Tuesday, October 11, 2011

The run down...

So after some chaos, stress, and an extra night in Cleveland we got to talk to an expert in the area of Mastocytosis.  I'll give you the run down of what the last few days looked like and where we are with all of it.
We drove to Cleveland Sunday night and stayed in a hotel.  Monday morning we got a phone call that the doctor we are scheduled to see had hit a deer on the way to work and needed to reschedule.  We kindly explained that we were already in Cleveland and needed to see someone.  However, our big dilemma is that the doctor we were supposed to see had masto listed as a specialty and none of the other doctors.  The lady I talked to continually reassured me that all of the doctors are capable of handling the same things.  So I relented and we made an appointment with someone else.
So we ate breakfast at the hotel, and headed over to this awesome park called Preston's Hope.  We spent lots of time playing, and left with plenty of time to get to the clinic and eat lunch before the appointment.  Well, accept that all of the roads in Cleveland Y into three roads, turn into a different road, and we ended up taking much longer to get there. 
We pulled in the parking garage and drove in circles going up and up and up.  We parked at which point Abigail let us know she was going to get (car) sick.  So by the time we got inside she had puked, we only had enough time to get to the appointment, and we were all grumpy and hungry.  Deep breaths.  Deep breaths.
We do all the check-in stuff and the doctor comes in.  He is an amazing doctor.  He was kind, knowledgeable, and extremely helpful.  He knew very little about masto, and actually shared the other doctor we had an appointment with wasn't really an expert either.  So two hours later we leave his office to go eat something.  At this point we are waiting to hear if yet another doctor will see us today, and if we can stay at the Ronald McDonald house for the night.
So after lunch we find out that we were on our own for a place to stay, and that if we stayed we still weren't guaranteed an appointment today.  We contacted a friend's parents and decided to stay with them in hopes of meeting with another doctor who could answer questions and point us in the right direction.
After a much better night of sleep, and people familiar with the area who could explain how to get where we were going (plus a personal phone call with the original doctor we were scheduled to see yesterday) we got to see an expert in mastocytosis today.
It was SO worth the extra night.  He answered tons of questions, explained things very thoroughly, and gave us a plan of action as to where to go from here.  Our biggest questions at this point are whether Abigail's masto is cutaneous (only on her skin and she will likely outgrow it) or if some of her belly issues are from systemic masto.  I knew there were a couple of blood test that some people have done to check a tryptaste level, and to see if there is a mutation in the c-kit in the mast cells. (You don't need to understand that, just helpful for people who are familiar with masto already).  So he said that we would check these two things and that would help us decide if further testing needed done.  He is also going to look at the sample slides from her tumor she had removed from her leg.  So in essence we understand a little more, but still don't know anything definitive about Abigail. 
However, we are extremely grateful that after two crazy long days we are on our way to getting some more answers.  Abigail is in bed, and we are resting, as well as looking forward to a night in our own bed.  I will do another post after we get more test results back.  At this point there is no talk of seeing a gastro doctor, no bone marrow biopsy scheduled (her results we are waiting on will determine if she needs one or not), and no need to limit any foods! 
You learn a lot when dealing with unpredictable disorders.  The biggest lesson I have learned thus far is definitely that you enjoy the here and now.  So we are celebrating not seeing a gastro doctor, no biopsy needed right now, and not limiting her food.  If things change we will roll with them as they come, but for now, we are thankful.


  1. I just happened to find a link to your blog while cleaning out my favorites. Glad you got in to see a masto specialist, sorry you didn't get more definitive answers. =/ I was looking forward to reading what the specialist had said. Ikey backslid a bit these last two weeks, but after a phone call with the allergist, we upped the antihistamines and all is well and right in Ikey's intestines again. It is still just being called "mast cells behaving badly" at this point. We were debating doing the tryptase test and the serum histamine test, but that would been going on the antihistamines and undoing all that we have gained. We have decided not knowing for sure is ok right now, but that may change in the future when he's bigger and has more reserves. Good luck to you guys and take care! And congrats on the soon-to-be addition to your family. :)

  2. Sooo glad to hear that you got connected with the right doc! Praise God!

    Your little girlie is a conqueror. I'm sure she'll take whatever comes her way and knock it out!

  3. I'd be curious to hear what her tryptase is (mine is currently 83 with normal being between 3-11). C-Kit is good to know if she is systemic but it's not a "if you are C-Kit positive you have systemic masto" kinda thing. It just lets the docs know if she is a candidate for Gleevac if needed.

    If she does have an elevated tryptase, you may want to look into seeing Dr. Carter at NIH. While it's a bit schlep to Bethesda for you, once she's accepted into the matocytosis program, they pay for all future travel. Feel free to email me if you have questions.