Friday, April 25, 2014

Duke Appointment

Yesterday, we saw the neuro-ophthamologist at Duke. It was a long 3 hrs there and that didn't even include everything they had intended to do. That being said, Kylee did fairly well all things considered. It takes 3 of us holding her down just to get a good look at her eyes. And bless her, she squeezes her eyes shut as tight as possible.
Dr El-Dairi is supposed to be well knowledgeable about IIH and she was very nice, but I think I came away from the appointment more frustrated and confused. Mostly, I've been having curse Down syndrome moments. Don't take it the wrong way, but because of Kylee's inability to fully describe how she is feeling, it makes the whole IIH and treatment more difficult. I wouldn't change her because I feel her Ds adds something so heartwarming to her personality. Everywhere we go, she has to interact with others, saying hi, giving hugs, etc. There are plenty other reasons why as well. Typical IHers have headaches which makes knowing how the medication is working a lot easier. Since her first visit to the ophthamologist when the optic nerve swelling was noticed, it has always been said that Kylee doesn't display typical IH symptoms such as headaches, nausea, etc. I have always thought that Kylee and others with Ds have a much higher pain tolerance and this would make sense as to why Kylee doesn't act in pain lately.Going to the first neurologist, it was noted just that-no headaches, nausea or anything. Nothing was taken into the consideration some of the changes I had noted like a lot of ear rubbing (with no ear infections diagnosed). People with IIH will tell you they often experience "whoosing" noises in ears. Kylee has also had her swallowing difficulties of thin liquids reoccur. She also has reflux to go with it as well. Whether or not it goes with the IH, I don't know, but it started around the same time as her eye change was noticed. Also, Kylee has dark circles under her eyes. It has always been chalked up to allergies. I don't blame her pediatrician or ENT for thinking that because that is what it looks like. However, bringing it up to the neurologist and neuro-ophthamologist, as well as trying allergy meds and no signs of allergies(congestion, sneezing, watery eyes, nothing) it should be noted. Especially, when I have said others with IH have noticed it as well when there pressures were up and when Kylee had her spinal tap, it had went away for a week. Also, Kylee grinds her teeth a lot more and will pull at her hair at night. Kylee has always been a teeth grinder, but it seems to be worse at certain times. She also has low iron and there may be a correlation to that. All these things and given the fact that her optic nerves were swollen and she had higher pressures with her spinal tap would make sense to me that there is a connection of some. Ok, back to her appointment yesterday. The Dr felt that Kylee has some features of false appearance of swollen optic nerves, but also had features of true swollen optic nerves. False swollen optic nerves can be more common in the Ds population in general. Typically, the Ds population have different looking optic nerves anyways. Also, she said new criteria defines high opening pressures in pediatrics is now 25(Kylee's was 24), which is one reason for thinking false swollen optic nerves. But she also said given the fact that the ophthamologist previously noted the appearance of swollen optic nerves and the fact that her protein levels were low in her CSF(can be a factor in IIH,) she would be noted to have features of swollen optic nerves. Basically, she is seeing Kylee mid-treatment and she doesn't know what Kylee's optic nerves looked like before so she can't say definitively if she has true papilledema (swollen optic nerves). She wanted to take photographs of her eyes, but Kylee won't even sit still to have them just examined so we will have to wait until she goes under anesthesia in August for hip surgery to get pictures then. Her plan is to look at the photos, take her off of diamox, then see her in her office to see what her optic nerves look like. The only thing I don't like about this situation is if the diamox truly helps her and take her off of it while after she has hip surgery and is in a full body cast, not having full movement, she may be more irritated. Dr El-Dairi did feel she wasn't on a true therapeutic dose of diamox at this point if she does have IIH. Going back to the whole no complaints of headaches, nausea, it seems that her previous neurologist and this neuro-ophthamologist want to base how well Kylee is doing on what her optic nerves look like. While I understand she isn't your typical IIH patient outwardly, papilledema isn't always present in IIH. In fact, it was noted in the Dr notes yesterday that headaches, nausea and vomiting aren't exclusion criteria in saying she doesn't have IIH. Confused yet? She did at least say that she hasn't had any patients complain about dark circles and she hasn't seen it in literature, but that doesn't mean it isn't possible. My thinking is most patients can describe their symptoms so they wouldn't really need to mention much about the dark circles. One other thing she did mention that was confusing to me is the eye crossing Kylee had at the start of this is not neurological. I thought I read different. See why I am confused:) Anyways, we will just continue seeing the new neurologist(which we would anyways), continue giving diamox and check labs to make sure she is tolerating it ok, wait on our sleep study, follow back up with neurologist in 2 months and follow up with either ophthamologist or neuro-ophthamologist after photographs are taken in August. We have an appointment with the gi doctor and she seems to be doing well on the prevacid. She had some reflux symptoms when everything started, but we limited certain foods. Now with taking the diamox, it can cause reflux and as well as the increased fluid intake ( which has been everything possible we can give her to drink,) but it has been mostly orange juice, so we started her on the prevacid. Then we also follow up with endocrinologist to see where she is at with her vitamin d levels, etc. Again, if you read all this jumbled mess, thanks!

