"Suffering the Slings and Arrows of Outrageous Fortune"

We saw Dr. Neilson for a follow-up visit on Friday and it was pretty good… I was a bit anxious to be honest, it was our second time seeing him: the first visit can never fully indicate if the doctor will be awesome, bleh, or horrific. So, this follow-up left us feeling fairly content; that is a very good thing that is not to be taken lightly.

We went over the usual with the following recommendations:

  • More PT (with EDS, it is always more PT, there is never ever enough): Yes, it is an answer as far as strengthening the muscles and it is obviously necessary with EDS. But, I just don’t believe it is the WHOLE answer for the bone draining fatigue she is experiencing, which has only worsened although her health has vastly improved. I think it is all ‘they’ (the EDS experts) have to offer us but I know there is more than her needing to be more active to solve her fatigue issues. So, we have a couple (bajillion) PT issues that could be addressed, but the question is, do it at home or at Cincinnati. Home is by far most convenient, but Cincinnati has more expertise. At home, we get a month, then dismissed. At Cincinnati, it would be ongoing, but we would go less.
  • Shoe inserts  to align her properly and help everything work better: she has some and they hurt, so she doesn’t wear them. Which, for some strange reason causes them to be less than helpful… The Strutz were helpful, but hers got stretched out, so we need to get new ones. He also suggested going to be evaluated at certain shoe stores – some will evaluate your gate and arch and so on and fit you with the perfect shoe. I have written about how horrific shoe shopping is for Em, not sure I want to do it in a high tech way, but, then again, maybe it is the answer!
  • He is sending us to Cardiology to work up her autonomic dysfunction: I have mixed feelings about this, but we will go and I will try to keep an open mind. He was suggesting a beta blocker to help her symptoms, but I know that beta blockers can be iffy with mast cell, so we will just play it by ear.  (We have been referred to Cardiology previously by the neurologist when she failed her tilt table test a year and a half ago. We didn’t make the appointment and let the referral slide because I just didn’t trust them to know what was going on and to be able to help and not hurt, plus it was at the same time that she started the Diamox, so I wanted to give it a fair chance to work. It would be awesome if  we get someone who really knows AUTONOMIC DYSFUNCTION (Not just POTS and the misconceptions that go along with it) and who wants to be a team player but forgive me if I am a wee bit skeptical! I will believe it when I see it…)
  • A new Miami J collar: he has given us a prescription for a new one to replace the old one she has had for 2 years. She had taken to wearing it at night and it seemed to help control her headaches, but it has seen better days. The pads are worn thin, which makes it very uncomfortable. We could get a new set of pads, but the velcro fasteners that allow you to adjust the collar for comfort are shot as well, so we just need a new one. He said he doesn’t like to give braces because people rely on them to the point their muscles weaken. (I don’t totally agree with that, but whatever.) When we said she wears it only at night and occasionally on long car rides, he was ok with that.

I chickened out about bringing up mitochondrial disease during the appointment. I am more and more convinced that it is a possibility, but he kept going on about how PT and exercise was the answer for her fatigue and I decided to not go there at the time. I just don’t think  her fatigue is the ‘golly, my muscles are working twice as hard as everyone else’s so I am really tired’ variety. I think there is something deeper going on and I am highly skeptical that just pushing through is the answer. But, I decided to fight that fight another day, instead of throwing it out there right now. My plan is to talk to the neurologist PA and start talking about mitochondrial disease – see if I can get him thinking about it. If I can get anyone else considering the possibility, then I will talk to Dr. N next time. The snail’s pace of progress that we are making drives me up the wall, but it is what it is and I don’t think this portion will move fast in any case, so I may as well settle in for the long haul.

In general, though, I am pleased with the outcome. There are a couple issues I disagree with him on, but I disagreed with Dr. T at times as well, so no big deal. (Actually, I don’t know what I would do if there was a doctor I couldn’t disagree with about something!) It is a huge relief to have someone on our side, working with us to get us where we need to go. We see him again in 6 months instead of a year and the appointment is conveniently on a Wednesday instead of a Friday;  can’t ask for more than both a decent, involved doctor and convenience!

