"Suffering the Slings and Arrows of Outrageous Fortune"

A few weeks before our recent appointment with Dr. Neilson, we got a letter in the mail describing a study the Connective Tissue Clinic is running through February. They are studying the effects of puberty on EDS and want siblings/close family members between the ages of 6 and 21 to come to appointments to participate in this study. It seemed to me that my son is exactly the person they want to study – he clearly has signs of EDS but is basically asymptomatic. He was worse as a kid but has been fine since puberty – he fits in exactly with the model of boys getting better after puberty while girls get worse. So, I eagerly ‘invited’ my 18 year old son to go with us to this appointment so he could participate and he agreed to go along, although perhaps not eagerly.

Dr. Neilson did Em’s appointment first, then I went and got my son from the waiting room.  I had to sign a consent form for Em but Luke was old enough to not need my consent. Both kids had to fill out a nice long questionnaire. Took them probably about 20 minutes to fill it out – it took Em longer to do hers because all (or most) of Luke’s answers were easy ‘0s’ or ‘No’s’ while Em had to think about pain levels and where things hurt and so on. I actually don’t know what all the questions were because neither kid let me look over their shoulder while they filled it out – I only know what Em asked me to help clarify for her.

As they were starting to fill out the questionnaires, Dr. Neilson briefly examined each of them and recorded his findings on a form for the study. A quick run through of the Beighton Score, plus the backward prayer sign and a measurement of how far their jaw opens. He also briefly examined the stretchiness of the skin and asked about bruising and scarring.

Ultimately, Luke was told he had a Beighton Score of 3, although he was able to do the prayer sign and, while I have no idea what his jaw measured, I know he can easily put three fingers vertically in his mouth.  We also talked about how he was much more flexible as a child and gets dizzy when he is standing up.

Dr. Neilson said Luke did not score high enough to be diagnosed with EDS right now but if he was having pain, the standard would be different. (I assume he was referring to the diagnostic criteria for EDS.) My gut says that his questionnaire will fill in some of those blanks – and, indeed, I suspect that he will look a lot like a poster child for a affected but asymptomatic sibling. He was flexible as a child and lost much of it through his teenage years. He had growing pains and injuries. He has had some finger dislocations, but no other dislocations. He has to watch his fluid intake and, if he isn’t careful, can go into pre-syncope that he always is able to relieve by sitting down.

To me this raises the million dollar question: What do you do with the (typically male but not always) asymptomatic relatives who have clear signs of EDS but don’t quite meet the diagnostic criteria right now? I mean, my son has clear signs (IMO) and has a formally diagnosed first degree relative. He is almost a carbon copy of his dad – who gets more and more symptomatic every day now that he is in his 40’s. So, if EDS is genetic and one is born with it, Luke obviously has it – to say he doesn’t is just wrong as far as I can see. The best we can say is that he doesn’t need a diagnosis because he isn’t having trouble with pain.

But, is that the best way to handle these folks? They don’t suddenly ‘get’ EDS one dark day – they have had it from birth/conception if they have it at all… Should we wait until they are falling apart to offer a diagnosis and help? Wait until they are in severe pain before addressing their issues? Or, should they be tentatively or provisionally diagnosed so they can access the proper care that will help them avoid falling apart at some point in the future? I don’t claim to have the answers but it seems to me that this is kind of important.

Look, I get it, I really do. There is a multitude of reasons for not addressing this: The folks in question don’t even WANT a diagnosis, they are fine right now and, if they have a diagnosed family member, they probably know what to look for. The EDS experts are already over worked and over loaded with the difficult cases. Why bother diagnosing someone who isn’t looking for a diagnosis, particularly if that person may NEVER get really ill? Insurance companies would strenuously object to diagnosing someone who doesn’t meet the criteria – that criteria is there for a reason. I am not really advocating diagnosing every family member who shows signs of EDS. Heaven knows, my son doesn’t want it until he absolutely needs it and my husband is the same way.

