her long bones were in the 13th," Kenzie remembered. This led to a series of speculations ranging from Down syndrome to dwarfism, with the latter being unlikely due to no known family history.
The arrival of Brynn was a moment of joy mixed with concern. Immediately, there were signs pointing towards abnormal growth. Kenzie's recounting of the experience is filled with a mix of emotions, "When Brynn was born, she was perfect. But we knew there was something more to discover about her." A series of tests at the hospital, including a brain ultrasound and skeletal x-rays, all showing Brynn was healthy, but a genetic test was required for a definitive diagnosis.
Brynn's diagnosis brought with it a new understanding of the world. Kenzie explains, "Simple things like walking or running can cause her to trip and fall. Her center of balance is off due to her head size." The world around Brynn wasn't built for her stature. Furniture, door handles, and even playground equipment presents obstacles for her.
Despite these challenges, Brynn's spirit shone through. Her mother proudly shared, "Bless her heart, she's motivated to do many things for herself." Brynn's attempts at independence, however, were often met with frustration due to her physical limitations.
Brynn's condition necessitated close medical attention. Kenzie recalls the difficulty of the initial sleep studies and the discomfort it caused Brynn. "I never wanted to see her in this discomfort again," she said. Brynn was diagnosed with sleep apnea and required oxygen, adding another layer to her care.
Kenzie found solace and support in Medicaid and early intervention services. "Brynn receives physical therapy, occupational therapy, and speech therapy," Kenzie noted, emphasizing the importance of these services in Brynn's development.
Kenzie shared glimpses into their daily routine, which is filled with love, learning, and adjustments. From waking up and getting ready to enjoying swim lessons and therapeutic sessions, Brynn's days are structured yet full of opportunities for growth.
Looking to the future, Kenzie hopes to raise awareness about achondroplasia and participate in research studies like the VISTA Study. She expressed her aspirations for Brynn: "I want her to continue to have the fire she has now. She's feisty and not afraid to speak up for herself."
Kenzie’s final words offer insight and encouragement for other families in similar situations. "You are not alone." she advises. "Seek support if you need any help or advice and be sure to cherish every moment."
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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.
