A future worth fighting for: Austin's battle with a rare genetic condition called NF1-PN

When Austin was 2 years old, his parents noticed a discolored mark resembling a bruise on his lower back. Initially, they thought a fight between brothers was to blame. However, after about a week of the spot remaining the same, their concern grew.

With a family history of neurofibromatosis type 1 (NF1), a rare genetic disorder that predisposes patients to tumors, Austin's parents suspected a connection and visited their pediatrician.¹ The diagnosis: the bruise was a tumor – Austin had NF1-associated plexiform neurofibromas (NF1-PN), tumors that grow along nerves and may cause pain, mobility issues and changes in appearance.²

From then on, Austin's life was filled with doctors' visits monitoring the tumor. "When kids are supposed to be running around the playground or learning how to ride a bike, I had my first major surgery at age 4 to have part of my foam football-sized tumor removed," he shared. Just 10 months later, the tumor started to regrow, prompting a second surgery.

Despite his young age, Austin understood the gravity of his situation and quickly learned the importance of self-care and self-advocacy.

"One of my earliest memories was during a doctor's visit when I was asked to leave the room so the adults could talk," Austin explained. "My parents argued that the information needed to be shared with me. They pushed for me to understand my condition, including my limitations."

As Austin got older, he experienced varying levels of pain, which, at times, was uncontrollable, forcing him to spend weeks in the hospital followed by days of bedrest.

Understanding the impact of NF1-PN

NF1 affects about 1 in 2,500 people worldwide, and people with NF1 have approximately a 30-50% lifetime risk of developing plexiform neurofibromas (PNs).^2,3 Because the size, number, and location of these tumors vary, they can affect the body in different ways.⁴ For those like Austin living with NF1-PN, symptoms may include pain on or around the tumor, difficulty moving around, and changes in appearance.²

The unpredictable nature of NF1-PN frequently kept Austin on the sidelines, preventing him from fully participating in school and pursuing his dream of joining the military.⁴ Determined to move forward, he established a career in law enforcement and served for six years before the pain forced him to step away.

Austin sought help from an oncologist who referred him to a clinical trial for an investigational treatment called mirdametinib, which was approved by the U.S. Food & Drug Administration in February 2025 for the treatment of adult and pediatric patients 2 years of age and older with NF1 who have symptomatic PN not amenable to complete resection.⁶ During the first few months of treatment, Austin experienced a rash and diarrhea, but was able to manage his side effects by working with his doctor. As a result of this treatment, which is now called GOMEKLI™, Austin's tumor was significantly reduced. This is Austin's personal experience on GOMEKLI and others may have a different experience.

"That moment marked a turning point. For years, I had seen my NF1-PN as a burden. But hearing that my tumor was shrinking, I had a completely new outlook."

Finding a new purpose

Today, Austin is a pastor and an advocate for the NF community. He has found new purpose in ministry, where he serves others while managing his NF1-PN through regular doctor's appointments.

"To anyone struggling with your NF1-PN journey, you're not alone," he shares. "I now know how important it is to stay on top of my care and continuously monitor my disease, so speak to your doctor about the best path for you. It may not look how you imagined, but there is still a future worth fighting for."

To learn more, visit https://www.gomekli.com/.

What is GOMEKLI?

GOMEKLI (mirdametinib) is a prescription medicine used to treat adults and children 2 years of age and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas that cause symptoms and cannot be completely removed by surgery.

It is not known if GOMEKLI is safe and effective in children under 2 years of age.

IMPORTANT SAFETY INFORMATION
Before taking GOMEKLI tell your healthcare provider about all of your medical conditions, including if you:

• have eye problems
• have heart problems
• are pregnant or plan to become pregnant. GOMEKLI can harm your unborn baby.

Females who are able to become pregnant:

• Your healthcare provider should check to see if you are pregnant before you begin treatment with GOMEKLI.
• Use effective birth control (contraception) during treatment with GOMEKLI and for 6 weeks after your last dose.
• Tell your healthcare provider right away if you become pregnant or think you may be pregnant during treatment with GOMEKLI.

Males with Female partners who are able to become pregnant:

• Use effective birth control (contraception) during treatment with GOMEKLI and for 3 months after your last dose.
• Tell your healthcare provider right away if your female partner becomes pregnant or thinks she may be pregnant during treatment with GOMEKLI.

• are breastfeeding or plan to breastfeed. It is not known if GOMEKLI passes into your breastmilk.
• • Do not breastfeed during treatment with GOMEKLI 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, and herbal supplements.

