'My Son Was Born with the Same Rare Genetic Tumor Condition I Have. Here's What Our Life Is Like'
For most of my young life, I knew I had something called neurofibromatosis type 1 (NF1 for short), a genetic condition that causes tumors to grow along the nerves anywhere in the body, at any time. I knew I had cafe-au-lait pigmented spots and small bumps on my skin. I knew I needed to wear a leg brace to walk, and that my right leg was fragile enough to break just by walking across a parking lot. In fact, when I was about 12 years old, I even broke my leg trying to take off a shoe at a local shoe store.
I was in and out of doctors’ offices and operating rooms most of my young life. I’ve had my leg lengthened and straightened twice with an intricate contraption called an external fixator. Those are just two of the many surgeries I’ve endured. I knew it was a different life, but I never let it put a damper on my positive outlook.
As I grew older and aged out of the children’s hospital I had been at my entire life, I started doing my own research into NF. I was determined to find the best hospital within a couple hour drive, and luckily Johns Hopkins, which has an amazing NF program, was about a two hour drive from where I live.
I was about 24 years old when I went to my first adult NF appointment. Many of my questions revolved around becoming a mom. The doctors told me my options and risks for having children, with the main risk being that there was a 50 percent chance I would pass NF along to any baby I conceived. They informed me about the latest in in vitro fertilization (IVF) innovation, in which you can actually test any embryo for NF before transferring it into the uterus. And then if I wanted to conceive naturally, there are more invasive tests called CVS and amniocentesis that could be done during pregnancy to test the baby for NF.
After hearing my options, I listened closely and took all of them in, but I wasn’t planning on getting pregnant for another couple of years. Despite that, I went ahead and got my own genetic work-up done so that when I felt it was the right time I could start the IVF process. At the same time, I was also praying I’d hit the lottery and get pregnant naturally in the meantime, because IVF is so expensive.
When I was 26 years old, two pink lines appeared on a pregnancy test I took by chance. I had zero symptoms of pregnancy, but something was telling me to take a test. To this day, I don’t know exactly why I took the test, it’s almost like I just had an instinct — finding out I got pregnant naturally was a total shock, or as I like to say, a total blessing.
Was I aware there was a 50 percent chance I’d pass along NF to any baby I conceived? Yes. Prior to finding out I was pregnant, was I preparing for IVF with pre-genetic testing? Yes. But I chose to forgo any sort of genetic testing to determine if my baby had NF while in utero. I’ve been torn apart and called many many horrible names for this very statement. But let me make this as clear as I possibly can: You are never promised a healthy baby without any genetic condition.
My baby boy was born on April 12, 2022. Bryson was only 5 pounds and 4 ounces, but my tiny baby boy was finally in my arms. Little did I know that in the weeks to follow, my life would change forever.
Bryson’s left eye was swollen. Eye drops, creams, X-rays, and cultures revealed nothing. When he was three weeks old we were sent to an ophthalmologist, who was the first to even utter the letters NF to me. I was shocked. It couldn’t be possible, because Bryson didn’t have any cafe-au-lait spots and that’s the number one indicator of NF, or so I thought.
Bryson was then sent for an MRI. That MRI revealed my worst fear: Bryson had a plexiform tumor (tumors that can grow along the nerves) behind his eye, face and brain.
At that moment, I felt the most guilty I had ever felt in my life. I did this; I gave him the worst of my genetics. If I’m being honest, I was shocked that this could even be happening, as I myself do not have any internal plexiform NF tumors. How could Bryson have it worse than me? Well, as we’ve found out, NF does not discriminate, and it affects everyone differently.
Being newly postpartum, I quite literally had to snap out of it, shake it off and take care of my baby, becoming his voice and his advocate. From that day forward, #BraveLikeBryson was my motto.
When I first learned of Bryson’s tumor, I thought for sure a simple operation would “fix” it and all would be well again, but unfortunately that wasn’t the case. Bryson’s tumor is far too complex and weaves in and out of his face, eye, and brain. Operating on the whole tumor is nearly impossible.
Treatments for NF tumors are few and far in between, and most treatments just simply stabilize these tumors, but don’t make them go away. After a second scan a few weeks later revealed Bryson’s tumor was rapidly growing, he was placed on a trial drug called an MEK Inhibitor, which is essentially an oral chemotherapy that I give at home. During this single-patient clinical trial, Bryson’s tumor remained stable, but the side effects of the MEK were taking a toll on Bryson. Bryson was covered from head to toe in a skin rash, which happens to be one of the most common side effects of this chemo. After 8 months of treating his rash with steroid creams and bleach baths, his oncologist decided it was best that we take him off the treatment.
By this time, Bryson was approaching one year old and his eyelid was covering most of his eye. We discussed doing surgery, in which the doctor could do a “debulking” procedure which would take out a small portion of Bryson’s tumor that was impacting his eyelid.
Bryson had surgery just after his first birthday. His eyelid was lifted just enough so we could see his pupil and more importantly, so Bryson could see out of his eye without the eyelid obstructing his vision.
Since surgery and being off the MEK inhibitor, Bryson has had two additional scans, both of which revealed tumor growth. At this point, we are in a waiting period to meet with additional doctors across different specialties. We will continue scans every six to eight weeks to monitor until a solid treatment plan has been established, whether that will be surgery or a new clinical trial.
Although NF can cause some developmental delays, even during this crazy first year of life Bryson has shown strength and determination. Over the last year, navigating motherhood as a first-time mom with a medically complex baby has not always been easy. I think as moms we often compare our babies and their milestones. I remind myself Bryson is living a bit of a different life, just like I was, and even if the milestones require some extra physical, occupational, and speech therapy, it’s okay.
All in all, Bryson is doing great for the circumstances. I’d be lying if I said I wasn’t a little nervous for the future, but one thing holds true: Bryson is loved beyond words. My hope is that a positive attitude is in his genetics as well. That is what has gotten me through life: positivity.
For more information visit the Children’s Tumor Foundation (CTF) website, a global nonprofit organization dedicated to driving research, expanding knowledge, and advancing care for the NF community.
Before you go, learn more about celebrities who are also living with rare or chronic illnesses:
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