Genetics, Neuro and Seizures, Oh My!

Where to start??  Lots going on.

I have been waiting on a call or email from Peyton's Neurologist (Dr. K) here at MUSC.  The Geneticist  (Dr. T) in Boston had contacted him regarding the results from the lumbar puncture that was done in February.  He had some questions that he wanted input from a neurologist on, so he emailed the doctor here and then Dr. K was to contact me.  Well, I hadn't heard anything, so I made contacted with both doctors.  Dr. T was wanting Dr. K to talk to me so asked that I give him a few more days and if I didn't hear back, let him know.  I didn't, so I did.  Still nothing.  Meanwhile, I don't know what the results were myself!

On Sunday night, Dr. T called me.  Without going into great detail {him with me}, he said that some of her neurotransmitters were low and he wanted Dr. K's input on starting her on some sort of neurotransmitter supplementation.  Who knew there was such a thing??  I still don't know what the end result of that will be.  However, as we talked, it was decided that we really need to bring Peyton back up to Boston Children's Hospital.  There are several specialists that he would like for her to see as well as some tests done {probably including the skin biopsy which, by the sounds of it, should have already been done...but hasn't been}.  She will need to see Dr. T.  He would also like her to see Dr. M, who is the Neurologist Peyton saw when we were in Boston last August.  Additionally, he would like her to see one of two doctors who are experts in both genetics and endocrinology with an interest in skeletal malformations.  He felt like they might be able to offer more insight in terms of treatment.  He also said, ideally, he would like for her to have a hearing test and for her to see an Ophthalmologist who has a special interest in genetics of eye disorders.  That's a lot of specialists!

Here's the thing.  He wants to see her in about a month and a half {if that}.  Definitely before June.  Likely the week of May 6th.  He is having their secretary work on scheduling, so we should know something in the next few days.

Then there's the logistics of it all.  HOW??  Given Peyton's current condition it's going to be a lot harder for her to travel.  Can she travel by car??  Should she travel by air??  How does that get paid for if it's a medical flight??  Is it a charitable cause??  Can we line up her Medicaid here to cover all out-of-state travel costs??  There is a lot of leg work to be done in a very short amount of time.  If she takes a medical flight, chances are only one escort can go.  Well, I cannot handle this trip without Ron being with me.  Yes, I can certainly handle Peyton, but if I expect to eat, or if laundry needs to be done in that week, well, I've got no help!  I'm not saying I need Ron there to be my errand boy!!  Obviously if he is with me, then the burden of caring for Peyton is shared between two people!  If I fly with Peyton, then he's got to drive up, but then he's got to leave before us and then how do I get her and all her stuff to the airport - cause there's going to be a ton of stuff to bring.  Remember last August when we went to Boston and there was so much stuff to bring for her that we couldn't even take our own vehicle??  Yeah, that.  On the other hand, if we drive, then it's obviously a longer and harder trip for Peyton, but at least we're all together.  But she requires oxygen all the time, so when do we do about that?  If we bring oxygen tanks as we've done in the past, we'd need so many because of the rate she's at that there wouldn't even be enough room in our car for all of the tanks, much less everything else we'd have to bring!  I did inquire into a portable oxygen concentrator for traveling.  I need the specific dates of travel ASAP as they only have 3 of these units.  This would replace the need for all those tanks as well as our own larger oxygen concentrator which we'd have to bring for use in the hotels.  She'd need oxygen when out at appointments as well, so we could use it for that too.  Trust me when I say that planning this trip to Boston is more of a logistical nightmare than the last time.  She wasn't on oxygen all the time last time.

So, the Boston trip looks like it will happen - some how, some way.  Please say some prayers that we get everything worked out in the best possible way for Peyton.  Please pray that everything comes together for us to manage this trip.  The Lord knows all our needs for this to happen.

Peyton saw the Endocrinologist {Dr. P} yesterday.  This was the first visit to him since she was hospitalized with the fractures in February.  He would like for her to start on a drug therapy, which would be a monthly IV infusion done in the hospital.  It would be three days in a row once a month.  When he mentioned the drug, Pamidronate, I got a very weird feeling about it as it is one of the drugs my mother received via IV infusion during her cancer treatment.  It took me a moment, but I remembered it was not the chemo drug {and why would they one to Peyton anyway??} but, rather, a drug to help promote bone density.  I wish my mom was here to ask her all about that.  Interesting that Peyton may wind up on the same drug.  We aren't scheduled to start that yet, as the Endocrinologist spoke with Dr. T in Boston yesterday afternoon and there may be some tests and possible other treatment options to try before the Pamidronate.  Dr. P definitely wants for everyone involved to be on the same page before starting anything.  He said it isn't urgent that we get her started on this so if it waits until after our Boston trip, that is ok.

Then we got to today.  Between October 7 - November 5, 2009, Peyton had several "grand mal" type seizures, the first one being over 45 minutes in length {911 was called and she went via ambulance to the hospital}.  Since that time, she has been on seizure meds.  She is currently at the maximum dose of what she is on.  It was recently increased to the current level after we talked to the Neurologist {Dr. K} about her having "focal" seizures.  That is, brief periods where she simply stares off and is unable to focus.  She zones out for 10-30 seconds and then comes back like nothing happened.  Those happen so frequently that we almost don't even notice them.

This morning Ron and I ran a couple errands before I dropped him off at work.  When I got home, Peyton was very irritable.  The nurse described what had happened prior to the irritability.  She said that it seemed like seizure activity, but it was all in her right leg and foot.  When she described what she saw, it hit me that I have seen this exact same thing at least twice in the past 24 hours or so.  She called and was able to speak directly with Dr. K {neuro}.  She described what happened and he agreed that it was likely seizure activity.  She is already on the max dose of seizure meds, so she can't take more.  And he cannot give her another med to take along with this one because it could suppress her respiratory system.  That I know of, this has only happened 3 times in the past 24 hours or so, but it may have happened before that.  But it has only just started happening, so we don't know if this is a temporary thing that will pass quickly or if it's a sign of bigger things to come.  Of course I have emailed Dr. T in Boston to give him this important update to her condition.  I'm sad for her that this is happening.  I have this image in my head of something like what you'd see on a construction site - a sign saying "3 years 4.5 months accident free" {or in this case, seizure free}, erasing the numbers and resetting to 0 days.

So, that is where we are at right now.  I think that's enough.  Don't you??  In case you couldn't guess, we could use prayers in a lot of areas!  We thank you and appreciate your support!