How should I take GOMEKLI?

• Take GOMEKLI exactly as your healthcare provider tells you to take it. Your healthcare provider may change your dose, temporarily stop, or permanently stop treatment with GOMEKLI if you develop certain side effects.
• Take GOMEKLI twice a day, about 12 hours apart, for 21 days, followed by 7 days off treatment, to complete a 28-day treatment cycle. Your healthcare provider will decide how many treatment cycles are right for you.
• Take GOMEKLI with or without food.
• GOMEKLI comes in two different dosage forms, GOMEKLI capsules and GOMEKLI tablets for oral suspension. Your healthcare provider will decide the dosage form and dose of GOMEKLI that is right for you.
• If you take GOMEKLI capsules: Swallow each capsule whole with drinking water. If more than 1 capsule is required, swallow 1 capsule at a time. Do not open, break or chew the capsules.
• If you take GOMEKLI tablets for oral suspension, either:
  • Swallow each tablet for oral suspension whole with drinking water. If more than 1 tablet is required, swallow 1 tablet at a time.
    OR

• • Disperse the tablets for oral suspension in drinking water to make a liquid (suspension) before you take or give GOMEKLI.

See the "Instructions for Use" that come with your medicine for instructions on how to prepare and take GOMEKLI tablets for oral suspension.

• If you miss a dose of GOMEKLI, skip the missed dose and take your next dose at your regularly scheduled time.
• If you vomit at any time after taking GOMEKLI, do not take an additional dose. Take your next dose at your regularly scheduled time.

What are the possible side effects of GOMEKLI?
GOMEKLI may cause serious side effects, including:

• eye problems. GOMEKLI may cause eye problems that can lead to blindness. Your healthcare provider will check your vision before and during treatment with GOMEKLI. Tell your healthcare provider right away if you get any of the following signs or symptoms of eye problems:
  • blurred vision
  • loss of vision
  • other changes to your vision
• heart problems. GOMEKLI may lower the amount of blood pumped by your heart, which is common in children during treatment with GOMEKLI and can also be severe. Your healthcare provider will do tests before you start GOMEKLI treatment, every 3 months during your first year of treatment, and then as needed to make sure your heart is working properly. Tell your healthcare provider right away if you get any of the following signs or symptoms of heart problems:
  • coughing or wheezing
  • shortness of breath
  • swelling of your ankles and feet
  • tiredness
  • increased heart rate
• skin problems. Skin rashes are common with GOMEKLI in both adults and children and can also be severe. GOMEKLI can also cause hair loss (alopecia). Tell your healthcare provider if you develop any of the following signs or symptoms of skin problems:
  • flat skin rash
  • raised bumps on the skin
  • skin bumps that look like acne
  • skin redness
  • itchy rash
  • peeling skin

The most common side effects of GOMEKLI in adults include:

• • diarrhea
  • nausea
  • muscle, joint, and bone pain
  • vomiting
  • tiredness

The most common severe abnormal blood tests in adults include an increased enzyme called creatine phosphokinase (CPK).

The most common side effects of GOMEKLI in children include:

• • diarrhea
  • muscle, joint, and bone pain
  • stomach (abdominal) pain
  • vomiting
  • headache
  • skin redness, swelling, or pain around the fingernails or toenails
  • nausea

The most common severe abnormal blood tests in children include decreased white blood cell (neutrophil) counts and increased CPK.

GOMEKLI may cause fertility problems in females, which may affect your ability to have children. Talk to your healthcare provider if you have concerns about fertility.

These are not all of the possible side effects of GOMEKLI. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Please see full Prescribing Information including Patient Information and Instructions for Use.

REFERENCES

1. National Institute of Neurological Disorders and Stroke. Neurofibromatosis. Available at: https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis. Accessed April 11, 2025.
2. Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: a nationwide study. Oncol Ther. 2023;11(1):97-110.
3. Lee T-SJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):292.
4. Lai J-S, Jensen SE, Patel ZS, Listernick R, Charrow J. Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan. Am J Med Genet A. 2017;173(1):79-87.
5. Moertel CL, Fisher MJ, Weiss BD, et al. ReNeu: A pivotal, Phase IIb trial of mirdametinib in adults and children with symptomatic neurofibromatosis type 1-associated plexiform neurofibroma. J Clin Oncol. 2024;43(6) doi.org/10.1200/JCO.24.01034.