Charlie’s story:

In July of last year (2023) Charlie’s dad, Matt, found a small lump on the left side of her neck that felt to him like a neurofibroma, a nerve tumor under the skin. I (Charlie’ mom) took her that month to her pediatrician for a routine check-up and brought it up to her doctor. He recommended we bring it to the attention of her geneticist at her next visit, which was that coming February 2024. Her geneticist confirmed it was a neurofibroma, but needed an ultrasound to confirm the specific type. After the ultrasound it was confirmed to be a plexiform neurofibroma, which is a kind of fibroma or tumor that forms in the tissue that covers and protects the nerves. Due to the findings, Charlie needed to have more imaging so her doctors could get a full picture of the tumor, as it was by her important arteries and vessels that go to the brain.

Through the Children’s Tumor Foundation, we found Dr. Toll at Children’s Hospital of Michigan in Detroit who is a pediatric oncologist. She suggested two MRIs be done of the soft tissue and cervical spine along with her brain with orbits. The imaging showed how extensive this plexiform neurofibroma is and showed an optic glioma behind her left eye. The PN (plexiform neurofibroma) starts at the base of her skull and travels down and around her trachea over the left side of her neck pushing the carotid artery slightly along with intertwining itself with all other major arteries and vessels that go to the brain. It then travels down to her armpit and to her left lung pushing on it also but not disturbing it. It is also at her C3 and C4 vertebrae and very close to her spinal cord, but thankfully not imposing on it.

Unfortunately, these MRIs did not capture the whole picture as it's incredibly rare to have a toddler with a PN that is this advanced and invasive. Another MRI of her full spine and chest will be performed at Mott Children’s this September. Due to the complexity of this PN we were referred to the pediatric neurologist, Dr. Robertson, at Mott who ordered the third MRI. Once we have the results of the last MRI, we will have a better picture of the plexiform and will begin treatment as this PN is inoperable and cannot be removed through surgery due to its complexity and placement within major parts of her body.

At 2.5 years old our daughter Charlie is a fun, loving, kind, smart, and energetic toddler. She was born with a rare genetic disorder called Neurofibromatosis or NF1. Although she was born with this genetic disorder, she hasn't let it slow her down. She enjoys going to daycare and playing with her friends, making art, dancing to music, playing with our family cat Opie, and reading books. She’s a big daddy’s girl and loves watching baseball with him and spending quality time with him.

Neurofibromatosis is a genetic disorder with three types of this condition which are Type 1, Type 2 and schwannomatosis. NF1 (type 1) manifests itself at birth or during early childhood and is characterized by multiple light brown (cafe-au-lait) spots concentrated in the groin and underarms and benign tumors under the skin. There can be enlargement and deformity of bones and curvature of the spine (scoliosis). Some people may develop tumors in the brain, on the cranial nerves or involve the spinal cord.

When Charlie was born, we knew she had NF due to the cafe au lait spots and was immediately referred to a genetics doctor at Mott Children's Hospital to have annual appointments to monitor her. During her early development she was behind on gross motor skills and needed SMO braces on her ankles to help build muscle in her legs along with weekly physical therapy appointments and early intervention. She continues to wear her SMO braces and sees her early intervention specialists. Along with seeing genetics yearly she goes to Kellogg Eye Center to check her sight and look for any Optic Gliomas which are common in NF patients.

Treatment for a plexiform is fairly new as NF is not a well-known genetic disorder and very complex as it presents itself differently in every patient. Due to Charlie’s age and inability to be able to swallow pills she will begin a medication called Trametinib, which is a MEK inhibitor that targets gliomas and tumors that can be given in a liquid form. It is not guaranteed to help shrink or stunt the growth of the plexiform but will help with the glioma behind her left eye. Through lots of research and clinical trials they have found some success in stunting the growth of neurofibromas but like all things dealing with this genetic disorder it depends patient to patient.

Complications from NF1 are extremely rare in young children and something as parents we did not expect to navigate until later on in her life. To us she is just like any other toddler growing and learning, but with a few more doctors and appointments than most children her age.

When we learned how severe her plexiform neurofibroma was we were shocked, confused, and heartbroken. Every day we are thankful for her doctors and how proactive they have been throughout this life-changing diagnosis.

These donations will help us as a family be able to provide and pay for Charlie’s extensive treatment and any other future needs that may come up as she is undergoing treatment. It will help us pay for all testing, blood work and imaging that will be needed multiple times a year as she takes this medication. We appreciate any and all donations and are incredibly thankful for the village that has surrounded us during this time.