Just Some Spots: Part 1
November 12, 2018
“Oh, I almost forgot to ask: those spots on his chest and abdomen...are they just birthmarks?” I asked.
“Oh. Hmmm. Thank you for pointing them out to me.”
I could feel the pediatrician’s whole demeanor change in an instant.
“I need to get you a referral.”
He left the room, and I was left holding my little boy, wondering what in the world was happening. When he came back, he handed me a card for a dermatologist. I stared at it in confusion.
“Those spots....they could be nothing....but they could be a marker for a genetic condition called neurofibromatosis. It causes tumors to grow all over the body. Usually they are benign.”
I stared at him in silence.
“Luckily, it wouldn’t affect his life span, but it could affect his quality of life.”
Those words just flowed out of his mouth so easily - like he didn’t just give a blessing and a curse in the very same breath.
“A dermatologist would be better equipped to determine the cause of those spots.”
December 19, 2018
“Hi. I’m a Resident for the doctor. Can you tell me about what brought you in today?”
“We got a referral from our pediatrician to have some spots checked out.”
“About how many spots are there?” she asked.
“I don’t know....50? I’m not sure which ones count.”
I had done enough research to know that the size of the spots and the number of spots were important in determining whether or not it was a marker for NF. I had made myself quit googling after reading about no known cure and too many potential side effects that present in a myriad of ways.
“Let’s take a look,” she said cheerfully.
I put my son on the table, and she flipped on a light. Her eyes narrowed as she examined his chest, abdomen, back, and sides. “Let me grab a ruler to measure some of the larger ones.”
She wrote some measurements on the chart and left the room. When she returned, another doctor was with her. He reexamined my son and remeasured several spots.
After some simple tests and another, more thorough examination, he said, “His skin pigmentation is interesting. Something happened after conception to cause this mosaic pattern. It would not have been something inherited from his birth parents because it appears to be in some cells and not others.”
He was very intrigued and drew me a diagram of cells forming, but I just wanted to know what it all meant.
“It could be neurofibromatosis, but this type and presentation is rare. Unfortunately, I cannot rule it out, so we will need to treat him like he has it until we know for sure.”
I listened in disbelief as he gave us many more referrals: an ophthalmologist because tumors could grow on his irises or optic nerves and could cause vision issues, a geneticist who would be able to do testing and give him an official diagnosis, an ENT because in some cases tumors grow in the ears and cause hearing impairment. He was also going to confer with oncology to make sure nothing else should be assessed or monitored at this time.
Oncology. That’s when I almost lost it. It felt like the air had been sucked from the room. I took some deep breaths as they measured his head circumference and took his blood pressure, both things we’d need to closely monitor from now on.
I’d like to say that I was at peace, but this was blindsiding. We had just celebrated and praised God for miracles of healing and protection. We had arrived home from India in a miraculous timeframe to discover that Judah was either misdiagnosed or healed from the unrelated condition that was in his medical file in India. Just weeks prior, he had officially been cleared by the specialist after taking his 3rd test. We’d also been cleared by cardiology after discovering a heart murmur and neurology after two seizures that were deemed febrile. Now, here we were staring at some freckles that could change the course of his entire life. Would God spare him from this too?
“I’d like to see him again in 6 months, so we can continue monitoring him. He won’t have seen genetics by then because he’s not high risk or high priority. Having a diagnosis won’t change how we treat him because mostly this is just a wait and see game. We treat symptoms as they arise. Hopefully you’ll get into genetics within the year.”
A year!? I was going to have to wait a year to find out if my son had a condition that could cause tumors to grow all over his body?
As I drove home, I prayed over my sleeping boy in the back seat. “Even though this was not on our radar, this did not take You by surprise. Thank you for making him our son. Thank you for not putting this in his file, so that we were able to match with him and bring him home.”
