28th February is Rare Disease Day around the World. Please welcome Kat and her post about Lymphangiomiomatosis and Osteogenesis Imperfecta (OI).
Every year on the last day of February is Rare Disease day, globally. While every year of my life I acknowledge the day, I have never been involved in proceedings or shared my experience of having a rare disease. At 33 years of age I have now two significant rare diseases, however I’m not sure I identify with them as diseases as such but a part of my health, disability and ongoing discovery. A member from an online support group for Lympangioleiomyomatosis aka LAM Australia, requested members if they would like to join in with writing a blog and sharing our stories. As usual, I have left it to the last-minute but have been thinking about where to start for 2 weeks. So why not start at the beginning, I’ll try not to write a whole memoir in one blog!!
I was born in Canberra, the youngest of 3, two older brothers and I was the first girl. I was born with talapes also known as clubbed feet and hand deformities. My legs and hands were plastered for the beginning of my baby life and my mum would take me in to get my plasters changed every week to hope that this type of intervention would straighten out my feet and hands. However, from 2 months, I began having surgeries on my feet, swapping tendons, ligaments, anything to hope the feet would eventually useful. When I was about 9 months I broke my arm and then again at 18 months broke my femur (thigh bone). As the general story goes for this kind of presentation for a baby at a hospital, my mother was questioned by social work about her potential abuse or neglect, as maybe she wasn’t coping with my other care needs. Ultimately, I was diagnosed at this time with Osteogenesis Imperfecta (Brittle bones) and arthrogryposis multiplex congentia (I still have no real idea about that one, but something to do with soft tissue formation and contractures of my joints?). Osteogenesis Imperfecta (OI) comes in different types, different symptoms and different ways it affects us all. I have type 1, the least severe of the disease/condition. I stand tall at average female height, have had a lot of breaks but can differ between individuals, blue Sclera (whites of the eyes). Some people with OI are permanently use a wheelchair, others don’t, some have dwarfism and some people don’t find out they have it to older age. OI can have impacts of cardiovascular health including lungs, bone bowing, and in some severe cases, babies born with OI don’t make it alive out of the womb or not very long out of the womb. This is heartbreaking for families, including those who may be accused of abuse if they have no history of OI. OI can affect females heading closely towards menopause whereby bones become more brittle and there is less protection for the bones. OI affects the bones by a person not producing enough collagen to help rebuild bone growth and density. That’s the short version!
From my OI diagnosis, I broke a bone, mostly legs every year until I was about 18. I was required to wear AFO’s or leg splints during childhood to hopefully stabilise my legs and my floppy feet. I broke my right femur a few times, causing leg shortness and bowed healing. I’ve had an external frame with pins outside my leg to lengthen for 6 months as a teenager. Months in hospital and regular visits to Sydney for treatment and guinea pig tests regularly. I wasn’t able to walk much, bone pain and lack of strength so I spent a lot of time in a wheelchair until about 15 years old. At 15 I was able to receive one of the first treatments for OI which, after not too long began to help. Just in time for teenagehood! I still broke, I still got wheeled around but at about 16 I transitioned to crutches and then got enough strength and confidence to walk around independently.
This first part is just a brief background, I didn’t really know anything different. I took it on, my mum was there every step and still made me join sports or be creative in ways how I could live a ‘normal’ life as possible. Which again, I didn’t know anything different, I didn’t really know why I broke but knew I had brittle bones but didn’t understand or acknowledge it was a ‘disease’. I got angsty as a normal teenager, felt misunderstood, looked differently and did the usual teenage thing.
In hindsight, I’m not sure it was exactly a ‘normal’ experience to others, but I tried to see it as not too different. I look back and realise that I was slightly privileged in a way, that I was able to meet people with other illnesses in hospital, take stock of my own life and learn in a unique way. Kids I was friends with in hospital were going through some really drastic health realities that I myself couldn’t understand. The big one is losing many of them to Cystic Fibrosis and those kids I still remember well, even though they all passed away so young. I’m not saying I was glad to have those experiences, but I am glad that I have attempted to use it as a positive personal strengthening path. I believe that these experiences built me up for my more recent, rarer diagnosis at the age of 30. While it’s a big skip from 16 to 30 I don’t want to drag on too much! My 20s were full of booze, parties, travel, road trips, gigs, work, self discovery, bad decisions, some broken ribs, legs, butt and knee in a simple overview! Haha! I began studying Social Work at 27 and this point will become important to the last part of my story after working mostly in call centres, the bank and boring things that I didn’t enjoy.
