"Suffering the Slings and Arrows of Outrageous Fortune"

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.



Comments on: "Endoscopy Results" (8)

  1. Hi there! Can I ask if they ruled out eosinophilic esophagitis, then? Does Em have any problems singing or speaking in a normal, non-quivery voice (if that makes any sense!)? Finally, if you have time, would you mind completing the symptoms survey under “Articles and Handouts” on my website? I think I know what is going on, and am finalizing the treatment protocol now, but I’d like to be sure… Hang in, my friend… Diana

  2. Hi
    Has she been tested for autonomic dysfunction/POTS.
    Has anyone mentioned delayed gastric emptying?
    This is familar story to my son. I am begnning to put pieces together more and more.
    Stay strong. You are doing well working to help and improve her quality of life.
    We do eating little and often, easy to digest foods, plenty of fluids.
    It is hard.

    • Hi Jo,
      Well, yes, to both of your questions, but it is a bit more complicated than even those two poorly understood conditions. She has had a tilt table test and fainted in 8 minutes. We are seeing the motility expert for symptoms of gastroparesis. But, with EDS, as you know, it is all overlapping and interconnected. So, she is also being looked at for mast cell activation syndrome, which has a whole lot to do with all of the above – I think it is the root of all of it, but I have to get the doctors on board! Her autonomic dysfunction improved greatly after starting zyrtec and zantac, but the GI issues are continuing to be a problem. It is just frustrating because I shouldn’t have to do their job for them, not when it is this important.

      She does avoid big meals (although the definition of “big” has shifted over the last year or so!). She eats a lot of fruits and knows what her triggers are and tries to avoid them. Unfortunately, food in general seems to be a trigger and, the mast cell activation can make eating a Russian roulette for her. She has been doing better lately, even gained a few pounds back, but the endoscopy set her back. It feels like we frequently have to start over and help her get back to ‘normal’. We see the allergist on Friday and hopefully, will come away with a plan to address the issues with the GI doc.

      It is hard – I am sorry you and your son are going through this as well. Thanks for commenting and for being so encouraging. I wish you the best!


  3. Hi Beth
    I’m following your blog as I also have H-EDS (plus M.E. and various other bits n bobs). I live in the UK though and treatment here is worse than in the states 😦 I have very similar GI symptoms (last year lost 16lbs in 2 months due to easy satiety, nausea, pain, difficulty swallowing, oesophageal spasm which make me retch etc., though thankfully this did eventually settle down). Had endoscopy, motility tests, abdominal MRI and all were normal! I also have autonomic symptoms like post prandial hypotension, tachycardia, anxiety and an ice-pick type head pain, which I put down to vagus nerve involvement – I can’t get anyone to see me here about it, they just shake their heads and look at me like I’m nuts *sigh*.

    I’m also querying mast cell activation, as I get regular outbreaks of hives and have a lifelong history of immune activation (swelling lips in cold weather as a teenager, and lifelong dermographism which made my endoscopy fun as the force of them putting the scope down caused my throat to swell and they were worried I might stop breathing!). I’ve contacted the leading EDS specialist in the UK, who has promised a reply to my letter (he’s a 7 hr journey away from me, and I’m too ill to travel so have requested a phone consultation), but I’ve heard nothing as yet – I’ll chase him up in the next couple of weeks.

    While it’s devastating to have all these issues it’s at least comforting to know I’m not alone, and not nuts or imagining all these weird symptoms despite nothing ever really being found to be ‘wrong’!

    • Hi there,
      With the exception of the ice pick headaches, you sound so much like my daughter. I guess that should be no surprise to me – so many EDSers are in the same boat! Which makes it all the more frustrating that so many doctors are clueless about EDS and everything that goes along with it.

      I have heard how difficult treatment in the UK is. Before I joined the EDNF message boards, I spent a lot of time on hypermobility.org forum. If you are not currently on it, I highly suggest it – they are nice folks who have a wealth of knowledge about getting treatment in the UK. I assume you are waiting to hear from Prof. Grahame? If so, he is probably going to be worth the wait. He seems like a really lovely man and a great doctor. He spoke at the conference this past year and he is wonderful. I so hope he is able to help you.

      I know how hard it is, but the best advice I can give you is to just keep pushing for answers. Each piece of the puzzle improves the quality of your life. It is hard but just keep pushing! When you get those ‘looks’ from doctors, just remember that there are others who know exactly how sane you are.

      Thanks so much for reading and commenting!

