Boston Dr visit

Yesterday, we went to see Dr. K at Tufts Floating Hospital.  He is Eve's mito doc. 

The visit was pretty uneventful - until we started to turn onto our street and Eve started to choke and vomit.  We think she just got carsick.  She had her head hanging down for the full 3 hour ride home.  That would make me immediately sick.  I'll be getting Dramamine for the next car ride. 
 

Anyhow, the visit was boring.  He just asked lots of questions and wrote down things.  He briefly looked at her.  It felt a bit pointless.  Jim said it felt like he was just collecting data for research (and not for helping us).  I think it may seem that way because we don't need a diagnosis, nor is there any treatment.

He wants us to take her to a cardiologist for her rapid heart rate.  She measured 140bpm in the office.  I told him that she is at 140 even when on Versed (to chill her out for the gj switch).  I've also noticed a rapid heart rate when she has just woken up in the morning, so it's not just in a medical setting as a result of anxiety.  He said that can be uncomfortable for her.  I made an appointment with the pediatric cardiologist for the end of July.  Luckily, he has a satellite clinic down in Pittsfield, so we won't need to drive out to Springfield. 

Dr. K also wants us to take her back to Shriner's hospital to have her spine looked at to monitor for curvature.  He said if it becomes asymmetric, the muscles will pull differently and that can be painful.  I'll call them tomorrow. 


He asked us if we thought her mito cocktail was helping and we told him no.  Well, we haven't seen any improvement on it nor decline if we've stopped it for about a week or so in between refills.  But we're not sure if it's keeping her from getting sick or regressing further.  He said we could stop it for about a month to see if we notice decline.  He said that about half of his patients don't find that the mito cocktail helps them at all.  It would be nice to stop one of her many daily meds. 


I asked him about the genetic testing he ordered two years ago.  He said that no mutations were found, so that's why we never heard anything.  We decided that as of right now, there's no reason to pursue further testing.  Maybe one day if we thought it would give Seamus more information we would, but it won't change anything for Eve, so there's really no point now.  He talked a little about clinical trials, but said that Eve wasn't a candidate.  He said that although there is a very small population with mitochondrial disease (like Eve), there are many other people that have damaged mitochondria.  Heart disease is the leading cause of death and the mitochondrial are damaged in the cells in the heart of those with HD.  Aparently, there has been some testing on a drug that has been able to improve mitochondria in older mice.  This could be big big business and the implications are scary. He said that the black market would go crazy for a possible fountain of youth.  I think this is all to say there is some push for research for improving mitochondrial function even though there aren't many cases like Eve's. 


That was it.  Three hours there and three hours back just for two hour stop to talk to a doctor and eat a salad.  Long day.  Eve was beat today and slept in school and even dozed in front of the TV before dinner.  That is highly unlike her. 


Oh, so I mentioned that we were at Floating Hospital.  Well, it used to be an actual floating hospital.  As in, a boat.  There is a model in the lobby, and as we were leaving we stopped to take some pictures.  You know, all of these medical appointments can be incredibly stressful.  They are 100% not fun.  But that's where Jim comes in.  One of the many things I love about him is his ability to make me laugh.  He can take a stressful situation and instantly break the tension.  He is able to have me dissolve into laughter to the point where I can't breathe and my eyes are streaming tears. The man is fabulous and he is so funny.  Please enjoy the photos that we took of the Floating hospital model: