Endoscopy Results

We heard from the doctor regarding the results of Em’s endoscopy, 2 weeks to the day after her procedure, just like he said.

Everything came back normal except one biopsy – her lactase level is severely low – the low end of the range is 15 and hers is 1.1. Which just means that she is (officially, I guess?) lactose intolerant. Which we already more or less knew, because dairy definitely is a problem for her. His suggestion was to use Lactaid. We can follow up if her swallowing issues continue…

That is all well and good, but I just don’t see how that addresses the very real issues she is having. I mean, yes, we have known for quite a while that she is lactose intolerant. She copes by avoiding/limiting her dairy intake. This is just not a huge, big deal for her. It certainly isn’t the core of her symptoms and it really isn’t news.

What is a huge, big deal is the poor motility, poor appetite, constant nausea, early satiety and food intolerances. Both Abonia and Croffie are focusing on the swallowing issues, which again, are not the biggest problem. I am very aware that her issues are not at all as serious as those faced by some EDSers. The constipation has been controlled by religious use of Miralax, she has gained a little weight back and is able to take in enough daily calories to maintain. I am enormously grateful that she is holding her own and not getting worse at the moment.

But, even the endoscopy itself has set her back. She is struggling with abdominal pain, nausea, poor appetite, early satiety to the point of probably losing weight again instead of maintaining. It takes so little to throw her back into that cycle, although she is never out of it – it just ebbs and flows. I know that there are many others who are more seriously ill but, I would really like to prevent her from getting even worse, if at all possible. I thought that is why we were seeing a motility specialist.

So, I am  feeling a little confused and adrift… I get the impression (I didn’t talk to the Doctor, my husband did) that he doesn’t really need to see Em again, but will if we want.

I am also pondering the why of such a severely low lactase level. Is something causing it? I know that lactose intolerance in and of itself is not a big deal and I am not concerned about it exactly, but, I just have a sneaking suspicion that there is something else going on here. If her level was just low, I probably wouldn’t think twice about it, but she is severely low and that is a red flag to me. After a quick internet search, which was pretty fruitless, I did find a couple little nuggets that make me wonder more…But, I am left with half formed theories revolving around mast cell activation that probably couldn’t be proven anyway.

I guess we wait and go to the appointment with Abonia next week and see what he says. I doubt that he will be convinced that EoE is off the table, but I would love it if he would at least be willing to address the issue of mast cell disease now. Then we need to figure out our next step with GI. I think it is clear we need to follow up and do further testing. I don’t see any other option but to push Croffie to investigate further – we need him to order the tests so insurance will pay for it. Ultimately, maybe we could get back with Garza at Cincinnati Children’s but I just don’t think that is an option right now.

This is my least favorite part of this process: back to square one, knowing exactly what the problem is but not having anyone who will slap a label on it, and having to be the one to push for answers from people who should be finding them for me.

 

Endoscopy

As usual, the worry in the lead up to Em’s endoscopy was greater than necessary and we had a blessedly uneventful morning. Although, there were some real concerns that have to be addressed with EDS and I am glad I spent time planning for them, I am just glad nothing came of them.

Again, the staff at Riley was excellent and, because they made good choices, the procedure went smoothly. She was delivered back to the post op room within the hour, the procedure took maybe 30 minutes. The anesthesiologist popped in to tell us how things went and then Dr. Croffie came by with pictures. Basically, everything looked normal – no smoking guns – no obvious EoE, no GERD, no ulcers, no structural issues.

So, now we wait on the biopsy results to see if anything shows up there. If so, we can address it, if not, we follow up and see what is next. Personally, I think we are getting closer to saying that it is just mast cell and gastroparesis, but what do I know?

Here are some of the things that went right yesterday and made the process smoother:

• She got to wear her hard collar through the whole procedure – both the anesthesiologist and Dr. Croffie were fine with it and I think it helped. Unfortunately, her neck is still sore but I think it could have been worse without the collar. (This feels like a huge victory because when she had her appendix out, we were told she could have it on but the anesthesiologist made her take off it once she was back in the OR. Which was not ok and has bugged us ever since.)
• They usually do the anesthesia with the patient lying on their back, then reposition the person on their left side for the scope once they are out. The anesthesiologist initially said they couldn’t let her position herself because the anesthesia had to be done while on her back and they would just have to be extra careful moving Em. She did ask about the problem joints and we felt she understood our concerns. However, Em said that they decided just to leave her on her back and not risk rolling her over. I think that was a very good choice. She is sore and spent time afterwards putting herself back together but I don’t think she had a major dislocation so that seems like a good thing. (I am suspecting that they did move her to take her to the recovery room and that may be why she is so sore.)
• She was able to hydrated up to the last minute – she drank a couple bottles of water and half a vitamin water before 6:30, so that was a beneficial thing. She was also allowed to take her morning meds, so she didn’t miss a dose.
• I got her some Sea Bands and they helped control the nausea, both motion sickness on the way there and the post op nausea. She still felt queasy but her nausea started diminishing once we put the Sea Bands on her afterwards. I used them when I had severe morning sickness when I was pregnant, the kids have used them through the years for motion sickness, but I had sort of forgotten about them for Em’s ongoing nausea. She will keep a pair with her now and use them whenever she gets nauseated.
• The doctors listened to my concerns, clearly. Because they listened, the morning went smoothly – I felt better about proceeding and they had the information that allowed them to make good decisions. Communication is important.