      • Yes, it’s Prof Grahame I’m waiting to hear from. I’m not as bothered about the GI stuff atm as I am about my drug reactions. I can’t find anyone who reacts to drugs like I do! I used to be able to take just about anything (other than anti-emetics, which gave me an Oculargyric Crisis), but then one day about 15 yrs ago I had a weird nervous system reaction to a sedative (including being highly aggitated and pacing around the room like a lunatic – a bit odd for something that was supposed to be helping me sleep). Then 1 year later a similar reaction to Melatonin, then after that just about every drug known to man over the space of the last 10 years!! I now can’t even take Tylenol, which I took regularly for pain for years without any problems.

        I get a peculiar feeling in my head, a bit like my brain is in cramp, followed by flushing, a massive thud in the chest like I’ve been kicked by a horse, then tachycardia, muscle spasms, nausea/retching/oesophageal spasms, painful pins & needles all over my body, severe muscle weakness, extreme aggitation and anxiety (not mental, physical, if that makes sense – like a fight/flight reaction with a huge outpouring of adrenalin) and various other symptoms. It’s the same reaction no matter which drug I’m reacting to, though things that act on the nervous system like sleeping pills, sedatives and pain meds are particularly bad.

        The weird thing is, once a reaction sets in it doesn’t seem to stop……..the last one lasted 3 weeks, and the 24/7 tachycardia gave me chest pain so severe I was scared enough to ring my doctor and was rushed to hospital in case I was having a heart attack. For the most part though no-one in the medical profession is interested, as they all say it’s impossible to react to all medications in the same way and that I’m having a “panic attack”, which I know you’ve had levelled at your daughter. It’s so ridiculous – what kind of panic attack involves pain all over your body and makes you vomit for weeks on end?!

        I’ve been prescribed Zantac for my GERD, but am too terrified to take it, even though I know Diana (who I think is totally fabulous!) advocates it for POTS and it might help me, but I also might react to it too. If you know of anyone who has a similar reaction to drugs (not just a sensitivity to one or two medications) do let me know – I feel like a medical freak ;-).

        Jak x

        • I don’t have specifics to share, but you are not the first person I have heard having serious issues like you with medication. I am pretty sure there are at least a few people on the EDNF forum who are in, if not the same boat, at least a very similar one. So, I do not at all think you are crazy! Em has mild issues – nothing like you described, but enough to be concerned whenever she starts a new med. She tends to be either very sensitive or needs large doses for a med to work. Makes things exciting!

          Oh, and the physical, as opposed to mental, anxiety – totally. We call it brain vs body anxiety. This is such a common thing for ESDers – Em will say,’ my brain knows there is nothing to be freaked out about right now, but my body thinks I am going to die’. So strange to feel that while your brain is logically thinking, ‘hmmm, that is a little odd, since there is no reason to feel like death is imminent…’ And, almost every EDSer to a person, describes this very feeling.

          Have you read Dr. Pocinki’s thoughts about EDS? In a nutshell, he thinks people with EDS have a very hard time staying in homeostasis – staying in the normal range of pretty much everything – and that theory really explains a lot about what EDSers go through. After even a minor change, like standing up or a change in temperature or taking a fairly harmless medication, the body goes a little crazy trying to get back to normal. It is like a driver who drifts off to the right – they jerk the wheel and overcompensate to the left, try to right themselves, then jerk the wheel again when they drift to far back of to the right. It takes longer for an EDSer’s body to regulate itself after a change – heart rate, temperature, standing up/laying down, etc. He has found some very interesting results regarding autonomic dysfunction and adrenal issues. It is not panic attacks – and any doctor who goes there is just being lazy.

          This is his presentation at the conference last year. The slides pretty much detail what he was saying and this is his standard speech on the topic, so it is a good resource: http://www.ednf.org/images/2012Conference/Handouts/Pocinki_EDNF2012_3notesS.pdf

          This is an article he wrote about hypermobility – some of it is really basic, but his explanation of the sleep, anxiety and autonomic dysfunction is eye opening:

          While some of what you describe just goes along with contrary medication reactions (like the agitation from a sedative),other parts of what you describe definitely sound like a mast cell reaction – especially to pain medication. Mast cell activation is so complicated and can be so random – one day you can be fine with something – food, medication, whatever – and the next day, you can have a horrible reaction to it.

          If you can tolerate the zantac and add in zyrtec, it might help control some of the symptoms. But, I understand how difficult a proposition that is… And I know how hard it is to address mast cell disease in the UK. There is a gal from the UK on Inspire who has MCAS and she might be able to help you. Her name is Josie and she has a ton of knowledge about MCAS.

          At any rate, you are not a medical freak – you are pretty normal as far as I am concerned!

  4. Thanks so much Beth for all the fab info 🙂 I’ve joined Inspire and posted about my drug reactions so I’ll see what replies I get, and also do a search for MCAS when I have the mental energy/clarity.

    You’re doing a brilliant job with Em and I look forward to reading how she gets on x

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