Caroline has always been behind developmentally (see previous posts about her for explanation). She never met a milestone on time. For awhile doctors kept telling me she was okay that sometimes this just happens with youngest siblings. They kept saying she will catch up. We always thought there must be something wrong..things just seemed..well off.
Eventually with the help of TEIS she was placed in Occupational and Speech Therapy. In order to receive these the child has to be significantly delayed. She was on the cusp to get Physical Therapy so I was told to have someone reevaluated her in a couple of months and see if she qualifies then. She did. So as soon as all the therapy spots opened up she was allowed in.
I knew that Savannah and I had NF1. I was not suspicious of it in Caroline at all. She had one small VERY VERY FAINT cafe au lait spot on her shoulder, but other than that nothing. I was even told my doctors that she had probably dodged that bullet. All of that changed a couple to three months ago when I noticed several new spots that seemed to have appeared overnight. I got out a pen and marked and counted them. There were 18 to be exact. I knew that the spots together with family history were enough for a diagnosis. I immediately made an appointment with her pediatrician to get a referral to the neurologist. He was baffled too, because he had just examined her a couple of weeks before and had not noticed the spots.
Fast foward about a month and half later when she was able to see the neurologist. He examined her and said that she was developmentally delayed (umm yeah..), hypotonic, and had the CALs. He said that with my history warranted the diagnosis. (YES, I already knew that). He wanted to do a CAT scan just to rule out other problems. I insisted on an MRI because it is highly possible that a CAT scan missed a tumor in Savannah. He said, well we would have to sedate her for that. I said the trade off was worth it considering we would get better images and avoid radiation exposure from the CAT scan (radiation is bad for everyone, but is MUCH MUCH worse for people with NF). He agreed to it, albeit reluctantly and it was (eventually) scheduled for Sept 29th.
We went in on the 29th and she did great. There were no reactions to the anesthesia. She woke up easily and was herself within minutes. I knew something was wrong though by the look on the people's faces. They had that look on their face that health care workers try to hide..the one where you know it is bad news and you can't say anything. They said what I already knew though..which was not to expect a call till sometime next week because the docs can take awhile.
The next day I got a call (Friday). He was not in the office, because it is his day to be in the hospital. I was told to come in on Monday and he would talk to me. I knew it was bad. One - he has never called that quick. I was surprised he even looked at it that quick. And two..when things have been clear the nurse calls and says "Stable". And three - this is an office with a 2-3 month waiting period for appointments usually and she already had one scheduled for 3 weeks from then.
We learned that she has all the usual expected brain changes for NF1. They just watch those yearly. There were also small tumors on various parts of the optic nerves (the nerves in your head that connect your brain to your eyes). They just watch those as well as long as they are not affecting the vision, but usually at 3 month intervals instead of yearly. The big concern is a 1.7 cm tumor that is on her right optic nerve that extends into the chiasm (the place where the nerves enter the brain) and onto the left optic nerve with the right eye being the most affected. This concerned the neurologist so he said he wanted her referred to an oncologist. These tumors are not always cancerous, but can be. Sometimes even if they are not cancerous they are treated as such in order to either reduce or stabalize the tumor and try to perserve vision in at least one eye. St Jude was not able to see her like they do her sister because they do not have an open study for optic gliomas. For that reason she is going to be seen at ETCH. An appointment has been made for October 19th. We will find out more then what the course of action will be.
After typing that I realize how fast things are moving along. We went from healthy but delayed to neurofibromatosis to optic gliomas and meeting with an oncologist all in just a few months time. This is crazy. However, we will deal with things as they come. I will give more information when I have it.
I will also try to post pictures later if I can.
Posts
