Entry 42: They Care So Little About Genetic Illness

June. 25. 2013

I didn't realize that although there are 30,000 cases of Cystic Fibrosis in the US, there has never been any Federal funding towards research and all the breakthroughs that have been made have been privately funded through hard work on the part of those who care about people with CF and prolonging their lives.

There are no supports for CF patients either, financially, and again; care is relied upon by donations, and out of parents' pockets. Although people with CF may possibly live into their 40's today, the dirty truth unspoken is probably that this would depend on their socio-economic background and status.

Letting an innocent and beautiful young person drown to death before they hit age 18, because their parents don't have as much money as other parents? It's so unjust. However, that's the way the world is right now, and people should be ashamed for turning a blind eye. So much money is wasted on things like war, in which results in inevitable murder… all the more horrific. So much money is wasted on what fuels oppression, and brings no solution to the progression, even the survival of, the Good in Humankind.

Learning about these facts on CF brings to my attention something significant: how little our governments care about Genetic Illnesses. Studies are now showing that autistic people (who tend to be prone to health issues) are often affected by underlying genetic illness, in which may (or may not) become autoimmune in nature; or, may just be mysteriously degenerative. Not just autistics of course, I am mentioning that we are more prone.

Why do they not care (besides the obvious)? Two reasons could be: A) we are a minority, and drugs cannot "solve" (they rarely do anyway but.) our problems, as agonizing and potentially life threatening as these problems may be…and B) because therapies to improve things would only drain the bank, profit would be more lost than gained. And so they don't give a damn.

Very little is known about many of these illnesses. Many are still unidentified, and some are identified but without enough information as to know how to best go about self care; decreasing the chances of complications and prolonging the lifespan.

My husband and I are desperately waiting on the genetics list for some testing. It's a long wait and once we have more answers, I'll be able to dig for some more info, some of which may not be there.

I have been dismissed, patronized and disbelieved for feeling unwell my whole life, in some regard. I have digestion difficulties, easily fatigued, structural pain and low-grade injuries. There’s even more that I'm not sure I can describe very well. I have sensory processing difficulties to top it off. But they treat it almost as though it doesn’t exist. Imagine how it feels. I have to be strong, I know the truth of my experience. One day, I’ll prove it further.

But for now: The notion of Ehlers-Danlos has seemed to finally shed some light on how I feel, and why. I had no idea what Ehlers-Danlos Syndrome was until a woman at a birthday party of my friends' daughter, who had it, mentioned she thought I might based on descriptions of how I felt. I forgot about that until a year later, when my pediatrician mentioned it and that my younger son has some features.

My younger son has not been feeling unwell as of yet, other than the fact that he does tire more easily and seems to have trouble with motor coordination (in which he's been referred to physio for.) Regardless, I think it’d be at least better for us to know about him at a young age, like I didn't know with me, so that we can prevent injury and damage as has happened to me. However, I don’t know if this is really possible, since the system isn’t preventive.

I've been feeling more unwell that ever, especially the past few years. As I’ve mentioned, I have been tested incessantly for autoimmune disorders and such. Nothing has showed up as of yet, although I have been recently screened again as sometimes genetic issues can produce autoimmune issues; however the culprit and cause is genetically based, most likely.

Fibro is the label, but I’ve always felt there was more to my particular case...deep in my gut. It’s this way for many, and many have similar questions, I think.

Sure, I do have many features of Fibro, bona fide. Fibro is a massive state of systemic imbalance illness, often caused in part by prolonged exposure to stress and trauma, as well as physical injures too…and it makes some sense as to why. However, recently my rheumatologist said, "it's secondary to something else, or other things, that caused it"...which feels at least corroborating.

Whenever the day will be, that I will obtain the concrete answers which produce evidence, I will cry “I told you so!!” in both joy and relief!

I am, and have always been, telling the truth. I live with feeling unwell in several ways, and I know it’s not in my head. Most of them try to imply that it is, which can be infuriating, but I know it’s not. I'm in pain and I have problems with digesting/gut issues, I'm plagued with weird teeth and jaw issues.

