Discover real Koselugo stories
Hear from caregivers of children and teens with neurofibromatosis type 1 (NF1) plexiform neurofibromas and follow their journeys from diagnosis to treatment.
Meet STAR Ambassador Kim and her son Quentin, treated with Koselugo for over 10 years
Kim reflects on Quentin’s journey with plexiform neurofibromas, beginning with his diagnosis at just 22 months old. Kim discusses the challenges they've faced, including multiple surgeries and tumor regrowth, and shares insights into Quentin’s experience with Koselugo.
"NF1 does not define who he is as a person."
Kim:
This is my son, Quentin.
He’s a cool kid. He’s just really cool.
Quentin and his brother are a little bit competitive. But they get along really well. They’ve got each other’s backs.
Quentin is a fighter, for sure. At a very young age, he was diagnosed with Neurofibromatosis type 1 (NF1) related plexiform neurofibromas or PN, benign tumors that can grow along nerves anywhere in the body.
NF1 is his diagnosis. But that does not define who he is as a person.
At about 17 months, he developed a cluster of, at the time, I didn’t know neurofibromas on his cheek.
So, I brought it up to his physician and eventually she recommended an MRI, and it came back that he has Neurofibromatosis (NF1).
He was diagnosed with PN at 22 months. With PN, even with debulking, the tumor can grow back. It would grow in 23% to 33% in volume every three to six months.
Quentin’s tumor got so large that I could put it in the palm of my hand.
He’s had 10 surgeries and countless complications.
Sometimes we cry together. And we have really hard conversations about where NF takes you, you know, and things that he has to deal with. That is really hard, and you compartmentalize it. You become, at that point you’re a caregiver and not a parent.
I mean even now he gets stares. You know one time somebody asked my older son if he punched him in the face.
His brother is definitely his protector, probably one of the best educators and advocates he could ever have.
When Quentin was 5, our doctor told us about a new trial for a drug called selumetinib which would later be called KOSELUGO®.
The doctors told us about possible side effects, including the most common ones such as vomiting and stomach pain.
They felt that KOSELUGO could potentially decrease the size of his tumors. He had to do the preliminary testing and all of that first, but we signed on.
Quentin was 1 of 50 patients that were on the original trial. After FDA approval, whenever there were any questions along the way, we could utilize OneSource.
Which is a free, personalized patient support program offered by Alexion. OneSource was amazing. Because as a parent you’re juggling so many things and then you add that on top of it to know that there is an advocate for you and a resource that you can go to, it’s, it’s very nice to have.
KOSELUGO’s definitely been a good fit for Quentin. He just had an MRI a month ago, and he is stable. Stable is beautiful.
He takes KOSELUGO every 12 hours, so twice a day and it’s part of life.
Quentin’s side effects with KOSELUGO have, they’ve been pretty minimal. He did have some diarrhea. He did have some issues with acne.
Of course, this has been Quentin’s experience, and others may have a different experience with KOSELUGO.
Quentin:
Since taking KOSELUGO, I’ve noticed a big difference in my tumor growth.
I feel like I can do everything almost anybody else can.
Kim:
Quentin is in a good place now, emotionally, and mentally. I feel like he is living his best life.
We still have doctor appointments, but it’s very secondary. It is a sense of relief that he’s on KOSELUGO, that we could breathe a little.
I love being a mom, it’s one of the most rewarding things I think a person could ask for. I can’t imagine not having them.
And I’m so thankful for all KOSELUGO has done for him.
Meet STAR Ambassador Natalie and her daughter Kamie, treated with Koselugo for over 1 year
Natalie discusses Kamie's plexiform neurofibromas journey, from learning how critical timely evaluation and intervention are to sharing Kamie's experience with Koselugo.
"The doctors have been pleased with her results on Koselugo. She has not had tumor growth."
Natalie:
This is my daughter, Kamie. She’s 3 years old.
She loves to tell stories. She likes to sing; She likes to dance. She is definitely very feisty.
When she turned 3, she was diagnosed with Neurofibromatosis type 1 (NF1) related Plexiform Neurofibromas (PN), which is when benign tumors grow along nerves throughout the body.
We know it’s a lifelong journey for our daughter, and so we are in it. We’re ready to move forward and keep it positive.
Right before she was turning 3, we started to potty train her.
In doing so, we noticed her peeing quite frequently, almost all the time.
I assumed maybe she had a UTI or something. Her three-year old wellness checkup was coming up. So, I figured we would talk to the doctor.
We also had noticed that one side of her buttocks was bigger than the other side. There was some discoloration on the bigger side. The doctor was concerned and so they did an ultrasound on her bladder and then we found out that there was a mass.
After an MRI, she was diagnosed with NF1 with PN.
I cried a lot when I was by myself. My husband and I understood the seriousness and had a lot of worries.
The biggest thing I learned is that this disease will impact her for the rest of her life.
That it was a genetic disorder that she was born with. Because NF1, PN, can grow rapidly in early childhood, timely evaluation and intervention are critical and can help change the disease trajectory.
I have a lot of friends with kids, and they don’t have to worry about any of this extra stuff.
How would this affect her growing up? What treatments were available.
Fortunately, our doctor told us there is a treatment called KOSELUGO® (selumetinib).
It's the first prescription medicine that is used to treat children two years of age and older with Neurofibromatosis type 1, NF1, Plexiform Neurofibromas, PN.
The doctor told us that KOSELUGO would shrink the PN.
As with any medicine, it’s possible to experience side effects with KOSELUGO. These side effects may include vomiting, stomach-area pain, nausea, and dry skin.
After discussing the side effects with our doctor, we decided to move forward with the treatment.
We also learned about OneSource; a free, personalized patient support program offered by Alexion.
I found that OneSource was valuable. It was at a time where we were not sure, you know, what the future held.
So far, her doctors have been pleased with her results on KOSELUGO. She has not had tumor growth.
The side effects Kamie has had is just the dry skin. It hasn’t been severe.
Kamie had a little bit of difficulty swallowing the pill, as expected for a three-year old. She didn’t know how to do it, but she caught on very quickly.
Kamie no longer has to fast while taking KOSELUGO.
It made nighttime so much easier because we didn’t have to make sure she finished dinner by a certain time.
Of course, this is Kamie’s experience, and may be different from others.
We’re still working on that potty training. We’ve accepted NF1 PN as part of our lives.
It definitely is comforting to know that KOSELUGO is a treatment option.
Kamie does not know any different. She feels like a normal kid.
Because of KOSELUGO, I am hopeful that Kamie can live with her NF1 PN. I am hopeful that Kamie will have a fulfilling life.
