‘I’ve had doctors Google in front of me and advise me while they read Wikipedia. It’s soul destroying.’: Woman shares rare disease diagnosis, advocates for increased awareness

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“August 19th, 2021, I woke up vomiting. I then continued to vomit for 2 weeks straight; and just like that, life as I knew it was over.

Mild Medical Complications

My story is quite typical. I was born a seemingly normal baby, but I gave my parents a run for their money. I cried for the first two years of my life, and doctors couldn’t find a reason for it, so my poor parents just had to get on with it and manage as best as they could. As a child I was diagnosed with moderate hearing loss in both ears. I was also diagnosed with reflux in my kidneys. I ended up wearing hearing aids and having corrective surgeries to my kidneys. My childhood was unhampered by the medical stuff. I was the same as my friends, but I got to have days off or half days to go into appointments every few months. It was a normal life and I thought nothing of it.

When I was 15, my right kidney gave up and I had to have it taken out as it was causing problems. From then on, I still had to go for check ups but really would never have considered myself sick; I just had to be more careful than my peers. As I finished up my teenage years I had no idea what I wanted to do or be, so after a chat with a nurse on one of my hospital visits, I decided that would be my avenue of choice.

woman in scrubs smiling
Courtesy of Debz Leavey

Living My Best Life

While at college, I made it my mission to travel to as many countries as I could. I think in 6 months I did 13 capital cities, and finished it off with a month volunteering in Africa. I, for lack of a better phrase, lived my best life.

When I graduated, I worked in the UK and in loads of different hospitals in different areas trying to find my niche. I have ADHD and get bored easily. My life to an outsider would be described as chaotic, but I loved it.

mother father and daughter at graduation
Courtesy of Debz Leavey

At 27, I opted to change the direction of my nursing career and moved to Galway to study a new field. It wasn’t until a year later my health started to catch up with me. I was 28, trying to finish up a Master’s thesis, and in true ADHD style I had about 5 weeks to do a full thesis. I stressed my body to the max with 18-19 hour days for the full 5 weeks, and somehow got it submitted on time. But during this time I kept getting pins and needles and muscle cramps. I put it down to the stress of everything, but once it was submitted and my body stopped it was like I hit a brick wall.

Rare Disease Diagnosis

I went to my nephrologist (kidney doctor) for a routine appointment and he noticed my calcium levels were off. So I was put on supplements and it was insane. I’d take the supplements and feel almost euphoric, but then that dosage wouldn’t keep my levels up and we’d increase it again. It became a vicious cycle no one could make sense of. My kidney doctor realized there could be an endocrine link and by pure chance diagnosed me with a rare presentation of a rare disease. He felt I had Primary Hypoparathyroidism and referred me to an endocrinologist who confirmed it.

Hypoparathyroidism is a rare condition whereby you either don’t make enough of or don’t make any parathyroid hormone, meaning you can’t manage your calcium levels like a normal person. As a nurse who’d worked in loads of different specialties and in emergency departments, I had never heard of it, and never realized the importance of being able to maintain your own calcium. Calcium, would you believe, isn’t just for the bones… who knew?! It’s an electrolyte used in every muscle of the body and it’s involved in most of the physiological processes.

Young woman stands behind a snowman with her arms spread out.
Courtesy of Debz Leavey

Most people who develop hypoparathyroidism get it as a result of a botched surgery and their form of hypoparathyroidism is called secondary hypoparathyroidism (75% of cases). The rest of the cases are even rarer and are deemed primary hypoparathyroidism. The cause of mine was unknown, so my endocrinologist referred me to a specialist to get genetic testing done, but told me it could take awhile. Over the course of the first year and a half from calcium drops starting, I had maybe three admissions for low calcium levels. My medication was adjusted several times, but overall I still had my normal life. I worked, played football, met friends, and traveled. I was busy and happy.

Young woman takes picture on field with football team.
Courtesy of Debz Leavey

Rollercoaster Levels

I was nearly two years into the journey before I saw the specialist and got my official diagnosis. My genetic testing showed not only was I rare to have Primary Hypoparathyroidism, but I also had Barakat Syndrome (also known as HDR syndrome) and the condition was so rare there were less than 200 known cases worldwide… ever.

