Our NF Journey

I have thought about writing this blog for months. Even as I sit here now… 8 hours in with only one sentence written. I know what I want to say, but how to say it? What will people think. I don’t want sympathy or anything from this just ears to listen with the intention of understanding or learning, not just to reply. My only hope with this blog is that one parent or one family that is in a situation like we were 2 years ago reads this and feels less alone. Less lost.

So where to start. It has been two years almost to the day since we started all of this. This neurofibromatosis journey. Maybe that is where I should start. The first time I heard the word neurofibromatosis. I will literally never forget it.

That week (the week before Thanksgiving), Anneliese was on her 3rd antibiotic for an ear infection. The previous night, Anneliese and I had spent in the ER getting a shot of antibiotics, hoping that would help with her fever. Then we were there again in the ER two hours away in the “big city” hospital with doctors wondering why 3 different types of antibiotics hadn’t cleared her ear infections and her fever still wouldn’t break. On this second night, the ER doctor decided to do a CT scan to see if we were missing something.

As we, my mom and I, were awaiting (impatiently) for the results at 2 am, two doctors we had never met before walked in. Let me tell you now… when two doctors that you don’t know walk into your children’s room it’s usually not a good thing. They started asking all sorts of questions and looking her over from top to bottom. I remember them saying, tell us everything that different about Anneliese. Having doctors dissect and analyze your child is awful.

“Well she has birth marks.” They jumped on that. “How many?! How big?” Well there were lots of them which the doctors started looking at and measuring. “Anything else?”, they said. I remember my mom helping me. There were a few things… Hooded eyes which no one in our family had. One toe that crossed over another. Super tiny (just like her mom ;)) Things that we absolutely loved about Anneliese and that we found so uniquely her, were suddenly “something”.

Almost immediately upon finding the birth marks, they decided to admit her to the hospital for further testing. That night they told us that Anneliese had enlarged ventricles (natural spaces in the brain) which could possibly mean hydrocephalus. I had no idea what this meant. But here we were admitted to the hospital.

The next morning was a whirlwind. We were at a University hospital which means its a teaching hospital. So that morning during rounds, several doctors, residents and interns (I know I am probably not using the right terms here, but bear with me) came into our room. We were told that they had discussed Anneliese’s case that morning and they had all the questions. I don’t really remember much if I am being honestly. I was in a fog. They mentioned several genetic disorders: Russell Silver Syndrome, hydrocephalus and others. But one medical student said something that has stuck with me: neurofibromatosis. He said to me, “The doctors don’t want to mention this yet because it can be one of the more morbid diagnoses, but that’s what it could be.” Clearly he hadn’t been taught much about bedside manner. This moment was the moment I knew our lives would be different forever.

Later that day, one of my sister in laws, who is a nurse, also mentioned neurofibromatsis. Knowing about Anneliese’s birthmarks, she wanted me to ask about it. But no one at the hospital seemed all that worried about actually diagnosing the root cause. They were only worried about the enlarged ventricles. By that time, my mom had gone home and Daniel had come to Lubbock. But by that afternoon, I thought it best to send Daniel home to be with Gwenevere. WHAT WAS I THINKING?!

Well I will tell you what I was thinking. My dad was two months out from a massive accident that almost took his life. An accident that he was still battling every day to try to save his arm. I knew my mom needed to be home with my dad. And Daniel needed to be home with Gwenevere. In the words of Pretty Woman… Huge Mistake.

That afternoon the neurosurgeon looked at Anneliese’s CT scan and decided she needed to be taken in for a sedated MRI. Having your 20-month-old sedated, sucks. It was so scary and stressful. Well the MRI pretty much confirmed what we already knew… enlarged ventricles, but we didn’t know anything else.

The next month or two was a whirlwind. They discharged us while we waited on genetic testing results. Genetic testing as I learned is kind of like finding a needle in a haystack. You need to know what you are looking for and where to look. They tested her for a couple of different genetic disorders, but not for neurofibromatosis. In the meantime, she had a surgery to place tubes in her ears to stop the ear infections. We also ended up with Anneliese in the hospital again the day after Christmas.

The week leading up to Christmas and especially Christmas night, Anneliese had unexplained vomiting and headaches which can be a sign hydrocephalus. Once again we were admitted to the hospital. They wanted to do a brain surgery to place a sensor to monitor her intracranial pressure. Thank goodness (I say this now as hindsight is 20/20), but she had a cough which prevented us from doing the surgery. While we were in the hospital, my dad was also in the hospital undergoing his 100th (slight exaggeration) on his arm. So we got to visit him and my mom before his surgery. I am telling y’all, our lives were in complete chaos.

So once again we were discharged with no answers and no explanation, but the plan to do a brain surgery?!?!?! on our 21-month-old at the end of January.

The entire month of December leading up to that hospital stay, I fanatical, absolutely consumed! Researching and studying every single possible thing, every doctor, every hospital, every thing. All the while continuing to work full time and making sure to be there for my family. I rarely slept. But I knew I had to learn more. No one was asking why or what was causing all of her symptoms and unique characteristics. They just wanted to treat her. But I needed the why. And I trusted my mom gut 100% of the way.

I had so many people tell me I was obsessed. That I should trust the doctors in Lubbock. We were already traveling 100 miles to go to the bigger hospital, but I wanted more answers.

I reached out to every connection I knew which ended up being way more than I expected. By the middle of December, I had calls and meetings with pediatric neurosurgeons at John Hopkins, Denver Children’s and Texas Children’s in Houston, a contact with the National Institutes of Health, and a virtual meeting with the head of pediatric neurosurgery at Stanford.

Little did I know, my boss’s brother, Dr. Lazarus, was a pediatrician in San Francisco, who had a personal relationship with the pediatric neurosurgeon at Stanford. I will never forget what Dr. Lazarus did for us. I sit here crying as I write this. He literally held my (virtual) hand through this whole process. I shared with him what I felt like I wasn’t being listened to and that we didn’t want to jump into surgery before knowing more. Something was going on with my daughter, and I wanted to know what! We ended up overnight-ing the MRIs, CTs and everything we had on Anneliese to the neurosurgeon at Stanford.

That doctor emailed us with his professional opinions and his recommendations for the best doctor, the closest to us. With his help, we had an appointment within the week with one of the leading pediatric neurosurgeons in the USA at Dallas Children’s Health. Our appointment with this doctor in Dallas was on January 11. Her intracranial pressure monitor surgery was scheduled for January 26 in Lubbock. We knew we needed a second opinion before that surgery.

At our appointment on the 11th, this doctor disagreed with the previous doctors. She didn’t have hydrocephalus. But she might have neurofibromatosis which would explain everything. Originally we were told it would take 3 month to get into the geneticist, but with the help of this doctor, we had an appointment the next week with not only the geneticist, but also with the neurofibromatosis clinic.

We immediately cancelled all our appointments in Lubbock and planned to head to Dallas once again.

So the next week, Anneliese and I flew out to Dallas… alone. Again, I don’t know what I was thinking going alone to this appointment. But I felt Daniel and Gwenevere should stay home. Well after two long days and hours of long appointments, all the doctors and specialists agreed, while Anneliese’s case was unique, she had neurofibromatosis type 1.

I remember calling Daniel from the rental car, begging him to get in a car or plane and come to Dallas (which is 7 hours away). I was bailing and devastated. I couldn’t handle this diagnosis alone. But Daniel talked me through it. He told me no one was more qualified to make decisions for our daughter than me. And he believed I could do it.

I pulled it together and finished out the week of appointments. It was the hardest week of my life.

Following those appointments, we ended up back in Dallas twice more to see more specialists. Making for 4 trips to Dallas in 2 months. All the while, I continued with life as normal back home keeping up with my job and other responsibilities.

Just as we were getting use to our new normal… sedated MRIs and doctors appointments in Dallas every few weeks… we had our next big shock in August. Anneliese had two brain tumors called optic gliomas. Tumors on her optic nerves. The most common type of tumors for children with neurofibromatosis (NF). Tumors that could be nothing or they could mean everything. This news set me down a whole new whirlwind of researching worrying, crying, all the things.

We had appointments scheduled with new specialists leading up to Christmas and following Christmas. That Christmas was the darkest, hardest time of my life. I could not sleep, think or do anything without thinking about what those two tumors meant for the future of my daughter. Would she be starting chemo, would we be traveling to Dallas even more, would Anneliese lose her vision.

