Everything medical in our lives (except for Kender!) seems to be borderline. The boundary line (ohai Loki!) between “clinical” and “not a problem” is not always a happy place to live. Being on the boundary line means that medical treatment almost always can help, but doctors won’t diagnose or treat anything until it crosses that line. Being a family full of medical “zebras” doesn’t help anything, because the doctors rarely think to test for the conditions we actually have.
My hypermobility syndrome has ridden that line my entire life. When I was a kid, I constantly sprained my joints, but the dislocations were never severe enough or lasted long enough to get medical attention. I’m not completely rubber-jointed. My skin already shows the fragility my mother and grandmother faced but doesn’t stretch like elastic. My eyes are bad, but they’re correctable. I get orthostatic hypotension and cardiac arrythmias, but never bad enough to actually pass out or predictable enough to show up on a formal test. I have IBS, but not severe enough to land me in the hospital. Pain medications don’t work on me, local anesthesia frequently fails or works only sporadically, and even general anesthesia doesn’t work quite the way it should. My platelet and hematocrit counts are frequently low enough (150,000 and 12, respectively) that I can’t donate blood or platelets, but not low enough to set off any flags when I have CBCs drawn, not low enough that I ever actually bleed out. I have pain, headaches, neuralgias, symptoms of carpal tunnel and sciatica, but I manage to keep functioning through all of it so it must not be something that needs fixing, right?. Even my vitamin B levels when checked last year were low (B1 measured 8 on a scale of 8-30), but not low enough to be clinically deficient. All of these things affect how I feel, and I feel so much better when any of them are fixed or brought back up into the middle of the normal range, but getting anybody to treat these things is usually more trouble than it is worth. I can see signs of the same syndrome in almost all of my children, but again the symptoms are borderline, and when a diagnosis for them will require traveling to another state to see a specialist who may not be covered by our insurance, I have to wonder if it is worth the trouble at this time.
With the kids’ eyes, until Kender was born everybody was riding that borderline between “normal” and “Houston, we have a problem.” It was always just a little off, just a little tweak here and there, nothing to worry about, we’ll just get stronger glasses, have a couple of surgeries to tweak the muscles, do some patching, nothing to see here, move along. I had a growing suspicion for most of the triplets’ lives that there was something more, that there was something genetic in there, that they seemed too different, but it was never different enough to make anybody look further than ROP and lazy eyes. When Kender was born blind, the FEVR diagnosis for everybody became obvious, but they had never thought to look for it before.
My hypoglycemia is barely clinical. In real life, I never actually pass out. I probably never drop below 65 or 70 mg/dL…low enough to make me feel like shit, but not low enough to be clinical. So I got passed around from doctor to doctor with these vague “I don’t feel good” symptoms and got labels like “psychotic”, “atypical painless migraines”, “atypical petit mal seizures”, and even AIDS (once…before they tested at least), with nobody even thinking to check my blood sugar. When they finally gave me a glucose tolerance test, I dropped down to 30 or 35 and made the diagnosis obvious…but they had to think to give me that test first.
Brenden’s cold urticaria rode that line for a long time, making it difficult to diagnose. He only reacted in certain situations at first, like swimming in the Mason High School pool or eating iced shrimp (surprise: he’s also allergic to shrimp!), and we struggled for a long time to try and figure out what the connections were that were making him break out in hives. Once a doctor thought to put an ice pack on his arm, the diagnosis was obvious, as it would have been had he started out reacting as badly as he did in 2011 and 2012. Instead, he rode that boundary line with the cold, and he continued to ride it when tested for the full spectrum of allergies a few years ago. Every single allergen in the test caused a small reaction, just enough to make it positive but not enough to show symptoms in everyday life.
Autism is another one of our boundary lines, with most of us having symptoms and capable of being diagnosed when tested, but also not being severe enough generally to make anybody think of testing us. I first heard about Asperger’s Syndrome when an acquaintance shared her concerns about her son. He sometimes wet his bed, he would go to school and forget to brush his teeth or hair, he had trouble making friends, he wouldn’t look people in the eye, his language and math abilities were off the chart but he had trouble in school. I told her to quit worrying, I had had all of the same problems growing up and I was just fine. Then he got diagnosed with Asperger’s, and at about the same time we started seeing signs of it in Caitlin. I’ve had every differential diagnosis in the DSM for Asperger’s at one point or another and most likely should have that diagnosis, but I was never severe enough to warrant somebody else thinking of it when I was growing up and it hasn’t been worth arguing over as an adult. Caitlin also presented as borderline, so much so that her diagnosing psychiatrist at first said there was no way she was on the spectrum…but she tested positive for Asperger’s on every test he gave her. Some of my other children probably would have the same diagnosis if they were tested, but as with me it hasn’t been worth the trouble to seek out the diagnosis.
A story about PANS this morning brought all this back to the front of my thoughts. It’s not the first time I have heard of PANS or PANDAS, and I know people personally with this diagnosis. It always makes me think of Liam. When he was a baby and toddler, he was such a happy little boy. People would comment on how sweet he was, how happy and kind. When he was two, all that changed. His near-constant smile turned into a near-constant frown. He would actually growl like an animal and lash out at the slightest provocation, biting and clawing. He didn’t want to cuddle anymore. All those comments about “What a nice boy,” went away. It was severe and sudden enough that we took him to the doctor, where we were told that it was all because we had moved and were expecting a new baby. He never “got over it,” though. Another odd thing that happened only last year was the discovery that giving him regular pain medicine, something as simple as Advil, seemed to change him back into that happy, smiling boy that we’ve missed for so long. We also found out that he could have a condition that ought to cause intense pain, like an abscessed tooth, and not show any sign of it. Yet with all of that, Liam continues to function. He does his schoolwork, he learns new skills, he is not speechless and hysterical…he is subclinical. He is riding that borderline. And I am almost certain that some diagnosis and treatment, something more than “He’s just depressed about moving” would make a difference…but it is possible to get that?
How do you go to doctors again, for what seems like the ten-thousandth time, and say, “Listen to me this time, we have another invisible zebra that needs treatment.” I know that doing something would help, but when the problem is borderline and my life is already so packed, it’s way too easy to just let it slide, to say it’s too much, it’s not worth worrying about.
I recently (last year) asked my doctor to test me for RA and when that came back negative, she decided to straight out tell me that I have SOME form of arthritis, but she couldn’t figure it out. After a referral to the closest rheumatologist, an hour away, I got my tentative diagnosis – Ehler-Danlos Type 3. I was supposed to go to a geneticist this last January, but cancelled due to a snow storm forecasted for that day (that didn’t arrive until after I would have been home anyway). At my second appointment (trying to figure out a way to deal with joint pain), I was asked to show the new partner how far I can stretch for this test the Dr does. I only have the hyperflexable joints to the point where I dislocate fingers and knees easily. So far, I don’t have problems with my other muscles but that may be because it wasn’t known that I had this syndrome. In the end, I would love to hear from someone older and more knowledgeable about Ehler-Danlos. I leave you with the option to email me if you would like to help me understand this THING we both have. Please use the email address email@example.com to contact me, and thank you, either way.
I’m not entirely sure I understand it any better than you! Every time I look around, there’s another little thing about my body that can be explained in the light of systemic hypermobility. And that’s all it is, an explanation. There’s no fix, there’s no cure, there’s no way to reverse it, there is only dealing with the effects.
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