When my fraternal twins were born, I experienced something I like to call “Happy Baby Land Fever”. After years of infertility struggles and an extremely complicated pregnancy, I was in heaven to finally be holding my babies. As the four of us were squished in the hospital bed together I told my husband, “I hope I always remember this feeling.”
While we were giving the boys their first bath, I noticed that my firstborn twin had a handful of brown spots scattered across his belly and back. The nurse said they looked like birthmarks to her, but suggested I bring them up to the pediatrician when he made his rounds.
The pediatrician seemed unconcerned and almost bored with my question. I felt like a nervous, newbie mother when he replied, “He’s a dark-complected boy, so his pigment gathers more in specific areas. They are just birthmarks. ” I was totally relieved. That made sense to me. My husband has olive skin with a lot of moles and some birthmarks too. This boy just took after his daddy! After that, I never really thought about the birthmarks again.
Fast forward two years and my husband and I started to notice that the birthmarks were not the only quality that made our firstborn twin different than his brother. He was not hitting milestones as quickly. He walked a few months later and was not speaking at all while his brother seemed to be chatting nonstop. He was also sick more — constant ear infections, colds, flu, pneumonia, asthma, food allergies, etc. In general, his little immune system was struggling a lot compared to our other twin.
My gut told me it was autism and my husband agreed. So we threw all of our energy into that. This led to constant Dr. appointments with specialists, speech therapy, occupational therapy, developmental therapy, special diets, etc. We were put on a 9-month waiting list to see a developmental pediatrician. After noticing my son had some strange staring spells and seemed to be awake in his crib at night (not crying, but not sleeping. Sometimes babbling away or even laughing) a friend of mine recommended seeing a neurologist to rule out seizures. So I made another call to our pediatrician and got the referral.
I didn’t expect this appointment to be life-changing. In fact, I took my son without my husband. He had an important meeting at work that day and we were so used to doctors appointments at this point that they became routine. The doctor was kind, and asked me to explain was what going on. I went through the whole speech of his developmental delays and our worries about seizures. He nodded and listened, and then examined my son. He started paying close attention to his birthmarks.
“How many of these spots does he have?”
“Quite a few…,” I said. “He was born with them, our pediatrician told us they were birthmarks.”
“Ok….. let’s count them.” He answered with a concerned look on his face.
My heart was racing as we searched and counted. Together, we came up with eight marks. My son was fussing as we poked and maneuvered him this way and that, but the doctor was saying nothing… just staring at the spots with the same concerned expression.
“Are you worried about the birthmarks?” I asked meekly.
“These are called Cafe Au Lait spots… and I’m afraid they are a sign of a genetic condition called Neurofibromatosis. Has anybody said anything to you about these?”
I immediately had a million questions swirling through my brain. I had never heard of Neurofibromatosis before. The doctor’s voice seemed to go through one ear and out the other. But I heard some very alarming words.
- Intellectual disabilities
I was in tears at this point. He walked over and gave me an awkward half-hug and half pat on the back. He left the room to get me more information and to order some tests. I reached for my phone to frantically look up Neurofibromatosis. My first instinct was to look at images on the internet which absolutely stopped my heart. I learned later that the most extreme cases are usually the first to show up on Google.
He came back in and told me a lot of information. He mentioned that there are three types of Neurofibromatosis. There are NF1, NF2, and Schwannomatosis. He suspected that my son has NF1. NF1 causes tumors to develop throughout the nervous system (brain, spinal cord, and nerves). These tumors are usually non-cancerous. He said he has several teenage patients with NF1 and they live healthy, normal lives. Most patients will just need regular monitoring.
He also said we needed to do a blood test to confirm and we would get the results in four to six weeks. He ordered an EEG and an MRI. He recommended we get an eye exam to check for Lisch nodules.
His exact words were, “I hope the test is negative, but I am fairly certain that this is what it is.”.
He was right. Lucky for us we have a family friend in genetics who works with an international, Neurofibromatosis expert. We scheduled an appointment for a second opinion. He was able to diagnose him after only examining him for about five minutes. There are several diagnostic criteria for NF1 and if you meet two of them, you have it. My son has cafe
Even though this appointment made NF1 so real for our family, we left with a lot of hope. The doctor told us he sees no signs of plexiforms, which are larger tumors that are usually present at birth. He also doesn’t think we need to worry about an MRI right now, just an eye exam.
He explained that most children don’t experience major problems with NF1 until they hit puberty. We found out that there are medications being tested and trialed for NF1. The genetic counselor we spoke with believes that there will be an FDA approved
We also learned that 60% of individuals with NF1 are on the autism spectrum, which is the case for my son. His speech is very delayed, he does a lot of repetitive motions like spinning and hand flapping, and he has an extremely difficult time breaking
We have learned that this condition is extremely common, but not many people have heard of it when we bring it up in conversation. As I said before, searching the internet can be misleading and alarming. There are extreme cases of NF1. These cases are complex and
Sometimes I think of my son as a beautifully intricate puzzle with so many pieces to uncover and fit into place. My husband and I will never stop fighting for him. We are the only advocates my son has, and as of right now we are his only voice. I am so grateful that he is a twin. His brother is already so protective of him and closely watches out for him.
If you or someone you love has NF1, I would love for you to follow us on this journey. I hope to spread awareness of Neurofibromatosis with this blog and encourage others with our story.