When the appointments finally came, we got the news every parent hopes for, her tumors were stable, they weren’t affecting her vision and our plan of care was to monitor. In that moment in February of 2020, a weight was lifted off my shoulders. Lifted off all of us. Stable tumors is the absolute best you can hope for with NF. And at the same time, after 18 months, we finally got a confirmed genetic diagnosis of NF type 1.

Since then we have had another positive appointment and MRI, confirming her tumors are stable. Since then, I feel like I am finally starting to find my new normal. Yes, Anneliese has NF. Yes, that means she could have two tumors or thousands. There is no way to know what will come or what the future the holds. Most days now, I can go through the day without thinking too deeply or worrying too much about NF. But then other days it still hits me like a tons of bricks. I literally stop in my tracks and cannot breathe for worrying about the future and what it holds.

I am told that is one of the hardest things about NF. The unknown. And it is so hard. It is so hard to not know what our next appointment will hold or what will happen. But I am trying to let go and know that right now, in this moment, Anneliese is a completely normal kid who just happens to have a genetic disorder and two brain tumors.

Sometimes, I am angry. Being completely honest, angry at God, at the world for letting this happen to my child and for ever child that suffer. You can give me all your lectures on why God lets things happen, but I still battle it every day not understanding why children around the world suffer and God doesn’t stop it. But I am learning to trust to Him and pray about it.

In these last two years, I have learned a lot. I have found out who my true friends and family are. And who isn’t worth my time. The people that have supported me during my dark times and those who judged me for not cooping well. It can be really hard to deal with how everyone else feels about Anneliese’s diagnosis. Family and friends and even Gwenevere get upset and I feel like I have to be there for them. But sometimes its hard to handle their feelings a long with my own.

I have been told the most horrific things that no parent should have to hear. Like… take pictures of Anneliese now while she is still pretty without tumors or is she going to have a mental retardation or being stopped in the grocery store asking me to explain NF and possible outcomes for Anneliese.

But at the same time, I have had the people who have been there for me. The friends and family who loved me through it all. The family (my sister) who checked in on me even when I said I was fine when I wasn’t. Or the friends who didn’t understand what I was going through, but bought me books that helped me process how I was feeling or friends who bought Anneliese and Gwenevere surprises for our trips like a superhero outfit to remind us we had this or fun activities for the long appointments! Or the people who just listened without judgement when I was at my lowest. My mom, who even through everything with my dad, was there for us in every way. My husband who was the only one who truly understood what I was going through and helped me when I couldn’t help myself and I sure as shit couldn’t be there for him.

And my daughters. Anneliese who at 2 years old taught me about strength and courage and bravery. And Gwenevere who at 5 years old taught me about compassion and caring others.

Through all of this I continued working and carrying on as if everything was okay. As if I was okay. Looking back I don’t know if it was the worst decision ever or the best. Sometimes working was my outlet for stress. And sometimes, I didn’t know which way was up.

And I know our situation is far from the worst; I actually consider what we have been through to be mild compared to other cases and disorders I have seen. Let me tell you, if you ever feel sorry for yourself, go to a Children’s Hospital. You will instantly realize how good you have it. And for a while I felt guilty about my feelings, but I have realized you can feel sad, scared, afraid of what it happening with my child and her diagnosis and still know that it could be so much worse.

I know this was long. If you made it to the end, thank you. As I am finishing this, I am realizing all those nervous about how this blog would be judged don’t matter. This was for me. I needed to write down how I felt in every moment. And my only hope can be that if someone else has received a heartbreaking diagnosis for their child, they will know they are not a lone in how they feel. I have felt lost, a lone, afraid. I have turned to family and friends and even sometimes suffered a lone. I have had fights, break downs, panic attacks and told I was crazy.

But in the end, I know that while my path was messy, I fought for my child. And we got the answers we needed to give her the best possible care. And I can look back on the last two years and now I did the best I could in those moments.

Thank you for reading and listening.

Udderly fighting NF,

New Mexico Milkmaid

If you would like more information on NF, please visit the Children’s Tumor Foundation.