[ I am going to do a Part 2 where I will talk about the medical student who sat in on the appointment and the interesting discussion that was had and about the level of EDS knowledge Dr. Neilson demonstrated...]
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Comments on: "Genetics Follow-up Part 1" (11)

  1. Your daughter sure reminds me of my Abby- we have asked about EDS and they say no need.. 🙂 I think once they have decided on a label they don’t like to change it or add to it, or investigate others.. for Abby she is such a floppy thing and can dislocate much.. her skin is sooo tender and delicate- many symptoms that do not fit the Mito depletion, on the other hand the overwhelming fatigue and other issues do fit the Mito picture. Add to it her wild and extreme allergies(we really should take her for an MCAS work up) and you start to wonder if this group of kids have their own disease process going on, that or they have all three! Rare on top of rare on top of rare. I would think their own”disease” is statistically more likely then 3 rare diseases.. 🙂 Seems like a lot of 12-23 year old girls especially with a very similar disease process.

    • I think you are absolutely right. I mean, Dr. Driscoll has been piecing parts of this together for a few years now and is on the trail of real answers. The question she asked initially that grabbed me was ‘Why are some EDS patients SO ill?’ We see many EDS patients who are perfectly fine – I have heard of some who even run marathons and certainly many at least are able to work and live normally…My husband and son are in that category, but Emily is so debilitated and we don’t have good answers. There must be SOMETHING that causes some EDSers to be so darn ill.

      As parents, we are asking the questions about all of these weird things, these constellations of symptoms, and how they came together in one child (rare upon rare upon rare, like you said). But, it seems like the EDS specialists are focused on the basics. Do PT. Eat well. Treat your POTS. The slew of weirdness that is bubbling just under the surface is usually not acknowledged because they don’t have answers.

      I am really to the point of believing that there is a subset of patients who have ‘something’ other than just EDS. I don’t know what it is, but I am suspecting that mito or some specific manifestation of it in EDS and I KNOW mast cell disease is involved too. Like you said, Em’s symptoms don’t all fit with the known mito conditions, but my gut tells me her fatigue/bad reaction to the slightest stressor does and when I found out that gastroparesis and autonomic dysfunction are symptoms of mito, it started clicking for me. What if the gastroparesis and autonomic dysfunction that goes along with EDS (is seen as just a normal part of EDS) is actually some unknown/unientified mito issue? Maybe I am grasping at straws here, but I know something deeper is going on. And the ‘simple’ solutions for EDS are not solving it.

      There is a discussion on Inspire by a mom who has been told that their EDS is possibly mito related and the researcher is going to be studying her family -her and her daughters.(The discussion is here: http://www.inspire.com/groups/ehlers-danlos-national-foundation/discussion/connective-tissue-disorders-and-mitochondrial-disorders-dysfunction/ If you are not a member of the EDNF inspire group, you won’t be able to see it, but it is a really informative discussion that might be worth joining.) That discussion is what got me really looking into the idea of mito, but it is so poorly understood that even getting a diagnosis isn’t much help and our doctors are going to be clueless.

      I guess all we can do is keep pushing for answers, even when there are none that are obvious. Someday, future generations will have the answers and have a much easier time living with EDS. In the meantime, I hope you can end up getting answers for Abby – it is hard to push through the arrogance that doctors have sometimes, but you are the one who knows your child best. Good luck!

      Beth

      • Ty Beth for the link, I will check it out- My “gut” agrees with you. Something is going on that the Drs. are not recognizing or acknowledging. Whether a subset of EDS or subset of Mito or weird manifestation of Mast or a whole new disorder, it exists- our children live it. Your daughters triggers and reactions are familiar to Abby. The gastroparesis and the works. A tiny stressor like even hair washing when her energy is not in the right spot might set off the dysautonomia.. a sniff of fragrance… a food…she crashes, extreme fatigue, poor digestion all the POTS symptoms and more.. then magically after removing(first you have to figure out what in the world she is reacting to now!) such a tiny antagonist she gets back to her baseline. I often wonder if because she has never had any acute dramatic issues(ER kind of drama) if that makes her lower on the totem pole to specialists to figure out what is going on.. some days I feel like because we are on top of these extreme sensitivities many of Abby’s issues are considered not significant.. It is definitely a challenge. We call it “fading” and it isn’t prioritized like acute- I understand but it doesn’t relieve my frustration one bit.

        All we can do is keep trying. We are gearing up to try a few new Drs. and see where we get- Abby is 18 now so we can avoid pediatrics(mixed blessing) and take a look at this from an Adult standpoint- might shake some new answers..

        Until then, I am grateful for families like yours- you remind me with each post that we aren’t alone, that there is clearly something unidentified with all of our children and we must continue to search.

        • One of the best parts of blogging is meeting folks like you – to know that we are not the only ones going through this is priceless. Being able to help each other is absolutely the greatest part of the internet.

