Phew. We are home after a very long (and rainy) day. We are all exhausted but… content. I am pleased with the outcome and feel that we are on the verge of getting some real answers.
Ironically, the thing that I am happiest about has nothing to do with why we were there: he said (to us and in his report) that he absolutely agrees that Em needs to be seen by the motility clinic and he will be working closely with Dr. Garza to figure out how to help Em. I have been very worried about going to the motility clinic – that they would think Em wasn’t severe enough to warrant being there; that because she is doing ‘ok’ at the moment they would question why we were there. Dr. Abonia set my mind at ease. Validation is such a lovely thing!
We liked Dr. Abonia – he joked a bit (a refreshing trait in a specialist) and was a good listener – he seemed to go out of his way to be relaxed and pleasant. He went over Em’s med list with us, although the nurse already had, corrected mistakes and asked questions so he knew exactly what she was taking and why. Then he said ‘start at the beginning and, by the beginning, I mean the EDS stuff, then we will get to the rest.’ So, he got the full story from 2009 until the present – yes, he deserves a medal for listening and attempting to keep up!
He also took a thorough family history (parents, siblings and grandparents) and asked a lot of questions about symptoms – several times. We definitely felt heard – he asked questions if there was a point he wasn’t clear on but he mainly listened a lot. Part way through, he stated he was going to start typing out his thoughts and we could correct him if we heard anything we disagreed with. So, he started typing his report, talking aloud as he did. (Just want to point out, that I get yelled at when I do that, but Em was apparently fine with him doing it. Go figure!) He typed a book and we had further discussions as he did. When we left, he printed off his report and gave it to us, as well as sending it to the other pertinent doctors. (All the docs at Cin Childrens do this, but the length of this report is unusual – maybe 8 pages as opposed to the usual 3.)
- Mast Cell Activation Disorder – I think he is not ruling it out, but it is a diagnosis of exclusion, since there is no easy way to confirm it. So, he is all for continuing the Zyrtec and Zantac, and is fine with us doubling the Zyrtec dose. I suspect we will eventually get to this as a diagnosis, but he had other, bigger and easier fish to fry in the meantime. He also said, if it is MCAS, all the results will probably be negative anyway, so there is no point in doing more testing right now.
- Eosinophilic Esophagitis – He is definitely thinking this is a possibility, which is no surprise and I even agree with. It is interesting that Em later said his description of how it feels to swallow is right on. He said that EoE is associated with EDS, that he sees way more cases of EoE in EDS patients than he would otherwise expect, so he was not surprised to find this as an issue. He will be working with Dr. Garza to figure it out, since it overlaps the two specialties. I figure that she will be having a scope in the near future, because he did not want to start her on anything that might make it harder to make a determination of what is wrong. He had Em hop off the exam table and used the paper to draw a diagram of a normal esophagus and a EoE esophagus and explained how eosinophils and mast cells are involved. [On one hand, I totally agree with him that this is a primary concern and the easiest to rule in/rule out. On the other hand, I do feel that he focused perhaps a bit too much on this and ignored the issue of mast cell. But, I think this is a long term quest to find answers and an offhand diagnosis would not be appropriate. So, I am ok with waiting for answers.] Flushing, food intolerances and eczema all go along with EoE, so it is a likely culprit. I happen to believe it has some co-conspirators, but we shall wait and see!
- Weird Rash – She has had eczema since she was a baby and he confirmed that the rash she has on her arm is indeed eczema. However, she has a strange rash on her neck that totally stumped him, which she thought was pretty awesome. He waffled back and forth about it and what to do about it. He finally decided to take pictures of it, so he could share it with colleagues and get opinions about how to treat it. It may be eczema, may not be. He spent a fair amount of time looking at it and talking about it. If I had to guess, based of course on nothing but my non-medical gut feeling, I would say it is mast cell related and it looks weird because of her EDS skin. She has said for a long time that it is scarred AND a rash and I tend to agree with her. It has been there for a long time and has gotten bigger and bigger and just looks strange. He asked what our other doctors said about it and we told him no one ever said anything about it or took any interest in it at all. Hopefully, he understood that we appreciated him actually trying to figure it out for her. Of course, that other weird rash, the one she has had around her eyes was totally gone today. Of course. But, if it comes back, we can deal with it then.
- Vitamin D – He is going to be asking for a DEXA scan – he took her vitamin D deficiency seriously and is wanting some answers. Loved this, seriously. Seriously.
So, in summary, good appointment – no concrete progress but progress is imminent. We see him in a month and, by then will have been seen at the motility clinic. I feel very hopeful tonight and I feel validated. This appointment was definitely worth waiting for.