(BPT) - Every parent prioritizes the health and wellbeing of their child. For most, this means regular checkups and tracking their growth and development. But for some parents like Kim, it's a different story, filled with hospital visits, multiple surgeries and advocacy for their child living with a rare disease.
When her son Quentin was around nine months old, Kim noticed marks on his torso and back, as well as visible tumors. By 12 months, a larger benign tumor had formed on the right side of his face, wrapping around his facial nerves.
"His cheeks were very full, like if you put two clementines on the side of his mouth and heavy and pulling down his right eye," said Kim.
At 17 months, Quentin was diagnosed with neurofibromatosis type 1 (NF1), a rare genetic disorder that affects nearly 1 in 3,000 people worldwide. A lifelong and progressive condition, NF1 commonly appears in early childhood and can include spots on the skin, bone issues and other symptoms in the body. Then, at 22 months, Kim learned Quentin had plexiform neurofibromas (PN) - a type of tumor along the nerves of the body that develops in up to 50% of children with NF1. While PN tumors are noncancerous, they can still cause serious problems that impact a child's quality of life.
"Because the tumor grew and wrapped around his facial nerve, it made it hard for Quentin to chew," said Kim. "He couldn't close his eyes, and his baby teeth were trapped inside the PN."
Finding a management plan
Like many other children with NF1 PN, Quentin's care was overseen by a team of specialists. For the first couple of years after his diagnosis, Quentin saw 14 physicians between two hospitals. "Our local hospital had a good handle on it, but the tumor was getting bigger, and we felt there was more we could try," said Kim.
Over the next couple of years, Quentin underwent several surgeries to remove the PN on his face. Surgically removing PNs can be complicated and may not be an option for all patients. One reason is that the PN may be closely intertwined with critical nerves or blood vessels and located near major organs. Further, the PN may not be completely removed by surgery.
For Quentin, the surgeries were unsuccessful in removing the tumor from his face.
"He's had 10 major surgeries, some that resulted in major complications," said Kim. "They didn't work. It was very difficult."
When Quentin was five years old, one of his doctors determined he was eligible for a clinical trial evaluating a new treatment, selumetinib. His care team discussed with Kim the specific requirements for participation in the trial, including initial testing and continued record-keeping of Quentin's symptoms, as well as the possible side effects of the treatment.
"Before the clinical trial, Quentin used to have around 20%-30% tumor growth every 3-6 months," said Kim. "Once he started taking selumetinib, we noticed a significant shrinking of his tumor, and that the growth has since leveled off."
This investigational treatment was approved by the FDA in April 2020 as KOSELUGO® (selumetinib) which became the first and only prescription medicine for pediatric patients two years of age and older with NF1 who have symptomatic and inoperable PNs. KOSELUGO has been shown to reduce the size of some PNs, advancing care for children like Quentin who have inoperable PNs.
Quentin did experience some side effects, such as diarrhea, eczema and hair loss, but the progress was visible - his tumors were not growing, and Quentin has been taking KOSELUGO ever since.
The challenges and triumphs
Today, Quentin is 17 years old. He is still managing his NF1 PN, but thanks to his care team and support from his family and friends, he is a social and active teenager living an active life. Whether on the volleyball court or the baseball diamond, he is grateful for each opportunity.
"NF1 has shaped our lives positively and negatively," said Kim. "Before we started therapy, he was in and out of the hospital and was septic at times. But on the positive side, NF1 made us closer, stronger and better communicators. We don't take anything for granted."
Quentin has been aware of his condition since he was four years old. Now, he unapologetically tells people he has NF1 PN and that there's no cure. "Some days you're swimming in the ocean, and some days asking for a life preserver," reflected Kim.
For other parents and caregivers navigating their child's NF1 PN diagnosis, Kim says that education and seeking resources are key.
"I can't stress enough to advocate for your child and be educated yourself. Ask the questions. Ask, ask, ask," she said. "Ask about support networks, what's available in your community, and ask your doctors all the questions. You need to be educated in order to take care of someone else."
This article is sponsored by Alexion, AstraZeneca Rare Disease.
IMPORTANT SAFETY INFORMATION
What are the possible side effects of Koselugo?