All in all, it went smoothly – her throat wasn’t even sore afterwards. Her chest is – she was complaining about her ribs hurting as soon as she was awake enough to complain. We are assuming it is from where they pumped air in during the scope or maybe when they moved her afterwards. She also started complaining about feeling like she had heartburn last night which is to be expected. She is very tired and the nausea is lingering, but she was nauseated pretty much constantly before the procedure, so that is no surprise. Otherwise, she feels pretty good.

So, we are glad to have this over and done with – it wasn’t horrible but we are fortunate to have avoided the worst of what could have happened.

Allergy Follow Up

We saw Dr. Abonia for a follow up yesterday and, he was just as nice as he was the first time we saw him. If he seems a little preoccupied with the possibility of EoE and seems to be not at all focused on MCAS, I am able to tolerate it and give him time to, hopefully, get on the same page I am on. After all, we are delving into the strange and rare in either case and EoE will need to ruled in or out before we can even start to address the possibility of MCAS. He seems to be not really considering it at all and I remain convinced it is the problem, so we shall wait and see. (Although, in our report, it still mentions investigating both MCAS and EoE, so maybe it is still in his mind more than I think.)

He confirmed that Em’s bone scan is normal,  by the standards Reid uses. So I interpreted that to mean he just had to accept their reading of it but could not verify the accuracy himself. He was as shocked as I was by the fact that Em’s vitamin D level has increased as much as it has (from 6.1 2 months ago to 25.9 now) but is still concerned and feels she needs a higher dose of supplementation. He said to mention both her bone scan results and vit D levels to the new GI doc we see on the 10th, but I think I will see what I can do about it before then. [Apparently, the only pediatricians on our insurance are in the office I am currently unhappy with. But, our other option is to go with a family doc and I am willing to take that step at this point. Andrew has one in mind that he trusts to manage a complicated case like Em’s, so he is going to try to talk to him. So, that issue is on hold but is being dealt with.] He also suggested that she get with a dietician, through the GI doc,  to help figure out the  vit D deficiency and other food issues.

Dr. A was pleased that the hydrocortisone cream and vaseline has improved the rash on her neck. He suggested the vaseline and I later suggested the cortisone cream because that is what we used to use on her eczema when she was young and it worked well. At some point a couple years ago, Em decided that the cortisone cream was pointless and stopped using it. At which point, the rash got worse and worse. When she grudgingly tried it again at my suggestion after Abonia made a big deal of the rash, she was horrified to see how quickly it worked. But, beyond being aggravated that she could have kept the rash in check for the last couple years, she is happy to be rid of it and to have a way to manage it. He is tentatively labeling it as eczematous – which, from what I have read, just means it is a rash related to plain old eczema. I think that is likely the rash she has had on her face, but, since it is gone for now, couldn’t get an opinion on. He wants her to keep on with the vaseline and limit the use of the cream as much as possible.

One thing I liked was that he wanted to know what we wanted out of this visit – my first thought was to say that we were just following orders to follow up. Apparently I have had too many doctors not feeling the need to make an appointment worth our while to understand the concept of ‘let me do  more for you’! He is still convinced that the flushing is likely caused by EoE and not MCAS, but he pondered out loud as to what else we could try to help address the flushing. He suggested Singulair, which I was happy about because I knew that was the next MCAS treatment. That was actually the one thing I wanted to get out of the appointment, but was tiptoeing around. He talked about the really negative side effects (ie – suicide risk) and I was not thrilled with those. But, it seems logical to give it a try and we can just keep a very close eye on her as she tries the new med.

He wants to see us back a week or two after we get an endoscopy, which hopefully the new GI doc will order. It all feels very up-in-the-air which I don’t love, but at least we have a plan going forward and he was great about suggestions and listing things we need to talk to the new doc about.

One funny thing is that he started muttering about us doing things before he could even suggest them – like the Zyrtec and Zantac and the hydrocortisone. What made it funny was that I wanted to try Singulair before he suggested it – it was on the list of questions I had written down. So, I tried to make him feel better by not mentioning I thought of it before he brought it up and let him think it was his idea.  🙂

So, it was another good visit and we have a plan going forward, and we feel good about making some progress.

Another good visit

We saw Dr. Garza, motility specialist at Cincinnati Children’s yesterday. I was pretty nervous about it if you couldn’t tell.

