Mira had her 6 month neurology appointment this afternoon. Typically, we like to schedule the appointment itself earlier in the day, when Mira is, generally speaking, in a better mood. However, seeing as we have to schedule the appointment 4-5 months in advance, we take what is reasonably available. Turns out, a late Friday afternoon appointment was not the ideal time frame to accommodate Mira's mood today, She was irritable before we left and stayed unhappy for the first 20 minutes of the appointment, before finally settling down.
We went heavy into several discussions during her appointment, the first of which was the idea of her having homocystinuria. I have been corresponding with her neuro on this topic for the last few appointments, but we did a deeper dive today in understanding what steps we would need to take in order for her to be fully tested for it and to completely rule it out. First and foremost, we would need to take her off of the pyridoxine completely, for several weeks, in order to capture a decent amino acids panel from her urine to see if she is dumping cysteine. Seeing as how we tried weaning her off of pyridoxine a few weeks ago (see my last post) the prospect of taking her off of it for any length of time is not an option at this point. We have tried this several times in the past and it is always a disaster.
The second option would be to switch her current protein powder for Hominex-2 for a few months and see if there is any improvement. While our neuro has no issue with doing this, it would be an incredibly expensive option, as Mira does not have a formal diagnosis of homocystinuria, thus insurance would not cover a 2-3 month supply of Hominex. Seeing as how it runs over $600 a case (for a half-dozen 14 ounce cans) we might be spending upwards of $2,500 or more out of pocket to run her through such a trial. I am looking into options of trying to find it cheaper, but there are limited outlets and we have limited funds to pay for it. If anyone knows of some other avenues of trying to obtain Hominex-2 any cheaper, please let me know.
In the meantime, we are going to try and get an appointment with a metabolic geneticist through CMH, to sit down and get their opinion on whether we should look deeper into the genetic and metabolic nature of Mira's seizures to see if we can arrive at any conclusions or avenues to pursue. The primary reason would be to discuss the concept of her having homocystinuria.
The second discussion had to do with CBD/THC/hemp/cannabis, which I won't go into the lengthy details of the actual conversation, but our neuro gave us a very informative update on where he thinks the issue is headed in the next 90 days. We have been closely following the status and development of Epidiolex, which is a CBD based medication used for the treatment of severe forms of epilepsy, including Lennox-Gastaut Syndrome and Dravet Syndrome, both of which Mira has been formally diagnosed with. Currently, the FDA has approved the use of Epidiolex for epilepsy, however the DEA needs to reschedule cannabis from a Schedule 1 narcotic, to where is more appropriately belongs as a Schedule 3 or 4 drug, in order for it to be legally administered in the states. It is still running in clinical trials right now. By the way, Lyrica, which Mira has been taking for the last 10+ years (I've lost count) is a Schedule 4 drug. It is absurd that cannabis is at the top of the list, along with heroin and LSD. All we can do is wait for the rescheduling to occur, in order for this to be an option for Mira.
After settling down during the last part of her appointment, Mira again vocalized her displeasure before bedtime, which prompted me to take her for another walk outside in the park. That worked for about 15 minutes, until she was again irritable before falling asleep. I figured the long walk we went on before her appointment would keep up her spirits, but it apparently I did not fulfill her daily walking quota and she needed a few more laps before settling down.
