Lukas Carr- Our NF hero!
Age: 5

During Lukas' two-month well visit, his pediatrician identified what I initially perceived as cute little birthmarks and explained that if he develops six or more cafÃÆ'Æ'Ã'Ã'© au lait spots on one side, it could potentially indicate a condition known as neurofibromatosis. This was the first time we have ever heard the word /condition neurofibromatosis.
A month or so later I started to notice more cafÃÆ'Æ'Ã'Ã'© au lait spots pop up. They were tiny so I still wasn't too worried but something in my gut told me to get further evaluation.
This happened to be at the height of the Covid pandemic, in-person appointments were not possible, leading me to schedule a virtual consultation with a dermatologist. The dermatologist did not express significant concern initially. However, after the pandemic-related restrictions were lifted, and I took Lukas in for an in-person evaluation, the dermatologist suggested genetic testing and an evaluation by an ophthalmologist. I remained optimistic at the time, believing Lukas merely had birthmarks.

In December 2021, I took Lukas to an ophthalmologist in New York City, where we were informed that he did not display any characteristics of NF at that time and his vision was perfect for his age.

In January 2022, we took Lukas for a consultation with a geneticist to address cafÃÆ'Æ'Ã'Ã'© au lait spots and potential genetic testing for NF. The geneticist recommended testing after identifying two NF characteristics in Lukas. I departed the appointment with continued optimism.

I received a phone call on a Sunday evening in March 2022, during which the woman disclosed that Lukas' genetic testing results were in, revealing that he has an NF1.

During this period, Lukas' development was on track. He was reaching all his milestones, and there was minimal cause for concern. However, I sought to gain a deeper understanding of NF1 and establish Lukas with a doctor as a precautionary measure for his future well-being. Having researched doctors, I decided to take Lukas to the Children's Hospital of Philadelphia to consult a Neuro-ophthalmologist for his annual eye exam. I am grateful to God every day for guiding me in this direction. At the initial appointment in December of 2023, Lukas demonstrated a notable decline in vision compared to prior examinations. Lukas was referred for a stat MRI the following morning. Subsequent findings revealed Lukas had optic pathway gliomas affecting both the left and right optic nerves.

January 2024 marked the beginning of Lukas' fight for sight, as he underwent port placement and his initial chemotherapy treatment just three days prior to his fourth birthday. From there on we traveled weekly (2.5-3 hours one way) to the Children's Hospital Philadelphia for Lukas to receive his chemo treatment. Lukas demonstrated remarkable bravery in the face of chemotherapy's difficulties. During Lukas' treatment, he regained some of his vision and showed a decrease in tumor size. Lukas rang the bell after his port removal in March 2025.

We acknowledge that Lukas' fight is ongoing! However, we will never permit his diagnosis to define him. He is an exceptionally happy, outgoing, loving, and kind little boy. Although we wish we could alleviate some of Lukas' struggles, we would never wish to change anything about him!