GUEST POST #1: Being undiagnosed, and trying to live despite an undiagnosed chronic illness

Guest post by: Hannah, my friend from Instagram, she's a kind selfless person and we met basically by her giving me a free cute little stuffed lamb she made my hand! Go and show her some love on instagram @chronically.undiagnosed92

“We don’t know what is wrong with you.” You hear this type of statement time and time again, and slowly you lose hope that there will ever be a different answer. Still, each and every day you get up and do everything in your power to function as normally as possible even when your body and mind are fighting you every step of the way.

Living with an undiagnosed chronic illness is a roller coaster of emotional and physical highs, lows and gut-wrenching turns. For me, I had already lived in the medical system for quite a while before what I consider to be my chronic illness’s development.

Back in August of 2015 I had a gastric sleeve bariatric surgery, which left me with devastating complications. Those complications have caused my oesophagus (the pipe between the mouth and stomach) to lose the normal peristaltic movements, which push food and liquids through the oesphagus and stomach, which ultimately left me dependent on a surgically placed feeding tube for my nutrition. 

There are several types of feeding tube, some of which are placed down a person’s nose into their stomach or bowel, and some that are surgically placed through the skin of the tummy. I had a nasojejunal (tube from nose to small intestine) tube for ten months before having a permenant feeding tube surgically placed in my abdomen to my remaining stomach.

The condition that I have is considered very rare, but has been recognised in several studies from medical journals. It is called Sleeve Dysmotility Syndrome. Sleeve Dysmotility Syndrome is a condition where as a result of having a bariatric surgery called a gastric sleeve, damage is done to the function of the digestive tract. The exact mechanism remains unknown at this stage based on what I have read and been told.

Just days ago, I learnt that my remaining stomach has also begun to lose peristalsis as well. When I try to eat or drink, my uncoordinated gastric tract is just as likely to push the food or drink back upwards (causing me to vomit) as it is send it through normally.

I had been moving past this complication and a long-standing struggle with anxiety and depression, to the point where I was going to be a success story in the eyes of my then treating team - then unexpectedly something changed.

My joints and bones began to ache mercilessly. I noticed that my joints were more lax than usual, hyperextended most of the time, and were dislocating and subluxating (partially dislocating) even more frequently than they had all my life. Over a matter of days, my head slumped forward as my neck muscles failed me. This has only a couple of weeks ago been diagnosed as Dropped Head Syndrome; for what little that’s worth, as I still don’t fully understand that diagnosis myself. At the same time, I also developed severe pitting oedema (fluid swelling) in my lower body; no one has been able to determine a cause for that. I still require fluid reduction medication every day.

I was sent to a rheumatologist who ordered a bone scan. As shown below, it showed severe inflammation throughout my bones all over my body.

(Source: own image)

The doctor diagnosed me with seronegative rheumatoid arthritis earlier this year, but it didn’t quite make sense, as my blood tests didn’t fit the diagnosis although my scan and symptoms did for the most part. Honestly, it’s more of an instinct that this is not the correct diagnosis. My blood tests never read like someone who had this disease could expect, and the doctors still couldn’t explain why my neck was so weak. I think they felt obligated to give me some kind of diagnosis to help me to cope, as the number of unknowns in my case is troubling to me.

Months have gone past, and my neck and shoulder muscles are beginning to show signs of wastage, yet there is still no real answer as to why this has happened or how to treat it.

I am in pain constantly.

I have consulted my general practitioner (equivalent to a PCP in America), a rheumatologist, a cardiologist, a neurologist, a gastroenterologist, a liver specialist, a pain specialist, and two neurosurgeons. They call my case perplexing, at best. I am now in the process of seeking advice from specialists in another major city a few hours from home, spending semi frequent stretches of time interstate looking for that answer.

Travelling is a painful experience and a strain on my myself and my family for many reasons, but I feel that I need to do something; I can’t live my life as I am. Still, I don’t know if there will ever be an answer.

