Living With Muscular Dystrophy - The Markell Family - Our Special Life - Episode 5

Summary

Deborah Marel shares the journey of raising her daughter Sophie, who has a rare form of muscular dystrophy. Despite her challenges, Sophie remains resilient and optimistic, pursuing school activities and enjoying hobbies like painting and playing video games. The family navigates daily life with the help of around-the-clock nursing care, balancing their routine and embracing the uniqueness of their situation. Through it all, Deborah reflects on the importance of love, family, and acceptance, finding strength in their 'normal' family life despite the added challenges.

Takeaways

• 😀 Sophie, the 13-year-old girl in the story, has a rare form of muscular dystrophy called Emery-Dreifuss, which leads to progressive muscle wasting and loss of abilities over time.
• 😀 Sophie requires around-the-clock nursing care, including a night shift from 10 PM to 7 AM and a day shift from 7 AM to 6 PM to help with her daily needs.
• 😀 Sophie’s medical care includes heart medication, appetite stimulants, and artificial nutrition through a G-tube, taking about an hour and 15 minutes each morning to get ready for the day.
• 😀 Despite her condition, Sophie maintains a positive attitude, participating in activities like playing the Wii, painting, and engaging with the computer.
• 😀 Sophie ran for vice president at school and succeeded, being humorously called 'Madam Vice President' by friends and family.
• 😀 Sophie enjoys expressing herself through art, particularly painting, as it allows her to communicate her thoughts and feelings.
• 😀 Sophie and her family were not initially aware of her condition and had to adjust to the reality of her diagnosis when she was around 11 months old.
• 😀 Sophie’s family is deeply supportive, and her parents continue to pray for her well-being and for their family’s ability to manage the challenges of her condition.
• 😀 Sophie’s younger brother, Andrew, has grown up in an environment where Sophie’s condition is a part of daily life, and their bond is strong.
• 😀 The family embraces their unique situation, recognizing that while they face additional challenges, they are still a 'normal' family with love, routines, and a sense of humor.
• 😀 The family hopes to expand people's understanding of diverse families, highlighting that families can look different but still be perfectly functional and loving.

Q & A

What is the name of the disease Sophie has, and how does it affect her?

Sophie has a rare form of muscular dystrophy called Emery-Dreifuss. This neuromuscular disease causes her muscles to waste over time, leading to the gradual loss of abilities, despite physical therapy.

How did Sophie’s parents first become aware that something was wrong with her development?

When Sophie was 11 months old, her daycare noticed that she wasn’t reaching typical milestones, such as pulling up to stand like other toddlers. This prompted her parents to seek further evaluation.

What kind of care does Sophie require on a daily basis?

Sophie requires 24-hour care, including nursing shifts. A night shift nurse monitors her sleep from 10 p.m. to 7 a.m., and a day shift nurse helps her get ready for school and stays until 6 p.m. Sophie also takes heart medication, appetite stimulants, and receives artificial nutrition through a G-tube.

What does Sophie enjoy doing in her free time?

Sophie enjoys playing on the computer, painting, and engaging in activities like playing the Wii. She also finds comfort in expressing herself through art.

How did Sophie become Vice President at her school?

Sophie decided to run for vice president of her school, and after declaring her candidacy, she was elected. Her family and friends humorously referred to her as 'Madam Vice President' throughout the school year.

What role does Sophie's younger brother, Andrew, play in her life?

Andrew, who is healthy and normal, is an important part of Sophie’s life. Deborah, their mother, was moved by how much Sophie loves Andrew and how they have grown up together, with Andrew being old enough to remember Sophie’s condition.

How has Sophie’s family adapted to the challenges of her condition?

Deborah and Eric have learned to adapt to the challenges of Sophie’s condition by planning their days carefully and relying on a strong support system, including nurses. They maintain a sense of normalcy in their lives, despite the extra effort required.

What is the significance of the prayer Deborah shared in the video?

Deborah’s prayer reflects her deep love and desire to keep Sophie safe and healthy. Initially, her prayer was to ‘keep her,’ but over time it evolved, especially after Andrew was born, as she prayed for him to remember Sophie. Ultimately, her prayer has come full circle back to asking, ‘Let me keep her.’

What message does Deborah believe their family story conveys to others?

Deborah believes their family story expands people’s understanding of what makes a family. Despite facing extraordinary challenges, they are a 'normal' family, and their experiences should help others see that love and resilience define a family, regardless of its makeup.

How does Deborah view the concept of 'normal' in their family’s life?

Deborah views 'normal' as a flexible concept. For her, being 'normal' doesn’t mean being free from challenges, but rather having the strength and resilience to navigate those challenges together as a family.