I have to spend money that I do not have on supplements and special diet, all of which only half helps. I’m indebted because of dental stuff.

I've had a dermatologist and a dentist say they feel I do have EDS, but the medical system still doesn’t buy it. I don’t have the “obvious” symptoms. This parallels how they thought about my ASC, until detailed neuropsychological testing proved it. I think there is a lack of awareness, and acknowledgement, that EDS is a spectrum. Though that is the latest up to date information, it certainly hasn’t reached the area I live in.

Aside from my immune and hormone imbalance issues, I feel I do “lack that collagen” on a mild level, deeply and instinctively. I feel that all of the above things, are thngs htat people who are labeled with “fibromyalgia” are likely affected with. They cause fibro. The connective tissue stuff, I think, has a role to play in that for a lot of FMS people, especially when they also have premature osteo arthritis as I do.

I am definitely “connective-tissue-divergent” let’s just say. First of all, I am hyper mobile (flexible) and have been diagnosed with this by my rheumatologist. It’s not super hypermobile, but it’s moderate. I used to be more so, but I’ve gone more so stiff now, and my joints are sore. However, the painful thing is although they are stiffened and sore, they're still somewhat hyper mobile. So if I move the wrong way, or without control, they will over extend and it'll hurt. It'll injure. It's hard to explain, but it's pretty painful. Nobody seems to get it. I use braces on my knees and wrists, to try and keep them in line. I have to be in the kitchen a lot and that's hard.

The thing is, I know my body, after all. It is a subtle and “high functioning” kind of situation. Well, the body learns to cope with longstanding divergent challenges, just like the brain does when it comes to insidious, unidentified autism.

Besides the more textbook fibro, I have very odd issues that point to something as odd as EDS. I feel I am a total “zebra” unrecognized. For example, I “go out” more easily with my skeletal system, chiropractors always tell me this. It hurts when I do. Sometimes I can “pop it back in” my moving in a certain way, other times I need a chiropractors’ help, and it feels icky and painful. Not to mention it’s a stress to try and afford a visit. 

My neck is the worst part of the mess. It apparently has a 100% loss of curve, it's really stiff and painful. I have a subluxation right where the bone connects to my skull, but I can't afford treatment. I just live with it for the moment. It might have been caused because of my TMJ, which is also really bad. My jaw is hyper mobile and it pops out often. This caused damage and chronic pain that that area too. Sometimes it's really hard on my brain. I have, admittedly, struggled with painkillers for this reason. I try very hard to stay off them because it upsets my digestive system and the other health issues I have. It's hard though, when you can't afford the therapies you need. Government doesn't acknowledge how ably they're need to function. I put up a tough battle to function.

It feels like something is “partly” dislocating sometimes, like twisting, and popping It’s not pleasant, though subtle, and it can throw my brain for a loop. I also sprain and strain easily too, if I try to lift things or move abruptly. My muscles also spasm and are chronically “stiff.” I feel this is their way of protecting themselves from injury. I’m sure it works, but the stiffness hurts too. However, without the stiffness, and the “locking in,” an injury might happen. So it’s my body’s defense, which seems inevitable.

Sometimes my sensory system is all messed up and confused, and it’s hard for me to tell what’s even going on, let alone describe it. This is preventing me from being able to, especially verbally, whence on the spot before a system that makes me nervous as it is… it’s frustrating.

My skin is very soft and young looking, and a little slower to heal if scratched or cut.  It scars somewhat easily, too. I can get infections easily with cuts, though they are more so mild. If I get scratched, it goes red and gets infected easily, I have to put lots of antiseptic on it, and often cover it up…only a scratch. My skin can sag very slightly, especially if I lose any weight. If I lose weight in my face, from stress and general weight loss, now that’s when I get a “double chin”: how opposite! I jokingly call this a “double skin” because it’s due to skin on my neck sagging a little… but again, it’s hardly enough for them to notice. Also, because it causes me to be self-conscious, I use an amazing, natural face gel (derma E) in which helps to firm it a little.