Fortunately, the doctors at the Connective Tissue Clinic understand that this is a piece of this puzzle that needs looking at. The real answers we need could be in the asymptomatic or mildly affected family members. Why does puberty affect girls so negatively while making the boys better? (And, as Dr. Neilson told us, at least they THINK it does and this study should confirm that.) Yes, it is hormones but is there more to understand? What about the role of testosterone? Why are some kids born with terrible, debilitating EDS problems and other kids are fine until…puberty or a virus or an injury or a car accident. What really causes that cascade of symptoms and dysfunction? Why is it that some people with EDS can be fine their whole lives, while others are triggered by seemingly nothing? Why are some EDSers so terribly sick while others can run a marathon?

When the experts can answer these questions, we will find ourselves with a deeper understanding of the mysteries of EDS and, thus, will be able to offer the best interventions for the various problems.

It is these questions that this study will start to tease apart and I think it is nothing but a good thing. My hope is that they eventually go in the other direction and look at older family members because there are vital answers in that direction, as well. As Dr. Neilson told us, the only family members they see in the clinic are the ones who are really ill – the mildly affected or asymptomatic ones stay home because they don’t need help. And, to really understand EDS, they need to be able to see them too. Which is what this study is all about.

If you are scheduled to see Dr. Neilson in the Connective Tissue Clinic (and I assume Dr. Schorrey, although I don’t know for sure) through February and you have a close family member between the ages of 6 -21, you may be able to participate in this study as well. If you didn’t receive a letter yet, give them a call and ask about it – we received our letter just a couple weeks ahead of our appointment so if your appointment isn’t for awhile don’t expect a letter anytime soon.

I am really grateful that Dr. Neilson is one of the few EDS doctors in this country who really is searching for the answers – which means he is trying to ask the right questions in the first place, which is half the battle. I find myself profoundly grateful that we have such wonderful doctors who are trying to unravel the mysteries of EDS, one thread at a time.

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Comments on: "Genetics Follow-Up Part 2 (EDS Study)" (12)

  1. Hi
    Thanks for that….interesting…as a 49.9 year old man with EDS, some of this does fit me. I obviously didn’t know I had EDS when I was young, just lots of trips to the doc and prescriptions for “tonics” but it was clearly the problem when I think back.
    I did get better after teenage years; I still had painful joints and real proper competitive fitness just didn’t come but I ran some 10Ks and half marathons and cycled hundreds of steady miles per week and enjoyed mountain biking. Running was always hard with throwing up and runny tum always a feature of long runs.
    Things got harder in my thirty’s and then drastically harder when we moved to Cyprus in 1999 and my lifestyle changed drastically from cycling to work every day to driving over bumpy mountain roads for an hour to get to work by 7am then being on my feet all day and driving home and much much less cycling. Things have progressed from there to my current fairly decrepit, arthriticy, PoTSy self.
    Professor Grahame – UK No 1 EDS expert – said this change in health with a big change in lifestyle is quite typical, but not sure if he meant with men only.

    Thanks again, be interesting to hear more on this subject from others and also when they have some more information. from their study.

    All the best to you all.

    Cheers

    Graham A

    • I think you are right about the change of lifestyle issue. Professor Grahame probably meant everyone but I think men are definitely affected by this one. It is like knocking over a domino and watching the rest fall over too.

      I am really excited about this study – it may not be groundbreaking, but they have to start somewhere!

      Thanks for commenting! If I hear any info about the study, I will be sure to share!

  2. Shanda Driller said:

    Thank you for sharing more about the study. We too received the letter. Our appt is scheduled for the first week in November. I am really looking forward to meeting Dr Neilson as we’ve waited almost 6 months to get an appt.

    • Good luck with your appointment! Please let me know how it goes – I will be thinking of and praying for you and your daughter!

  3. Jeshyr said:

    Another question that I wonder about is what chance these not-sick-but-affected siblings (or other family members) have of getting sick in the future. If they have, say, only got a 5% chance of ever ending up ill then not diagnosing or treating them makes more sense but if they have, say, a 25% or even 50% chance of ending up sick then it’s different.

    One of my brothers had very hypermobile fingers as a kid, and other things which I think are related to this whole mess (anxiety and migraines at least, maybe other stuff I don’t know about), but he’s not “sick” as far as I know. He’s only in his mid twenties now though, so who knows what the future might bring… I hope for his sake that he never gets sick, but we don’t have any statistics that can tell us.

