This Rare Life: Navigating the Unexpected

Living with two children who have rare conditions and two healthy children is pure chaos. The struggle for attention and the lack of full understanding of the situation can be exhausting. As a family, we are facing the unexpected together.

Making Decisions on the Fly

The constant assessment of my child's well-being is a heavy responsibility. Each day, I evaluate their physical, emotional, and psychological health, observing behavior and mood changes. I aim to create a safe environment for them to express themselves, which helps me understand their feelings. The impact of moods on daily decisions is significant. My emotional state influences my task management, whether overwhelmed by stress or energized. My child's moods also dictate our day; a cheerful mood leads to productivity, while a cranky one can create challenges. This dynamic requires adaptability, adjusting plans based on how we feel. Understanding this connection helps me develop strategies for better emotional management, such as scheduling downtime or incorporating uplifting activities, enhancing my parenting with awareness and compassion.

Choosing between errands and staying home is a daily dilemma for many parents. Essential tasks like grocery shopping and appointments compete with the anxiety of leaving my child at home. I weigh the importance of these errands against my child's need for support and companionship, often feeling guilt or frustration. The decision depends on their mood, my energy levels, and the urgency of the tasks, creating a complex balancing act.

Balancing Responsibilities

Managing a hectic schedule with work, family, and personal commitments can be overwhelming. Meticulous planning and organization are essential to avoid conflicts. Digital calendars or scheduling apps are beneficial for setting reminders and alerts, preventing double bookings and missed appointments. Allocating buffer time between appointments helps account for unforeseen delays, reducing stress and maintaining a smoother daily flow. Flexibility in plans is crucial in today's fast-paced world where changes are constant. Life's unpredictability requires adaptability to maintain mental and emotional well-being. Being flexible helps us adjust commitments for unforeseen events, reducing anxiety and giving a sense of control. In a society focused on commitments, it's vital to recognize that a child's well-being comes first. This may involve rescheduling or declining engagements when my child needs attention, creating a secure environment for them.

Celebrating Small Victories

Not everything is negative. We celebrate each milestone and cherish our family time. We've embraced our new normal. Abby and Addison are humorous, sassy, and radiate positive energy. Unless you catch them on a bad day or are a medical professional, you'd never guess they have Pompe Disease. We've encountered incredible people who support us on this unique journey. The girls' health can be unpredictable, and the future, like anything in life, is uncertain. It's much better to celebrate every laugh than to focus on the uncertainties.

Our Story

Our second child, Abby, was born with Pompe, which was identified through newborn screening in Indiana. Pompe had just been added to the screening list the summer before her birth. Abby experienced breathing and heart issues. We were fortunate to connect with an incredible family who guided us to the right doctors, starting our medical journey. Abby began enzyme replacement therapy (ERT) at 3 weeks old to slow the disease's progression. Our third child, Addison, was also born with Pompe and spent 5 days in the NICU due to breathing problems. Initially, our local doctor was hesitant to start treatment and preferred to wait. After about 5 months and consulting with other doctors, Addison began treatments at 6 months old. During her surgery for a port-a-cath for infusions, a muscle biopsy was performed. The results showed muscle damage despite normal lab results. I'm grateful for trusting my instincts and finding a doctor who suited our family's needs.

Recap

We have our challenging and chaotic moments, along with memories that shape who we are today. We strive to cherish our time together. Often, we need to adjust activities due to fatigue or muscle soreness. Schedules are hectic and may experience delays. We frequently have 8-9 appointments a week just for the two girls, excluding anyone else or routine annual appointments. It's essential to celebrate small victories and learn from every unexpected challenge. We have made significant progress in our faith, knowledge, wisdom, and compassion. Princess and the Port was inspired by a girl who loved princesses, and dressing up during infusions made the experience better. This year, we are planning superhero care boxes.