In the beginning of 2015, I had hoped it would be a year of not too many ups and downs and hopefully not any broken bones. I had been living in an apartment in Northcote by myself after years of group housing. I turned 30 in February, had a great holiday with about 20 of my friends to celebrate and started my final year at uni. I was accepted to do my honours for Social Work at a hospital in the west of Melbourne. I had a casual job at a call centre, and seemingly things were starting off great for the year. I did however have an ongoing sore shoulder/back that went down to my ribs. This pain had been ongoing for about 8 months. It seemed to fluctuate. I would go swimming and do Pilates to try to offset the pain. I had gone to emergency previously one day when it got really bad, but I was redirected to the GP in emergency who told me it was probably a sore muscle and to do stretches. He even got down on the ground to show me, even though I had to explain I can’t sit on my knees because of all the fractures. I was up to 30 fractures, thereabouts at this time and he seemed to not take notice of the pain I was experiencing. I had to reiterate that I had a high pain threshold because of all the fractures. The doctor insisted on me doing stretches and seeing a physio. After that, I had two occurrences when I would get struck with quite acute pain and issues with breathing. Again, I didn’t think much of it and thought it may have been chronic pain from my broken ribs a few years before.
In April 2015, 6 weeks into my research and placement for honours, I had another day like this. However, I had to go to my placement to be reviewed for my progress. I went into the hospital to have my meeting, I had the meeting and then asked my supervisor if I could leave early as I wasn’t feeling well. I felt lethargic, shaking and generally off. The pain in my shoulder had been ongoing but it was pretty bad this day. I left my placement hospital and drove to my local hospital closer to my home, where they had my medical files etc. I went in, got triaged, given pain relief and put in a bed to wait to get an x-ray. I had chest pain and a pain going down my left arm. I waited a while, as you do in any hospital. I asked a nurse walking by if I could have a blanket and a glass of water. At first, she seemed to be busy but walked back quickly as she had recognised me from a previous admission with a broken leg. The nurse asked me why I was there this time and she went off to see if she could get me to x-ray quickly. This nurse came back, wheeled me in the bed direct and the x-ray came back shortly. I had a collapsed left lung. The nurse pointed out that maybe I need to whinge more as I always come in quite injured and don’t say much. I agreed!
I was wheeled into the emergency procedure room where I had to get a drain tube immediately put into the side of my body. I was surrounded by about 10 interns and doctors who were there to assist and learn. I had a scalpel in my side, then the doctors finger inside of my chest. Obviously, I was a bit out of it on pain relief I was making rude comments about the whole finger in the chest thing, but that’s just my sense of humour! It hurt, it was uncomfortable, but I was not phased by this
procedure, as I had had much worse! I was attached to a fish tank to reinflate my lung and moved to the ward. I was put on the surgical waiting list and waited for days.
At this point I advocated that I needed to have this surgery and not be treated as an outpatient due to my belief that this happened before over the course of 8 months. I fasted on and off for days, which was again, familiar. Finally, I went in for surgery, I was told it would only take an 1hr or so. I was put under and woke up screaming. I had previously had odd wake ups to General Anaesthesia but this one was a bit out of sorts. I was screaming that something had been taken out of me and asking what was going on to the medical staff. I was confused and delirious. I calmed down, looked at the clock. It was 4.5 hours later. I didn’t ask why, but I had wondered. I remained in hospital all up for a week, discharged and asked to come back to a follow-up clinic.
A week later after discharge, I went in for my appointment in one of the cancer centres at the hospital outpatients where the Thoracic clinic was. I sat watching a lot of sick people walking by and reminded myself of how lucky I am.