The medications I had been taking were putting my kidney under strain so the specialist gave me a once daily injection so I could reduce the meds. The injection was Teriparatide, a drug mimicked parathyroid hormone, and for the first few months of taking it it was like a miracle drug. My kidney got better, my levels held really well, and I felt so energetic.

But then I decided I’d start getting fit, and decided I wanted to challenge myself to a 10k. The more I did the quicker my levels dropped. This started a cycle of calcium drops, and I began having to increase meds again. By July 2021, though, I had it all under control again and things were improving. But then… August 2021 happened.

Woman jumps in doorway of house, excitedly holding a bottle of wine.
Courtesy of Debz Leavey

The mystery virus changed life as I knew it. From August on, no matter what medications I took my calcium levels would drop. I had so many admissions between August and December 2021 I lost count. Hypoparathyroidism is not for the weak. It causes hypocalcemia; in a ‘normal person’ if your calcium drops your body releases parathyroid hormone and allows for more calcium to be absorbed. In Hypoparathyroidism, that doesn’t happen. The mechanism isn’t there, so you have to try to keep your levels up with supplements.

I was having dangerous drops, meaning I’d be admitted for IV calcium to stabilize it, and then I’d have to try to self manage again. I spent January 2022 in a hospital bed on continuous calcium because it had just become too hard to manage. My consultant had a really good idea and got me a syringe driver and my parathyroid hormone replacement was put through a machine over 24 hours. This improved things massively and I got to go home, but then I developed sepsis and ended up admitted again. Between February and March I gained control over my life again, but then I got COVID and my levels spiraled.

Building A New Normal

Unfortunately, to date we still don’t have logic for what’s happening. My condition is so rare it could be related to it, but it’s unknown really. So I just have to keep waiting and hoping something will work. For the time being, I take 46 tablets a day. I’m on a continuous infusion of a parathyroid hormone through my stomach, and I still get infusions three times weekly. This is my current reality; I hope it’s not my forever reality but the truth is no one knows.

Young woman takes selfie with father at crowded event.
Courtesy of Debz Leavey

Did you know most doctors will see one case of hypoparathyroidism in their lifetime? Did you know in the text book it says standard treatment is calcium and Vitamin D supplements? I’ve had doctors tell me I’ve obviously not been taking my meds, the symptoms I’m experiencing aren’t symptoms of hypoparathyroidism, and there’s no way my calcium could drop as quickly as it does. It’s taken the guts of 11 months to have my condition taken seriously by doctors who don’t specialize in endocrinology. There is a lack of medical knowledge around the condition. I’ve watched doctors Google it in front of me, and had them advise me whilst they read Wikipedia. It’s soul destroying. More needs to be done for rare disease awareness.

My experience on the other side of the medical world has shown me there’s so much unknown. We look at our doctors and specialists for cures and to fix us, and get frustrated when they can’t. I’ve read so many research articles in the last year trying to advocate for myself. I joined every type of forum and followed every online conference in hope of finding a way back to the old me. I set up an Instagram page, @Beingrareinireland, to try to share my experience while making things easier for others to find, and I suppose mainly to advocate for people like me. But the reality is rare diseases don’t have the same sparkle as other diseases and so much less will be known about them without someone pushing them into the limelight.

Next month marks a year since my life changed as I knew it. I’m currently building a new normal. I’m building up my hours in work, seeing friends, and finding new hobbies that don’t involve exertion. I’ve figured out how to travel and get infusions, and for the most part I’m getting back to my happy self. I have hope for new treatments, and I’m not fully accepting this new normal, but I refuse to just exist. I won’t sit by and wait for a cure, so I’ll keep pushing myself because I want to live life to the fullest.

In the words of my Grandpa Tom, ‘You’ll be a long time dead.’”

Young woman takes picture laughing with grandpa.
Courtesy of Debz Leavey
woman jumping in front of building
Courtesy of Debz Leavey

This story was submitted to Love What Matters by Debz Leavey of Dublin, Ireland. You can follow her journey on Instagram. Submit your own story here, and be sure to subscribeto our free email newsletter for our best stories, and YouTube for our best videos.

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