The entire appointment process took about 90 minutes total, yet the actual amount of time we spent talking directly with the neurologist was around 10 minutes. That's not to say we don't like and appreciate her neurologist and the clinic staff, but rather it is a reflection of how understaffed and overbooked the clinic is, regardless of the time of the day, month, or year.
I know I have said this in the past, but my theory of gearing up for a neurology appointment is always a gamble. After almost 10 years of being seen in clinic, I have slowly learned to change my expectations, because frankly, one really shouldn't have an expectation to begin with. Yesterday's meeting was no exception. We were thrown for a loop, again, which is par or the course.
Sarah and I collectively agreed that we did not want to change Mira's medications. We feel that after riding the medication roller coaster with Lyrica, Onfi, and Vimpat at the end of 2014, we had met our drama quota for everybody for the year. The Lyrica wean was an utter disaster and we have finally reached a stable plateau with seizures, irritability, and life. Her seizures are not completely controlled - they never have been and the feeling is at this point, they never will be. This may be as good as it gets.
The medication conversation went smoothly. We then briefly discussed MTHFR, which is methylenetetrahydofolate deficiency. The reason I brought this back up (see 2007 entry and 2014 entry) was because Sarah had recently tested positive for the mutations of both the C677T and A1298C variants of MTHFR. While both of these mutations are fairly common in people without epilepsy (ranges of 20-40% of the population actually has at least one of these mutations) it is quite certain that Mira has at least one if not both of these as well. In rare cases, some of these mutations have a profound effect on MTHFR processing and levels, which lead to severe neurological complications. It is a possibility and it would be good to know this.
That lead to the first kicker in the conversation with Mira's neurologist yesterday, which is that we will probably never know if this is a possibility. We cannot have Mira tested for this because insurance is refusing to pay for it and of course, we cannot afford the $3,000+ cost of the out-of-pocket testing for this CMP (Comprehensive Epilepsy Panel). The second kicker was when her neurologist told us that his role within the hospital was changing and that he would no longer be able to see Mira in clinic, since he is dropping about 75% of his patients. The patients he will keep however, are patients that have a confirmed genetically defined reason for their epileptic condition. It comes down to this: he will keep her as a patient, if and only if she has a confirmed genetic condition.
They are also running a separate exome study within the clinic, which Mira is not a candidate for, since they will not even look at her file until she has the CMP done first. So, either pay out of pocket for the panel in the hopes that they discover one of these 70 different mutations, in the hope (not a guarantee) that she will be allowed into the exome study, in the even remote hope that she will continue to be a patient of her current neurologist. Needless to say, this basically means that we will be cast back into the pool of neurologists and have to get acquainted with a completely new doctor.
Just when we feel like we are getting comfortable with someone in clinic (after 3-4 years) the tables have turned upside down again and we have to re-educate someone new. I don't say that to be pompous or conceited, but rather because Sarah and I know Mira better than anyone. To have to sit down with someone completely new who has never met her, is always a tedious exercise. I am too exhausted to go through this again with someone else in clinic and the very thought of it wears me out.