          I think you are right about being lower on the totem pole because it is not acute. I feel like I talk and talk and talk and no one really listens or they just hear what they want to hear. The symptoms are so weird and unusual but aren’t really clearly a serious issue, so everything always gets put on the back burner. Of course, even when things were acute (at least from my perspective, they were acute) we still weren’t paid much attention, so I don’t know. Like you, we are really working to manage the food and environmental sensitivities so Em is better than she was. But only because we are so careful – take that away and her life gets really difficult! No one seems to acknowledge or take serious all of the measures we have put in place to get her quality of life to a half way decent place.

          If you don’t mind me picking your brain a bit… The main reason I am thinking mito, in addition to gastroparesis and dysautonomia and possible thyroid and adrenal issues, is how Em reacts so seriously to medical procedures. I expected her to take a long time to heal from her appendectomy, but almost a year later and she never really has bounced back. Her upper endoscopy, knocked her back for a couple months – the GI symptoms, the exhaustion, the poor appetite, the nausea. The appendectomy made sense, but the endoscopy should not have done anything to her – that was in January and she still is recovering from it. Even just getting blood work will set her back for a few days and ordinary day to day life is plenty challenging. The doctors say pushing will help her get past the fatigue, but I am just not buying it. She has pushed for a year and just is more tired than she ever was. We say she wilts when her energy is used up: she gets pale and shaky and has to rest. I guess if it is not mito, it might be called chronic fatigue, but that doesn’t seem like a real answer.

          Anyway, it is great to be able to bounce things off of each other – you are right, we know something is wrong and all we can do is keep pushing. The answers are coming. I just wish they would hurry up so these kids could get their lives back!

    • Jeshyr said:

      Dianne your daughter sounds a lot like I was. At my worst I couldn’t turn over in bed, sit up, feed myself, or tolerate hair washing or normal light or sound. At that time I just had the stupid “ME/CFS” wastebasket diagnosis too, so nobody would help me properly.

      After I asked them enough times, I was suspected to have a mito disorder and got the full workup including muscle biopsy etc. It came back as no mito problems found, but with a caveat that they didn’t always find something even in some people that seemed to have a very clear mito disorder so it wasn’t a clear “no mito” just a “probably no mito”.

      Now I got my proper diagnosis of EDS/Dysautonomia/MCAD and the meds that go with it I’m quite significantly improved so I don’t look as “mito”ish as I did before, but I’m still almost bedridden etc etc and very ill so I don’t know …

      • 1st: It never fails to amaze me how similar the stories are… I mean, yes, everyone is under the same EDS umbrella, but to have 3 or 4 additional, equally rare conditions, well that says something. I am just not sure exactly what! I sure wish I did, but until the doctors figure it out, I will stick to my opinions!

        2nd: At Cincinnati Children’s, there is a new Mitochrondial Disease clinic, with, one presumes, mito experts. (Although, that may be a big assumption considering some of the crap care we have had.) If I thought they would help and be nice about it, I would have pushed to get Em there but I just didn’t want to get shot down right now. I know that Em clearly isn’t a serious mito case, if indeed that is what is going on, but if that is what it is, it sure would be nice to have someone who knows about it help her get better. A label, even a sucky one that is not easily treated, would be helpful so we know what is going on.

        I strongly believe that we will soon have answers – the dots between all of these weird things will be connected, they will have names for everything that is going on and they will know enough to help EDS patients actually be better. I just hope it is soon enough to actually help you and Abby and Emily and everyone else who is suffering right now!

      • Beth-One of the most frightening things for most Mito Mom’s is when their child has to have a procedure. Often the kids have a very hard time coming back to their baseline. Abby had a kidney biopsy and muscle biopsy back to back and it took a year it just was so hard on her, the fatigue is frightening after that. we call it “hibernation” I would have to wake her to make her eat,drink pee- otherwise she can sleep around the clock for weeks. Once the fatigue sets in she becomes even more vulnerable to colds,flus- a hard time of it. So, yes it is widely understood that procedures and anesthesia can cause extreme reactions in the Mito population.

        With Mito- Exercise is important- but if you push beyond their tolerance you will potentially use too much of their energy- there is a very fine line. Before we knew about the Mito we pushed Abby to finish in high school. She was so sick and so determined and that was the year her kidney’s started acting up- I have no doubt that she was using more energy then she had and caused more damage.

        There are some neat studies about how muscles can produce stem cells etc- but you will also note many mito folks use wheelchairs to “conserve” their energy- Abby says she only has so much each day and is forced to pick- do I eat today or make my bed? Some days she has a lot more energy then others and she does more. She does best when she listens very carefully to her body.