Children with hearing and vision impairments, among other medical needs, had been things we were open to when we filled out our medical/special needs checklist during our home study. There hadn’t been a box to check that said you were open to a child with tumors. I guess that would fall into the “other medical needs” category. We had checked that one too. I wondered if our agency would have thought he was a good fit for our family if they had known about these concerns. I was suddenly so grateful that they hadn’t known. We can’t imagine our lives without him. He is our son and, just like any child, you take the known and the unknown. We would gladly embrace the unknown 100 times over for him.
“Jesus, thank you for healing him before. Let the doctors be wrong, or heal him again. And if not....be with us. Calm my fears. Give me strength.”
Then I called my friend Jessie and cried as I asked her to pray for Judah. I also asked her to pray that we’d get into the geneticist quickly so that we could have some answers sooner rather than later. Could I hold onto peace for a year with the unknown looming over us? Lord, help me.
December 20, 2018
As I sat in the doctor’s office, I was still in disbelief that we were there. Not because I still couldn’t believe that this was happening, but because I literally couldn’t believe that they had gotten us in so quickly. A cancelation had occurred right before our referral came through. When I had answered the phone, I had expected to book an appointment for December 2019...not the very next day.
“Hello. I’m the genetic counselor. Why don’t we start by you telling me your understanding of why you are here.”
“Well....he has some spots on his skin. The pediatrician sent us to dermatology. Then the dermatologist sent us here. Because he might have NF. Or he might not.”
“Good. That’s exactly right. I’m just going to go over genetic conditions in general and then discuss neurofibromatosis with you. Then I’ll ask you some questions and the geneticist will be in to examine him.”
After a brief counseling session, she began to ask me questions - most of which I couldn’t give an answer other than “unknown.”
Prenatal care: unknown
Full term birth: unknown
Birth weight: unknown
Family history of anything: unknown
After several questions, she stopped and said, “Why don’t you just tell me about your son.”
I was grateful that she recognized how hard it was for me to be asked those types of questions, and I told her all that I knew about his medical and family history. I told her that he seems happy, healthy, and has met so many milestones since coming home. She asked a few more questions about development, told me how adorable he was, and then left to get the geneticist.
They returned pretty quickly. After some formalities, the geneticist said, “Tell me about these spots. About how many are there?”
“Too many to count. He’s just sort of....speckled,” I said, “but they’re very light and hard to see if you’re not looking for them. We noticed a few in India, but they all seemed to show up after he had been in the sun.”
“Let’s take a look,” she said, as I put him up on the table.
Ooooos and ahhhhhs and hmmmms escaped from the geneticist, the genetic counselor, and the medical student in the room. “Wow. You’re right. Speckled is a good word to describe it,” said one.
“Interesting. Let’s take a look at his back,” said another.
“It’s definitely a mosaic or segmented pattern. I’ve never seen it quite like this before though. Would you mind if we took some photos?”
“Sure,” I said, but I was starting to feel like they were treating my son like some neat science experiment. “Don’t mind me, the worried mother over here,” I thought to myself.
After he had been examined and photos had been taken, the doctor said that she would definitely like to do some testing on him. To start, we would do a genetic test for neurofibromatosis and another for some pigmentation condition.
The genetic counselor looked at me and said, “That’s the one you hope comes back positive because that would mean it’s more likely that it’s just discolored skin with no other side effects.” I immediately prayed for that test to be positive.
I was also warned that the NF test could come back with false negatives 30% of the time. In his case, the risk might even be greater, as it appears to be in some cells and not others, so it would just depend on the blood that was drawn. They would need to send the blood to a specialized outside lab in California to be studied, and he may need to be monitored for several years, even if the test came back negative.
She also wanted to do a full chromosome analysis panel on him, because pigmentary mosaicism could be a sign of a few other things as well. We couldn’t get started on those tests, though, because our insurance needs to approve it first.
We got his blood drawn for the initial tests, and I prayed for peace and protection as we began this new kind of waiting with another unknown timetable. This time though, we are so thankful to have our son in our arms while we wait.