Not having that answer has taken a heavy toll on me and my friends and family, undoubtedly. Before I became unwell I was a very independent person, but as a result of the Dropped Head Syndrome, driving has become too hazardous, which has left me dependent on my parents for transport to multiple appointments daily. It has also put a great deal of strain on our relationships, as I do resent needing the assistance at times, and my parents are becoming burnt out. In saying this, I’m not their only child, nor their only child with additional needs for their age; both of my brothers are on the autism spectrum, and while my older brother is relatively independent, my younger brother requires help with many daily tasks. I wish that I could make it easier for my parents, or that I could give them the opportunity to take a holiday, but it’s simply not an option at this stage.

My best friend and my support workers have been wonderful through all of my health issues. I only get an average of eight hours per week of care from support workers, still that means that my family have eight hours a week where they know that I am going to be cared for. And my best friend (truthfully, the only friend who has stuck by me) makes my life that much more enjoyable. She knows that I am struggling, but we work around my limitations to do ‘normal’ activities most weeks. If I want to talk about my illness, she will listen, but otherwise, she has learnt how to support me without it being awkward (that said, I don’t know how she does it).

It changes the major choices I make in my life (for example, I had been in the process of having IVF to start a family, but I feel that I can’t in good conscience do that when my health is so unpredictable, and when I fear what my prognosis may be). My emotional well-being has suffered, and for a time I fell back into the depths of depression that I had fought my way out of. In doing that, I even had thoughts of taking my own life (an old feeling that I thought was gone). In essence, I’m prone to taking an emotionally dark path that I have fought for a long time, and had been recovering from before this began.

Even in saying that I fear what my prognosis may be, I don’t know what my future holds. Without a firm diagnosis for all aspects of my condition, there are no certainties. I experience a range of seemingly unrelated health concerns, and while my doctors have given some diagnoses, there are still many unknowns about my condition. These unknowns include why I developed severe pitting oedema (fluid swelling), joint and muscle problems, neck issues within days of each other, and why almost every scan I have detects ‘prominent’ or ‘enlarged’ lymph nodes, and why my liver and kidneys periodically have severely abnormal blood test results. I have also been diagnosed with seronegative rheumatoid arthritis, gastroparesis, hypermobility (not formally diagnosed as Ehlers Danlos Syndrome, but suspected), and potentially some form of mast cell activation disorder or Mastocytosis. My neurologist is querying the possibility of a rare muscular disorder to explain my neck deformity.

There’s a reason they call my case complex.

I don’t know if I will ever be well enough to reach my goals, because no one knows what has caused my illness. No one can give me an idea of its trajectory so to speak; it’s really frightening.

I have already mentioned several conditions that have been diagnosed, but in reality, my other health issues far outweigh these conditions. It simply feels like my treating team and I are missing major pieces of the medical puzzle that is my life.

I know that my doctors can get annoyed with me when I search the internet for answers, but no one knows your body as well as you do.

Thankfully, my general practitioner at least is open to my suggestions. She also has a much better grasp on the complexity of my illness as she has been treating me since my pre-teens. Because of our longstanding relationship, when I mention a test or condition/s that I feel warrant further consideration, she listens. And as I said at the beginning of the article, this is all too often not the case with medical professionals, which makes everything more difficult so even though she’ll admit that she doesn’t have an answer, I’m grateful that she has stuck by me in searching for those answers.

It is also interesting to notice how differently various specialists and allied health professionals perceive my symptoms and therefore any possible diagnoses. For example, my neurologist and neurosurgeon have said that the muscles at the back of my neck are too weak, yet others are still adamant that the muscles there are spasming. I find this to be very frustrating. Another example is that my general practitioner has observed my postural pulse and blood pressure many times, and she is quite certain that I have postural orthostatic tachycardia syndrome (POTS), yet the cardiologist only saw me once before discounting this possibility despite the information from my general practitioner.

I am feeling quite desperate for answers that truly make sense.

I will quickly touch on one point. In Australia, we are fortunate to have more choices when it comes to our healthcare in terms of cost, but it often depends on the situation to decide whether public or private healthcare is more appropriate. Public hospitals are far more equipped to treat an acute condition than a chronic one, particularly in the emergency department, but I think that particular statement is true in many countries.