Koselugo may cause serious side effects, including:
- Heart problems. Koselugo can lower the amount of blood pumped by your heart, which is common and can also be severe. Your healthcare provider will do tests before and during treatment to check how well your heart is working. Tell your healthcare provider right away if you get any of the following signs or symptoms: persistent coughing or wheezing, shortness of breath, swelling of your ankles and feet, tiredness, increased heart rate.
- Eye problems. Koselugo can cause eye problems that can lead to blindness. Your healthcare provider will check your vision before and during treatment. Tell your healthcare provider right away if you get any of the following signs or symptoms: blurred vision, loss of vision, dark spots in your vision (floaters), other changes to your vision.
- Severe diarrhea. Diarrhea is common with Koselugo and can also be severe. Tell your healthcare provider right away the first time that you get diarrhea during treatment. Your healthcare provider may give you medicine to help control your diarrhea and may tell you to drink more fluids.
- Skin rash. Skin rashes are common with Koselugo and can also be severe. Tell your healthcare provider if you get any of the following signs or symptoms: rash that covers a large area of your body, peeling skin, blisters.
- Muscle problems (rhabdomyolysis). Muscle problems are common with Koselugo and can also be severe. Treatment with Koselugo may increase the level of a muscle enzyme in your blood called creatine phosphokinase (CPK) and may be a sign of muscle damage. Your healthcare provider should do a blood test to check your muscle enzyme levels of CPK before you start taking Koselugo and during treatment. Tell your healthcare provider right away if you get any of the following signs or symptoms: muscle aches or pain; muscle spasms and weakness; dark, reddish urine.
Before taking Koselugo, tell your healthcare provider about all your medical conditions, including if you:
- have heart problems.
- have eye problems.
- have liver problems.
- are pregnant or plan to become pregnant. Koselugo can harm your unborn baby. Your healthcare provider should verify if you/your partner are pregnant before beginning treatment. Ensure you/your partner use effective birth control (contraception) during treatment and for 1 week after your last dose if there is possibility pregnancy could occur. Tell your healthcare provider right away if you/your partner think you may be pregnant.
- are breastfeeding or plan to breastfeed. It is not known if Koselugo passes into your breast milk. Do not breastfeed during treatment and for 1 week after your last dose. Talk to your healthcare provider about the best way to feed your baby during this time.
Tell your healthcare provider about all the medicines you take, including prescription, over-the-counter medicines, vitamins, or herbal supplements. Especially tell your healthcare provider if you are taking aspirin, blood thinners, or other medicines to treat blood clots. Koselugo contains vitamin E, which may increase risk of bleeding.
What should I avoid while taking Koselugo?
Do not drink grapefruit juice, eat grapefruit, or take supplements with grapefruit or St. John's Wort during treatment.
Most common side effects include: vomiting, stomach-area pain, nausea, dry skin, muscle and bone pain, feeling of tiredness or lacking energy, fever, sores in your mouth, headache, redness around the fingernails, itching.
These are not all the possible side effects of Koselugo. Call your healthcare provider for medical advice about side effects. Your healthcare provider may change your dose, temporarily stop, or permanently ask you to stop taking Koselugo if you have any of these side effects. You may report side effects to AstraZeneca at 1-800-236-9933 or at https://us-aereporting.astrazeneca.com or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.
INDICATION
What is Koselugo?
Koselugo is a prescription medicine that is used to treat children 2 years of age and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas that cannot be completely removed by surgery. It is not known if Koselugo is safe and effective in children under 2 years of age.
Please see Patient Information in the full Prescribing Information for Koselugo (selumetinib).
AstraZeneca and its Rare Disease Unit, Alexion, are committed to raising awareness of the disease and the need for treatment options. Learn more at Alexion.com and Astrazeneca-us.com. You can also visit Koselugo.com.
KOSELUGO is a registered trademark of the AstraZeneca group of companies. ALEXION is a registered trademark of Alexion Pharmaceuticals, Inc. © 2024, Alexion Pharmaceuticals, Inc. All rights reserved. All other trademarks are property of their respective owners.
US/KOS-NF1/0806 V1 07/2024