At two months old, Everly did not hit her gross motor milestones, and I started to get worried. I mentioned it to her pediatrician and was reassured that it was because she was a premature baby and that all babies develop differently. Months three and four came, and Everly was still struggling to lift her head and do tummy time. I continued to express concerns to her doctor because deep down, I just knew something was impacting her ability to hit this milestone. 
At four months old, Everly received a torticollis diagnosis, which is a condition where a baby’s head tilts to one side. I thought that having that diagnosis was ultimately going to get her the support she needed and fix it so she could catch up. I immediately sought out early intervention services and started outpatient physical therapy at Spaulding Rehabilitation in Foxboro. After weeks of little to no progress, her PT mentioned that she did not believe she truly had torticollis, but there was definitely something that was impacting her ability to lift while on her stomach. We continued with PT, but still saw limited progress, constantly wondering what was going on.
At six months old, I again brought it up to her pediatrician that her progress was not where it should be for all of the services and support she was receiving. I was told (again) that all babies develop differently and that I was a first-time mom who was worried about nothing.
At eight months old, I excitedly walked into occupational therapy at Spaulding and said, “I think Everly is a lefty!” She asked for clarification, and I mentioned that Everly only used her left arm/hand while eating and performing fine motor activities. Her OT recommended we see a neurologist as soon as possible, as hand dominance does not happen until ages 2-4. It was at that moment that I knew it was not torticollis but something more, something neurological.
At nine months old, Everly saw a neurologist out of the Portsmouth, NH, location of Mass General Hospital, as there was a year-long wait to see one in Boston. I went through a list of my concerns, all of which were dismissed as fears from being a first-time mother to the line of work that I do (ABA teacher), and the blanket statement that “all babies develop at their own pace”. Leaving that appointment, I have never felt so unheard in my life. Here I am, advocating for my daughter, driving 2 hours to see a neurologist, and no one is taking my concerns seriously.
At Everly’s nine-month checkup, her pediatrician was pleased to hear that her neurologist was not concerned and that I shouldn’t be either. Everly was healthy, and she would meet those milestones in her own time. Towards the end of the appointment, I mentioned her developing tiny birthmarks all over her body. He thought that they looked like cafe-au-lait spots, but not to worry, as they were typically benign. He then said he would refer us to a dermatologist to get them checked out and that typically it takes a few months to get an appointment. I thought, “Oh great, another specialist,” as Everly had seen a GI doctor, performed a swallow study, and saw a neurologist on top of her weekly PT and OT sessions with EI and Spaulding. I left it at that and did not think twice about those café au lait spots until I got a call one week later. I jumped on Google and started heading towards a downward spiral, researching and self-diagnosing her based on her symptoms. I just KNEW she had NF1.
September 18, 2024, was her brain MRI, and I honestly wouldn’t wish holding your child while being put under anesthesia on anyone. For the next 45 minutes, I didn’t speak; I just sat in silence with my mother, worrying about all the “what ifs” that could potentially happen, but I was too afraid to say them out loud, thinking they would come true. When Everly woke up, she immediately went back to her sassy self, placing demands on me to get her a bottle with the biggest smile on her face. She was okay, I could breathe…for now.
September 19, 2024, was our official diagnosis day. The day that picture was taken. The day that I thought I was “prepared” to receive the diagnosis. The day that our worlds turned upside down. The day we would become members of a club no one wanted to be a part of. The day that we would meet, her doctor would be a part of her care team for the next 18 years. The day that I would become her most prominent advocate and stop at nothing to help find a cure in her lifetime.
Since Everly’s official diagnosis, she has undergone leg x-rays, seen an ophthalmologist, a dentist, and a neurologist, all of whom she cries through the entire appointment. She will continue to be seen every 6 months for at least the next 6 years by each of those specialists. She will continue to be monitored by her GI doctor as well. She has received an in-person EEG as well as a 24-hour home EEG. Everly has had more appointments in her short 15 months of life than I have had in 38 years of mine. Not only is it unfair, but it is simply unacceptable. We must do something to help our babies.
As of now, we have not had any NF-related setbacks aside from her gross motor delay. Her initial appointments have all of her baselines, and her six-month post-baseline appointments are coming up in April 2025.
Everly is the bravest, sassiest, BOLDEST girl I have ever met. She figures out different ways to get to where she needs to go, doesn’t accept the word NO, and does everything she can to be independent.
Favorite Song
Itsy Bitsy Spider and Icky Sticky Bubblegum
Dream Superpower
My superpower wish for Everly would be to live in a world without NF
Favorite Food
Egg salad…Weird, I know
Fun Fact
My first word was Mama at 7 months old! I haven’t stopped talking since