Wednesday, April 23, 2014

Idiopathic Intracranial Hypertension

Since my last post, we actually got her official diagnosis. She has idiopathic intracranial hypertension (IIH), also called Pseudotumor cerebri (PTC). Kylee had her spinal tap(lumbar puncture) on march 10th. She did really well with it. Of course she was sedated for this procedure. She has become well aware of what goes on now when we go anywhere that she has to have anesthesia and does not like to be bothered with vitals being taken, the gas mask, or bandages. Thankfully, she was the only child there so the child life specialist was able to entertain her. She came out of anesthesia the same as always -cranky, but fine as soon as we leave. She seemed to be sore in her lower back area for about a week. This is probably due to the fact that it looks like they had to poke her 3 times to get the cerebrospinal fluid. They do two things with the CSF. 1. They measure the opening pressure of the CSF. Normal in a child Kylee's age is about up to 20. Kylee's was slightly elevated at 24. They also send out the CSF to test for different things that may contribute to the IH. If there is a likely cause, then it is just referred to as intracranial hypertension. If there is no known cause, it is idiopathic. Anyways, they collected tubes of blood and with the blood samples and CSF, they tested to see if there were any viral infections, Lupus, certain vitamin deficiencies or excess vitamins and a few other things that can be linked to IH. The only abnormality that showed up was elevated parathyroid hormone. A visit to the endocrinologist the next day resulted in another blood draw and urine testing of calcium, vitamin d, phosphorus and kidney function. With elevated parathyroid hormone, it can be a result of different reasons. Kylee's vitamin d showed to be low, so we started her on vitamin d supplements. There doesn't seem to be any link of low vitamin d and IH unless it has to do with abnormal calcium levels which Kylee's calcium levels were within normal limits. We are waiting on having another sleep study to check for sleep apnea. Sleep apnea is very common in the Ds population and there has shown to be a link with IH and sleep apnea. Kylee was diagnosed with sleep apnea over a year ago and at that time her tonsils and adenoids were removed which resolved the apnea. She has been sleeping terribly for a few months now, which could be apnea or it could be from the IH. In a way, it would be nice if she had apnea. Take care of the apnea and if that is possibly contributing to the IH, then hopefully it would put her into remission and lessen her chances of it reoccurring. She started on a medication called diamox on march 19th. That is supposed to reduce the amount of CSF produced. Since it is a type of diuretic, it can affect your kidneys so staying well hydrated is essential. This has been quite the task in getting her to drink enough. She gets easily frustrated with us constantly pushing a drink at her. Thankfully, I found a support group for IH and this has been very helpful in learning about IH. Unfortunately, there isn't a known cure, just medications to try to lower pressures or the options of placing a shunt. Medications or shunts can put the person into remission, but not always. While the support group has been very helpful,it has also made me aware of how little research has been conducted for IH. Also, I have seen stories from others of children having to endure pressure headaches that medications have a hard time relieving, nausea, vision disturbances, etc. It is one thing to have a headache, but when it is a child and medications don't relieve it, it is worse. And it seems that since IH is misunderstood, patients often aren't treated properly. Anyways, Kylee was seeing a neurologist that we weren't very happy with for many reasons. The hard thing with Kylee not being able to tell me how she feels and being on a medication that can affect electrolyte