My eyes are a little lazy. Well, one is, especially. My muscles lack control, so I’ve had to “work out” to not get injured due to “floppiness” and weakness. When I worked out gently and in a straightforward manner, I’ve found it really helpful for my functioning. Furthermore, if I do adhere to working out (carefully, keeping myself in line so I don’t “go out”) I can actually look chiseled and ripped very easily, if I try, and I’m being “more active” cautiously and in general. It’s hard to explain, but when so, it’s like a ballet dancer or yogi master. I actually feel like I’m moving around like one, when I’m more “in shape.”

I figure it’s because my muscles always have to be more engaged than the average person, as it is. When I’m less active, I’m more exhausted than ever, because my body is literally weak.

I also bruise fairly easily, if I bump myself, but I go out of my way to avoid this because it sure hurts…so of course I’m not going to be “covered” in bruises! I was fairly bruised as a kid though, especially my legs.

My mouth is small, and I have a pretty heavy overbite in which is quite well disguised by my lips and facial shape. My teeth are sensitive, especially to traumas. I’ve had major issues just from that, and from grinding…and it’s beyond the norm. My teeth are also crowded; they feel like they are “taking up” my mouth in a way that’s kind of uncomfortable.

My body has always refused to accept root canals. Not that this is entirely a bad thing, because the long-term effects of endodontics are awful, but it an odd thing and EDS is the only answer for it. This is a reported issue regarding dental work on EDS patients.  Root canals have a high chance of failure. It’s to do with slowed healing times and fragility of tissues. I have experienced this, when some of my teeth were “trying” to be saved.  So instead, I’ve had to make due with other measures.

I honestly don’t think any of the above is “normal” …albeit slight, subtle and hidden. It’s frustrating that NT clinicians can’t seem to see these subtleties. I know they’re there. After all, this is my body and I live in it! I also see it things in others too, when they ask me what they think about they’re situations.

I’ve helped point a lot of friends in the right directions regarding what might be going on, and what self help measure to try. Some people have said I should “go into it” as a career. But, nah. Special interest only, is what it is, really. I did in order order to help myself function, so I could get to what I love. I want to end this diary soon, and do my art thing. I would, however, like to do some self-help and health rcipe videos on youtube, in the future.

Back to genetics: My husband is definitely afflicted too. He looks very young and can't put on weight or digest fats very well. Our pediatrician, as well as the psychologist the diagnosed him with AS, thought his appearance and difficulty with energy levels himself, could be suspiciously congenital. His diagnosing psychiatrist suggested that our GP to refer him to genetics, but our GP ignored it. The pediatrician saved the day on that one...because we are all referred as a family. However, we're still waiting, almost to the end of our ropes (it feels sometimes.)

This little family continues to struggle with being a minority in all regards, both health wise and neurologically; and I am really tired of it! I really hope genetics can bring me the answer to serve as a catalyst for my being able to speak out about all this, and bring this issue (not just mine personally but of many others) too much needed public attention.  However, I’m not counting on this, with the way things are.

Also, I wish to have the ammo I need in order to get that disgusting psych report (that says I fake everything for attention; it's the most cruel and harshest load of crap that has every been said about me) off my file forever. I will not be quiet about any of this until it happens. Right now, I just have to keep myself distracted with others things that I like to do.

I just watched a documentary about a young woman, dying of CF. She died living her dream of doing her music. She had such a beautiful voice; miraculous for someone barely able to breathe. Her name is Alice Martineau; look her up. She is now on the other side. It reminded me that if she could do it, anyone could really…

I'm sure I'll be ok, and that it's not too serious. I just have to bite the bullet, wait through the incredible slow-ness of obtaining some answers, and seize each day as precious. We should all do this anyway, and I myself could've realized that sooner. We never know what can happen, though. Let's not forget to say "I Love You."

Scarlit-Rose Ashcraft

aka "Rosie"

www.scarlitrose.org