The main surgeon called out for me to come in. For other fracture clinics I’d been too, I never saw the main surgeon or specialist in an outpatient clinic. I felt a bit off, a bit sick in the stomach. The way he started the consult off also made my stomach churn, made me feel hot and bothered. “Kathryn, you’re a very unique person and now you’re more unique!”. Great.. that is not my aim in life (sarcasm 😉). The surgeon went on to told me that I had a large cyst/growth removed from the bottom of my left lung which was likely why I had this feeling for about 8 months. They had sent this growth off and I was diagnosed with a condition called Lymphangioleiomeiomatosis or otherwise known as LAM. The surgeon told me that this meant it was a progressive lung disease but I shouldn’t worry and don’t look anything on the internet until I go to a specialist appointment in 6 weeks. So, I left, got my stitches out of my side, 6 wounds on the side of my body and used my phone to google LAM. ‘Terminal, progressive, woman and kids’ is all I really remember that I saw.
I left the hospital with my mum, at a stage of not really knowing what to do. I still felt unwell from the surgery and said mum, let’s go to the local pub. I couldn’t really drink either at this point either so thought I could just lose some money in the pokies instead! I messaged a few of my friends that might have heard of this. My friend asked, is that where you can’t have kids? I said I didn’t know, I hadn’t really been told much about it.
I continued to google.
I got to a point where I was using my critical skills to push through a lot of old information about death and terminal. I saw that there was more hope in the area. I was rare, real rare and there were no known treatments. I also didn’t know how this would affect OI and what that meant to any of it. I emailed my old specialist in Sydney for OI, I contacted the LAM Australia organisation and a contact I was given of a woman who had LAM in Melbourne.
I waited for my letter for my appointment. It didn’t come.
I ended up having to chase up a lost referral and no idea of when the appointment would be, so I could find out more, that related to me. Also, from getting my stitches out, they got really infected and I got quite unwell. This made every step of early diagnosis a nightmare, I remember it well.
After I got my appointment, the specialist was on leave, but that was enough to have a plan for CT’s and other tests to appease the stress of not knowing. It was still an unknown time. While I was getting tests and more appointments, I came to struggle with the diagnosis. I lived alone, I had supportive friends, but I was just not coming back from it like I would a broken leg.
I made appointments with psychologists and doing a mindfulness course to help me cope. However, none of what I did help make the diagnosis and unknown go away. I ended up with the assistance of my GP going on antidepressants which relieved a lot of the low mood and low motivation. But the diagnosis was still there. As I then came to be told, I would possibly be the only one with both OI and LAM diagnosis in the world. They had no relation, they had no known interactions. They were both rare and ‘unique’. Kids was not an option.
After a while, I slowly got back to things, even if it was just looking after myself and occasional work. In the background I still had intention of going back to my thesis. My thesis was interviewing parents who had babies in a Special Care Nursery who were premature or sick. My placement still kept my place and I returned the next year. The preparation was emotionally and physically. The idea of study was emotional, but it was more being around babies especially with the consideration I was told not to due to LAM progressing quicker, the idea that OI would be affected by it and the general feeling of being ripped off. A 30-year-old, who is fertile and could get pregnant, but shouldn’t. The joys of being a woman, both diseases interacted in their own way that they were affected and in terms of LAM, progressed by female hormones.
I went back, I did it, I worked hard and finished my thesis, spoke at conferences about it and educated people on what I had found.
I felt better over time, I was taking it day by day, realising that maybe I would manage this ok.
Three years later, I’m working full-time at a hospital in an acute ward as a Social Worker. I see a lot of sick people in the midst of crisis and new things they too have to adapt to. I think myself getting into this field has brought me more strength and greater understanding of my own limitations. I’m able to separate myself to help people, I’m able to provide guidance with my theoretical knowledge rather than my personal attitude. I’m still human though, and I acknowledge how my experiences affect how I operate as a Social Worker.
Ongoingly, the word terminal became less of a focus, as one early person said to me, life is terminal… and I still believe this is true. I have ups and downs, I have days I feel misunderstood and alone in diagnosis. I’ve seen the bottom of the pit and came back again. There’s a lot to my story I’m not ready to divulge but one day, a step at a time.
I am wanting to share a part of my story to help other people to feel that they’re not alone with their rare diagnosis, disease, chronic illness, disability or mental health. The more I discover in my own personal life about people who cope with things on their own, influences me more to want to reach out myself. I too haven’t been the greatest at it. Hopefully with one step forward I can start that journey myself…
Thank you for reading 😊
Kathryn aka Kat
Kat thank you so much for sharing.