balance, kidneys, etc is that I have to rely on her behaviors and her physicians. When the neurologist doesn't get that Kylee is unable to communicate how she is tolerating IH and the meds, it is beyond frustrating. The medicine can lower your potassium levels since it is a type of diuretic and some of the ways to tell would be tingling in extremities. When I asked the neurologist about drawing labs to see how she was tolerating the med, her response was just that(she would have side effects such as tingling) to which I had to remind her again, she can't tell me if she is tingly, etc. If you were to google IH, you would know that a high opening pressure would be a reason to start medicine. When you have an LP, the Dr will lower the pressure back down to normal (closing pressure). CSF is constantly being replenished so just because it is brought down to"normal" it will go back up and if you have IH, it will likely go back up to being elevated. The neurologist stated in her notes that she felt strongly on not starting Kylee on medicine since her pressures were brought back down to 14. Also, if you were to google optic nerve swelling (papilledema) and IH, it doesn't always occur in IH. So, for her to talk about doing better if her papilledema is resolved is crazy. There are plenty of patients who do not have papilledema but have extreme pressure headaches and high opening pressures. Ok, rant done on this neurologist. I had a hard time getting an appointment with a different neurologist, but was able to get in with a neurologist new to a different practice. Kylee saw Dr. Wallace last Thursday and she was great. Was very thorough and explained a lot and also went over Kylee's MRI images. We increased her nighttime dose of the diamox and also started her on an iron supplement because of her low ferritin levels and that fact that she has periodic limb movements(which can be caused by low ferritin levels.) Dr Wallace referred us for a sleep study to check if the iron may be helping the plmd and check for apnea. We follow up with her in 2 months. She also gave me a slip to check her labs before her endocrinology appointment on the 12th, but if I felt she needed them sooner to do them sooner(didn't have to bug her about it like the last neurologist.) While trying to get an appointment with a different neurologist, I also made an appointment with a neuro-ophthamologist at Duke. We have a wonderful ophthamologist that Kylee has been seeing, but wanted Dr. El-Diari(neuro-ophthamologist) to check her out since she specializes in IH. An IH patient doesn't necessarily need an ophthamologist, neuro-ophthamologist and a neurologist, but considering not a lot is known about IH, I want to make sure she is getting the best care possible. Her appointment wasn't until June, but the ophthamologist that sees Kylee sent Dr El-Diari an email to see if we can get in sooner. At Kylee's last ophthalmology appointment, which is never fun because it takes 3 of us to restrain her to get a good look at her eyes, she said her papilledema is still there but is slightly better. Considering she was only on a very low dose of her meds for 3 weeks, that is at least positive. We are scheduled to see the Dr. El-Diari at duke tomorrow. Thankfully, it is spring break so Kate can stay with grandma. It takes 2hrs to get there and we were told to expect a 3-4 hr appointment! Hopefully, it won't be too traumatizing for Kylee and it is worth the drive. If you read this far, bless you cause I'm sure it is a lot of information that doesn't make much sense, but my reason for writing this is to keep track for myself as well as anyone who may be searching for IH. I'm hoping to update her outcome of tomorrows appointment sooner as well as do a post about Kylee's hip dysplasia and her hip surgery that she will be having in August. I'm not looking forward to it, but am looking forward to being able to sit next to her without feeling her hip going in and out of socket!