Cooper developed a lump on the side of his neck when he was three years old. His pediatrician initially thought that it was an infected lymph node. However, after taking antibiotics, the lump did not go away, so we did an ultrasound. That’s when the pediatrician referred us to a geneticist who diagnosed Cooper as having a plexiform neurofibroma on his neck. In addition to the plexiform neurofibroma, Cooper had café au lait spots and freckling. Cooper was officially diagnosed with neurofibromatosis type 1 (NF1) when he was four years old.
The geneticist told us that NF1 was a ‘wait and see’ condition, and that there was nothing we could do about it. Initially, we accepted this, and tried not to worry. After several months, we noticed that the plexiform neurofibroma on Cooper’s neck was growing larger. The fact that there was no approved treatment for his tumor was hard for us to understand or accept.
Since Cooper’s diagnosis, we’ve had lots of doctor’s appointments. Cooper doesn’t like missing school and being away from his friends for appointments, but thankfully, he has a fantastic medical team who he’s always happy to see. Cooper fatigues more quickly than his peers, so our family operates at a different pace than others. We’ve also connected with other NF families and developed friendships and a support network that are invaluable.
We are so thankful that the Children’s Tumor Foundation invested in the science that made the clinical trial for selumetinib possible! Cooper began the MEK inhibitor in November 2018, when he was 7 years old and has been taking it for a year and five months.
We are incredibly thankful that all NF Heroes will now have access to the drug that changed Cooper’s life. We shudder to think of what would have happened if Cooper’s tumor had continued to grow. Before starting the drug, his tumor was nearly doubling in volume every 18 months. Since starting selumetinib, his tumor has not only stopped growing, it has shrunk 21%! Our hope is that it will be as life-changing for others as it has been for our family.
Cooper loves Harry Potter, Star Wars (especially Kylo Ren) and beyblades. Cooper enjoys light-saber battling and snuggling with our one-year-old puppy.
To parents and patients, I remind you that you’re not alone in this. Connect with other families, either in-person or online, who have walked this road before you. Get information from reliable, science-based organizations like the Children’s Tumor Foundation. Advocate, advocate, advocate. Build medical care and educational support teams that meet the needs of your NF Hero. Ask for help. This can be a challenging diagnosis, and you don’t have to go it alone.
As told by Cooper’s mom Kirsta
Click here to read more about the Children’s Tumor Foundation announcement about the FDA’s appoval of the first-ever treatment for neurofibromatosis.
Click here to access the Children’s Tumor Foundation MEK Resource Center with more information on selumetinib, interviews with patients and researchers involved in this journey, as well as information for NF patients.
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