The Promise of Progress: A Family’s Fight Against Neurofibromatosis Type 1

The Journey of a Warrior: One Family’s Battle Against Neurofibromatosis

As parents, we instinctively work tirelessly to protect our child’s health and well-being. For most, this translates to regular doctor visits, vaccinations, and watching for developmental milestones. For Kim, however, motherhood has been a different story altogether. It’s a story not just of nurturing and love, but of hospital visits, multiple surgeries, and relentless advocacy for a rare and life-altering condition their son faces.

When Quentin was nine months old, Kim noticed unusual marks on his torso and disagreed. His skin, marked with unique, spotted doesn’t even begin to describe the anxieties that flowed through Kim. She by 12 months old

Quentin had already developed a large benign tumor on the side of his face, wrapping itself around his facial nerves.

"His cheeks were very full, like he had two clementines on the side of his mouth," Kim describes their journey, "It wasn’t just removing the marks,

A diagnosis of neurofibromatosis type 1 (NF1) at 17 months old sent shockwaves through their lives. This rare, genetic disorder affects approximately one in 3,000 people worldwide, affecting skin, bones, nerves, and other body parts.

Adding further complexity, Quentin was diagnosed with plexiform neurofibromas (PN) a type of tumor growing along his nerves.

Instead of shrinking, the tumor grew larger, pulling down the corner of his eye.

Quentin’s journey wasn’t easy. At just five years old, he underwent his tenth major surgery, each one leaving behind a trail of complications and frustration. While not endangering his life, C N’s tumor wouldn’t stay contained, causing discomfort and affecting his ability

"Before the clinical trial, Quentin used to have around 20%-30% tumor growth every 3-6 months," explained Kim, her voice heavy with remembrance.

At five years old, a glimmer of hope arrived in the form of a clinical trial for a new treatment – selumetinib. Kim, fiercely dedicated to finding the

"It didn’t stop us from trying.

The clinical trial, sponsored by the pharmaceutical company ambroxol. You might`

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While surgery wasn’t successful in removing the tumor from Quentin’s face, keeping it at bay.

The FDA approved selumetinib under the brand name KOSELUGO® in 2020, offering a new lifeline to other children encountering the

"Some days you’re swimming in the ocean, other days you’re asking for a life preserver,"

Quentin’s journey hasn’t been without setbacks, but with KOSELUGO, he has seen remarkable

"NF1 has shaped our lives positively and negatively," Kim acknowledges, “ 많은, we

Quentin— now a teenager. He plays volleyball and baseball, enjoying a life most people take for granted.

"We don’t take anything for granted," Kim reflects, “She’s an

For Kim and Quentin, living with a rare disease has brought challenges yet

But the carephemous."

Important Safety Information

KOSELUGO, while offering hope,

**You should always talk to your doctor about the best possible options for you and your child. This information is not a substitute for medical advice.

Key Possible Side Effects of KOSELUGO

• Heart Problems:

**craftsing blood clots.*

"Ask, ask

– What are the challenges⁢ that families face when a child is diagnosed with⁢ NF1?

‌ ## Interview with⁣ Kim:‌ A Mother’s Journey Against Neurofibromatosis

**(Interviewer):** ⁤ Thank you, Kim, for sharing your story ‌with us today. It takes immense courage ⁢to​ relive these experiences ⁣publicly.

**(Kim):** Thank you for having me. It’s important for people to understand what families​ like ours go through.

**(Interviewer):**‍ You describe ⁤Quentin’s early childhood as “a different story.” Can you elaborate on‌ what that meant for you and your family?

**(Kim):** It was a whirlwind of ⁤worry and uncertainty. When Quentin was just a baby, we noticed unusual marks​ on his skin, like café-au-lait spots. Then came this massive tumor on his face. By the time he was 17 months old, Quentin was diagnosed with neurofibromatosis type 1, or NF1. ⁣

**(Interviewer):** NF1 seems to be quite a complex condition. ‌Can you explain‍ a little bit about it for ⁣our viewers?

**(Kim):** According to what we’ve learned from doctors and reliable sources like the ‌National Center for Biotechnology Information [[1](https://www.ncbi.nlm.nih.gov/books/NBK1109/)], NF1 is a rare genetic disorder that affects about⁤ one in 3,000 people ⁢worldwide. It can cause tumors to grow ⁢on nerves, like Quentin’s plexiform neurofibromas. These aren’t cancerous, but they can be very painful and disfiguring, and they grow in unpredictable ways.

**(Interviewer):** It sounds like Quentin’s journey has ‍been incredibly challenging.

**(Kim):** It certainly has. By the time he‍ was five, ⁢Quentin had already undergone⁤ ten⁤ major surgeries. It’s been a constant battle. We’re constantly worried⁤ about his pain and discomfort, dealing with complications, and‍ advocating for the best possible treatment.

**(Interviewer):** How have you and your family coped with all these challenges?

**(Kim):** We take ‍things⁢ one day at a time, one surgery⁤ at a time. ‍We find strength in each other, in our community, and in the medical professionals⁣ who have become like family to us. We are determined to give Quentin the best possible life, despite the obstacles.

**(Interviewer):** What‌ message would you like to share with other families facing similar challenges?

**(Kim):** You are not alone. Reach out for support, talk to other families, and ⁢don’t be afraid to advocate for your child’s needs. And⁤ most importantly, never lose hope.