Family Finds Gratitude and New Hope through Experience with a Rare Childhood Condition
Posted: June 08, 2020 | Word Count: 1,194
When Cooper Norris was just two years old, his pediatrician noticed some freckling and café au lait spots on his back. The pediatrician told his parents, Kirsta and Michael, they would need to monitor this. But by age four, Cooper had developed a lump on the left side of his neck. An ultrasound of the lump led the family to a geneticist who confirmed that it was a benign tumor called a plexiform neurofibroma (PN) caused by neurofibromatosis type 1 (NF1) – a neurogenetic condition caused by mutations in the NF1 gene, which can be inherited or occur spontaneously.
“We were surprised when the doctor told us to come back in a year to monitor the disease, because nothing else could be done – the tumor was inoperable and there were no approved treatments – and that was not really acceptable to us as we are not ‘wait and see’ kind of parents,” Kirsta recalls.
Despite its designation as a rare disease, NF1 is one of the most common inherited neurological disorders affecting one out of every 3,000. Symptoms of NF1, including soft lumps on and under the skin, and pigmentation (called “café-au-lait” spots), typically begin in early childhood. In up to 50% of patients, PN tumors, like Cooper’s, may develop on the nerve sheaths. PNs can lead to complications such as pain, disfigurement and airway dysfunction.
As Cooper’s tumor continued to grow, he experienced pain when he was hugged or turned his head to look for traffic while riding his bike. The tumor was doubling in size every 18 months and there was a risk that it might obstruct his airflow. “That’s when we knew we had to take that next step and become advocates for Cooper to find him the very best care and explore all the options that were out there,” Michael says.
Kirsta and Michael took Cooper to a leading geneticist and NF1 expert who helped enroll Cooper in a clinical trial for an investigational oral therapy for the treatment of NF1 PNs.
After the first three months of taking the treatment, Cooper’s tumor began to get smaller. Six months after starting treatment, his tumor shrunk 20%. He experienced nausea, mouth sores, and toenail redness from the treatment. All patients were different and Cooper’s experience with treatment may not have been the experience of all patients. “We were able to go from not knowing what to expect to seeing the tumor decrease in size, and that really changed our optimism and gave us hope” Kirsta shares.
The treatment Cooper received through the clinical trial was recently approved by the FDA for the treatment of children aged two years and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas that cannot be completely removed by surgery. He takes it twice a day as a capsule and continues to get regular MRIs to monitor his condition. Today, Cooper, now 8, enjoys doing things that were sometimes difficult before like riding bikes with his brother, going to theme parks, watching his favorite films and playing games.
“Fortunately for Cooper, the treatment has reduced his tumor size at a time where kids are starting to be aware of differences,” Kirsta says. “It’s not that all our stress has been removed, but we try to focus on having an attitude of gratitude and being thankful.”
To learn more about Koselugo (selumetinib), visit www.koselugo.com
IMPORTANT SAFETY INFORMATION
Before taking Koselugo, tell your healthcare provider about all of your medical conditions, including if you:
- have heart problems
- have eye problems
- are pregnant or plan to become pregnant. Koselugo can harm your unborn baby
- Females who could become pregnant and males with female partners who could become pregnant should use effective birth control (contraception) during treatment with Koselugo and for 1 week after your last dose
- Tell your healthcare provider right away if you become pregnant or think you may be pregnant during treatment with Koselugo
- are breastfeeding or plan to breastfeed. It is not known if Koselugo passes into your breast milk
- Do not breastfeed during treatment with Koselugo 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 and 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 your risk of bleeding.
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 with Koselugo to check how well your heart is working. Tell your healthcare provider right away if you get any of the following signs or symptoms:
Eye problems. Koselugo can cause eye problems that can lead to blindness. Your healthcare provider will check your vision before and during treatment with Koselugo. 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 with Koselugo. 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:
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, which may be a sign of muscle damage. Your healthcare provider should do a blood test to check your muscle enzyme levels before you start taking Koselugo and during treatment. Tell your healthcare provider right away if you get any of the following signs or symptoms:
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.
The most common side effects of Koselugo are:
These are not all the possible side effects of Koselugo.
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 the full Prescribing Information, including Patient Information here.
This article is sponsored by AstraZeneca.
Koselugo is a trademark of the AstraZeneca group of companies.
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