Whenever I prepare to go to a new doctor visit, I feel like I am cramming for a test. (20 some years after graduating, I still have a recurring nightmare where I suddenly realize I haven’t studied for a test that is starting in two minutes. It is enough to make me bolt awake in a cold sweat. So, maybe it is not surprising that my brain thinks it is cramming when faced with a ‘test’ like a doctor visit.)

Anyway, I really feel like I have to study in advance – to know everything that could come up, to be aware of any medications, side effects, procedures, treatments that might be discussed. Of course, I am always at a huge disadvantage because I didn’t actually go to med school like the doctor and having little faith that the doctor is going to do his job without my input just heightens the pressure. It is beyond frustrating and intimidating and nerve wracking… thus my need to cram.

Imagine all feeling all of that, then instead of the impossible test you were expecting, the teacher/doctor pops in with a smile and just has a nice chat with you, casually reviewing the subject at hand. Instead of an exam, you actually get a lesson from a kind, knowledgeable teacher. That was what our appointment was with this doctor. Crazy, right?

He totally threw us off by coming in and chummily chatting with Em about her hobbies and life. He asked about EDS and about her ‘tricks’, making a point to say he wouldn’t ask her to show him her tricks because he knew it wasn’t good for her. Then he asked her about what was going on. He pushed her to talk about her symptoms and problems. When she was quiet, he told her she didn’t have to talk, but, if she didn’t, she couldn’t complain about it later.

His opinion is that she has the typical presentation of GI problems that go along with EDS. Basically, he wants her to keep on with what she is doing since it is mostly working. He feels that her problem is a functional bowel issue, that the nerves in the connective tissue of the gut are hypersensitive, causing pain, nausea, poor appetite and constipation. Going forward, some of this will be a matter of managing symptoms and doing testing to see what is going on. Some of it is a matter of pushing through the pain, “not eating is not the answer”.

He does want her to have an endoscopy, which is no surprise, and there we run into a problem, which is also no surprise. We are in an insurance pickle and we are not sure BCMH will be able to pick up the slack which is incredibly frustrating – I will write another post about that, but, suffice it to say, being able to have any testing done at Cincinnati Children’s is highly questionable atm.

So, when he found out that Riley is in network for us, he got excited and said he knew a great doc there who he trusts totally, who could help us by taking over Em’s case. In addition, he wants her to do some cognitive therapy and, since it ain’t gonna happen at Cincy, it is wiser to just head to Riley to do it all in the same place. I feel a little conflicted about this, because I really liked this guy and I would rather stick with him because he seems to know what is talking about. And he is pleasant and kind and funny. On the other hand, if we need to go to Riley to actually get what we need, well, so be it.

My brain is tired today (yesterday was a LONG day, in more ways than one) so I am waffling a little about this. My gut (no pun intended) is wanting to stay with Garza, but I just don’t know if it is practical. It probably isn’t and I am second guessing that decision all around and probably will for some time.

So, here are the symptoms we discussed and what he said about them:

• Chronic Constipation – keep on with the Miralax since it is working. Pooping is good, not pooping is bad. (I would call him Mr. Obvious, but I liked him too much!)
• Early Satiety/ Poor Appetite/Nausea – eat small, frequent meals. Avoid the foods that are real problems, but don’t avoid eating. He is encouraged that her weight loss has stopped and she has even gain a few pounds back – it is a good sign.
• Pain – she needs to train herself to eat and not avoid eating. He also told her to try taking peppermint oil capsules – that they really help and have no side effects. He recommended a brand called Complete Relief, but we have not tried it yet, so I can’t speak to whether it helps or not. Peppermint is an anti spasmodic, so it makes sense that it could be helpful. Will post when she actually is able to try them.
• Swallowing Difficulties – he thinks an endoscopy is a good idea, but that it will likely be normal. Where that leaves the idea of EoE, I have no idea – he certainly didn’t seem convinced this was the issue. We follow up with Abonia at the end of the month and I am hopeful that we can turn our focus back to mast cell, but who knows.

The end result is we have the possibility of another highly recommended doctor within our insurance network, which is good. It could take some time to get to him, so that is not good. No real help at the moment, other than the suggestion of peppermint oil, but things are also going ok so there is no real emergency to add additional medications or take any specific actions right now. Also, he did not suggest she come off any of her meds, although he did comment on the reality that she is on a lot – nor did he suggest going gluten free. So, no big advances but some small hopes of eventual progress and none of my fears were realized. We were really pleased with him and a little disappointed that we wouldn’t be seeing him again – although I am reminding myself that we can always head back to him, if this other doctor doesn’t work out.

It is a relief that this one is behind us – to be told we are not crazy, that these issues are real and need attending to, and at the same time, we are doing ok. It is a huge validation and so gratifying to have been treated nicely. If you have a chance to see Dr. Garza, I definitely would encourage you to do so – he was pretty great, at least on first glance!

Mast cell appointment update

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.)

Results:

• 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.