    • Very good points! Unfortunately, I suspect the chances of getting ill at some point is fairly high. But, maybe I am biased…

      I guess if the question is not ‘getting sick’ but ‘getting very sick to the point of being non functional/ functionally disabled’ then the chances are probably lower. But, I am betting that everyone with EDS is going to have SOME issues at SOME point in their lives. I just have a feeling that the ‘normal’ mildly affected EDSer will have issues that would be better served by a diagnosis and access to treatments/experts.

      The truth is, they – the experts – know so little about EDS that they can’t even begin to make predictions for an individual. But, it seems silly and counterproductive to wait until someone falls apart to address the issues that are possibly waiting down the road when you could keep an eye on it from the beginning. But, with limited resources, I guess it makes sense to focus the most care on the most ill.

      No answers here – just lots of questions because my son is in much the same position as your brother. Fine for now, but who knows what the future holds? I cling to the knowledge that we know what he might be facing and the knowing will make all the difference if it happens.

  4. Megan said:

    Thank you for this post. We are approaching a genetics diagnostic appointment for our 4 year old son in a few weeks. He is very hypermobilie but very mildly effected in every other way. Our 6 year old daughter is severely affected. We question whether he ‘needs’ a diagnosis? If he follows the pattern of other obviously affected (but undiagnosed) men in my family he can expect to remain largely asymptomatic. We’ve tossed it around a lot. We can only in the end hope that perhaps with a diagnosis we may better be able to prevent injury, steer him to appropriate sports, get him support at school quickly if he needs it and keep him monitored by an appropriate team of practitioners to prevent the ‘downward spiral’ that so many EDSers have. We are Australian & hence do not have any health insurance concerns. Our children’s care is completely covered by the public health system. However it will have an effect on the cost of ‘temporary disability’ insurance he decides to take out as an adult – making it more expensive. It’s quite a challenging decision to make ….. whereas for our daughter it was a no-brainer.

    • We were in the same position with our son and daughter, except my kids were young teenagers when it became an issue. For our daughter, once she went downhill, there was no question about needing a diagnosis. We had to seek one so we could get her the care she needed and it has made all the difference. We are sure our son has it, but had to acknowledge that there was no need for a diagnosis now. We have been able to educate and guide our son without a diagnosis but for a child as young as your son, a diagnosis can open doors.

      Here in the states, they don’t like to diagnosis young kids – sometimes even if they are obviously affected. But, it can make such a difference with the school and everything. Knowing about potential problems and how to solve them can make the difference – I wish like crazy that we had known when my daughter was young and before she was really ill. It seems obvious to take special care of these kids, when you know what they may face.

      Good luck to you and your kids! Thanks for commenting!

  5. sheri smith said:

    VERY intersting!! By the way – what does fluid intake have to do with it? Also, do you know when Em’s play is?

    ________________________________

    • Sorry – I missed your comment yesterday! It got hidden in the list of comments.

      For folks with POTS/ Autonomic Dysfunction, fluid intake is important because it increases the blood volume and makes it easier to pump the blood where it needs to go as blood pooling is a problem. So, Em is supposed to drink at least 96 oz of water a day, although some of that can be gatorade or the like. And she does without much thought. If she doesn’t hydrate properly, her symptoms will get much worse and she will feel awful. Luke doesn’t have any official advice, he just knows he needs to drink enough to feel ok – especially when he is active. It isn’t a huge problem for him, just something he needs to be aware of. Some people with POTS actually need IV fluids a few times a week, so we consider ourselves lucky!

      The play is the first and second weekends of December – 6,7,8 and 12,14,15. Andrew said he was going to try to call you tonight – he got home too late last night.

  6. This was every interesting. I haven’t had children yet, but I always wonder if my future kids will benefit from preventative type care growing up because there’s clearly ED’S and autonomic issues running strong in my family. Your son’s symptoms sound a lot like some of the things I deal with having POTS.

    • I have to believe that early diagnosis is the key. I don’t think there are any studies that *prove* that yet but I know it will make all the difference for the kids who are being diagnosed young! The autonomic issues seem to be what really smacks EDSers down. My daughter can deal with the pain and dislocations, but the constant tachycardia and exhaustion are what really knock her down. Fortunately, my son only has very mild symptoms and we at least know what it is, so if he worsens, we know what action to take!

      Thanks for commenting!
      Beth

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