        More is not necessarily better with Mito- and most will tell you the same. She needs to find that sweet spot where she feels like she has hit her maximum without using up all her energy. So exercise for abby could be way different for Em- Abby staying awake and upright all day is often exercise for her. At baseline she does a lot of pacing. Getting dressed for the Dr. is exercise for her.. Depending on where they are at for muscle strength and energy creates different needs. Seems like the faders have a lower tolerance. The acute cases often lead nearly normal busy lives and occasionally will have a major scary crash that causes major damage.

        So far more variables in Mito for symptoms,fatigue, exercise.

        Abby see’s Dr. Kendall in Atlanta. She sees a huge range of different Mito patients and seems more familiar with more of the variables then some of the other Mito Specialists- I know she see’s another young adult with both EDS and Mito.

        From reading your blog the last few months, I cannot tell you how many times you have described Emily getting too tired or not being able to keep up and I think ” She sure sounds like Mito”.. Every time Abby pushes to that symptomatic stage of pale,shaky(we call it wobbly legs) she will likely end up sick, in pain and the dysautonomia flares. Pushing to far actually makes her sicker and then we have to start over again and slowly(oh sooooooo slowly) get her back to baseline..

        • Thanks for confirming my thinking. Em is clearly not as fatigued as Abby, she can get up and do when she needs to, but if she does then she is in bed for a couple days. She never sleeps during the day, mainly because she knows it will mess up her sleep schedule even more than it already is. But, she often needs to rest alone in the bedroom during the day and some days it is a chore just to get up. She can sleep 12 hours a night and never, ever wake up rested. Something is clearly going on. The pieces start fitting together and I am just more and more convinced that there is something else going on.

          But, I fear that none of our doctors will see what I see – some of it is subtle and, because she is so much better than she was 2 years ago, they just expect her to be able to do whatever cookie cutter plan they give everyone else. I have been telling them about her reaction to procedures and stress and the symptoms she is having. Hopefully, that gets recorded and is then something they can go back and look at and know I have been talking about it for awhile! The mito clinic at Cincinnati is pretty new – I think it just opened in the last 6 months or so, so I don’t know how they work. My fear is they will say Em isn’t sick enough and it is just EDS and not be able to help her. And, I didn’t want to bring it up with Neilson this time, if he disagreed and shot me down, it would be harder to get a referral in the future. So, I will be laying the groundwork with every doctor I can in the meantime!

          Thanks so much for sharing your experiences – I really appreciate it!

  2. Jeshyr, you sound like an adult version of Abby!

    I have to say I often wonder how many of Abby’s symptoms are “Mito” and how many are something else.. We “know” we should take her for a MCAS workup- but since she tolerates nearly no medicines(long story) we have hesitated- if we go to just “confirm” our hunch but she at least right now cannot tolerate any of the meds they might prescribe- but maybe it would at least help us understand what symptom is being caused by what disease process.

    You sound very much like what we think of as Mito. No one thought Abby had Mito. It was a surprised when the found the depletion. Also, many patients have been diagnosed with “suspected Mito” when nothing turns up in the genetics or muscle biopsy because clinically it simply cannot be anything else.

    But then again so many of Abby’s issues sound like MCAS- maybe MCAS has a population of “symptoms much like Mito”…

    A while back Dr. Theo(mastcellmaster) had found that mast cells do impact the mitochondria. Which could explain our hybrid population. then always the question, which came first?

  3. Beth: I read your post and thought of Diane and Abby. Diane and I connected through the myopathy yahoo group. I learnt much thorough the great people there.
    I agree with you both there is a subset of people who don’t tick the box nicely..We fall into that with my youngest son. My oldest has a milder form and my husband and I have it. However my youngest is a different ballgame. Fatigue is a big deal. Needs to eat little and often ith plenty of fluids. Delayed gastric emptying, bowels that slow/shut down when he is ill. He was a floppy little ragdoll as a baby. Yet the medical team here say it is joint hypermobilty….
    We have such started home schooling as school was wearing us all out.

    • It is amazing how different EDS can express even in the same family. My husband and son are both mild cases, they function fine. Em, not so much. There has to be something causing that severe manifestation. Folks like Dr. Diana and other researchers are on the right track, I think in 5 or 10 years we will have so many more answers but until then the questions remain.

      The whole question of joint hypermobility shouldn’t even a question anymore, in my opinion. If there are GI, neurological and autonomic issues, it is clearly EDS and not benign in any way! So sorry that your team is caught up in seeing joint hypermobility rather than EDS! Homeschooling is great for living life on your own terms and so many EDS kids desperately need that!

      Good luck and thanks for commenting!

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