Pseudotumor Cerebri(Optic Nerve Swelling)

It has been a long time since I have done a blog post, mostly because there was nothing to post about except for everyday stuff. But with all Kylee has going on I like to journal for my own records, plus like when she had heart surgery, I like to update family and friends on how things are. Lastly, it helps me to see other families' experiences and I thought our experience might help others. Back in December, Kylee had an eye Dr appointment because we noticed periodic crossing of her eyes. So, she was diagnosed with strabismus(eye crossing) which can be common in younger kids with Ds. She now sports some really cute glasses. At that appointment, it was discovered that she has bilateral optic nerve swelling (papilledema.) This is usually indicative of increased cerebrospinal fluid, which can be caused by different things. The big concern was tumors. The eye crossing, although common with Ds, can also be caused by other things. The eye Dr said we could do testing (MRI and /or spinal tap) to find out what was going on, but because she wasn't experiencing headaches, vomiting, balance issues, or irritability that she advised just waiting as the appearance of swelling could just be her normal optic nerve appearance. We opted to have the MRI done as waiting would have been way too nerve wracking and had there been any tumors, it would be better to find out asap. The MRI ruled out tumors, but did show the optic nerve swelling, as was some lesions on the grey matter in her brain. The neurologist stated that it wasn't anything to worry about, that is likely from lack of oxygen experienced at birth, during heart surgery, sleep apnea, etc. We were scheduled for a follow up MRI in 6 weeks and if anything changed we would see her sooner. Because, she didn't seem to experience any issues that would be indicative of increased cerebrospinal fluid, we would wait to do further testing. Fast forward to 6 weeks and her follow up MRI. There was some confusion as to what the radiologist was looking for on this MRI and did not make the diagnosis of optic nerve swelling, instead just reported about the lesions. Our follow up appointment with the neurologist, I questioned the optic nerve swelling and the scan did still show mild swelling. We were told based on what the eye Dr found on her exam a week later would determine whether or not the spinal tap was needed. Kylee's eye Dr was the one who told us of the confusion regarding what to look for on MRI. She still noted the swelling on her exam and contacted the radiologist to compare the 2mris. Spinal tap is set up for Monday at 8 am. While I understand confusion can happen when you deal with 2 different neurologists in the same practice, it still is frustrating that the swelling wasn't taken as seriously as it should have been. I feel bad that I didn't push for the tap sooner. Anyways, that being said, the term for what Kylee has is pseudotumor cerebri. Basically a false tumor or no known reason for the increased cerebrospinal fluid. People with Ds are said to have a higher pain tolerance and makes me wonder if she is experiencing any headaches due to it. She does occasionally pull at her hair at night, grinds her teeth more, has seemed to have ear pain with no infection and has started to have swallowing issues like she used to and /or reflux. Whether any of it is related to the increase in CSF, I don't know. The plan is to measure the pressures of the CSF and send the CSF to lab to test for anything viral, and vitamin deficiencies. From my understanding, there doesn't have to be a reason for the increase. The pressures are supposed to be at a certain range. Too high and this is what can cause the headaches, etc. The big thing is it can cause vision damage. Based on results is how we decide to proceed. Medicine is usually prescribed to decrease the amount of CSF and to follow up with eye Dr to check on the swelling. The neurologist said that it usually will run its course in 12 to 18 months. The bad thing is it can reoccur at puberty. Because of hormones, women have a higher chance of increased CSF than men. It is also more common in the Ds population, not sure on percentages though. I'm hoping that her strong, fiesty side helps after the tap. There is a small chance that she can develop a spinal tap headache. The best thing to do is lay flat. Also, caffeine helps. I don't know how a 5 yr old will stay still especially after consuming caffeine. Anyways, that is it for now. I need to do some blog revamping and I will be doing another post on her hip dysplasia.