Rare Disease Day

 

February 28this Rare Disease Day. The Fair for Rare campaign is concerned with raising awareness about rare disease and petitioning for equal rights.

I thought now would be the perfect time to briefly share my rare disease story in support of the Rare Voices initiative.

I hope this post serves to remind those with a rare disease that they’re not alone and also raises awareness about rare disease among the general population.

 

ABOUT RARE DISEASE

Rare diseases fit into one of two categories. They’re either life-threatening or chronically debilitating and in all cases, cannot be prevented.

Worldwide, there are less than 1 in 2,000 people living with a rare disease diagnosis. These are either acute or chronic versions of illness and affect anyone, at any age.

Rare diseases are symptomatically complex and this makes them difficult for clinicians to address. There are no cures for rare diseases and no truly effective treatments. Many well-managed rare diseases continue to present an ongoing risk of death.

As you can imagine, living with a rare disease is challenging. This is why one belief behind the Fair for Rare campaign is that we deserve a fair go.

 

MY RARE IN A NUTSHELL

I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO). It’s organ failure just like heart failure or kidney failure and it’s very rare.

CIPO is a motility disorder. My small intestine often stops working (as if there is a physical blockage) then when it is working; the movement is much slower than that of a healthy intestine. Slow transit time through the digestive tract causes bacterial overgrowth and often, translocation of bad bacteria from the gut into the bloodstream (known as bacteremia), resulting in even more illness.

Unable to absorb everything I need from food in order to live, I have to rely on home parenteral nutrition (HPN) for sustenance.

Intestinal failure requiring HPN is extremely rare with less than 300 people across Australia and New Zealand who fit into this category.

As with many other rare diseases, I also have other medical issues to manage in addition to the CIPO, which adds extra layers of complexity to my health management.

 

MY RARE DIAGNOSIS

I was a completely healthy child… up until the age of eight years old. Then, seemingly out of nowhere, a mysterious illness knocked me over and ran away with my childhood.

It started with abdominal pain, severe bloating, back pain, vomiting, diarrhoea, reflux and radical weight loss. Doctors and other health professionals worked an entire year to find out what was wrong with me.

At nine years old, and down to a weight of 23kg, I was finally diagnosed with CIPO by a gentle, concerned gastroenterologist who would continue to oversee my health care during my childhood and adolescent years.

My rare disease was only found because a visiting radiologist from the U.S.A was present on the day that I had a barium swallow test. The radiologist had previously seen CIPO in America.

In 1992, there were only 52 other known cases of CIPO in the world and HPN was not considered a good long-term treatment option.

 

 

RARE WAS BIG IN MY CHILDHOOD

I looked like an anorexic girl, all skin stretched over bones with a white face and dark rings under my eyes. Unlike those suffering with Anorexia Nervosa, I ate food and as a result, carried around a huge, angry belly on my stick figure.

I lay about a lot (often on my mother) due to malaise and lethargy. I wasn’t absorbing adequate nutrition so I was constantly exhausted. I had sleepless nights, missed out on school and frequently begged for it to all ‘go away, please!’ because the pain was often unbearable.

My growth stunted and by age thirteen, my bone density was delayed to that of a ten-year-old. I was also still a long way from beginning puberty.

During the six hard years from age eight to fourteen, I depended on daily nasogastric tube feeds and ate as much real food as I could. Having extra nutrition pumped into my sluggish gut was a living hell and for all the pain and grief it caused, did not add much substance to my bony frame.

Gaining weight became the biggest focus of my childhood. Fattening me up was everyone’s number one goal but with a small intestine that didn’t work properly, this only equalled increased suffering.

Other organs began to fail in addition to my small intestine. Every day was riddled with anxiety. I developed severe anxiety and depression as a result of both biology and circumstance.

After countless hospital admissions, intravenous nutrition (HPN) became the only possible treatment left to try. At age fourteen, I started HPN as a very last resort, via a central line in my arm. The risks were great.

I gained energy, grew taller and fatter and finally started developing into a young woman. Although I gained new life, I didn’t have a normal adolescence but it was a huge improvement on the life I had with nasogastric feeds as a child.