However, speaking of emergency care for people with chronic illnesses, I can say that almost every visit to the emergency departments is frustrating and honestly traumatising. As a result of my treatment by some medical professionals, I have developed medical PTSD, and just the thought of going into a hospital triggers extreme levels of anxiety that sometimes leads to panic attacks.

One example of my difficulties with the emergency department which happened at my local hospital. I presented myself to the front desk with chest pains. I get these pains semi frequently, but on this occasion the friend I was with got concerned, and she asked if I could let her take me to the hospital. I regret agreeing.

When we arrived, there was literally only one other patient waiting in the triage area. I stated that I had crushing chest pain, still I was told to take a seat. Forty minutes later, I was taken through to a ‘fast track’ treatment area. I could hear the senior doctor instructing a junior doctor to take me back to a treatment area, but making it quite clear to the younger doctor not to waste any time on me. The senior doctor implied that I wasn’t actually ill.

Ten minutes later I left with the most inaccurate discharge letter I’ve ever received. No observations or tests were ever taken, not even a basic set of vital signs, and the discharge letter illustrated to me how badly my words had been twisted to fit their version of the story.

I wish I could say that I had never experienced that before, but I’ve had another discharge letter stating the I’ve had a gastric band surgery (not true), but that I insisted that I’d had a “sleeve” (this is actually the truth, yet it implied that I was delusional simply because the psychiatric staff were not adequately qualified).

Due to these kinds of interactions, I now avoid going to the emergency department even if my health has deteriorated to a dangerous point. I am simply terrified of what will happen, and how I will be treated. Hospitals are meant to be healing places, yet as you are referred to as a bed number, you can find yourself feeling less like a person and more of a number, an inconvenience, an unwanted burden (particularly if your case is complex or difficult to manage).

Hospitals generally make me feel like I’m losing myself. It is truly terrible.

(Source: www.pexels.com)

My days do revolve around medical care; however, I have found a few ways to integrate my healthcare into my daily activities to create what my therapist would call a life worth living. For example, my rheumatoid arthritis prevents me from crushing my pills as is required to administer them in water through my feeding tube, but I can dissolve already crushed pills as needed, so I have arranged for my parents to crush the following twenty-four hours worth of medications and leave them labelled ready for me to administer each at the correct time. This delegation allows me to live with as much freedom as possible, and to give my parents greater freedom to live their own lives.

(Source: www.pexels.com)

Also, if I plan to be out for more than a couple of hours in a day, I will set up my feeding pump in a backpack so that I don’t miss too much of my daily nutritional formula.

At the end of the day, even though my health requires a lot of time/energy, I have to remember to live my best life despite my struggle, and to not allow my life to be ruled by my illnesses. I won’t pretend that it’s easy to live despite chronic undiagnosed illnesses, but I am trying to make the best it of a bad situation. I cannot really drive, but my close friends visit, and sometimes we go out shopping or to another activity. I’m very lucky to have her support. And on my worse days, I try to find activities that I can do at home. Crafts are great for this, whether it’s a paint by numbers, knitting, or an intricate sewing pattern.

I find that there’s something soothing about the steady hum of the sewing machine as I make various toys and accessories, I even make the occasional quilt.

(Source: own image)

I also have found a great deal of significance in making gowns specifically for premature infants in neonatal intensive care units around Australia (I have gotten the pattern from The Miracle Babies Foundation, and send them the finished items). In doing activities for charitable causes I find that despite my own disabilities I can have a positive impact on the lives of others who are struggling with their own personal difficulties. 

In knowing that I can provide a small measure of comfort to families in such a situation, then I feel that I can still bring meaning to my life, even if it isn’t the life that I had planned. So, I would strongly encourage people living with disabilities to find alternative ways to bring meaning to their lives, even though that isn’t always an easy thing to do by any means.

I don’t know whether I will achieve my ‘pre-illness’ goals, but like I’ve just said, I have found that my life can still have meaning.

I’m a big believer in the concept of if you never try something then you’ll never know if you’re capable of achieving that goal. And as long as I have goals, I’m going to fight to reach them. So, even though they may be different goals than I had before I became chronically ill, that’s okay.