 

 

MORE THAN A FEW COMPLICATIONS

I soon exhausted the use of central lines in my arms and cycled through several infusaports placed in my chest for long-term intravenous access. This required many admissions to hospital and treatments for either infection, technical hitches with my line or the new strain of illness I soon became familiar with (theorised at the time to be an inflammatory response stemming from my gut).

This new illness was mysterious. There was no evidence in the medical world of anyone else suffering from the same combination of symptoms. I experienced raging fevers and severely abnormal bloodwork, among other things. After a couple of trial and error years, my gastroenterologist found that steroids treated the mystery illness. Today, there is evidence to suggest that the early formulation of HPN I was on may have been the cause of these regular inflammatory flare-ups.

I developed a hyper-vigilance about my body’s functions and felt deep shame about the way I looked. I was highly stressed in social situations and this was mainly because I lacked control over my body. I always had unpleasant symptoms and a tube, somewhere, hanging from me that if I didn’t hide, invited unwelcome attention.

Society taught me that I had to hide my embarrassing IF symptoms and treatments if I wanted a chance at being accepted. Kids at school would tease me almost every day. Adults would give me exclusive attention that I didn’t want. I was so radically different from my peers and at my core, I felt defective.

My early life of rare illness caught up with me in my twenties. I started antidepressants and psychotherapy. Sickness and medical experiences contributed to complex trauma, unhealthy thinking and maladaptive behaviour.

 

 

HPN DOESN’T = PROBLEM FIXED

I’ve been on HPN as life support for 22yrs now. It helps – a lot – but it isn’t a cure for my rare disease. Like real food, the effect of HPN runs out and the tank has to be topped up regularly. I can’t do without it for long.

On HPN, I look a lot healthier than I often feel. Intravenous nutrition gives me a much better quality of life (in fact, it saved my life at 14yo), but it’s important to understand that HPN is an expert at disguising the brutality of intestinal failure.

Some days I can’t get out of the house due to exhaustion and other physical symptoms. Other days I can’t get out of the house because of severe anxiety. So when I manage to get outside and do normal life stuff, it’s a big win for me. I then have to spend time recovering, depending on how draining living life normally has been on my health.

Social occasions centred on food and eating are problematic at best. I become dehydrated during the day when I’m not infusing fluids. I’m restricted with what I can do at night due to infusing the HPN over 12hrs.

Some of my life-threatening concerns are liver damage (from the HPN), central line infections, central line malfunctions and loss of central venous access (my overused veins are terribly scarred and either tricky to work with or completely useless).

 

THANK YOU, READER

People rarely hear about the rare cases. This is why it’s so important to raise awareness about rare disease – so others can understand and support those of us who don’t fit into mainstream boxes.

Intestinal failure is rare, misunderstood and produces symptoms that are unfit for society. Us IF bods are the minority and don’t carry the mass appeal and familiarity of illnesses such as cancer, diabetes or multiple sclerosis, but we too deserve to be understood and given a fair go.

We live in an era of ending stigmas. I’m only one voice of many out there with a rare disease. We need support.

Thank you for reading this post and in doing so, caring about us rarities on Fair for Rare day.

 

Jodie How

West Australian writer, poet and blogger.
Jodie How

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16 thoughts on “Rare Disease Day”

  1. Way to go my very brave and courageous IF buddy!! Love your words, your passion and your heart. Happy Rare Disease Day! 🙂 xx

  2. Thank you for sharing your story, still so much I didn’t know and I am so proud of you for kicking butt every day and going for your goals! You are an inspiration 😍

    1. Thanks so much, Harri. Your words mean the world to me. It was hard to keep my medical story brief – so many other important things happened that I had no room to include here!

  3. You are an incredible person, Jodie. Thank you for sharing your story and giving us a glimpse into the world of living with this complex rare disease. Your gift with words will help so many others xx

  4. Jodie, I’m so glad you wrote this amazing description of your experience with CIPO and HPN and everything else that goes with it, including the mental impact of your physical illness. You are a warrior and I’m so glad you keep on working through your physical illness. I love reading what you have to say and I love knowing you. Warmest & Fair for Rare. Cori

  5. Thank you for sharing your story, Jodie. Although not ‘rare’, I resonate with some of your experiences: chronic diseases are a vicious circle, and I thank God for those who help me manage mine. I think barium swallows are one of the funniest tests, with the funniest name, I have undergone.
    Blessings on the good days – especially the good writing days – and the hard days.

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